File Info

Filename
aih-tih-sc-c35cc3-R1_A23YTGFLT4_1.fusions.csv
Full Path
s3://natera-rnd-pltf-dev-nextflow-scratch-01/work/ae/6ae20c06e1c32a8fbc3c17331dfba9/aih-tih-sc-c35cc3-R1_A23YTGFLT4_1.fusions.csv
Size
6.1 KB
Attempt
Fusion Databases Score Explained score arriba starfusion
ERBB2--FBXL20 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr17:39700311#chr17:39343241,reading-frame: out-of-frame,type: inversion,split_reads1: 300,split_reads2: 300,discordant_mates: 0,coverage1: 65535,coverage2: 7453,confidence: high position: chr17:39700311:+#chr17:39343241:-,junction_reads: 1010,spanning_reads: 0,ffmp: 4.0289
ASPH--GDAP1 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr8:61633683#chr8:74360137,reading-frame: in-frame,type: inversion,split_reads1: 288,split_reads2: 221,discordant_mates: 1,coverage1: 9088,coverage2: 2123,confidence: high position: chr8:61633683:-#chr8:74360137:+,junction_reads: 544,spanning_reads: 1,ffmp: 2.174
NOTCH2--TOP2A 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr1:120069334#chr17:40416895,reading-frame: out-of-frame,type: translocation,split_reads1: 105,split_reads2: 126,discordant_mates: 0,coverage1: 9810,coverage2: 5836,confidence: high position: chr1:120069334:-#chr17:40416895:-,junction_reads: 324,spanning_reads: 0,ffmp: 1.2591
CWC25--AC246680.1 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr17:38825166#chr1:143934600,reading-frame: out-of-frame,type: translocation,split_reads1: 30,split_reads2: 13,discordant_mates: 0,coverage1: 1042,coverage2: 21,confidence: high position: chr17:38825166:-#chr1:143934600:+,junction_reads: 44,spanning_reads: 0,ffmp: 0.1755
AP2B1--DNAJC7 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr17:35682824#chr17:41989557,reading-frame: out-of-frame,type: inversion,split_reads1: 15,split_reads2: 22,discordant_mates: 0,coverage1: 2125,coverage2: 673,confidence: high position: chr17:35682824:+#chr17:41989557:-,junction_reads: 39,spanning_reads: 0,ffmp: 0.1556
AC011824.2--LASP1 0.062 0.5 * (0.125) + 0.5 * () position: chr17:33569457:+#chr17:38898412:+,junction_reads: 38,spanning_reads: 0,ffmp: 0.1516
IGL-@-ext--KLC1 0.062 0.5 * (0.125) + 0.5 * () position: chr22:22895376:-#chr14:103713947:+,junction_reads: 33,spanning_reads: 0,ffmp: 0.0103
AL445231.1--IKZF3 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr1:117050167#chr17:39832151,reading-frame: .,type: translocation,split_reads1: 6,split_reads2: 21,discordant_mates: 0,coverage1: 16,coverage2: 804,confidence: high position: chr1:117050167:-#chr17:39832151:-,junction_reads: 29,spanning_reads: 0,ffmp: 0.1157
CWC25--SRGAP2C 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr17:38825166#chr1:121186905,reading-frame: out-of-frame,type: translocation,split_reads1: 13,split_reads2: 5,discordant_mates: 0,coverage1: 1042,coverage2: 52,confidence: high position: chr17:38825166:-#chr1:121186905:+,junction_reads: 18,spanning_reads: 0,ffmp: 0.0718
TLK2P1--AC110079.1 0.062 0.5 * (0.125) + 0.5 * () position: chr17:34039043:-#chr4:118595912:+,junction_reads: 11,spanning_reads: 0,ffmp: 0.0404
MED1--AL445231.1 0.062 0.5 * (0.125) + 0.5 * () position: chr17:39434249:-#chr1:117050334:-,junction_reads: 11,spanning_reads: 0,ffmp: 0.0439
CACNB1--LINC01666 0.062 0.5 * (0.125) + 0.5 * () position: chr17:39191474:-#chr21:8761276:+,junction_reads: 11,spanning_reads: 0,ffmp: 0.0239
CACNB1--AC134878.2 0.062 0.5 * (0.125) + 0.5 * () position: chr17:39191474:-#chrY:11212802:-,junction_reads: 11,spanning_reads: 0,ffmp: 0.012
NOTCH2--NOTCH2 0.062 0.5 * (0.125) + 0.5 * () position: chr1:120063680#chr1:119969618,reading-frame: .,type: inversion/5'-5',split_reads1: 218,split_reads2: 301,discordant_mates: 0,coverage1: 894,coverage2: 14624,confidence: high
LSM14A--AC008794.1 0.062 0.5 * (0.125) + 0.5 * () position: chr19:34172763#chr19:31468033,reading-frame: out-of-frame,type: inversion,split_reads1: 29,split_reads2: 14,discordant_mates: 0,coverage1: 1353,coverage2: 21,confidence: high
LSM14A--LINC02841 0.062 0.5 * (0.125) + 0.5 * () position: chr19:34172763#chr19:31468033,reading-frame: out-of-frame,type: inversion,split_reads1: 29,split_reads2: 14,discordant_mates: 0,coverage1: 1353,coverage2: 21,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: 8,split_reads2: 28,discordant_mates: 0,coverage1: 97,coverage2: 397,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: 16,split_reads2: 20,discordant_mates: 0,coverage1: 645,coverage2: 264,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: 14,split_reads2: 20,discordant_mates: 1,coverage1: 441,coverage2: 1543,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: 14,split_reads2: 20,discordant_mates: 1,coverage1: 441,coverage2: 1543,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: 14,split_reads2: 20,discordant_mates: 1,coverage1: 441,coverage2: 1543,confidence: high
NOTCH2--RNU6-465P 0.062 0.5 * (0.125) + 0.5 * () position: chr1:120069334#chr1:120120633,reading-frame: out-of-frame,type: inversion,split_reads1: 9,split_reads2: 22,discordant_mates: 0,coverage1: 9810,coverage2: 235,confidence: high
NPHP3--ACAD11 0.062 0.5 * (0.125) + 0.5 * () position: chr3:132681914#chr3:132644896,reading-frame: in-frame,type: deletion/read-through,split_reads1: 12,split_reads2: 9,discordant_mates: 0,coverage1: 469,coverage2: 673,confidence: high
NOTCH2--SEC22B Mitelman,FusionGDB2 0.312 0.5 * (0.125) + 0.5 * (0.500 + 0.000) position: chr1:120069334#chr1:120161863,reading-frame: out-of-frame,type: inversion/5'-5',split_reads1: 6,split_reads2: 11,discordant_mates: 0,coverage1: 9810,coverage2: 145,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: 7,split_reads2: 6,discordant_mates: 0,coverage1: 123,coverage2: 274,confidence: high
26 rows