Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
1-39456976-C-T c.-77C>T 5_prime_UTR_premature_start_codon_gain AKIRIN1 1 34088 2.93358E-5 17044 0 NA
1-39456987-G-T c.-66G>T 5_prime_UTR_premature_start_codon_gain AKIRIN1 1 34124 2.93049E-5 17062 0 NA
1-39456989-C-T c.-64C>T 5_prime_UTR_premature_start_codon_gain AKIRIN1 11 34298 3.20718E-4 17149 0 9.56755E-5
1-39457000-C-G c.-53C>G 5_prime_UTR_premature_start_codon_gain AKIRIN1 2 35062 5.70418E-5 17531 0 NA
1-39457007-C-T c.-46C>T 5_prime_UTR_premature_start_codon_gain AKIRIN1 1 35366 2.82757E-5 17683 0 6.68449E-4
1-39457016-C-T c.-37C>T 5_prime_UTR_premature_start_codon_gain AKIRIN1 9301 33540 0.277311 16770 1170 0.281026
1-39457057-C-G p.Ala2Gly missense AKIRIN1 2 35724 5.59848E-5 17862 0 NA
1-39457058-G-A p.Ala2Ala synonymous AKIRIN1 2 35752 5.59409E-5 17876 0 3.18918E-5
1-39457099-C-T p.Ala16Val missense AKIRIN1 3 36440 8.23271E-5 18220 0 6.38692E-5
1-39457115-C-G p.Gly21Gly synonymous AKIRIN1 2 36622 5.4612E-5 18311 0 NA
1-39457121-G-A p.Pro23Pro synonymous AKIRIN1 1 36560 2.73523E-5 18280 0 5.2356E-5
1-39457125-C-A p.Arg25Arg synonymous AKIRIN1 8 36570 2.18759E-4 18285 0 0.00177305
1-39457128-C-T p.Arg26Trp missense AKIRIN1 1 36498 2.73988E-5 18249 0 NA
1-39457132-G-A p.Arg27His missense AKIRIN1 2 36708 5.4484E-5 18354 0 NA
1-39457139-C-T p.Ala29Ala synonymous AKIRIN1 1 36880 2.7115E-5 18440 0 1.91669E-4
1-39457142-T-G p.Pro30Pro synonymous AKIRIN1 1 37192 2.68875E-5 18596 0 9.58957E-5
1-39457149-G-A p.Gly33Ser missense AKIRIN1 3 37732 7.95081E-5 18866 0 0.00139276
1-39457160-G-C p.Pro36Pro synonymous AKIRIN1 2 38036 5.25818E-5 19018 0 NA
1-39457181-C-T p.Ala43Ala synonymous AKIRIN1 279 38422 0.00726146 19211 6 0.0145479
1-39457186-C-T p.Pro45Leu missense AKIRIN1 1 38528 2.59551E-5 19264 0 NA
1-39457191-C-T p.Pro47Ser missense AKIRIN1 2 38814 5.15278E-5 19407 0 5.66251E-4
1-39457202-G-C p.Gln50His missense AKIRIN1 1 39110 2.55689E-5 19555 0 2.70621E-5
1-39457204-C-T p.Thr51Met missense AKIRIN1 2 39076 5.11823E-5 19538 0 NA
1-39457210-C-A p.Thr53Asn missense AKIRIN1 1 39182 2.55219E-5 19591 0 2.09732E-4
1-39457220-G-A p.Gln56Gln synonymous AKIRIN1 1 38814 2.57639E-5 19407 0 NA
1-39457224-C-G p.Leu58Val missense AKIRIN1 3 38612 7.76961E-5 19306 0 3.83362E-4
1-39457235-C-T p.Pro61Pro synonymous AKIRIN1 1 36734 2.72227E-5 18367 0 NA
1-39457237-C-T p.Ala62Val missense AKIRIN1 1 36724 2.72301E-5 18362 0 NA
1-39457238-C-G p.Ala62Ala synonymous AKIRIN1 1 36694 2.72524E-5 18347 0 3.19428E-5
1-39457240-C-T p.Pro63Leu missense AKIRIN1 1 36576 2.73403E-5 18288 0 NA
1-39457272-G-GAGCAAATTTTTCAGAACATAAAACAAGAATATAGTCGTTATCAGAGGTGGAGACATTTA c.220_220+1insAGCAAATTTTTCAGAACATAAAACAAGAATATAGTCGTTATCAGAGGTGGAGACATTTA splice_donor AKIRIN1 1 35028 2.85486E-5 17514 0 NA
1-39457272-G-GAGCAAATTTTTCAGAACATAAAACAAGAATATAGTCGTTATCAGA c.220_220+1insAGCAAATTTTTCAGAACATAAAACAAGAATATAGTCGTTATCAGA splice_donor AKIRIN1 1 35024 2.85519E-5 17512 0 NA
1-39457272-G-A p.Gly74Ser missense+splice_region AKIRIN1 2 35028 5.70972E-5 17514 0 NA
1-39457276-ACCTGC-A c.220+5_220+9delCCTGC splice_region AKIRIN1 5 34784 1.43744E-4 17392 0 6.55824E-5
1-39457277-C-G c.220+5C>G splice_region AKIRIN1 1 34772 2.87588E-5 17386 0 6.44205E-5
1-39457278-C-G c.220+6C>G splice_region AKIRIN1 4 34768 1.15048E-4 17384 0 NA
1-39457280-G-T c.220+8G>T splice_region AKIRIN1 1 34546 2.89469E-5 17273 0 NA
1-39463836-T-C c.221-7T>C splice_region AKIRIN1 1 82826 1.20735E-5 41413 0 NA
1-39463848-A-AT p.Gln78fs frameshift AKIRIN1 1 83120 1.20308E-5 41560 0 NA
1-39463876-G-T p.Ser85Ile missense AKIRIN1 1 83264 1.201E-5 41632 0 NA
1-39463884-C-G p.Gln88Glu missense AKIRIN1 4 83280 4.80307E-5 41640 0 1.59246E-4
1-39463889-G-A p.Arg89Arg synonymous AKIRIN1 3 83284 3.60213E-5 41642 0 1.19438E-5
1-39463904-AGTT-A p.Val96del conservative_inframe_deletion AKIRIN1 2 83284 2.40142E-5 41642 0 NA
1-39463905-G-A p.Val95Ile missense AKIRIN1 1 83286 1.20068E-5 41643 0 NA
1-39463916-T-A p.Asn98Lys missense AKIRIN1 2 83300 2.40096E-5 41650 0 NA
1-39463922-T-C p.Ser100Ser synonymous AKIRIN1 1 83304 1.20042E-5 41652 0 3.18471E-5
1-39463936-C-T p.Ser105Leu missense AKIRIN1 3 83270 3.60274E-5 41635 0 1.64897E-5
1-39463937-G-A p.Ser105Ser synonymous AKIRIN1 3 83272 3.60265E-5 41636 0 1.23669E-4
1-39463945-A-G p.Gln108Arg missense AKIRIN1 3 83274 3.60256E-5 41637 0 3.97988E-6
1-39463946-A-G p.Gln108Gln synonymous AKIRIN1 4 83272 4.80354E-5 41636 0 5.03525E-4
1-39463950-C-T p.His110Tyr missense AKIRIN1 2 83270 2.40183E-5 41635 0 1.27356E-4
1-39463952-C-T p.His110His synonymous AKIRIN1 2 83272 2.40177E-5 41636 0 8.24416E-6
1-39463964-C-T p.Leu114Leu synonymous AKIRIN1 2 83262 2.40206E-5 41631 0 NA
1-39463967-A-G p.Thr115Thr synonymous AKIRIN1 1 83254 1.20114E-5 41627 0 4.02713E-6
1-39463968-G-A p.Ala116Thr missense AKIRIN1 2 83246 2.40252E-5 41623 0 1.64989E-5
1-39466645-T-G p.Gly74Gly splice_region+synonymous AKIRIN1 23 82996 2.77122E-4 41498 0 1.21405E-4
1-39466652-T-C p.Trp77Arg missense AKIRIN1 1 83074 1.20375E-5 41537 0 5.03525E-4
1-39466653-GG-TT p.Trp77Phe missense AKIRIN1 3 83090 3.61054E-5 41545 0 NA
1-39466654-G-T p.Trp77Cys missense AKIRIN1 1 83090 1.20351E-5 41545 0 3.18735E-5
1-39466665-A-C p.Asp81Ala missense AKIRIN1 1 83168 1.20239E-5 41584 0 3.99821E-6
1-39466677-T-G p.Phe85Cys missense AKIRIN1 1 83230 1.20149E-5 41615 0 8.28885E-6
1-39466709-C-T p.Arg96Cys missense AKIRIN1 1 83280 1.20077E-5 41640 0 3.18552E-5
1-39466723-CTA-C p.Tyr101fs frameshift AKIRIN1 1 83298 1.20051E-5 41649 0 NA
1-39466726-T-C p.Tyr101Tyr synonymous AKIRIN1 242 83296 0.0029053 41648 0 0.00230689
1-39466728-A-G p.Glu102Gly missense AKIRIN1 2 83288 2.40131E-5 41644 0 NA
1-39466729-A-G p.Glu102Glu synonymous AKIRIN1 1 83284 1.20071E-5 41642 0 NA
1-39466734-A-T p.Lys104Ile missense AKIRIN1 77 83276 9.24636E-4 41638 0 0.00248408
1-39466742-G-A p.Glu107Lys missense AKIRIN1 1 83268 1.20094E-5 41634 0 7.96476E-6
1-39466759-C-G p.Ile112Met missense AKIRIN1 1 83220 1.20163E-5 41610 0 4.00372E-6
1-39466776-C-G p.Ala118Gly missense+splice_region AKIRIN1 3 83150 3.60794E-5 41575 0 1.22069E-5
1-39466784-C-T c.355+6C>T splice_region AKIRIN1 1 83088 1.20354E-5 41544 0 NA
1-39466786-C-G c.355+8C>G splice_region AKIRIN1 28032 82076 0.341537 41038 4956 0.342766
1-39466786-CAG-GAC c.355+8_355+10delCAGinsGAC splice_region AKIRIN1 3 83066 3.61159E-5 41533 0 NA
1-39469014-C-T c.356-5C>T splice_region AKIRIN1 1 82508 1.212E-5 41254 0 1.64948E-5
1-39469032-T-G p.Ser123Ser synonymous AKIRIN1 1 82686 1.20939E-5 41343 0 4.12392E-5
1-39469035-T-C p.Phe124Phe synonymous AKIRIN1 2 82702 2.41832E-5 41351 0 1.64954E-5
1-39469064-G-A p.Arg134Gln missense AKIRIN1 3 82618 3.63117E-5 41309 0 8.26105E-6
1-39469066-C-T p.Arg135Trp missense AKIRIN1 1 82592 1.21077E-5 41296 0 6.25E-4
1-39469067-G-A p.Arg135Gln missense AKIRIN1 2 82580 2.42189E-5 41290 0 2.39233E-5
1-39469068-G-T p.Arg135Arg synonymous AKIRIN1 2 82598 2.42137E-5 41299 0 3.18471E-5
1-39469077-A-G p.Thr138Thr synonymous AKIRIN1 1 82528 1.21171E-5 41264 0 NA
1-39469086-A-G p.Thr141Thr synonymous AKIRIN1 1 82424 1.21324E-5 41212 0 6.36821E-5
1-39469705-CTTAA-C c.428-11_428-8delTTAA splice_region AKIRIN1 1 80978 1.2349E-5 40489 0 NA
1-39469713-A-G c.428-4A>G splice_region AKIRIN1 2 81122 2.46542E-5 40561 0 NA
1-39469714-C-T c.428-3C>T splice_region AKIRIN1 4 81098 4.9323E-5 40549 0 3.18492E-5