Suzanne de Bruijn

199 Structural variants cause ectopic enhancer-gene contact in retinitis pigmentosa Table S2. Continued SV Breakpoint Coordinates F primer (5’-3’) R primer (5’-3’) Amplicon size (bp) NL-SV5 T-U 57,260,511 TTCATCATCCACCACCTCCT TCCATGGACTCCCTGAAACT 893 U-U 57,515,862-57,260,511 TTGCACCGCTGTTAAGAAAG GAAGAGGAGACCCCAAAATG 648 U-V 57,515,862 CCGCTGTTAAGAAAGGCTCT CCCACCTCAAGGAGCTTGTA 971 UK-SV6 W-X 57,295,969 TAAGGGATTCCAGGAACTTAAATG AAAATTTGCCAGGGGTGG 767 X-X 57,510,765-57,295,969 TGAGAGAGCTGGAGGCTAGT AAAATTTGCCAGGGGTGG 1295 X-Y 57,510,765 TGAGAGAGCTGGAGGCTAGT AGCAACTGCAACTGAACTCCT 1013 UK-SV7 Z-AA 57,259,525 TCTTCCGTATCTCTGTCCTCAG TGGGAGCTCAAGTGGACAAC 1097 AA-[AC] 57,453,630-57,710,821 GCTGGGACTCAGAGGGTGTT AAGCATCTAGGGCACATCCT 1554 [AC]-[AB] 57,468,931 GGAGCCTGAAGGAGTTGTCAAA AATCCAACACATCTTCAGGGCA 999 [AB]-[AA] 57,453,630 GCTGGGACTCAGAGGGTGTT AACAGTCATGGCTCACACTCA 1200 [AA]-AC 57,259,525-57,468,931 TGGGAGCTCAAGTGGACAAC AATCCAACACATCTTCAGGGCA 1504 AC-AD 57,710,821 AAGCATCTAGGGCACATCCT ACCCTATACTGAGGGACCTGC 990 UK-SV8 AE-AF 57,277,347 GCTGACACTTTCCACCCC CCAATGCAAAACCTGATACAGT 551 AF-[AH] 57,326,234-57,631,659 TGGGGATGTTCTGCTAAGGG TGCCTGTAGTCCAATTTCTCAG 458 [AH]-[AG] 57,413,153 CAGTGGTGTGATCTGCTCA CACCAAGCATTTTCAGCAGC 478 [AG]-[AF] 57,326,234 TGGGGATGTTCTGCTAAGGG TGTGCCCAGCCCTTTTCATT 525 [AF]-AH 57,277,347-57,413,153 CCAATGCAAAACCTGATACAGT CACCAAGCATTTTCAGCAGC 569 AH-AI 57,631,659 TGCCTGTAGTCCAATTTCTCAG GTGTGGGAAGGGTTGCTTAT 433 SV, Structural variant; Breakpoint, Breakpoints between genomic regions as illustrated in Figure 2 ; Coordinates, genomic positions of breakpoints according to hg19; F primer and R primer, primer sequences used for PCR amplification and Sanger sequencing; Amplicon size, size of amplified PCR product in base pairs (bp). [] indicates inverted segments. Allele-specific mutant breakpoint junctions are indicated in bold.