SNPs affecting splice-sites.

1See Figure 2 for a graphical depiction of the two alternative isoform structures and the relative postion of the SNP-affected splice-site.
2Upper-case bases represent consensus donor/acceptor site and bold font indicates SNP.
3Maximum entropy score as calculated using MaxEntSCan [15].
4Averaged PLIER-summarized expression score for each homozygous genotype.
5Ancestral genotype, as inferred from the chimpanzee genome.
6Cases for which an inverse correlation between splice-site strength and probeset expression is expected based on the two isoform structures and the position of the affected splice-site, as shown in Figure 2.