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Variant and Gene Filters

Use the Variant and Gene filters to filter data by general information about the variant or gene. Some filter options use imported lists. For information about importing custom lists, see Import Region List and Add a Gene List.

Filter

Description

Variant Type

Filters data by variant type.

• Small Variants—SNVs, MNVs, or indels.
• CNV—Copy number variants.
• SV—Structural variants.

Genomic Regions

Filters data by specified chromosomes, coordinates of gene locations, the genomic regions of interest identified in an imported regions list, or a specific gene.

• The Chromosomes option enables a list of chromosomes to select from.
• The Coordinates option enables the Chr drop-down list and From and To options. Use these fields to select the chromosome and applicable region.
• The Region List option enables a drop-down list to select a regions list imported in BED file format.
• The Gene option enables a field to select a gene.

dbSNP

Filters data by variants with annotations in dbSNP.

COSMIC

Filters data by variants with annotations in COSMIC.

Variant Length

Filters CNV and SV data by variant length.

Number of Copies

Filters CNV data by number of copies.

Gene List

Filters data to include the genes specified in an imported gene list (*.txt) file.

OMIM

Filters data by whether a variant corresponds to an OMIM variant.

pLI

Filters data by the probable loss of function intolerance score.