File Info

Filename
aih-tih-sc-6c4b48-R1_A23YTGFLT4_1.fusions.csv
Full Path
s3://natera-rnd-pltf-dev-nextflow-scratch-01/work/be/8f91ac287291b29dd045d81e215012/aih-tih-sc-6c4b48-R1_A23YTGFLT4_1.fusions.csv
Size
10.7 KB
Attempt
Fusion Databases Score Explained score arriba starfusion
XPO1--FAM161A FusionGDB2 0.125 0.5 * (0.125 + 0.125) + 0.5 * (0.000) position: chr2:61481185#chr2:61827258,reading-frame: in-frame,type: duplication,split_reads1: 300,split_reads2: 240,discordant_mates: 11,coverage1: 7755,coverage2: 697,confidence: high position: chr2:61481185:-#chr2:61827258:-,junction_reads: 967,spanning_reads: 13,ffmp: 3.3031
LUC7L3--SERHL 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr17:50746702#chr22:42501625,reading-frame: out-of-frame,type: translocation,split_reads1: 179,split_reads2: 238,discordant_mates: 16,coverage1: 2880,coverage2: 1257,confidence: high position: chr17:50746702:+#chr22:42501625:+,junction_reads: 511,spanning_reads: 16,ffmp: 1.776
SNX31--P3H2 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr8:100596639#chr3:189995442,reading-frame: in-frame,type: translocation,split_reads1: 213,split_reads2: 264,discordant_mates: 41,coverage1: 2039,coverage2: 782,confidence: high position: chr8:100596639:-#chr3:189995442:-,junction_reads: 495,spanning_reads: 41,ffmp: 1.8066
CYP20A1--NBEAL1 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr2:203252109#chr2:203041765,reading-frame: in-frame,type: duplication,split_reads1: 230,split_reads2: 167,discordant_mates: 19,coverage1: 2714,coverage2: 3033,confidence: high position: chr2:203252109:+#chr2:203041765:+,junction_reads: 446,spanning_reads: 19,ffmp: 1.5673
RIT1--SMG5 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr1:155904311#chr1:156268415,reading-frame: out-of-frame,type: duplication,split_reads1: 133,split_reads2: 156,discordant_mates: 12,coverage1: 1508,coverage2: 3243,confidence: high position: chr1:155904311:-#chr1:156268415:-,junction_reads: 296,spanning_reads: 12,ffmp: 1.0381
PRDM15--YIF1B 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr21:41854566#chr19:38309643,reading-frame: in-frame,type: translocation,split_reads1: 141,split_reads2: 141,discordant_mates: 8,coverage1: 936,coverage2: 8844,confidence: high position: chr21:41854566:-#chr19:38309643:-,junction_reads: 288,spanning_reads: 8,ffmp: 0.9977
TEPSIN--NPLOC4 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr17:81238986#chr17:81629805,reading-frame: in-frame,type: duplication,split_reads1: 67,split_reads2: 213,discordant_mates: 0,coverage1: 627,coverage2: 12152,confidence: high position: chr17:81238986:-#chr17:81629805:-,junction_reads: 286,spanning_reads: 0,ffmp: 0.964
RCAN3--GRHL3 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr1:24503150#chr1:24350058,reading-frame: .,type: duplication,split_reads1: 33,split_reads2: 213,discordant_mates: 9,coverage1: 340,coverage2: 23755,confidence: high position: chr1:24503150:+#chr1:24350058:+,junction_reads: 252,spanning_reads: 9,ffmp: 0.8788
MRPL48--PLEKHB1 Mitelman,FusionGDB2 0.375 0.5 * (0.125 + 0.125) + 0.5 * (0.500 + 0.000) position: chr11:73844976#chr11:73649012,reading-frame: out-of-frame,type: duplication,split_reads1: 44,split_reads2: 91,discordant_mates: 4,coverage1: 1765,coverage2: 665,confidence: high position: chr11:73844976:+#chr11:73649012:+,junction_reads: 136,spanning_reads: 5,ffmp: 0.4753
PARP8--RASGRF2 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr5:50797233#chr5:81042877,reading-frame: in-frame,type: deletion,split_reads1: 54,split_reads2: 64,discordant_mates: 8,coverage1: 1367,coverage2: 361,confidence: high position: chr5:50797233:+#chr5:81042877:+,junction_reads: 118,spanning_reads: 7,ffmp: 0.4213
SFI1--RNF185 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr22:31496637#chr22:31187047,reading-frame: .,type: duplication,split_reads1: 1,split_reads2: 101,discordant_mates: 4,coverage1: 415,coverage2: 1133,confidence: high position: chr22:31496637:+#chr22:31187047:+,junction_reads: 104,spanning_reads: 4,ffmp: 0.364
SPINT2--SIPA1L3 FusionGDB2 0.062 0.5 * (0.125) + 0.5 * (0.000) position: chr19:38289191:+#chr19:38182519:+,junction_reads: 95,spanning_reads: 7,ffmp: 0.3438
CAMK1D--ZNF345 0.062 0.5 * (0.125) + 0.5 * () position: chr10:12349910:+#chr19:36892818:+,junction_reads: 88,spanning_reads: 2,ffmp: 0.3033
PNPO--KPNB1 FusionGDB2 0.125 0.5 * (0.125 + 0.125) + 0.5 * (0.000) position: chr17:47941813#chr17:47680020,reading-frame: out-of-frame,type: duplication,split_reads1: 47,split_reads2: 32,discordant_mates: 3,coverage1: 3366,coverage2: 4283,confidence: high position: chr17:47941813:+#chr17:47680020:+,junction_reads: 82,spanning_reads: 3,ffmp: 0.2829
NLRC5--NUP93 Mitelman,FusionGDB2 0.375 0.5 * (0.125 + 0.125) + 0.5 * (0.500 + 0.000) position: chr16:57043604#chr16:56798476,reading-frame: out-of-frame,type: duplication,split_reads1: 22,split_reads2: 56,discordant_mates: 13,coverage1: 1231,coverage2: 2418,confidence: high position: chr16:57043604:+#chr16:56798476:+,junction_reads: 79,spanning_reads: 13,ffmp: 0.3101
VCL--USP54 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr10:74074903#chr10:73530835,reading-frame: out-of-frame,type: inversion,split_reads1: 56,split_reads2: 15,discordant_mates: 0,coverage1: 1416,coverage2: 286,confidence: high position: chr10:74074903:+#chr10:73530835:-,junction_reads: 75,spanning_reads: 0,ffmp: 0.2528
BCKDHA--ANKRD27 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr19:41414157#chr19:32607832,reading-frame: out-of-frame,type: inversion,split_reads1: 17,split_reads2: 42,discordant_mates: 0,coverage1: 2124,coverage2: 6870,confidence: high position: chr19:41414157:+#chr19:32607832:-,junction_reads: 60,spanning_reads: 0,ffmp: 0.2022
EML1--SLC20A2 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr14:99737860#chr8:42444762,reading-frame: in-frame,type: translocation,split_reads1: 17,split_reads2: 32,discordant_mates: 1,coverage1: 66,coverage2: 2705,confidence: high position: chr14:99737860:+#chr8:42444762:-,junction_reads: 50,spanning_reads: 1,ffmp: 0.1719
NFRKB--ZBTB44 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr11:129878309#chr11:130239896,reading-frame: out-of-frame,type: duplication,split_reads1: 28,split_reads2: 13,discordant_mates: 3,coverage1: 1894,coverage2: 1469,confidence: high position: chr11:129878309:-#chr11:130239896:-,junction_reads: 42,spanning_reads: 3,ffmp: 0.1517
TLK2--AC240565.1 0.062 0.5 * (0.125) + 0.5 * () position: chr17:62560126:+#chr17:106864:-,junction_reads: 36,spanning_reads: 0,ffmp: 0.0537
AC060780.1--ANKS1A 0.062 0.5 * (0.125) + 0.5 * () position: chr17:43166980:-#chr6:35017473:+,junction_reads: 29,spanning_reads: 0,ffmp: 0.0961
ARG2--MPP5 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr14:67642363#chr14:67269701,reading-frame: out-of-frame,type: duplication,split_reads1: 14,split_reads2: 2,discordant_mates: 1,coverage1: 218,coverage2: 72,confidence: high position: chr14:67642363:+#chr14:67269701:+,junction_reads: 16,spanning_reads: 1,ffmp: 0.0573
TBC1D19--RBPJ 0.062 0.5 * (0.125) + 0.5 * () position: chr4:26637285:+#chr4:26386353:+,junction_reads: 15,spanning_reads: 1,ffmp: 0.0526
UBE2Q2P1--GOLGA6L10 0.062 0.5 * (0.125) + 0.5 * () position: chr15:84526781:-#chr15:82347629:-,junction_reads: 14,spanning_reads: 0,ffmp: 0.0455
STX16--NPEPL1 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr20:58673711#chr20:58691724,reading-frame: out-of-frame,type: deletion/read-through,split_reads1: 51,split_reads2: 55,discordant_mates: 3,coverage1: 2124,coverage2: 583,confidence: high position: chr20:58673711:+#chr20:58691724:+,junction_reads: 14,spanning_reads: 0,ffmp: 0.0472
PCDHA6--PCDHA13 0.062 0.5 * (0.125) + 0.5 * () position: chr5:140830485#chr5:140978949,reading-frame: in-frame,type: deletion/read-through,split_reads1: 60,split_reads2: 174,discordant_mates: 4,coverage1: 602,coverage2: 709,confidence: high
PCDHA6--PCDHAC2 0.062 0.5 * (0.125) + 0.5 * () position: chr5:140830485#chr5:140978949,reading-frame: in-frame,type: deletion/read-through,split_reads1: 60,split_reads2: 174,discordant_mates: 4,coverage1: 602,coverage2: 709,confidence: high
PCDHA6--PCDHAC1 0.062 0.5 * (0.125) + 0.5 * () position: chr5:140830485#chr5:140978949,reading-frame: in-frame,type: deletion/read-through,split_reads1: 60,split_reads2: 173,discordant_mates: 4,coverage1: 602,coverage2: 709,confidence: high
SORBS2--ZAR1 0.062 0.5 * (0.125) + 0.5 * () position: chr4:185627510#chr4:48490989,reading-frame: .,type: deletion/5'-5',split_reads1: 64,split_reads2: 152,discordant_mates: 5,coverage1: 94,coverage2: 628,confidence: high
LRRC1--RPL31P33 0.062 0.5 * (0.125) + 0.5 * () position: chr6:53882976#chr6:53368671,reading-frame: out-of-frame,type: duplication,split_reads1: 123,split_reads2: 14,discordant_mates: 10,coverage1: 3935,coverage2: 33,confidence: high
RBM14--RBM4 FusionGDB2 0.062 0.5 * (0.125) + 0.5 * (0.000) position: chr11:66617057#chr11:66646027,reading-frame: in-frame,type: deletion/read-through,split_reads1: 49,split_reads2: 90,discordant_mates: 4,coverage1: 9064,coverage2: 5588,confidence: high
TVP23C--CDRT4 FusionGDB2 0.062 0.5 * (0.125) + 0.5 * (0.000) position: chr17:15540433#chr17:15440285,reading-frame: out-of-frame,type: deletion/read-through,split_reads1: 61,split_reads2: 31,discordant_mates: 3,coverage1: 4138,coverage2: 288,confidence: high
HAVCR2--HAVCR2 0.062 0.5 * (0.125) + 0.5 * () position: chr5:157104666#chr5:157106962,reading-frame: in-frame,type: duplication/non-canonical_splicing,split_reads1: 38,split_reads2: 34,discordant_mates: 0,coverage1: 797,coverage2: 888,confidence: high
SLC10A4--SORBS2 0.062 0.5 * (0.125) + 0.5 * () position: chr4:48485142#chr4:185632570,reading-frame: out-of-frame,type: deletion/5'-5',split_reads1: 39,split_reads2: 19,discordant_mates: 0,coverage1: 855,coverage2: 28,confidence: high
ITCH--AL031668.2 0.062 0.5 * (0.125) + 0.5 * () position: chr20:34457474#chr20:34172948,reading-frame: out-of-frame,type: duplication,split_reads1: 47,split_reads2: 5,discordant_mates: 2,coverage1: 4591,coverage2: 12,confidence: high
ITCH--ASIP Mitelman,FusionGDB2 0.312 0.5 * (0.125) + 0.5 * (0.500 + 0.000) position: chr20:34457474#chr20:34172948,reading-frame: out-of-frame,type: duplication,split_reads1: 47,split_reads2: 5,discordant_mates: 2,coverage1: 4591,coverage2: 12,confidence: high
NCOR1--FTLP12 0.062 0.5 * (0.125) + 0.5 * () position: chr17:16119423#chr17:16391613,reading-frame: out-of-frame,type: duplication/5'-5',split_reads1: 29,split_reads2: 2,discordant_mates: 2,coverage1: 3177,coverage2: 3,confidence: high
METTL17--PRR14L 0.062 0.5 * (0.125) + 0.5 * () position: chr14:20995951#chr22:31711164,reading-frame: out-of-frame,type: translocation/5'-5',split_reads1: 20,split_reads2: 2,discordant_mates: 0,coverage1: 2661,coverage2: 4,confidence: high
TLK2--FAM157A 0.062 0.5 * (0.125) + 0.5 * () position: chr17:62560126#chr3:198180755,reading-frame: .,type: translocation,split_reads1: 3,split_reads2: 14,discordant_mates: 0,coverage1: 2528,coverage2: 708,confidence: high
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