TogoVar Downloadable data

Last Updated: 2022/10/5

See https://grch38.togovar.org/doc/datasets about the datasets.
--------------------------------------------

2. Molecular annotation

Key values that identify one record: tgv_id and transcript_id

Variable name                                     Description
---------------------------------------------------------------------
tgv_id                                            :Togovar ID
rs                                                :dbSNP rs number
chr                                               :chromosome number
position_grch38                                   :chromosomal position on GRCh38
ref                                               :reference allele
alt                                               :alternative allele
symbol                                            :HGNC gene symbol
transcript_id                                     :Ensembl transcript ID
consequence                                       :molecular consequence predicted by Variant Effective Predictor
sift_qualitative_prediction                       :qualitative prediction by SIFT
sift_value                                        :SIFT value
polyphen2_qualitative_prediction                  :qualitative prediction by PolyPhen2
polyphen2_value                                   :PolyPhen2 value