score. The mutation score is based on the evolutionary conservation of the position in alignments with other placental mammals. The phyloP package (ref. 48) was used to estimate conservation. The ncSNP impact score is the product of the functional element and mutation effect scores. If the data required to compute the two scores were missing for one, but not the other, then the missing score was assigned a non-zero value less than the scores observed for all positions with data present. This prevents evidence for the functional relevance of a SNP from one source from being completely ignored if the other is not present. Thus, all ncSNPs with non-zero impact scores have some evidence of functional relevance.
