Intragenic deletion

First line must be the header line, with following columns. Separate columns by tab. Order of columns does not matter.

  • gene
    • Gene symbol.
  • isoform
    • RefSeq/Ensembl accession of the isoform.
  • rnaPosition
    • optional.
    • RNA nucleotide position of the 5' end of the deleted region on the gene transcript, relative to transcription start site. 1-based.
  • rnaDellength
    • RNA nucleotide length of the deleted region, required if "rnaPosition" is used.
  • chr
    • Chromosome name, optional
  • chr_start
    • Start genomic position, required if "chr" is used.
  • chr_stop
    • Stop genomic position, required if "chr" is used.

Other optional columns:

  • Patient
  • Sample
  • Sampletype
  • disease

Data lines starting with "#" will be ignored.