2209 data released

[julesjacobsen]

New data update:

Direct links:

2209_hg19
2209_hg38
2209_phenotype

Exomiser 2209 database data sources

Genomic Data

Transcripts:

• ensembl 87 (GRCh37)
• ensembl 99 (GRCh38)

Frequency sources:

• gnomAD exomes r2.0.1

• gnomAD genomes r2.0.1

• ExAC 0.3

• ESP6500SI-V2-SSA137.GRCh38-liftover

• UK10K_COHORT.20160215

• dbSNP 155

• gnomAD-SV v2.1

• dbVar 2022-08-03

• DGV 2020-02-25

• GONL 2016-10-13

• DECIPHER 2015

Pathogenicity sources:

• dbNSFP 4.0b2a (Polyphen, MutationTaster, SIFT, MVP, REVEL)
• ClinVar 2022-08-24

Phenotype data

• OMIM 2022-08-26
• Orphanet 2022-06-14
• HPO 2022-06-11
• HPO annotations 2022-06-11
• IMPC release 17 2022-08-01
• MP 2022-08-04
• Zfin downloaded 2022-08-27
• ZP downloaded 2022-08-27