File Info

Filename
aih-tih-sc-64cd51-R1_A23YTGFLT4_1.fusions.csv
Full Path
s3://natera-rnd-pltf-dev-nextflow-scratch-01/work/f1/69fee63b856cb4e0389ff8b22adc03/aih-tih-sc-64cd51-R1_A23YTGFLT4_1.fusions.csv
Size
6.1 KB
Attempt
Fusion Databases Score Explained score arriba starfusion
NUP214--LAMC3 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr9:131164144#chr9:131087476,reading-frame: out-of-frame,type: duplication,split_reads1: 73,split_reads2: 67,discordant_mates: 2,coverage1: 2809,coverage2: 1455,confidence: high position: chr9:131164144:+#chr9:131087476:+,junction_reads: 143,spanning_reads: 2,ffmp: 0.4888
PTPN12--GNAI1 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr7:77537645#chr7:79915067,reading-frame: out-of-frame,type: deletion,split_reads1: 70,split_reads2: 21,discordant_mates: 1,coverage1: 4752,coverage2: 27,confidence: high position: chr7:77537645:+#chr7:79915067:+,junction_reads: 93,spanning_reads: 1,ffmp: 0.3169
PSME4--ACYP2 FusionGDB2 0.125 0.5 * (0.125 + 0.125) + 0.5 * (0.000) position: chr2:53906598#chr2:54304688,reading-frame: out-of-frame,type: inversion,split_reads1: 58,split_reads2: 28,discordant_mates: 1,coverage1: 969,coverage2: 1571,confidence: high position: chr2:53906598:-#chr2:54304688:+,junction_reads: 86,spanning_reads: 1,ffmp: 0.2919
SMARCA5--CACNA1C 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr4:143525551#chr12:2115224,reading-frame: out-of-frame,type: translocation,split_reads1: 38,split_reads2: 34,discordant_mates: 1,coverage1: 1784,coverage2: 1250,confidence: high position: chr4:143525551:+#chr12:2115224:+,junction_reads: 72,spanning_reads: 1,ffmp: 0.2451
TRMT2A--PRODH 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr22:20112703#chr22:18922933,reading-frame: out-of-frame,type: deletion,split_reads1: 18,split_reads2: 27,discordant_mates: 2,coverage1: 3374,coverage2: 917,confidence: high position: chr22:20112703:-#chr22:18922933:-,junction_reads: 45,spanning_reads: 2,ffmp: 0.1565
SSR1--AL031123.1 0.062 0.5 * (0.125) + 0.5 * () position: chr6:7309917:-#chr6:6711858:-,junction_reads: 28,spanning_reads: 0,ffmp: 0.0944
CAAP1--LRRC19 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr9:26884810#chr9:26999703,reading-frame: out-of-frame,type: duplication,split_reads1: 9,split_reads2: 16,discordant_mates: 0,coverage1: 853,coverage2: 98,confidence: high position: chr9:26884810:-#chr9:26999703:-,junction_reads: 28,spanning_reads: 0,ffmp: 0.0944
ACTBP6--ACTB 0.062 0.5 * (0.125) + 0.5 * () position: chr8:84948968:+#chr7:5528696:-,junction_reads: 15,spanning_reads: 0,ffmp: 0.0495
TLK2P1--AC110079.1 0.062 0.5 * (0.125) + 0.5 * () position: chr17:34039043:-#chr4:118595912:+,junction_reads: 11,spanning_reads: 0,ffmp: 0.0334
TLK2--AC240565.1 0.062 0.5 * (0.125) + 0.5 * () position: chr17:62560126:+#chr17:106864:-,junction_reads: 11,spanning_reads: 0,ffmp: 0.0111
FRAS1--TBCK 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr4:78066016#chr4:106308989,reading-frame: out-of-frame,type: inversion,split_reads1: 6,split_reads2: 3,discordant_mates: 0,coverage1: 244,coverage2: 540,confidence: high position: chr4:78066016:+#chr4:106308989:-,junction_reads: 9,spanning_reads: 0,ffmp: 0.0303
CDV3--MT-RNR2 0.062 0.5 * (0.125) + 0.5 * () position: chr3:133575115:+#chrM:2449:+,junction_reads: 9,spanning_reads: 0,ffmp: 0.0303
SCLT1--LINC02173 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr4:129082306#chr4:106434612,reading-frame: out-of-frame,type: inversion,split_reads1: 9,split_reads2: 0,discordant_mates: 1,coverage1: 490,coverage2: 1,confidence: high position: chr4:129082306:-#chr4:106434612:+,junction_reads: 9,spanning_reads: 1,ffmp: 0.0337
GALNT17--AUTS2 Mitelman 0.375 0.5 * (0.125 + 0.125) + 0.5 * (0.500) position: chr7:71133040#chr7:70118132,reading-frame: out-of-frame,type: duplication,split_reads1: 5,split_reads2: 3,discordant_mates: 0,coverage1: 134,coverage2: 1209,confidence: high position: chr7:71133040:+#chr7:70118132:+,junction_reads: 8,spanning_reads: 0,ffmp: 0.027
ARID1A--ARID1A FusionGDB2 0.062 0.5 * (0.125) + 0.5 * (0.000) position: chr1:26761096#chr1:26729651,reading-frame: out-of-frame,type: duplication/non-canonical_splicing,split_reads1: 137,split_reads2: 193,discordant_mates: 0,coverage1: 2303,coverage2: 3017,confidence: high
TVP23C--CDRT4 FusionGDB2 0.062 0.5 * (0.125) + 0.5 * (0.000) position: chr17:15503098#chr17:15440285,reading-frame: stop-codon,type: deletion/read-through,split_reads1: 40,split_reads2: 28,discordant_mates: 1,coverage1: 558,coverage2: 270,confidence: high
ZMIZ1--DLG5-AS1 0.062 0.5 * (0.125) + 0.5 * () position: chr10:79293653#chr10:77940813,reading-frame: out-of-frame,type: inversion,split_reads1: 38,split_reads2: 4,discordant_mates: 0,coverage1: 1608,coverage2: 8,confidence: high
ZMIZ1--H2AZP5 0.062 0.5 * (0.125) + 0.5 * () position: chr10:79293653#chr10:77940813,reading-frame: out-of-frame,type: inversion,split_reads1: 38,split_reads2: 4,discordant_mates: 0,coverage1: 1608,coverage2: 8,confidence: high
AC015911.9--SLFN12L 0.062 0.5 * (0.125) + 0.5 * () position: chr17:35522279#chr17:35480195,reading-frame: .,type: deletion/read-through,split_reads1: 17,split_reads2: 17,discordant_mates: 1,coverage1: 308,coverage2: 163,confidence: high
CCDC169--SOHLH2 0.062 0.5 * (0.125) + 0.5 * () position: chr13:36248606#chr13:36202093,reading-frame: out-of-frame,type: deletion/read-through,split_reads1: 8,split_reads2: 13,discordant_mates: 0,coverage1: 73,coverage2: 42,confidence: high
B3GNTL1--AC139099.2 0.062 0.5 * (0.125) + 0.5 * () position: chr17:83005115#chr17:83200797,reading-frame: out-of-frame,type: duplication/5'-5',split_reads1: 8,split_reads2: 8,discordant_mates: 0,coverage1: 1698,coverage2: 10,confidence: high
AC019197.1--KCNH7 0.062 0.5 * (0.125) + 0.5 * () position: chr2:165091299#chr2:162885582,reading-frame: .,type: duplication,split_reads1: 10,split_reads2: 2,discordant_mates: 0,coverage1: 440,coverage2: 6,confidence: high
AC019197.1--RPL7P61 0.062 0.5 * (0.125) + 0.5 * () position: chr2:165091299#chr2:162885582,reading-frame: .,type: duplication,split_reads1: 10,split_reads2: 2,discordant_mates: 0,coverage1: 440,coverage2: 6,confidence: high
CEMIP2--TMC1 0.062 0.5 * (0.125) + 0.5 * () position: chr9:71740063#chr9:72608340,reading-frame: out-of-frame,type: duplication/5'-5',split_reads1: 9,split_reads2: 1,discordant_mates: 1,coverage1: 1013,coverage2: 2,confidence: high
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