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rna_s1221_S42.fusions.csv
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s3://natera-platform-sandbox/users/smarinkovic/rnapipeline_vcf_bgzip_final_test/fusionreport/rna_s1221_S42/rna_s1221_S42.fusions.csv
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rnapipeline_vcf_bgzip_final_test
Published
Jun 03, 2026 6:10 AM

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Fusion Databases Score Explained score arriba starfusion
FGFR3--TACC3 COSMIC,Mitelman,FusionGDB2 0.625 0.5 * (0.125 + 0.125) + 0.5 * (0.500 + 0.500 + 0.000) position: chr4:1806934#chr4:1739702,reading-frame: in-frame,type: duplication,split_reads1: 19,split_reads2: 19,discordant_mates: 1,coverage1: 81,coverage2: 162,confidence: high position: chr4:1806934:+#chr4:1739702:+,junction_reads: 38,spanning_reads: 1,ffmp: 3.9283
KIF5B--RET COSMIC,Mitelman,FusionGDB2 0.625 0.5 * (0.125 + 0.125) + 0.5 * (0.500 + 0.500 + 0.000) position: chr10:32017143#chr10:43114480,reading-frame: in-frame,type: inversion,split_reads1: 1,split_reads2: 24,discordant_mates: 1,coverage1: 208,coverage2: 68,confidence: high position: chr10:32017143:-#chr10:43114480:+,junction_reads: 26,spanning_reads: 1,ffmp: 2.7196
LMNA--NTRK1 COSMIC,Mitelman,FusionGDB2 0.625 0.5 * (0.125 + 0.125) + 0.5 * (0.500 + 0.500 + 0.000) position: chr1:156130773#chr1:156874906,reading-frame: in-frame,type: deletion,split_reads1: 15,split_reads2: 9,discordant_mates: 0,coverage1: 311,coverage2: 93,confidence: high position: chr1:156130773:+#chr1:156874906:+,junction_reads: 24,spanning_reads: 0,ffmp: 2.4174
FGFR3--BAIAP2L1 COSMIC,Mitelman,FusionGDB2 0.625 0.5 * (0.125 + 0.125) + 0.5 * (0.500 + 0.500 + 0.000) position: chr4:1806934#chr7:98362432,reading-frame: in-frame,type: translocation,split_reads1: 22,split_reads2: 2,discordant_mates: 0,coverage1: 81,coverage2: 8,confidence: high position: chr4:1806934:+#chr7:98362432:-,junction_reads: 24,spanning_reads: 0,ffmp: 2.4174
ETV6--NTRK3 COSMIC,Mitelman,FusionGDB2 0.625 0.5 * (0.125 + 0.125) + 0.5 * (0.500 + 0.500 + 0.000) position: chr12:11869969#chr15:87940753,reading-frame: in-frame,type: translocation,split_reads1: 11,split_reads2: 3,discordant_mates: 0,coverage1: 146,coverage2: 7,confidence: high position: chr12:11869969:+#chr15:87940753:-,junction_reads: 14,spanning_reads: 0,ffmp: 1.4102
CD74--ROS1 COSMIC,Mitelman,FusionGDB2 0.562 0.5 * (0.125) + 0.5 * (0.500 + 0.500 + 0.000) position: chr5:150404680:-#chr6:117324415:-,junction_reads: 14,spanning_reads: 1,ffmp: 1.5109
EGFR--SEPTIN14 Mitelman 0.375 0.5 * (0.125 + 0.125) + 0.5 * (0.500) position: chr7:55200413#chr7:55796092,reading-frame: in-frame,type: inversion,split_reads1: 7,split_reads2: 6,discordant_mates: 0,coverage1: 13,coverage2: 67,confidence: high position: chr7:55200413:+#chr7:55796092:-,junction_reads: 13,spanning_reads: 0,ffmp: 1.3094
TFG--NTRK1 COSMIC,Mitelman,FusionGDB2 0.625 0.5 * (0.125 + 0.125) + 0.5 * (0.500 + 0.500 + 0.000) position: chr3:100732672#chr1:156874571,reading-frame: out-of-frame,type: translocation,split_reads1: 7,split_reads2: 5,discordant_mates: 0,coverage1: 248,coverage2: 34,confidence: high position: chr3:100732672:+#chr1:156874571:+,junction_reads: 12,spanning_reads: 0,ffmp: 1.2087
SLC45A3--BRAF COSMIC,Mitelman,FusionGDB2 0.625 0.5 * (0.125 + 0.125) + 0.5 * (0.500 + 0.500 + 0.000) position: chr1:205680394#chr7:140794467,reading-frame: .,type: translocation,split_reads1: 1,split_reads2: 11,discordant_mates: 0,coverage1: 1,coverage2: 195,confidence: high position: chr1:205680394:-#chr7:140794467:-,junction_reads: 12,spanning_reads: 0,ffmp: 1.2087
TPM3--NTRK1 COSMIC,Mitelman,FusionGDB2 0.625 0.5 * (0.125 + 0.125) + 0.5 * (0.500 + 0.500 + 0.000) position: chr1:154170400#chr1:156874571,reading-frame: in-frame,type: inversion,split_reads1: 4,split_reads2: 4,discordant_mates: 1,coverage1: 692,coverage2: 34,confidence: high position: chr1:154170400:-#chr1:156874571:+,junction_reads: 12,spanning_reads: 1,ffmp: 1.3094
PAX8--PPARG COSMIC,Mitelman,FusionGDB2 0.625 0.5 * (0.125 + 0.125) + 0.5 * (0.500 + 0.500 + 0.000) position: chr2:113235394#chr3:12379704,reading-frame: in-frame,type: translocation,split_reads1: 5,split_reads2: 6,discordant_mates: 0,coverage1: 20,coverage2: 40,confidence: high position: chr2:113235394:-#chr3:12379704:+,junction_reads: 11,spanning_reads: 0,ffmp: 1.108
NCOA4--RET COSMIC,Mitelman,FusionGDB2 0.625 0.5 * (0.125 + 0.125) + 0.5 * (0.500 + 0.500 + 0.000) position: chr10:46012883#chr10:43116584,reading-frame: in-frame,type: inversion,split_reads1: 6,split_reads2: 3,discordant_mates: 0,coverage1: 216,coverage2: 43,confidence: high position: chr10:46012883:-#chr10:43116584:+,junction_reads: 9,spanning_reads: 0,ffmp: 0.9065
CCDC6--RET COSMIC,Mitelman,FusionGDB2 0.625 0.5 * (0.125 + 0.125) + 0.5 * (0.500 + 0.500 + 0.000) position: chr10:59906122#chr10:43116584,reading-frame: in-frame,type: inversion,split_reads1: 5,split_reads2: 3,discordant_mates: 0,coverage1: 122,coverage2: 43,confidence: high position: chr10:59906122:-#chr10:43116584:+,junction_reads: 8,spanning_reads: 0,ffmp: 0.8058
AC015911.9--SLFN12L 0.062 0.5 * (0.125) + 0.5 * () position: chr17:35522279#chr17:35480195,reading-frame: .,type: deletion/read-through,split_reads1: 2,split_reads2: 9,discordant_mates: 0,coverage1: 24,coverage2: 52,confidence: high
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