Table 6 Co-located variant-related fields reported by the VEP
Property | Description |
|---|---|
Variant ID | External identifier for variant co-located with input, e.g., rsID from dbSNP |
Somatic | Somatic status of co-located variant |
GMAF | Global minor allele and frequency of co-located variant from combined 1000 Genomes phase 3 populations |
Other frequencies | Frequency data from continental level 1000 Genomes phase 3 data and two NHLBI–Exome Sequencing Project populations |
Clinical significance | Clinical significance status of co-located variant as reported by ClinVar |
Phenotype | Flag indicating known association with a phenotype or disease |
PubMed ID | NCBI PubMed IDs of publications citing co-located variant |