Overview of all validated non-synonymous variants in the re-genotyping experiment combined with potential functional effects assessed by in silico analysis.

SNV, single nucleotide variant; chr, chromosome; NGS, next-generation sequencing; ESP, Exome Sequencing Project; MAF, minor allele frequency; np, not polymorphic; OR, odds ratio; Con, control; N, number of individuals; AA, amino acid; ESE, exonic splicing enhancer; ESS, exonic splicing silencer; NT, nucleotide.Location on chr. 12 is according to the February 2009 Human Reference Sequence (UCSC Genome Browser). Known SNVs are recorded in the dbSNP137 database.1Case: SNV only in cases; Con: SNV only in controls;2N = 2734, variant was present in both the discovery and the replication sample; N = 800, variant was only polymorphic in the discovery sample; N = 1934, variant was only polymorphic in the replication sample3Long isoform is according to the RefSeq annotation NM_182767, the short isoform NM_0180574FASTSNP;5ANNOVAR, phastCons 46-way alignment.6ANNOVAR, phyloP alignment, restricted to non-synonymous variants:+conserved (score >0.95), − non-conserved (score 7SIFT (sorting intolerant from tolerant): − tolerant (score >0.05),+possibly damaging (score 8Panther: − unlikely functional effect (pdeleterious 0.5)9PolyPhen2: − benign (score 0.85).