This track shows over 8.75 million single nucleotide variants (SNVs) and over 600,000 insertions or deletions (indels) as well as exome variant calling regions in 60,706 unrelated individuals sequenced as part of various population genetic and disease-specific studies collected by the Exome Aggregation Consortium (ExAC), release 0.3. 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 release files README.release0.3 and README.population_annotations respectively.
For the variants subtrack, in "dense" mode, a vertical line is drawn at the position of each variant. In "pack" 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.
Thanks to the Exome Aggregation Consortium for making these data available in advance of publication. The data are released under a Fort Lauderdale Agreement; please do not publish genome-wide analyses of these data until after the ExAC flagship paper has been published (estimated to be in 2015).
Exome Aggregation Consortium (ExAC), Cambridge, MA (http://exac.broadinstitute.org), release 0.3, downloaded Mar. 30, 2015.