High Confidence Variants

File name: {Sample_ID}_HighConfidenceVariants.csv

Contains the high confidence fusion and splice variant calls.

High confident fusions are fusions targeted by our panel with passing filter (KeepFusions column = True in the {Sample_ID}_Fusions.csv). There are a total of 55 genes targeted for fusion calls. The fusion is reported if at least one gene of the gene pair is in the targeted gene list.

Each reported gene fusion has the following information: breakpoint 1, breakpoint 2, gene 1 reference reads, gene 2 reference reads, score.

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The order of gene1/gene2 fusion reported in the Gene Fusion column does not indicate directionality of the fusion. For any fusion of interest, search for the gene pair in both orientations.

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Fusions with overlapping genes are denoted by a semicolon. For example, Gene1;Gene2/Gene 3 indicates possible fusion event Gene1/Gene3 and Gene2/Gene3.

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The fusion variants are sorted, in ascending order, by Gene 1, then by Gene 2, then by Gene 1 Breakpoint, and then by Gene 2 Breakpoint.

Highconfidence splice variant calls are splice variants targeted by the panel (total of 3 genes) with a passing filter.

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Each reported splice variant has the following information: Affected Exon(s), Transcript, Breakpoint Start, Breakpoint End, Splice Supporting Reads, Reference Reads, and score.

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The splice variants are sorted by, in ascending order, Gene, then by Transcript, then by Breakpoint Start, and then by Breakpoint End.

For Research Use Only. Not for use in diagnostic procedures.