Gene annotation | Variant function | Exonic, intronic, intergenic, UTR, etc |
Gene | Impacted gene or neighbouring gene (with distance) |
Exonic variant function | Non-synonymous, synonymous, stopgain, etc |
AAChange | mRNA and amino acid change for coding variants |
Variation databases | ESP5400_ALL | Allele frequency in 5400 NHLBI-ESP exomes |
1000G_ALL | Allele frequency in 1000 Genomes Project (currently, version 2012 Feb) |
dbSNP | dbSNP identifier (currently, version 135) |
Functional prediction | AVSIFT | Base-level SIFT scores |
LJB_SIFT | 1-SIFT scores and predictions (D: damaging, T: tolerated) |
LJB_PolyPhen2 | PolyPhen 2 scores and predictions (D: probably damaging; P: possibly damaging; B: bening) |
LJB_LRT | LRT scores and predictions (D: deleterious; N: neutral; U: unknown) |
LJB_MutationTaster | MutationTaster scores and predictions (A: disease_causing_automatic; D: disease_causing; N: polymorphism; P: polymorphism_automatic) |
LJB_PhyloP | PhyloP conservation scores and predictions (C: conserved, N: non-conserved) |
GERP++ | GERP++ scores for exonic variants |
Region annotation | Conserved | Region-level phastCons LOD scores |
SegDup | Located in segmental duplication region and the sequence identity score |