Additional file 3 of nanotatoR: a tool for enhanced annotation of genomic structural variants

Additional file 3: Supplementary Table S2. Primary gene list generated for NA24385 (GM24385) dataset filtration using the term Osteoporosis. A total of 307 genes were extracted (the UGT2B17 gene is highlighted). Columns show: Genes: Primary gene symbols. Terms: Query term associated with each gene. Each cell shows the gene symbol and, between parentheses, the query term and the database (Gene, OMIM, GTR or ClinVar) from which each gene was extracted. Clinical Significance: Only genes for which likely pathogenic or pathogenic variants were found in ClinVar are displayed in this column. The parentheses match the database order in column 2, displayed as (−, −, Pathogenic/Likely Pathogenic) to indicate the information is from ClinVar and not Gene or OMIM.