Additional file 1 of Combining a prioritization strategy and functional studies nominates 5’UTR variants underlying inherited retinal disease

Additional file 1: Table S1. Custom diagnostic gene panel comprising all IRD genes listed in either the Retinal disorders panel (v2.195) from Genomics England PanelApp or RetNet. Table S2. Publicly available multi-omics datasets derived from human retina used in this study. Table S3. Overview of the IRD sub-cohort from the Rare Disease arm of the 100,000 Genomes Project (Genomics England). Table S4. Primer sequences used in this study. Table S5. Overview of selected canonical and non-canonical protein-coding transcripts of IRD genes and their expression in adult human retina. Table S6. Genomic coordinates (GRCh38) of the regions in which variants were searched in this study (5’UTR analysis file). Table S7. Overview of the structure of 5'UTRs of the transcripts included in this study. Table S8. Comparison of 5'UTRs of non-canonical transcripts with respect to their corresponding canonical isoforms. Table S9. Overview of the performance of commercial exome capture designs on the 5’UTRs screened in this study. Table S10. Overview of the performance of commercial exome capture kits mostly used for the generation of our in-house WES data considering strict and padded designs. Table S11. Overview of all 5’UTR variants reported in IRD genes submitted to the ClinVar database. Table S12. Summarized overview of the distribution of 5'UTR variants assigned to more than one functional category. Table S13. Overview of the span of internal ribosomal entry sites (IRES) contained in the 5'UTR of IRD genes. Table S14. Illustration of the designed prioritization strategy applied to a selection of the identified variants. Table S15. Overview of additional variants reported for patients F5, F8, F11. Table S16. Overview of the 11 patients carrying the RDH12:c.701G>A (p.Arg234His) variant found in cis with RDH12:c.-123C>T.