Suzanne de Bruijn

201 Structural variants cause ectopic enhancer-gene contact in retinitis pigmentosa Table S4. Shared heterozygous variants (MAF ≤0.0001, 3 affected individuals) located within the Dutch RP17-locus (NL1) Chr Start End Ref Var gnom AD_G AF Component Gene name chr17 55225642 55225642 G C . intergenic chr17 55518925 55518925 C T . intronic MSI2 chr17 55625150 55625150 C T . intronic MSI2 chr17 55645018 55645018 G A . intronic MSI2 chr17 55774511 55774511 A T . intergenic chr17 55774518 55774518 C T . intergenic chr17 55815842 55815842 C A . intergenic chr17 55875136 55875136 C A . ncRNA_intronic chr17 56372707 56372707 T A . intergenic chr17 56726598 56726598 G C . intronic TEX14 chr17 56769489 56769489 G C 0.00008155 upstream TEX14 chr17 56811950 56811950 T . UTR3 RAD51C chr17 56878006 56878006 C T . intronic PPM1E chr17 56970337 56970337 G T . intronic PPM1E chr17 56970342 56970342 A T 0.00006367 intronic PPM1E chr17 56970349 56970349 A C . intronic PPM1E chr17 56970362 56970362 G A . intronic PPM1E chr17 57232150 57232150 C G . intronic SKA2 chr17 57315768 57315774 TTATTTT . intronic GDPD1 chr17 57333198 57333198 TG . intronic GDPD1 chr17 57403137 57403137 T . intergenic chr17 57482817 57482817 A T . upstream AC091059.1 chr17 57510654 57510654 A T . ncRNA_intronic chr17 57717126 57717126 C T . intronic CLTC chr17 57788781 57788783 ACT . intronic VMP1 chr17 57788784 57788784 C T . intronic VMP1 chr17 57812263 57812263 TT . intronic VMP1 chr17 57827828 57827828 C 0.00003192 intronic VMP1 chr17 58092315 58092315 T C . ncRNA_intronic chr17 58093706 58093706 A C . ncRNA_intronic chr17 58203846 58203846 G A . upstream AC025048.5 chr17 58691382 58691382 T C . intronic PPM1D chr17 59551786 59551796 CTACCAGCATT . intronic TBX4 chr17 59646261 59646261 G T . intergenic chr17 59652939 59652939 A T . intergenic