Additional file 1 of GeneTerpret: a customizable multilayer approach to genomic variant prioritization and interpretation

Additional file 1: Materials file. Table S2. GeneTerpret modules and respective databases with links to the used data. Table S3. The required VCF file annotation, headers and descriptions. Table S4. The standard format for the PED file. Table S5. Variant Interpretation Program (VIP) logic (pseudocode) for variant classification following ACMG criteria. Table S6. Bins Used for Ranking GeneTerpret Output. Table S7. Comparison of GeneTerpret output and previous manual interpretation of 10 trios. Table S8. Comparison of GeneTerpret output and previous manual interpretation of a cohort with 20 TOF patients. Findings from manual interpretation have been reported for five individuals in this cohort.