Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
1-222842918-CACA-C c.*314_*316delTGT splice_region AIDA 4 4486 8.91663E-4 2243 0 0.00547676
1-222843240-C-T p.Glu306Lys missense AIDA 2 80466 2.48552E-5 40233 0 3.99026E-6
1-222843243-T-C p.Lys305Glu missense AIDA 1 80640 1.24008E-5 40320 0 NA
1-222843275-G-A p.Pro294Leu missense AIDA 2 82280 2.43072E-5 41140 0 3.18959E-5
1-222843288-A-G p.Leu290Leu synonymous AIDA 1 82574 1.21103E-5 41287 0 NA
1-222843292-T-C p.Gln288Gln synonymous AIDA 1 82620 1.21036E-5 41310 0 3.18613E-5
1-222843297-A-G p.Leu287Leu synonymous AIDA 1 82650 1.20992E-5 41325 0 1.19383E-5
1-222843325-C-T p.Lys277Lys synonymous AIDA 12 82816 1.449E-4 41408 1 0.00100806
1-222843331-T-C p.Leu275Leu splice_region+synonymous AIDA 2 82858 2.41377E-5 41429 0 1.19368E-5
1-222843337-A-G c.825-6T>C splice_region AIDA 1 82892 1.20639E-5 41446 0 NA
1-222843485-C-T p.Val272Ile missense AIDA 2 83108 2.40651E-5 41554 0 1.91022E-4
1-222843515-C-G p.Glu262Gln missense AIDA 1 83092 1.20349E-5 41546 0 NA
1-222843531-C-T p.Lys256Lys synonymous AIDA 1 83134 1.20288E-5 41567 0 3.1839E-5
1-222843539-T-A p.Ser254Cys missense AIDA 1 83106 1.20328E-5 41553 0 NA
1-222843539-T-C p.Ser254Gly missense AIDA 2 83106 2.40657E-5 41553 0 NA
1-222843547-C-CT p.Arg251fs frameshift AIDA 1 83088 1.20354E-5 41544 0 NA
1-222843555-A-T p.Pro248Pro synonymous AIDA 2 83066 2.40772E-5 41533 0 2.52661E-5
1-222843558-C-G p.Lys247Asn missense AIDA 1 83052 1.20406E-5 41526 0 NA
1-222843563-A-G p.Tyr246His missense AIDA 1 83056 1.20401E-5 41528 0 NA
1-222843576-AAAG-A p.Phe241del disruptive_inframe_deletion AIDA 2 83012 2.40929E-5 41506 0 NA
1-222843586-G-C p.Ala238Gly missense AIDA 1 82996 1.20488E-5 41498 0 3.1839E-5
1-222846668-T-C p.Glu231Glu synonymous AIDA 2 81788 2.44535E-5 40894 0 5.09684E-4
1-222846674-A-G p.His229His synonymous AIDA 1 81952 1.22023E-5 40976 0 NA
1-222846683-G-A p.Leu226Leu synonymous AIDA 488 82110 0.00594325 41055 10 0.0142702
1-222846691-T-G p.Ile224Leu missense AIDA 1 82288 1.21524E-5 41144 0 NA
1-222846693-T-C p.Asp223Gly missense AIDA 1 82294 1.21516E-5 41147 0 8.31836E-6
1-222846710-A-G p.Tyr217Tyr synonymous AIDA 3 82530 3.63504E-5 41265 0 8.33417E-6
1-222846712-A-G p.Tyr217His missense AIDA 3 82556 3.6339E-5 41278 0 1.41761E-4
1-222846732-G-A p.Ala210Val missense AIDA 1 82620 1.21036E-5 41310 0 8.39137E-6
1-222846761-G-A p.Asp200Asp synonymous AIDA 1 82486 1.21233E-5 41243 0 NA
1-222846770-A-G p.Asn197Asn synonymous AIDA 1 82124 1.21767E-5 41062 0 4.30986E-6
1-222849431-C-G c.583+7G>C splice_region AIDA 2 81024 2.4684E-5 40512 0 8.32168E-6
1-222849446-C-G p.Ser192Thr missense AIDA 8 81802 9.77971E-5 40901 0 7.45416E-5
1-222849456-T-G p.Ile189Leu missense AIDA 1 82510 1.21197E-5 41255 0 NA
1-222849471-A-G p.Cys184Arg missense AIDA 1 82814 1.20753E-5 41407 0 4.02146E-6
1-222849500-T-G p.Glu174Ala missense AIDA 1 82896 1.20633E-5 41448 0 NA
1-222849507-T-C p.Arg172Gly missense AIDA 2 82872 2.41336E-5 41436 0 NA
1-222849526-T-C p.Gly165Gly synonymous AIDA 1 82728 1.20878E-5 41364 0 NA
1-222849527-C-A p.Gly165Val missense AIDA 1 82728 1.20878E-5 41364 0 NA
1-222849528-C-A p.Gly165* stop_gained AIDA 1 82720 1.2089E-5 41360 0 NA
1-222849536-G-A p.Ser162Leu missense AIDA 1 82664 1.20972E-5 41332 0 5.04032E-4
1-222849538-T-C p.Pro161Pro synonymous AIDA 2 82666 2.41937E-5 41333 0 3.18431E-5
1-222849545-C-G p.Arg159Thr missense AIDA 1 82656 1.20983E-5 41328 0 1.22832E-5
1-222849560-C-G p.Gly154Ala missense+splice_region AIDA 1 82552 1.21136E-5 41276 0 8.38097E-6
1-222849561-C-T c.461-1G>A splice_acceptor AIDA 1 82558 1.21127E-5 41279 0 4.15942E-6
1-222849566-A-C c.461-6T>G splice_region AIDA 2 82514 2.42383E-5 41257 0 NA
1-222849567-A-G c.461-7T>C splice_region AIDA 2 82506 2.42407E-5 41253 0 NA
1-222860279-T-G p.Arg151Ser missense AIDA 2 82106 2.43588E-5 41053 0 9.04846E-6
1-222860283-G-A p.Ala150Val missense AIDA 1 82202 1.21652E-5 41101 0 2.68817E-5
1-222860289-A-C p.Phe148Cys missense AIDA 1 82308 1.21495E-5 41154 0 1.68308E-4
1-222860299-G-A p.Pro145Ser missense AIDA 4 82494 4.84884E-5 41247 0 0.00100806
1-222860308-C-T p.Ala142Thr missense AIDA 1 82632 1.21018E-5 41316 0 1.202E-5
1-222860311-C-T p.Gly141Arg missense AIDA 1 82668 1.20966E-5 41334 0 8.74294E-6
1-222860314-C-T p.Ala140Thr missense AIDA 1 82702 1.20916E-5 41351 0 NA
1-222860327-T-C p.Glu135Glu synonymous AIDA 10 82840 1.20715E-4 41420 0 5.03525E-4
1-222860382-C-T c.354-4G>A splice_region AIDA 1 83066 1.20386E-5 41533 0 NA
1-222860942-T-C p.Pro116Pro synonymous AIDA 1 76646 1.3047E-5 38323 0 3.18695E-5
1-222860944-G-T p.Pro116Thr missense AIDA 1 76610 1.30531E-5 38305 0 NA
1-222860949-G-A p.Pro114Leu missense AIDA 1 76766 1.30266E-5 38383 0 NA
1-222867131-T-G p.Ile97Leu missense+splice_region AIDA 2 81964 2.4401E-5 40982 0 NA
1-222867132-T-A p.Pro96Pro splice_region+synonymous AIDA 1 81978 1.21984E-5 40989 0 8.27417E-6
1-222867134-G-A p.Pro96Ser missense AIDA 1 82084 1.21826E-5 41042 0 8.27267E-6
1-222867153-C-T p.Glu89Glu synonymous AIDA 1 82382 1.21386E-5 41191 0 NA
1-222867173-G-C p.Gln83Glu missense AIDA 6 82436 7.27837E-5 41218 0 8.26993E-6
1-222867183-G-A p.Ser79Ser splice_region+synonymous AIDA 1 82332 1.21459E-5 41166 0 8.27335E-6
1-222867189-A-C c.235-4T>G splice_region AIDA 1 82312 1.21489E-5 41156 0 NA
1-222867547-C-A c.234+5G>T splice_region AIDA 4 82340 4.85791E-5 41170 0 3.18573E-5
1-222867559-G-A p.Ala76Val missense AIDA 1 82640 1.21007E-5 41320 0 NA
1-222867584-T-A p.Thr68Ser missense AIDA 2 82840 2.41429E-5 41420 0 4.00096E-6
1-222867594-G-A p.Gly64Gly synonymous AIDA 1 82806 1.20764E-5 41403 0 NA
1-222867600-G-C p.Thr62Thr synonymous AIDA 1 82800 1.20773E-5 41400 0 NA
1-222867601-G-A p.Thr62Ile missense AIDA 1 82780 1.20802E-5 41390 0 NA
1-222876484-T-C c.180+6A>G splice_region AIDA 1 81652 1.22471E-5 40826 0 NA
1-222876512-G-C p.Ser53Cys missense AIDA 1 82428 1.21318E-5 41214 0 NA
1-222876518-T-C p.Asn51Ser missense AIDA 1 82482 1.21239E-5 41241 0 3.18532E-5
1-222876527-G-C p.Ala48Gly missense AIDA 1 82484 1.21236E-5 41242 0 8.42247E-6
1-222876528-C-G p.Ala48Pro missense AIDA 3 82500 3.63636E-5 41250 0 6.74161E-5
1-222876538-C-A p.Lys44Asn missense AIDA 1 82494 1.21221E-5 41247 0 NA
1-222876541-T-A p.Gln43His missense AIDA 1 82494 1.21221E-5 41247 0 NA
1-222885547-C-G c.110+3G>C splice_region AIDA 1 79226 1.26221E-5 39613 0 NA
1-222885552-C-A p.Gln36His missense+splice_region AIDA 1 79248 1.26186E-5 39624 0 NA
1-222885567-C-T p.Ala31Ala synonymous AIDA 1 79232 1.26212E-5 39616 0 3.18634E-5
1-222885567-C-A p.Ala31Ala synonymous AIDA 1 79232 1.26212E-5 39616 0 NA
1-222885607-C-G p.Arg18Thr missense AIDA 2 78366 2.55213E-5 39183 0 2.45833E-5
1-222885621-G-T p.Gly13Gly synonymous AIDA 1 77012 1.2985E-5 38506 0 NA
1-222885626-A-C p.Trp12Gly missense AIDA 1 76836 1.30147E-5 38418 0 5.20291E-6
1-222885645-G-A p.Thr5Thr synonymous AIDA 1 74812 1.33668E-5 37406 0 NA
1-222885712-T-C c.-53A>G 5_prime_UTR_premature_start_codon_gain AIDA 4 69412 5.76269E-5 34706 0 3.23981E-4
1-222885827-A-G c.-168T>C 5_prime_UTR_premature_start_codon_gain AIDA 1 40590 2.46366E-5 20295 0 NA
1-222886106-C-T p.Ala6Ala synonymous AIDA 1 36794 2.71783E-5 18397 0 NA
1-222886111-C-T p.Glu5Lys missense AIDA 2 36796 5.43537E-5 18398 0 NA
1-222886119-A-G p.Ile2Thr missense AIDA 29028 36394 0.797604 18197 11679 0.825817
1-222886119-A-T p.Ile2Lys missense AIDA 2 36802 5.43449E-5 18401 0 NA
1-222886131-G-A c.-8C>T 5_prime_UTR_premature_start_codon_gain AIDA 3 36794 8.1535E-5 18397 0 NA
1-222886146-G-A c.-23C>T 5_prime_UTR_premature_start_codon_gain AIDA 1 36790 2.71813E-5 18395 0 7.6726E-6
1-222886169-C-A c.-46G>T 5_prime_UTR_premature_start_codon_gain AIDA 466 36764 0.0126754 18382 9 0.02125
1-222886170-G-A c.-47C>T 5_prime_UTR_premature_start_codon_gain AIDA 2 36772 5.43892E-5 18386 0 1.59256E-4
1-222886174-C-G c.-51G>C 5_prime_UTR_premature_start_codon_gain AIDA 1 36770 2.71961E-5 18385 0 NA
1-222886347-A-G c.-224T>C 5_prime_UTR_premature_start_codon_gain AIDA 7 34678 2.01857E-4 17339 0 6.68918E-4
1-222886360-C-A c.-237G>T 5_prime_UTR_premature_start_codon_gain AIDA 1 34272 2.91783E-5 17136 0 NA
1-222886364-C-G n.182+7G>C splice_region AIDA 1 34048 2.93703E-5 17024 0 3.18492E-5
1-222886464-A-C c.-341T>G 5_prime_UTR_premature_start_codon_gain AIDA 1 27984 3.57347E-5 13992 0 NA
1-222886486-G-C c.-363C>G 5_prime_UTR_premature_start_codon_gain AIDA 46 27582 0.00166775 13791 0 9.23802E-4