Suzanne de Bruijn

203 Structural variants cause ectopic enhancer-gene contact in retinitis pigmentosa Table S5. Shared heterozygous variants (MAF ≤0.0001, 3 affected individuals) located in the founder haplotype in family UK1 Chr Start End Ref Var gnomAD_G AF Component Gene name chr17 56059537 56059537 T C 0.00003228 intronic VEZF1 chr17 56122144 56122144 T C 0.00003228 intergenic chr17 56293716 56293716 G A . intronic MKS1 chr17 56478605 56478605 T C . intronic RNF43 chr17 56731111 56731111 G A . intronic TEX14 chr17 56775478 56775478 T A . intronic RAD51C chr17 56783547 56783547 T C . intronic RAD51C chr17 56834462 56834462 C A . intronic PPM1E chr17 57107553 57107553 G A . intronic TRIM37 chr17 57260755 57260755 A G 0.0001 intronic PRR11 chr17 57548764 57548764 T C . ncRNA_intronic LINC01476 chr17 57616479 57616479 A G 0.00009681 intergenic chr17 57641653 57641653 G A 0.000097 intergenic chr17 57688592 57688592 T C . intergenic chr17 57918969 57918969 G C . UTR3 VMP1 chr17 58024808 58024808 A G . UTR3 RPS6KB1 chr17 58108605 58108605 G A . intergenic chr17 58932373 58932373 C T . intronic BCAS3 chr17 59279276 59279276 C T 0.00006532 intronic BCAS3 chr17 59328755 59328755 C A . intronic BCAS3 chr17 59913924 59913924 C T . intronic BRIP1 chr17 60391209 60391209 G A 0.0001 intergenic chr17 60404484 60404484 C G 0.0001 intergenic chr17 60428327 60428327 G T . intergenic chr17 61687237 61687237 C T 0.00003228 intergenic chr17 61696765 61696765 T A 0.00006906 intergenic chr17 62009718 62009718 C T 0.00009688 upstream CD79B chr17 62075612 62075612 A G . ncRNA_intronic PRR29-AS1 chr17 62113494 62113494 C G . intergenic chr17 62826064 62826064 A C . ncRNA_intronic PLEKHM1P1 chr17 62834157 62834157 C G . upstream PLEKHM1P1 chr17 62855508 62855508 G A 0.0001 intronic LRRC37A3 Chr, chromosome; Start, End, genomic positions based on hg19; Ref, reference allele; Var, variant; GnomAD_G AF, minor allele frequency according to gnomAD v.2.1.1; Component, genomic position.