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
collected by the
Exome Aggregation Consortium (ExAC),
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
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.
The raw data can be explored interactively with the
Table Browser, or the
For automated analysis, the genome annotation is stored in a bigBed file that can be downloaded from the
The underlying data files for this track are called
ExAC.r0.3.sites.vep.hg19.vcf.gz and exacCallingRegions.bb.
Individual regions or the whole genome annotation can be obtained using our tool bigBedToBed
which can be compiled from the source code or downloaded as a precompiled binary
for your system. Instructions for downloading source code and binaries can be found
The tool can also be used to obtain only features within a given range, for example:
bigBedToBed http://hgdownload.soe.ucsc.edu/gbdb/hg19/ExAC/exacCallingRegions.bb -chrom=chr6 -start=0 -end=1000000 stdout
Please refer to our mailing list archives
for questions, or our Data Access FAQ for more information.
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 email
with any further questions and please reference the 2016 paper.
Exome Aggregation Consortium (ExAC), Cambridge, MA
release 0.3, downloaded Mar. 30, 2015.
Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, O'Donnell-Luria AH, Ware JS, Hill
AJ, Cummings BB et al.
Analysis of protein-coding genetic variation in 60,706 humans.
Nature. 2016 Aug 17;536(7616):285-91.
PMID: 27535533; PMC: PMC5018207