exac.transcript: alias: description: The Exome Aggregation Consortium (ExAC) is a coalition of investigators seeking to aggregate and harmonize exome sequencing data from a variety of large-scale sequencing projects, and to make summary data available for the wider scientific community. The data pertains to unrelated individuals sequenced as part of various disease-specific and population genetic studies and serves as a reference set of allele frequencies for severe disease studies. This collection references transcript information. forward: http://exac.broadinstitute.org/transcript/${ac} institution: Exome Aggregation Consortium (ExAC), Cambridge, Massachusetts location: USA more: http://exac.broadinstitute.org/ name: ExAC Transcript at Exome Aggregation Consortium pattern: ^ENST\d{11}$ prefixed: false primary: false probe: http://exac.broadinstitute.org/transcript/ENST00000407236 provider: provider_id: MIR:00100724 redirect: http://exac.broadinstitute.org/transcript/$id sort_score: 4 state: 100:Up subject: phenotype; genome; human synonym: CPC test: ENST00000407236 type: scheme