The gnomAD tracks show variants from 123,136 exomes and 15,496 whole genomes of unrelated individuals
sequenced as part of various population-genetic and disease-specific studies collected by the Genome Aggregation Database (gnomAD), release 2.0.2.
Raw data from all studies have been reprocessed through a unified pipeline and jointly
variant-called to increase consistency across projects. For more information on the processing
pipeline and population annotations, see the following blog post
and the 2.0.2 README.
Display Conventions
For the Coverage subtracks:
The Average Sample Coverage graphs display the mean and median read depth of the samples
at each position.
The nX Coverage Percentage graphs display the percentage of samples whose read
depth is at least 1X, 5X, 10X, 15X, 20X, 25X, 30X, 50X, and 100X.
For the Variants subtracks:
In mode, a vertical line is drawn at the position of
each variant.
In mode, "ref" and "alt" alleles are
displayed to the left of a vertical line with colored portions corresponding to allele counts.
Hovering the mouse pointer over a variant pops up a display of alleles and counts.
The details for variants include extensive tag=value annotations extracted from the
INFO column of gnomAD VCF files, listed under the label "INFO column annotations".
The tags beginning with GC list genotype counts in an order that is
fairly intuitive when a variant has two alleles:
homozygous reference, heterozygous, homozygous alternate.
However, when there are multiple alternate alleles, the number of combinations increases
and the order of genotypes listed is a bit more complicated. If the alternate alleles
are named alt1, alt2, alt3, ... altN, then the order of genotype counts follows this pattern:
The raw data can be explored interactively with the
Table Browser, or the Data Integrator. For
automated analysis, the data may be queried from our REST API, and the genome annotations are stored in files that
can be downloaded from our download server, subject
to the conditions set forth by the gnomAD consortium (see below). Coverage values
for the genome are in bigWig files in
the coverage/ subdirectory. Variant VCFs can be found in the vcf/ subdirectory.