Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
10-5032197-A-G p.Asp321Asp synonymous AKR1C2 1 81938 1.22043E-5 40969 0 3.20965E-5
10-5032200-A-T p.Ser320Ser synonymous AKR1C2 2 81916 2.44153E-5 40958 0 NA
10-5032206-T-C p.Pro318Pro synonymous AKR1C2 1 81890 1.22115E-5 40945 0 8.80731E-6
10-5032215-A-AG p.Asn316fs frameshift AKR1C2 2 81806 2.44481E-5 40903 0 3.28818E-5
10-5032216-G-A p.Pro315Leu missense AKR1C2 2 81804 2.44487E-5 40902 0 NA
10-5032219-G-T p.Pro314His missense AKR1C2 1 81762 1.22306E-5 40881 0 NA
10-5032221-G-A p.Gly313Gly synonymous AKR1C2 2 81716 2.4475E-5 40858 0 4.37009E-5
10-5032222-C-G p.Gly313Ala missense AKR1C2 1 81746 1.2233E-5 40873 0 3.49907E-5
10-5032229-A-G p.Phe311Leu missense+splice_region AKR1C2 1 81900 1.221E-5 40950 0 4.37936E-6
10-5034014-ATTAC-A c.929+5_929+8delGTAA splice_region AKR1C2 380 38674 0.00982572 19337 9 0.0130261
10-5034016-T-C c.929+7A>G splice_region AKR1C2 5305 35444 0.149673 17722 112 0.333061
10-5034021-A-G c.929+2T>C splice_donor AKR1C2 2 39148 5.10882E-5 19574 0 4.46628E-5
10-5034041-C-T p.Arg304Gln missense AKR1C2 31 39270 7.89407E-4 19635 0 0.00162338
10-5034042-G-A p.Arg304* stop_gained AKR1C2 3 39420 7.61035E-5 19710 0 7.02247E-5
10-5034060-C-T p.Gly298Ser missense AKR1C2 1 39320 2.54323E-5 19660 0 NA
10-5034063-C-T p.Asp297Asn missense AKR1C2 1 39124 2.55598E-5 19562 0 1.70201E-5
10-5034082-T-C p.Ser290Ser synonymous AKR1C2 1 37788 2.64634E-5 18894 0 1.74544E-5
10-5037520-C-G p.Gln279His missense AKR1C2 5 38924 1.28455E-4 19462 0 0.00325098
10-5037559-C-G p.Val266Val synonymous AKR1C2 2 51406 3.8906E-5 25703 0 NA
10-5037574-C-T p.Leu261Leu synonymous AKR1C2 6 53294 1.12583E-4 26647 0 0.014094
10-5037593-A-C p.Ile255Ser missense AKR1C2 3 56206 5.33751E-5 28103 0 3.36293E-5
10-5037611-T-G p.Lys249Thr missense AKR1C2 1 58112 1.72081E-5 29056 0 NA
10-5037659-G-A p.Pro233Leu missense AKR1C2 1 66784 1.49736E-5 33392 0 0.0025641
10-5037682-A-AGGAAAGGC c.681-14_681-7dupGCCTTTCC splice_region AKR1C2 1 67518 1.48109E-5 33759 0 7.66339E-4
10-5037949-A-G p.Trp227Arg missense+splice_region AKR1C2 1 80462 1.24282E-5 40231 0 NA
10-5037952-GTTC-G p.Glu225del conservative_inframe_deletion AKR1C2 1 80626 1.24029E-5 40313 0 NA
10-5037960-C-T p.Arg223Gln missense AKR1C2 1 81054 1.23375E-5 40527 0 5.30223E-4
10-5037961-G-C p.Arg223Gly missense AKR1C2 1 81158 1.23216E-5 40579 0 NA
10-5037962-A-G p.His222His synonymous AKR1C2 10 80378 1.24412E-4 40189 0 0.0185753
10-5037964-G-A p.His222Tyr missense AKR1C2 1 81254 1.23071E-5 40627 0 NA
10-5038006-A-G p.Ser208Pro missense AKR1C2 1 80126 1.24803E-5 40063 0 NA
10-5038011-C-A p.Cys206Phe missense AKR1C2 3 79734 3.76251E-5 39867 0 3.21543E-4
10-5038017-T-TC p.Asp204fs frameshift AKR1C2 1 79384 1.2597E-5 39692 0 1.17716E-4
10-5040810-C-T c.570+7G>A splice_region AKR1C2 16 83342 1.9198E-4 41671 0 4.46303E-4
10-5040811-G-A c.570+6C>T splice_region AKR1C2 4 83366 4.79812E-5 41683 0 2.31019E-4
10-5040818-T-G p.Gln190Pro missense+splice_region AKR1C2 3 83376 3.59816E-5 41688 0 8.24974E-6
10-5040831-G-C p.Pro186Ala missense AKR1C2 4 83392 4.79662E-5 41696 0 2.58523E-4
10-5040833-T-C p.Lys185Arg missense AKR1C2 1 83388 1.19921E-5 41694 0 2.47223E-5
10-5040847-T-G p.Pro180Pro synonymous AKR1C2 6 83386 7.19545E-5 41693 0 6.36943E-5
10-5040848-G-A p.Pro180Leu missense AKR1C2 24 83390 2.87804E-4 41695 0 6.25E-4
10-5040852-T-C p.Lys179Glu missense AKR1C2 1 83396 1.1991E-5 41698 0 NA
10-5040853-G-A p.Asn178Asn synonymous AKR1C2 2 83398 2.39814E-5 41699 0 8.23859E-6
10-5040854-T-C p.Asn178Ser missense AKR1C2 2 83398 2.39814E-5 41699 0 2.47141E-5
10-5040865-C-T p.Glu174Glu synonymous AKR1C2 1 83402 1.19901E-5 41701 0 8.23791E-6
10-5040867-C-A p.Glu174* stop_gained AKR1C2 1 83406 1.19895E-5 41703 0 NA
10-5040871-C-T p.Leu172Leu synonymous AKR1C2 1 83416 1.19881E-5 41708 0 NA
10-5040872-A-T p.Leu172Gln missense AKR1C2 6 83392 7.19493E-5 41696 0 3.50296E-4
10-5040873-G-A p.Leu172Leu synonymous AKR1C2 1 83422 1.19872E-5 41711 0 8.23778E-6
10-5040874-C-T p.Arg171Arg synonymous AKR1C2 1 83420 1.19875E-5 41710 0 NA
10-5040874-C-G p.Arg171Ser missense AKR1C2 1 83420 1.19875E-5 41710 0 1.64756E-5
10-5040878-T-C p.His170Arg missense AKR1C2 3 83390 3.59755E-5 41695 0 2.54761E-4
10-5040880-G-A p.Asn169Asn synonymous AKR1C2 1 83418 1.19878E-5 41709 0 NA
10-5040886-G-A p.Asn167Asn synonymous AKR1C2 18 83422 2.1577E-4 41711 0 6.25E-4
10-5040886-G-C p.Asn167Lys missense AKR1C2 1 83424 1.1987E-5 41712 0 NA
10-5040892-C-A p.Val165Val synonymous AKR1C2 1 83416 1.19881E-5 41708 0 7.95298E-6
10-5040894-C-T p.Val165Met missense AKR1C2 5 83422 5.99362E-5 41711 0 9.94123E-5
10-5040897-C-T p.Gly164Arg missense AKR1C2 10 83416 1.19881E-4 41708 0 5.04032E-4
10-5040898-G-C p.Ile163Met missense AKR1C2 1 83418 1.19878E-5 41709 0 NA
10-5040898-G-A p.Ile163Ile synonymous AKR1C2 10 83418 1.19878E-4 41709 0 8.23859E-5
10-5040900-T-C p.Ile163Val missense AKR1C2 1 83418 1.19878E-5 41709 0 1.1534E-4
10-5040908-GCCAATCCTGCAT-G p.Asp156_Leu159del disruptive_inframe_deletion AKR1C2 1 83420 1.19875E-5 41710 0 8.23859E-6
10-5040912-A-G p.Leu159Leu synonymous AKR1C2 1 83424 1.1987E-5 41712 0 6.37024E-5
10-5040934-C-T p.Met151Ile missense AKR1C2 1 83418 1.19878E-5 41709 0 NA
10-5040935-A-G p.Met151Thr missense AKR1C2 1 83418 1.19878E-5 41709 0 7.959E-6
10-5040936-T-C p.Met151Val missense AKR1C2 2 83408 2.39785E-5 41704 0 0.00100806
10-5040939-C-T p.Ala150Thr missense+splice_region AKR1C2 1 83408 1.19893E-5 41704 0 3.9814E-6
10-5040941-T-C c.448-2A>G splice_acceptor AKR1C2 2 83410 2.39779E-5 41705 0 3.20431E-5
10-5041384-A-C c.447+8T>G splice_region AKR1C2 1 75144 1.33078E-5 37572 0 1.68062E-5
10-5041388-TCAC-T c.447+1_447+3delGTG splice_donor AKR1C2 1 75536 1.32387E-5 37768 0 NA
10-5041398-T-C p.Thr147Thr synonymous AKR1C2 7324 61884 0.11835 30942 570 0.344044
10-5041421-C-G p.Asp140His missense AKR1C2 3 78344 3.82927E-5 39172 0 4.28839E-6
10-5041426-A-T p.Leu138Gln missense AKR1C2 1 78740 1.27E-5 39370 0 6.26566E-4
10-5041432-T-C p.Lys136Arg missense AKR1C2 6 78978 7.59705E-5 39489 0 3.45241E-5
10-5041451-G-T p.Pro130Thr missense AKR1C2 1 79132 1.26371E-5 39566 0 NA
10-5041455-C-G p.Val128Val synonymous AKR1C2 1 79040 1.26518E-5 39520 0 3.19061E-5
10-5041465-C-A p.Gly125Val missense AKR1C2 1 78620 1.27194E-5 39310 0 NA
10-5041468-G-A p.Pro124Leu missense+splice_region AKR1C2 1 78450 1.2747E-5 39225 0 9.97277E-6
10-5042607-A-G p.Ser139Pro missense AKR1C2 5 82824 6.0369E-5 41412 0 1.02886E-5
10-5042609-T-A p.Asn138Ile missense AKR1C2 1 82858 1.20688E-5 41429 0 NA
10-5042617-A-T p.Pro135Pro synonymous AKR1C2 1 82942 1.20566E-5 41471 0 NA
10-5042631-A-G p.Trp131Arg missense AKR1C2 1 83062 1.20392E-5 41531 0 1.99984E-5
10-5042637-A-T p.Leu129Ile missense AKR1C2 1 83092 1.20349E-5 41546 0 NA
10-5042647-G-A p.Asp125Asp synonymous AKR1C2 29 83140 3.48809E-4 41570 0 2.30229E-4
10-5042648-T-C p.Asp125Gly missense AKR1C2 11 83152 1.32288E-4 41576 0 2.81286E-5
10-5042740-A-G c.369+2T>C splice_donor AKR1C2 1 83288 1.20065E-5 41644 0 NA
10-5042742-CT-C p.Lys123fs frameshift AKR1C2 3 83290 3.60187E-5 41645 0 6.36725E-5
10-5042747-C-T p.Val122Ile missense AKR1C2 54 83292 6.48322E-4 41646 0 0.00143321
10-5042751-C-A p.Val120Val synonymous AKR1C2 1 83300 1.20048E-5 41650 0 NA
10-5042751-C-T p.Val120Val synonymous AKR1C2 1 83300 1.20048E-5 41650 0 NA
10-5042756-G-T p.Pro119Thr missense AKR1C2 1 83296 1.20054E-5 41648 0 3.29815E-5
10-5042768-GA-G p.Ile116fs frameshift AKR1C2 3 83302 3.60135E-5 41651 0 NA
10-5042769-A-G p.Tyr114Tyr synonymous AKR1C2 40 83276 4.8033E-4 41638 0 0.00143312
10-5042777-C-T p.Asp112Asn missense AKR1C2 2 83274 2.40171E-5 41637 0 1.64878E-5
10-5042782-T-C p.Tyr110Cys missense AKR1C2 3 83258 3.60326E-5 41629 0 8.2428E-5
10-5042784-G-A p.Asp109Asp synonymous AKR1C2 5298 78204 0.0677459 39102 323 0.110101
10-5042786-C-G p.Asp109His missense AKR1C2 1 83234 1.20143E-5 41617 0 NA
10-5042789-A-G p.Leu108Leu synonymous AKR1C2 286 83208 0.00343717 41604 3 0.00505051
10-5042807-AC-A p.Arg101fs frameshift AKR1C2 1 83182 1.20218E-5 41591 0 NA
10-5042817-G-A p.Ala98Ala synonymous AKR1C2 1 83140 1.20279E-5 41570 0 NA
10-5042819-C-T p.Ala98Thr missense AKR1C2 4 83130 4.81174E-5 41565 0 6.36699E-5
10-5042821-G-A p.Pro97Leu missense AKR1C2 2 83116 2.40628E-5 41558 0 1.64878E-5
10-5042824-C-G p.Arg96Pro missense AKR1C2 1 83098 1.2034E-5 41549 0 NA
10-5042825-G-A p.Arg96* stop_gained AKR1C2 1 83074 1.20375E-5 41537 0 3.18537E-5
10-5042832-C-T p.Glu93Glu synonymous AKR1C2 2 83042 2.40842E-5 41521 0 1.59286E-5
10-5042839-C-A p.Arg91Leu missense AKR1C2 1 82986 1.20502E-5 41493 0 3.98444E-6
10-5042839-C-T p.Arg91Gln missense AKR1C2 7 82986 8.43516E-5 41493 0 1.91071E-4
10-5042840-G-A p.Arg91* stop_gained AKR1C2 1 82952 1.20552E-5 41476 0 3.99288E-6
10-5042840-G-T p.Arg91Arg synonymous AKR1C2 1 82952 1.20552E-5 41476 0 2.47447E-5
10-5042842-T-C p.His90Arg missense AKR1C2 1 82938 1.20572E-5 41469 0 8.24933E-6
10-5042852-T-A p.Ser87Cys missense AKR1C2 1 82814 1.20753E-5 41407 0 0.001606
10-5042861-G-T c.253-3C>A splice_region AKR1C2 5 82704 6.04566E-5 41352 0 4.96393E-5
10-5043725-T-G p.Asp78Ala missense AKR1C2 4 83336 4.79985E-5 41668 0 1.65082E-5
10-5043726-C-T p.Asp78Asn missense AKR1C2 1 83340 1.1999E-5 41670 0 NA
10-5043743-C-T p.Gly72Asp missense AKR1C2 1 83396 1.1991E-5 41698 0 NA
10-5043747-C-G p.Asp71His missense AKR1C2 289 83382 0.00346598 41691 1 0.0125881
10-5043749-G-A p.Ala70Val missense AKR1C2 145 83398 0.00173865 41699 0 0.00356642
10-5043751-A-G p.Ile69Ile synonymous AKR1C2 1 83398 1.19907E-5 41699 0 6.25E-4
10-5043752-A-G p.Ile69Thr missense AKR1C2 5 83398 5.99535E-5 41699 0 4.37585E-5
10-5043754-C-T p.Lys68Lys synonymous AKR1C2 1 83402 1.19901E-5 41701 0 1.64788E-5
10-5043756-T-C p.Lys68Glu missense AKR1C2 1 83402 1.19901E-5 41701 0 NA
10-5043761-C-T p.Arg66Gln missense AKR1C2 1 83402 1.19901E-5 41701 0 3.18512E-5
10-5043762-G-A p.Arg66* stop_gained AKR1C2 2 83408 2.39785E-5 41704 0 3.18431E-5
10-5043772-T-A p.Gly62Gly synonymous AKR1C2 1 83406 1.19895E-5 41703 0 NA
10-5043775-A-C p.Val61Val synonymous AKR1C2 1 83414 1.19884E-5 41707 0 3.97735E-6
10-5043777-C-T p.Val61Ile missense AKR1C2 8 83416 9.59049E-5 41708 0 1.59175E-4
10-5043778-C-G p.Gln60His missense AKR1C2 20 83414 2.39768E-4 41707 0 1.81234E-4
10-5043778-C-T p.Gln60Gln synonymous AKR1C2 6 83416 7.19286E-5 41708 0 6.3678E-5
10-5043779-T-G p.Gln60Pro missense AKR1C2 1 83412 1.19887E-5 41706 0 3.97731E-6
10-5043798-CAT-C p.His53fs frameshift AKR1C2 61 83418 7.31257E-4 41709 0 5.03525E-4
10-5043812-A-G p.Ile49Thr missense AKR1C2 1 83408 1.19893E-5 41704 0 NA
10-5043814-A-G p.His48His synonymous AKR1C2 1 83406 1.19895E-5 41703 0 3.97722E-6
10-5043816-G-A p.His48Tyr missense AKR1C2 2 83408 2.39785E-5 41704 1 3.9775E-6
10-5043817-G-C p.His47Gln missense AKR1C2 1 83404 1.19898E-5 41702 0 NA
10-5043820-G-A p.Phe46Phe synonymous AKR1C2 11 83406 1.31885E-4 41703 0 0.00125
10-5043821-A-T p.Phe46Tyr missense AKR1C2 4262 83326 0.0511485 41663 183 0.0715005
10-5043825-C-T p.Gly45Arg missense AKR1C2 1 83402 1.19901E-5 41701 0 1.98904E-5
10-5043826-G-A p.Ala44Ala synonymous AKR1C2 6 83404 7.1939E-5 41702 0 6.36983E-5
10-5043833-A-G p.Ile42Thr missense AKR1C2 1 83400 1.19904E-5 41700 0 3.97791E-6
10-5043837-C-T p.Ala41Thr missense AKR1C2 1 83396 1.1991E-5 41698 0 3.1839E-5
10-5043841-T-C p.Lys39Lys synonymous AKR1C2 1 83388 1.19921E-5 41694 0 5.17125E-5
10-5043842-T-G p.Lys39Thr missense AKR1C2 1 83390 1.19918E-5 41695 0 NA
10-5043842-T-A p.Lys39Ile missense AKR1C2 1 83388 1.19921E-5 41694 0 7.95596E-6
10-5043844-G-A p.Val38Val synonymous AKR1C2 2 83384 2.39854E-5 41692 0 NA
10-5043845-AC-GT p.Val38Thr missense AKR1C2 1 83384 1.19927E-5 41692 0 NA
10-5043846-C-T p.Val38Ile missense AKR1C2 14 83386 1.67894E-4 41693 0 0.00125
10-5043847-G-A p.Ala37Ala synonymous AKR1C2 5 83388 5.99607E-5 41694 0 5.57001E-5
10-5043848-G-A p.Ala37Val missense AKR1C2 3 83386 3.59773E-5 41693 0 3.18329E-5
10-5043850-C-T p.Glu36Glu synonymous AKR1C2 2 83384 2.39854E-5 41692 0 9.8868E-5
10-5043855-G-A p.Leu35Leu synonymous AKR1C2 4 83386 4.79697E-5 41693 0 6.25E-4
10-5043857-G-C p.Ala34Gly missense AKR1C2 1 83382 1.1993E-5 41691 0 NA
10-5043857-G-A p.Ala34Val missense AKR1C2 1 83382 1.1993E-5 41691 0 8.23968E-6
10-5043857-G-T p.Ala34Asp missense AKR1C2 3 83382 3.5979E-5 41691 0 9.88761E-5
10-5043858-C-T p.Ala34Thr missense AKR1C2 1 83378 1.19936E-5 41689 0 NA
10-5043861-T-G p.Lys33Gln missense AKR1C2 1 83374 1.19941E-5 41687 0 NA
10-5043863-C-G p.Ser32Thr missense AKR1C2 1 83368 1.1995E-5 41684 0 NA
10-5043869-G-A p.Pro30Leu missense AKR1C2 1 83364 1.19956E-5 41682 0 1.64861E-5
10-5043873-C-T p.Val29Ile missense+splice_region AKR1C2 1 83360 1.19962E-5 41680 0 NA
10-5043881-A-G c.85-8T>C splice_region AKR1C2 1 83338 1.19993E-5 41669 0 NA
10-5045953-C-T p.Ala25Ala synonymous AKR1C2 137 82440 0.00166181 41220 0 0.00290438
10-5045954-G-T p.Ala25Glu missense AKR1C2 1 82538 1.21156E-5 41269 0 NA
10-5045954-G-A p.Ala25Val missense AKR1C2 1 82538 1.21156E-5 41269 0 5.03525E-4
10-5045954-G-C p.Ala25Gly missense AKR1C2 1 82536 1.21159E-5 41268 0 3.19224E-5
10-5045960-G-A p.Thr23Ile missense AKR1C2 24 82774 2.89946E-4 41387 0 5.73943E-4
10-5045969-C-T p.Gly20Glu missense AKR1C2 1 82988 1.20499E-5 41494 0 NA
10-5045974-G-A p.Val18Val synonymous AKR1C2 1 83062 1.20392E-5 41531 0 6.25E-4
10-5045985-A-C p.Phe15Val missense AKR1C2 1 83182 1.20218E-5 41591 0 NA
10-5045993-T-A p.Asp12Val missense AKR1C2 1 83234 1.20143E-5 41617 0 2.47215E-5
10-5046010-C-G p.Gln6His missense AKR1C2 2 83282 2.40148E-5 41641 0 NA
10-5046013-G-A p.Tyr5Tyr synonymous AKR1C2 16 83274 1.92137E-4 41637 0 6.11326E-4
10-5046019-C-T p.Ser3Ser synonymous AKR1C2 19 83284 2.28135E-4 41642 0 1.43221E-4
10-5046020-G-A p.Ser3Leu missense AKR1C2 5 83288 6.00327E-5 41644 0 5.17199E-5
10-5046023-T-A p.Asp2Val missense AKR1C2 5 83300 6.0024E-5 41650 0 3.1839E-5
10-5046051-A-C c.-24T>G 5_prime_UTR_premature_start_codon_gain AKR1C2 2 83296 2.40108E-5 41648 0 NA
10-5046070-C-A c.-43G>T 5_prime_UTR_premature_start_codon_gain AKR1C2 4 83196 4.80792E-5 41598 0 6.25E-4
10-5046111-C-G c.-84G>C 5_prime_UTR_premature_start_codon_gain AKR1C2 20 82028 2.43819E-4 41014 0 0.00125
10-5046113-G-C c.-86C>G splice_region AKR1C2 1 81792 1.22261E-5 40896 0 NA
10-5046195-A-G c.-168T>C 5_prime_UTR_premature_start_codon_gain AKR1C2 2 61446 3.25489E-5 30723 0 NA
10-5046198-G-A c.-171C>T 5_prime_UTR_premature_start_codon_gain AKR1C2 6 59568 1.00725E-4 29784 0 3.53766E-4
10-5049594-C-G c.-180+5G>C splice_region AKR1C2 1 4 0.25 2 0 0.246166
10-5049595-G-T c.-180+4C>A splice_region AKR1C2 3 4 0.75 2 1 0.472122