VARIANT NAME EFFECT BETA SE MAF MAFabbr 5:75858226:T:C 51:M/T missense 0.688 0.118 6.20E-05 6E-05 5:75858301:C:A 76:A/E missense 0.441 0.147 4.20E-05 4E-05 5:75866423:C:T 108:R/* stop_gained 0.777 0.035 0.00067 7E-04 5:75871552:G:A 139:R/Q missense 0.226 0.089 0.00012 1E-04 5:75896742:C:T 393:Q/* stop_gained 0.939 0.134 5.50E-05 6E-05 5:75902053:C:T 428:Q/* stop_gained 0.646 0.116 6.60E-05 7E-05 5:75902129:G:A c.1357+1G>A splice_variant 0.634 0.124 7.80E-05 8E-05 5:75927675:A:G c.1613-9A>G spliceAI 0.537 0.099 9.10E-05 9E-05 5:75932944:G:A 622:W/* stop_gained 0.746 0.084 0.00012 1E-04 5:75954282:A:G c.2321-2A>G splice_variant 0.637 0.104 8.40E-05 8E-05 5:75960968:G:C 883:E/Q missense 0.337 0.012 0.0059 6E-03 5:75960989:T:C 890:Y/H missense 0.686 0.07 0.00023 2E-04 5:75967625:C:T 962:P/L missense -0.75 0.17 3.20E-05 3E-05 5:75973081:A:C 1189:E/A missense 0.271 0.044 0.00043 4E-04 5:75979027:G:A 1250:V/M missense 0.372 0.053 0.00034 3E-04 5:75993819:G:A 1405:R/Q missense 0.458 0.165 3.20E-05 3E-05 5:75993939:A:G 1445:Y/C missense 0.6 0.124 5.80E-05 6E-05 5:75998391:G:A 1530:M/I missense 0.109 0.035 0.00083 8E-04 5:76003044:A:G 1545:Y/C missense 0.663 0.098 7.90E-05 8E-05