“TogoVar” (https://togovar.org/), a comprehensive Japanese genetic variation database, is continuously adding new functions and expanding data. We are pleased to announce the release of the following new features.

• Addition of annotation: We have added the results of AlphaMissense (Cheng et al. 2023), an algorithm predicting the pathogenicity of missense variants that alter the amino acid sequence of proteins. AlphaMissense utilizes AlphaFold2 (Jumper et al. 2021), a method for predicting the three-dimensional structure of proteins, to achieve higher prediction accuracy than conventional methods.

• Update of dataset: The Genome Aggregation Database (gnomAD) has been updated to version 4.0. This update significantly increased the number of individuals whose whole exomes have been analyzed. For more details, please see “What’s in gnomAD”.

You can check the History page of the TogoVar website for information on previous feature additions.