Most SNPs (98%) occur within noncoding regions (noncoding SNPs, ncSNPs). An impact score of each ncSNP was calculated and used for prioritization (Supplementary Fig. 1d, Supplementary Data 9 and Supplementary Note 1). Variants at splice sites result in production of non-functional or abnormal proteins and are known to contribute to diseases13. We detected 70 SNPs that changed conserved bases at splice sites, including 29 acceptor sites (GT) and 41 donor sites (AG) (Supplementary Data 5). In addition, 26 of the ncSNPs are predicted to alter processed miRNA sequence (Supplementary Data 10 and Supplementary Note 1).
