Additional file 3 of A validated heart-specific model for splice-disrupting variants in childhood heart disease

Additional file3: Table S3. Myocardial RNA outlier splicing events and confirmed associated DNA splice variants in CHD Discovery cohort (n=106). 100 rare (internal MAF < 0.01) genome-wide DNA splice-disrupting variants within the Discovery cohort were confirmed by myocardial RNA-Seq. In addition, six significant RNA splicing events were observed without a causative DNA splice-disrupting variant in Tier 1 CHD genes or haploinsufficiency-intolerant (pLI≥0.9) Tier 2 CHD genes. All variant features used in random forest models are included. Clinical features of the proband harboring each RNA splicing event are additionally shown.