Gene set

You can provide annotation information for specific genes of interest when you import a gene set annotation source file. The file lists gene names and categories for those genes.

  • The gene set annotation source file must be a TXT format file with two, tab-separated columns with the gene name in the first column and a corresponding category for the gene in the second column. Entries for the columns must be comma-separated gene symbols, followed by a tab character, and any annotation string to describe the gene category.

  • The file can include an optional heading name for the columns. The second column name is used as the annotation key name. If the heading line is not provided, the default annotation key name of Name is used.

The information in the gene set annotation source file is used in the following ways in the analysis results:

  • Information from the second column of the gene set file is added to matching variants in the analysis results. The category name that is assigned to the gene is added to the Analysis Results screen and to downloaded TSV variant files.

  • In the Analysis Results screen, you can create a filter that is based on the gene category name. You can filter the results on any of the values that appear in the second column.

Here is an example file: 

#Geneset5    Disease 
Gene1,Gene2  disease1 
Gene3        disease2 
Gene4,Gene5,Gene6    disease3 
Gene7,Gene8  disease4

To import a gene set annotation source file, see t_Import new or custom annotation sources_IR.