Kaviar (~Known VARiants) is a compilation of SNVs, indels, and complex variants observed in humans, designed to facilitate testing for the novelty and frequency of observed variants.
- Kaviar contains 169 million SNV sites (including 37M not in dbSNP) and incorporates data from 34 projects encompassing 77,238 individuals (13.0K whole genome, 64.3K exome).
- Kaviar also contains 48 million short indels and substitutions from a subset of the data sources.
- Kaviar excludes cancer genomes but includes some data from cell lines and individuals affected by disease.
- An effort was made to exclude data from related individuals.
- Release notes, known issues, and changelog
- Auxiliary info for some data sources.
- Treemap depiction of sources.
- Caution: variant novelty need not imply functional or clinical relevance. Conversely, known variants may have unknown functional implications. In some cases, even the reference form may be the detrimental variant.