2512 data release

[julesjacobsen]

Exomiser 2512 database release

This is primarily a phenotype data release, although the ClinVar data and gene identifiers have been updated in the genomic data sources.

Compatible with Exomiser versions:

• 15.0.0
• 14.1.0
• 14.0.0

Direct links:

2512_hg19
2512_hg38
2512_phenotype

Exomiser 2512 database data sources

Genomic Data

Transcripts:

• ensembl 87 (GRCh37)
• ensembl 112 (GRCh38, MANE)

Frequency sources:

• gnomAD exomes r2.1.1 (GRCh37), r4.1 (GRCh38)

• gnomAD genomes r2.1.1 (GRCh37), r4.1 (GRCh38)

• ESP6500SI-V2-SSA137.GRCh38-liftover

• UK10K_COHORT.20160215

• dbSNP 156

• gnomAD-SV v2.1

• dbVar 2023-09-18

• DGV 2020-02-25

• GONL 2016-10-13

• DECIPHER 2015

Pathogenicity sources:

• dbNSFP 4.5a (Polyphen, MutationTaster, SIFT, MVP, REVEL, AlphaMissense, SpliceAI) _n.b. SpliceAI annotations are free for academic and not-for-profit use; other use requires a commercial license from Illumina, Inc. _
• ClinVar 2025-12-01

Phenotype data

• OMIM 2025-12-03
• Orphanet 2025-06-24
• HPO 2025-11-24
• HPO annotations 2025-11-24
• IMPC release 23.0
• MP 2025-11-19
• Zfin downloaded 2025-12-03
• ZP downloaded 2025-12-03