VARIANT NAME EFFECT BETA SE MAF MAFabbr 1:55505598:G:GCGCA 30:A/AHX frameshift -1.074 0.123 7.50E-05 8.0E-05 1:55509588:A:C 94:T/P missense -1.349 0.316 1.70E-05 2.0E-05 1:55509685:T:A 126:M/K missense -1.028 0.195 3.30E-05 3.0E-05 1:55512197:C:A 134:A/D missense -0.87 0.318 1.20E-05 1.0E-05 1:55512267:C:A 157:N/K missense -0.787 0.104 1.00E-04 1.0E-04 1:55512289:C:T 165:R/W missense -0.922 0.364 1.20E-05 1.0E-05 1:55518008:G:A 194:R/Q missense -0.736 0.165 4.40E-05 4.0E-05 1:55518085:G:T c.657+1G>T splice_variant -0.939 0.087 0.00015 2.0E-04 1:55518374:C:T 237:R/W missense -0.447 0.031 1.30E-03 1e-3 1:55518377:G:GA 238:D/EX frameshift -1.787 0.379 1.30E-05 1.0E-05 1:55521738:G:A 291:G/D missense -0.626 0.18 3.60E-05 4.0E-05 1:55523136:A:C 377:T/P missense -0.694 0.166 5.10E-05 5.0E-05 1:55523187:G:A 394:G/S missense -0.487 0.101 1.20E-04 1.0E-04 1:55523709:G:T 394:G/V missense -1.252 0.254 1.70E-05 2.0E-05 1:55523786:GC:G 420:A/X frameshift -0.941 0.22 3.20E-05 3.0E-05 1:55523855:G:A 443:A/T missense -0.249 0.057 0.00034 3.0E-04 1:55524201:T:C 462:S/P missense -0.644 0.06 0.00035 3.0E-04 1:55524303:C:T 496:R/W missense 0.587 0.158 5.30E-05 5.0E-05 1:55524308:C:T c.1503-12C>T spliceAI -0.599 0.15 5.30E-05 5.0E-05 1:55524309:G:A 498:E/K missense -0.739 0.061 0.00035 3.0E-04 1:55524313:G:C 499:R/P missense -0.943 0.092 0.00013 1.0E-04 1:55527230:G:A c.1863+1G>A splice_variant -0.981 0.058 0.00032 3.0E-04