Content
This example shows findings from an assessment of genes of interest from an oncology study with the purpose of determining the variation in short sequences of nucleotides in those genes. Short variations are generally defined as insertions or deletions of fifty base pairs or less when compared to a reference sequence. In this example an insertion was found for the BAP1 gene and a deletion was found for the CYP2D6 gene. The identifier for the genome reference used to generate the reported result is shown in GFGENREF. The designation (name or number) of the chromosome or contig on which the variant appears is shown in GFCHROM. The published symbol for the gene of interest is shown in GFSYM. The description of the type of genomic entity that is represented by the published symbol in GFSYM is shown in GFSYMTYP as GENE WITH PROTEIN PRODUCT. The location within a sequence for the observed value in GFORRES is shown in GFGENLOC. The filename and/or path to external data not stored in the same format and possibly not the same location as the other data for a study is shown in GFFXN.