Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
9-130630169-G-A c.*118C>T splice_region AK1 7 80592 8.68573E-5 40296 0 NA
9-130630282-C-T c.*5G>A splice_region AK1 8 80740 9.90835E-5 40370 0 3.9984E-5
9-130630290-C-A p.Lys210Asn missense AK1 1 80838 1.23704E-5 40419 0 3.99917E-6
9-130630293-T-C p.Leu209Leu synonymous AK1 4 80856 4.94707E-5 40428 0 2.47741E-5
9-130630297-G-T p.Ala208Asp missense AK1 1 80840 1.23701E-5 40420 0 NA
9-130630298-C-T p.Ala208Thr missense AK1 3 80814 3.71223E-5 40407 0 6.606E-5
9-130630317-C-G p.Gln201His missense AK1 1 80964 1.23512E-5 40482 0 NA
9-130630337-C-G p.Val195Leu missense AK1 5 81036 6.1701E-5 40518 0 8.26487E-6
9-130630337-C-T p.Val195Met missense AK1 1 81036 1.23402E-5 40518 0 1.65297E-5
9-130630338-G-A p.Ser194Ser synonymous AK1 1 81068 1.23353E-5 40534 0 8.26774E-6
9-130630339-G-A p.Ser194Phe missense AK1 1 81108 1.23292E-5 40554 0 8.26733E-6
9-130630342-C-T p.Gly193Asp missense AK1 30 81088 3.69968E-4 40544 0 2.56351E-4
9-130630344-C-T p.Glu192Glu synonymous AK1 2 81226 2.46227E-5 40613 0 NA
9-130630346-C-T p.Glu192Lys missense AK1 2 81232 2.46208E-5 40616 0 NA
9-130630360-G-T c.565-5C>A splice_region AK1 4 81436 4.91183E-5 40718 0 3.18796E-5
9-130630605-G-A p.Arg187Cys missense AK1 10 81986 1.21972E-4 40993 0 3.15856E-4
9-130630610-A-G p.Ile185Thr missense AK1 1 82066 1.21853E-5 41033 0 1.31158E-4
9-130630615-A-G p.Arg183Arg synonymous AK1 8 82098 9.74445E-5 41049 0 1.27518E-4
9-130630618-T-C p.Lys182Lys synonymous AK1 2 82110 2.43576E-5 41055 0 4.47147E-5
9-130630632-C-T p.Ala178Thr missense AK1 279 82212 0.00339367 41106 4 0.0105903
9-130630633-G-A p.Ile177Ile synonymous AK1 6 82246 7.29519E-5 41123 0 1.91217E-4
9-130630635-T-C p.Ile177Val missense AK1 2 82246 2.43173E-5 41123 0 4.13993E-6
9-130630638-C-T p.Val176Ile missense AK1 1 82260 1.21566E-5 41130 0 4.12191E-6
9-130630639-A-G p.Pro175Pro synonymous AK1 81890 81964 0.999097 40982 40911 1.0
9-130630648-G-T p.Ala172Ala synonymous AK1 1 82370 1.21403E-5 41185 0 NA
9-130630656-A-G p.Tyr170His missense AK1 3 82410 3.64033E-5 41205 0 NA
9-130630660-G-T p.Thr168Thr synonymous AK1 2 82422 2.42654E-5 41211 0 9.56511E-5
9-130630660-G-A p.Thr168Thr synonymous AK1 3 82422 3.63981E-5 41211 0 NA
9-130630666-C-T p.Leu166Leu synonymous AK1 3 82474 3.63751E-5 41237 0 1.21353E-5
9-130630676-T-A p.Lys163Ile missense AK1 1 82556 1.2113E-5 41278 0 NA
9-130630690-A-G p.Asn158Asn synonymous AK1 1 82488 1.2123E-5 41244 0 NA
9-130630695-C-T p.Asp157Asn missense AK1 1 82460 1.21271E-5 41230 0 1.04121E-5
9-130630696-G-A p.Asp156Asp synonymous AK1 2 82444 2.42589E-5 41222 0 3.19101E-5
9-130630703-C-T p.Arg154His missense AK1 1 82416 1.21336E-5 41208 0 1.0791E-5
9-130630707-C-T p.Gly153Arg missense AK1 2 82428 2.42636E-5 41214 0 6.58357E-5
9-130630718-C-G p.Gly149Ala missense AK1 1 82390 1.21374E-5 41195 0 NA
9-130630721-C-T p.Arg148His missense AK1 1 82366 1.21409E-5 41183 0 4.10566E-6
9-130630727-A-G p.Leu146Ser missense AK1 3 82304 3.64502E-5 41152 0 3.19142E-5
9-130630737-G-C p.Gln143Glu missense AK1 3 82250 3.64742E-5 41125 0 4.18957E-6
9-130630738-G-A p.Thr142Thr synonymous AK1 1 82236 1.21601E-5 41118 0 NA
9-130630749-C-G p.Glu139Gln missense AK1 2862 82146 0.0348404 41073 69 0.0590439
9-130630753-G-A p.Ala48Val missense+splice_region AK1 1 82158 1.21717E-5 41079 0 8.75297E-6
9-130630758-C-T p.Ala136Thr missense AK1 7 82114 8.52473E-5 41057 0 4.47704E-6
9-130630759-G-A c.142-5C>T splice_region AK1 1 82120 1.21773E-5 41060 0 4.47207E-6
9-130630771-C-T p.Leu131Leu synonymous AK1 1 82054 1.21871E-5 41027 0 NA
9-130630799-C-T c.373-8G>A splice_region AK1 2 81688 2.44834E-5 40844 0 3.19305E-5
9-130634103-C-T p.Arg124Gln missense+splice_region AK1 1 83216 1.20169E-5 41608 0 8.24375E-6
9-130634104-G-A p.Arg124Trp missense+splice_region AK1 5 83212 6.00875E-5 41606 0 3.18695E-5
9-130634106-C-A p.Arg123Leu missense AK1 1 83216 1.20169E-5 41608 0 8.2428E-6
9-130634107-G-A p.Arg123* stop_gained AK1 1 83214 1.20172E-5 41607 0 NA
9-130634108-C-T p.Glu122Glu synonymous AK1 10 83216 1.20169E-4 41608 0 0.0025
9-130634114-C-T p.Glu120Glu synonymous AK1 1 83234 1.20143E-5 41617 0 NA
9-130634127-T-G p.Gln116Pro missense AK1 1 83246 1.20126E-5 41623 0 NA
9-130634131-C-T p.Val115Met missense AK1 2 83244 2.40258E-5 41622 0 1.98853E-5
9-130634137-G-A p.Arg113Trp missense AK1 1 83262 1.20103E-5 41631 0 2.4726E-5
9-130634138-C-T p.Pro112Pro synonymous AK1 8 83274 9.60684E-5 41637 0 1.98851E-5
9-130634139-G-A p.Pro112Leu missense AK1 1 83280 1.20077E-5 41640 0 8.24239E-6
9-130634160-C-A p.Gly105Val missense AK1 1 83282 1.20074E-5 41641 0 NA
9-130634169-G-T p.Thr102Asn missense AK1 3 83276 3.60248E-5 41638 0 1.19317E-5
9-130634173-T-C p.Asn101Asp missense AK1 1 83268 1.20094E-5 41634 0 8.24416E-6
9-130634174-G-A p.Val100Val synonymous AK1 1 83272 1.20088E-5 41636 0 NA
9-130634176-C-T p.Val100Ile missense AK1 1 83278 1.2008E-5 41639 0 NA
9-130634178-T-C p.Lys99Arg missense AK1 31 83272 3.72274E-4 41636 1 5.41539E-4
9-130634180-G-C p.Ala98Ala synonymous AK1 40 83266 4.80388E-4 41633 0 0.00172051
9-130634185-CC-GA p.MetVal96IleLeu missense AK1 1 83254 1.20114E-5 41627 0 NA
9-130634188-T-C p.Met96Val missense AK1 7 83250 8.40841E-5 41625 0 9.54692E-5
9-130634196-C-T p.Arg93Gln missense AK1 5 83226 6.00774E-5 41613 0 6.37227E-5
9-130634202-A-G p.Met91Thr missense AK1 2 83218 2.40333E-5 41609 0 NA
9-130634207-C-A p.Leu89Phe missense AK1 1 83194 1.20201E-5 41597 0 8.25328E-6
9-130634209-A-G p.Leu89Leu synonymous AK1 1 83184 1.20215E-5 41592 0 NA
9-130634215-T-C p.Thr87Ala missense AK1 1 83162 1.20247E-5 41581 0 NA
9-130634218-C-T p.Glu86Lys missense+splice_region AK1 1 83150 1.20265E-5 41575 0 8.25777E-6
9-130634219-C-T c.256-1G>A splice_acceptor AK1 2 83148 2.40535E-5 41574 0 NA
9-130634221-G-A c.256-3C>T splice_region AK1 4 83122 4.8122E-5 41561 0 8.25982E-6
9-130634962-C-G c.255+7G>C splice_region AK1 4 82694 4.83711E-5 41347 0 3.18613E-5
9-130634963-A-C c.255+6T>G splice_region AK1 5 82708 6.04536E-5 41354 0 6.60535E-5
9-130634969-C-T p.Leu85Leu splice_region+synonymous AK1 1 82808 1.20761E-5 41404 0 NA
9-130634972-T-C p.Pro84Pro synonymous AK1 3 82810 3.62275E-5 41405 0 8.25505E-6
9-130634973-G-A p.Pro84Leu missense AK1 1 82818 1.20747E-5 41409 0 NA
9-130634990-C-T p.Glu78Glu synonymous AK1 611 82962 0.00736482 41481 17 0.0153581
9-130634997-A-G p.Ile76Thr missense AK1 1 82988 1.20499E-5 41494 0 NA
9-130635002-C-T p.Ser74Ser synonymous AK1 3 83004 3.61428E-5 41502 0 6.37186E-5
9-130635003-G-A p.Ser74Leu missense AK1 25 83000 3.01205E-4 41500 0 0.00195625
9-130635007-G-C p.Leu73Val missense AK1 1 83018 1.20456E-5 41509 0 NA
9-130635018-C-T p.Arg69Lys missense AK1 2 83018 2.40912E-5 41509 0 3.30164E-5
9-130635023-C-T p.Ser67Ser synonymous AK1 98 83000 0.00118072 41500 1 0.00264702
9-130635023-CG-TA p.Ser67Leu missense AK1 3 83002 3.61437E-5 41501 0 NA
9-130635023-C-G p.Ser67Ser synonymous AK1 1 83002 1.20479E-5 41501 0 NA
9-130635024-G-A p.Ser67Leu missense AK1 1 82998 1.20485E-5 41499 0 3.58058E-5
9-130635027-CC-TT p.Gly66Asn missense AK1 9 83034 1.08389E-4 41517 0 NA
9-130635027-C-T p.Gly66Asp missense AK1 3 83034 3.61298E-5 41517 0 1.11386E-4
9-130635028-C-T p.Gly66Ser missense AK1 2 83032 2.40871E-5 41516 0 1.1139E-4
9-130635040-C-T p.Glu62Lys missense AK1 2 83026 2.40888E-5 41513 0 5.03525E-4
9-130635041-G-A p.Ser61Ser synonymous AK1 24 83018 2.89094E-4 41509 0 0.00251762
9-130635059-G-C p.Thr55Thr synonymous AK1 11 83028 1.32485E-4 41514 0 1.11469E-4
9-130635074-G-A p.Tyr50Tyr synonymous AK1 242 82972 0.00291665 41486 2 0.0078115
9-130635084-T-A p.Lys47Met missense AK1 1 83024 1.20447E-5 41512 0 NA
9-130635086-C-A p.Gln46His missense AK1 3 83016 3.61376E-5 41508 0 7.96045E-6
9-130635091-C-T p.Val45Met missense AK1 5 82996 6.02439E-5 41498 0 9.5645E-5
9-130635092-G-A p.Ile44Ile synonymous AK1 1 82990 1.20496E-5 41495 0 6.37633E-5
9-130635092-G-C p.Ile44Met missense AK1 1 82990 1.20496E-5 41495 0 NA
9-130635094-T-C p.Ile44Val missense AK1 1 83000 1.20482E-5 41500 0 8.28569E-6
9-130635098-C-G p.Glu42Asp missense AK1 16 83000 1.92771E-4 41500 0 3.18735E-4
9-130635107-G-T p.Thr39Thr synonymous AK1 7 82948 8.43902E-5 41474 1 8.29669E-6
9-130635121-A-C p.Ser35Ala missense AK1 5 82888 6.03224E-5 41444 0 7.56858E-5
9-130635127-GCCCACCT-G p.Gly31fs frameshift AK1 1 82792 1.20785E-5 41396 0 NA
9-130635133-C-CCACCACAAAGA c.92-2_92-1insTCTTTGTGGTG splice_acceptor AK1 4 82784 4.83185E-5 41392 2 NA
9-130635135-GCA-G c.92-5_92-4delTG splice_region AK1 1 82740 1.20861E-5 41370 0 NA
9-130635325-G-A p.Thr24Ile missense AK1 3 82542 3.63451E-5 41271 0 NA
9-130635334-A-G p.Leu21Pro missense AK1 1 82454 1.2128E-5 41227 0 3.50963E-5
9-130635344-C-T c.56-4G>A splice_region AK1 3 82188 3.65017E-5 41094 0 7.48937E-5
9-130635344-C-A c.56-4G>T splice_region AK1 1 82188 1.21672E-5 41094 0 6.37552E-5
9-130635345-G-A c.56-5C>T splice_region AK1 1 82180 1.21684E-5 41090 0 5.66979E-5
9-130635377-C-T p.Ala30Ala synonymous AK1 4 81270 4.92187E-5 40635 0 7.37246E-5
9-130635378-G-A p.Ala30Val missense AK1 3 81152 3.69677E-5 40576 0 6.0183E-5
9-130635380-T-C p.Pro29Pro synonymous AK1 1 81110 1.23289E-5 40555 0 8.71224E-6
9-130635386-C-T p.Val27Val synonymous AK1 1 80914 1.23588E-5 40457 0 3.18674E-5
9-130635388-C-T p.Val27Met missense AK1 1 80840 1.23701E-5 40420 0 3.18674E-5
9-130635395-AGG-A p.Pro24fs frameshift AK1 1 80512 1.24205E-5 40256 0 4.71698E-6
9-130635404-T-A p.Pro21Pro synonymous AK1 1 80076 1.24881E-5 40038 0 NA
9-130635409-T-C p.Thr20Ala missense AK1 2 79750 2.50784E-5 39875 0 NA
9-130635413-A-G p.Pro18Pro synonymous AK1 2 79630 2.51162E-5 39815 0 NA
9-130635426-G-A p.Ala14Val missense AK1 22 78624 2.79813E-4 39312 0 1.05154E-4
9-130635433-G-A p.Pro12Ser missense AK1 2 78186 2.558E-5 39093 0 3.18735E-5
9-130635435-G-A p.Pro11Leu missense AK1 1 77990 1.28222E-5 38995 0 1.17417E-4
9-130635449-C-T p.Ala6Ala synonymous AK1 2 77168 2.59175E-5 38584 0 9.92064E-5
9-130635450-G-A p.Ala6Val missense AK1 1 76984 1.29897E-5 38492 0 3.18857E-5
9-130635455-C-T p.Ala4Ala synonymous AK1 2 76578 2.61172E-5 38289 0 0.00125628
9-130635456-G-A p.Ala4Val missense AK1 1 76522 1.30681E-5 38261 0 6.28141E-4
9-130635666-C-T c.55+7G>A splice_region AK1 1 76826 1.30164E-5 38413 0 0.001875
9-130635668-G-A c.55+5C>T splice_region AK1 17 76824 2.21285E-4 38412 0 7.01307E-4
9-130635688-C-A p.Asp14Tyr missense AK1 1 76786 1.30232E-5 38393 0 3.2281E-5
9-130635689-G-A p.Asp13Asp synonymous AK1 6 76798 7.8127E-5 38399 0 1.91266E-4
9-130635698-G-A p.Arg10Arg synonymous AK1 1 76792 1.30222E-5 38396 0 1.60161E-5
9-130635699-C-T p.Arg10His missense AK1 2 76774 2.60505E-5 38387 0 9.96082E-5
9-130635700-G-A p.Arg10Cys missense AK1 8 76774 1.04202E-4 38387 0 3.7806E-5
9-130635709-T-A p.Ser7Cys missense AK1 1 76716 1.30351E-5 38358 0 5.74528E-6
9-130635710-C-T p.Ser6Ser synonymous AK1 1 76706 1.30368E-5 38353 0 3.49699E-5
9-130635711-G-A p.Ser6Leu missense AK1 2 76718 2.60695E-5 38359 0 1.04174E-4
9-130635716-G-A p.Cys4Cys synonymous AK1 617 76714 0.00804286 38357 7 0.00873301
9-130635742-G-A c.-15C>T 5_prime_UTR_premature_start_codon_gain AK1 233 76702 0.00303773 38351 0 0.00749431
9-130635786-G-A c.-59C>T 5_prime_UTR_premature_start_codon_gain AK1 3 76522 3.92044E-5 38261 0 6.37633E-5
9-130635795-C-A c.-68G>T 5_prime_UTR_premature_start_codon_gain AK1 2 76484 2.61493E-5 38242 0 NA
9-130635807-G-A c.-80C>T 5_prime_UTR_premature_start_codon_gain AK1 44 76400 5.75916E-4 38200 0 1.59388E-4
9-130636918-G-A c.-22C>T 5_prime_UTR_premature_start_codon_gain AK1 3 81816 3.66676E-5 40908 0 1.59396E-5
9-130636931-G-A c.-32-3C>T splice_region AK1 2 81256 2.46136E-5 40628 0 8.26364E-5