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  • Variant annotation: Variants were annotated with ANNOVAR [31] version 2015, Mar22 using RefSeq and Ensembl versions 20150322 and the dbNSFP [32] version 2.6 annotations including nine scores for missense mutations (SIFT, PolyPhen2 HDIV, PolyPhen2 HVAR, LRT, MutationTaster, MutationAssessor, FATHMM, MetaSVM, MetaLR), the CADD score, and three conservation-based scores from GERP++, PhyloP and SiPhy.
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