Annotators
Annotators can be divided into 2 groups:
Tools that predict pathogenicity (bold)
Tools that provide information like databases
cadd_exome (1.6.1) CADD is a tool for scoring the deleteriousness of single nucleotide variants as well as insertion/deletions variants in the human genome.
gnomad_gene (2.2.1) Gene level population statistics from gnomAD
pubmed (1.1.5) articles related to a particular gene
clingen (1.0.1) - NIH-funded resource that defines the clinical relevance of genes and variants
clinpred (1.0.0) - prediction tool to identify disease-relevant nonsynonymous single nucleotide variants
clinvar (2021.10.01) - ClinVar is an archive of reports of the relationships among human variations and phenotypes, archive of interpretations of clinically relevant variants (Uncertain significance, Likely pathogenic, Pathogenic etc.)
mitomap (1.1.0) A human mitochondrial genome database
ncbigene (2019.08.02) - gene descriptions from NCBI (National Center for Biotechnology Information)Gene database.
omim (1.0.0) Catalog of human genes and genetic disorders and traits.
prec (3.6.0)provides a database identifying rare and likely deleterious loss-of-function (LoF) alleles
provean (1.0.0), tool which predicts whether an amino acid substitution or indel has an impact on the biological function of a protein
revel (2020.12.02), ensemble method for predicting the pathogenicity of missense variants based on a combination of scores from 13 individual tools
sift (1.2.0) predicts whether an amino acid substitution affects protein function based on sequence homology and the physical properties of amino acids
GnomADD aggregating and harmonizing both exome and genome sequencing data from a wide variety of large-scale sequencing projects
PharmGKB
dbSNP
The most important annotators for us are ClinVar and dbSNP.