Suzanne de Bruijn

269 Exploring the missing heritability in subjects with hearing loss and EVA Table S6. Heterozygous variants in (predicted) cis regulatory elements of SLC26A4 Case Class Variant gnomAD AF (%) Regulatory element Source Identifier Enhancer score Enhancer- gene score PhyloP SLC002 M1 Chr7:107220628C>A -1 Chr7: 107219645-107223646 GeneHancer V5 GH07J107579 2.05 10.54 -1.143 SLC045 M1 Chr7:107384987C>G 0.19 Chr7:107382558-107387330 GeneHancer V5 GH07J107742 2.25 10.63 0.183 A list of potential cis regulatory elements of SLC26A4 (GeneHancer V5 2 and EnhancerAtlas V2 3 ) was screened for the presence of rare heterozygous variants (allele frequency ≤0.5%) in available whole genome sequencing datasets. For none of the variants, the loss of a transcription factor binding site (TFBS) is predicted (JASPAR database 4 , >80% TFBS confidence score and a delta score of >10%). gnomAD AF, allele frequency (%) in gnomAD database V.2.1.1; Regulatory element, genomic position of regulatory element according to GRCh37/hg19; Identifier; unique identifier of regulatory element as accessible in GeneCards 5 , Enhancer score and Enhancer-gene score of regulatory element as provided by the GeneHancer database; PhyloP 6 , nucleotide evolutionary conservation score.