Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
6-31583008-G-A p.Arg2Lys missense AIF1 1 80902 1.23606E-5 40451 0 2.2239E-5
6-31583012-G-C p.Lys3Asn missense AIF1 1 81212 1.23135E-5 40606 0 4.30519E-6
6-31583013-G-C p.Ala4Pro missense AIF1 1 81304 1.22995E-5 40652 0 3.49338E-4
6-31583013-G-T p.Ala4Ser missense AIF1 1 81304 1.22995E-5 40652 0 1.35854E-4
6-31583024-G-T p.Lys7Asn missense AIF1 2 81942 2.44075E-5 40971 0 4.10031E-6
6-31583035-GAGA-G p.Glu12del disruptive_inframe_deletion AIF1 30 82244 3.64768E-4 41122 0 2.05642E-4
6-31583054-C-G p.Asp17Glu missense AIF1 1 82584 1.21089E-5 41292 0 NA
6-31583061-C-T p.Leu20Phe missense AIF1 1 82652 1.20989E-5 41326 0 NA
6-31583089-A-G c.-18A>G 5_prime_UTR_premature_start_codon_gain AIF1 1 82820 1.20744E-5 41410 0 3.97791E-6
6-31583111-G-A p.Ser2Asn missense AIF1 2 82692 2.41861E-5 41346 0 9.56328E-5
6-31583122-G-T p.Asp6Tyr missense AIF1 1 82660 1.20978E-5 41330 0 NA
6-31583128-C-G p.Gln8Glu missense AIF1 1 82604 1.2106E-5 41302 0 NA
6-31583293-C-G c.68-5C>G splice_region AIF1 1 83174 1.2023E-5 41587 0 NA
6-31583298-G-A p.Gly23Glu missense+splice_region AIF1 1 83200 1.20192E-5 41600 0 NA
6-31583300-G-C p.Gly24Arg missense+splice_region AIF1 1 83200 1.20192E-5 41600 0 3.97969E-6
6-31583308-T-G p.Ala26Ala synonymous AIF1 6 83222 7.20963E-5 41611 0 4.77509E-5
6-31583312-G-A p.Gly28Arg missense AIF1 4902 83064 0.0590147 41532 292 0.117647
6-31583313-G-A p.Gly28Glu missense AIF1 7 83206 8.41286E-5 41603 0 5.44662E-4
6-31583325-C-T p.Ala32Val missense AIF1 1 83184 1.20215E-5 41592 0 NA
6-31583344-G-A p.Leu38Leu synonymous AIF1 1 83184 1.20215E-5 41592 0 NA
6-31583357-AAGGTAGAAGGAAGAACTAAGGGGGCAGAGCCAGGGGGATGGGGCGTGGATGGGGAGGGCCTACCCTGGCTCTTATTTTCCCCTCCAT-A p.Lys43fs frameshift AIF1 7 83076 8.42602E-5 41538 0 NA
6-31583363-G-A c.129+4G>A splice_region AIF1 28 83042 3.37179E-4 41521 0 8.94226E-4
6-31583446-G-T c.130-1G>T splice_acceptor AIF1 1 74400 1.34409E-5 37200 0 NA
6-31583450-T-G p.Phe45Val missense AIF1 1 73418 1.36206E-5 36709 0 NA
6-31583453-C-T p.Leu46Leu synonymous AIF1 1 72512 1.37908E-5 36256 0 1.87157E-5
6-31583459-G-A p.Asp48Asn missense AIF1 4 70202 5.69784E-5 35101 0 2.83618E-5
6-31583463-C-T p.Pro49Leu missense AIF1 6 69176 8.67353E-5 34588 0 3.29267E-5
6-31583469-A-G p.Tyr51Cys missense AIF1 1 68078 1.4689E-5 34039 0 NA
6-31583471-A-G p.Ser52Gly missense AIF1 1 67444 1.48271E-5 33722 0 9.84465E-6
6-31583479-T-A p.Asp54Glu missense AIF1 7 64786 1.08048E-4 32393 0 3.51348E-4
6-31583486-C-G p.Leu57Val missense AIF1 2 62730 3.18827E-5 31365 0 3.75372E-5
6-31583491-C-A p.Pro58Pro synonymous AIF1 1 61106 1.6365E-5 30553 0 NA
6-31583495-A-G p.Lys60Glu missense AIF1 10 60284 1.65881E-4 30142 0 3.28153E-4
6-31583516-G-A c.196+3G>A splice_region AIF1 1 54840 1.82349E-5 27420 0 NA
6-31583519-G-A c.196+6G>A splice_region AIF1 1 54626 1.83063E-5 27313 0 3.18695E-5
6-31583777-C-T c.-112C>T 5_prime_UTR_premature_start_codon_gain AIF1 1 64666 1.54641E-5 32333 0 6.3857E-4
6-31583886-T-C p.Tyr68His missense AIF1 1 81224 1.23116E-5 40612 0 8.75534E-6
6-31583891-G-A p.Met1? start_lost AIF1 3 81250 3.69231E-5 40625 0 NA
6-31583915-C-T p.Gly77Gly synonymous AIF1 24 81314 2.95152E-4 40657 1 0.00163399
6-31583915-C-A p.Gly77Gly synonymous AIF1 2 81314 2.4596E-5 40657 1 NA
6-31583916-G-A p.Asp78Asn missense AIF1 1 81320 1.22971E-5 40660 0 2.71424E-5
6-31584119-A-G c.239-2A>G splice_acceptor AIF1 23 81244 2.83098E-4 40622 0 0.00125
6-31584121-A-G p.Asp80Gly missense+splice_region AIF1 1 81250 1.23077E-5 40625 0 NA
6-31584124-T-C p.Ile81Thr missense AIF1 8 81268 9.84397E-5 40634 0 1.91461E-4
6-31584138-C-T p.Arg86* stop_gained AIF1 4 81308 4.91957E-5 40654 0 4.05633E-6
6-31584139-G-A p.Arg86Gln missense AIF1 1 81316 1.22977E-5 40658 0 6.37389E-5
6-31584146-G-A p.Leu88Leu synonymous AIF1 3 81326 3.68886E-5 40663 0 1.01414E-4
6-31584180-C-A p.Leu100Ile missense AIF1 84 81394 0.00103202 40697 1 0.00544662
6-31584192-A-C p.Ile104Leu missense AIF1 3 81406 3.68523E-5 40703 0 3.24981E-4
6-31584195-G-T p.Gly105* stop_gained AIF1 3 81412 3.68496E-5 40706 0 NA
6-31584200-G-A p.Glu106Glu synonymous AIF1 1 81420 1.2282E-5 40710 0 NA
6-31584213-T-C p.Ser111Pro missense AIF1 3 81426 3.68433E-5 40713 0 3.18573E-5
6-31584216-G-A p.Gly112Arg missense AIF1 1 81432 1.22802E-5 40716 0 1.73166E-5
6-31584224-G-A p.Thr114Thr synonymous AIF1 2 81442 2.45574E-5 40721 0 3.18593E-5
6-31584225-T-C p.Phe115Leu missense AIF1 1 81444 1.22784E-5 40722 0 1.22304E-5
6-31584233-C-T p.Tyr117Tyr synonymous AIF1 1 81446 1.22781E-5 40723 0 NA
6-31584234-C-G p.Pro118Ala missense AIF1 8 81444 9.8227E-5 40722 0 1.59357E-4
6-31584259-G-A p.Gly126Asp missense AIF1 1 81460 1.2276E-5 40730 0 8.82472E-6
6-31584267-T-A p.Ser129Thr missense AIF1 2 81466 2.45501E-5 40733 0 4.13914E-6
6-31584273-A-T p.Ile131Phe missense AIF1 2 81462 2.45513E-5 40731 0 1.24808E-5
6-31584283-TGTGA-T c.401+1_401+4delGTGA splice_donor AIF1 2 81460 2.45519E-5 40730 0 9.02674E-6
6-31584284-G-A c.401+1G>A splice_donor AIF1 1 81458 1.22763E-5 40729 0 4.22044E-6
6-31584285-T-C c.401+2T>C splice_donor AIF1 1 81458 1.22763E-5 40729 0 3.18634E-5
6-31584601-T-C p.Met137Thr missense AIF1 5 82670 6.04814E-5 41335 0 9.57854E-5
6-31584607-A-T p.Glu139Val missense AIF1 2 82696 2.4185E-5 41348 0 3.18431E-5
6-31584616-C-T p.Ala142Val missense AIF1 2 82750 2.41692E-5 41375 0 0.00125313
6-31584619-G-A p.Arg143Lys missense AIF1 1 82798 1.20776E-5 41399 0 3.18613E-5
6-31584635-A-C p.Pro148Pro synonymous AIF1 11 82966 1.32584E-4 41483 0 1.47138E-4
6-31584641-C-T p.Gly150Gly synonymous AIF1 3 83014 3.61385E-5 41507 0 5.45256E-4
6-31584645-C-T p.Pro152Ser missense AIF1 1 83044 1.20418E-5 41522 0 3.97684E-6
6-31584672-C-T p.Pro161Ser missense AIF1 1 83196 1.20198E-5 41598 0 NA
6-31584673-C-T p.Pro161Leu missense AIF1 1 83202 1.20189E-5 41601 0 NA