Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
10-5090995-G-A c.-156G>A 5_prime_UTR_premature_start_codon_gain AKR1C3 1 71716 1.39439E-5 35858 0 1.19915E-5
10-5091001-G-A c.-150G>A 5_prime_UTR_premature_start_codon_gain AKR1C3 1 72368 1.38183E-5 36184 0 NA
10-5091025-T-C c.-126T>C 5_prime_UTR_premature_start_codon_gain AKR1C3 21 74158 2.83179E-4 37079 0 3.96452E-4
10-5091047-T-G c.-104T>G 5_prime_UTR_premature_start_codon_gain AKR1C3 5 74760 6.68807E-5 37380 0 6.3678E-5
10-5091053-C-T c.-98C>T 5_prime_UTR_premature_start_codon_gain AKR1C3 3 74808 4.01027E-5 37404 0 8.25055E-6
10-5091086-A-C c.-65A>C splice_region AKR1C3 2 74156 2.69702E-5 37078 0 NA
10-5091087-G-A c.-64G>A splice_region AKR1C3 3 74102 4.04847E-5 37051 0 8.26119E-6
10-5091088-GTAA-G c.-64+2_-64+4delTAA splice_donor AKR1C3 2 73986 2.70321E-5 36993 0 2.4784E-5
10-5091091-A-G c.-64+4A>G splice_region AKR1C3 1 73726 1.35637E-5 36863 0 4.95802E-5
10-5119874-T-C c.-281T>C 5_prime_UTR_premature_start_codon_gain AKR1C3 2 24400 8.19672E-5 12200 0 NA
10-5120029-A-G c.-414A>G 5_prime_UTR_premature_start_codon_gain AKR1C3 8 22036 3.63042E-4 11018 0 3.1839E-5
10-5120064-C-T n.263C>T splice_region AKR1C3 51 19184 0.00265847 9592 0 0.00271029
10-5120091-G-C c.-63-1G>C splice_acceptor AKR1C3 1 18164 5.5054E-5 9082 0 3.18756E-5
10-5120102-T-G c.-341T>G 5_prime_UTR_premature_start_codon_gain AKR1C3 1 17144 5.83294E-5 8572 0 NA
10-5120157-G-T p.Met1? start_lost AKR1C3 8536 10332 0.826171 5166 3541 0.889375
10-5120175-A-C c.-274+6A>C splice_region AKR1C3 8 11968 6.68449E-4 5984 0 0.00159195
10-5136050-C-T c.-587C>T 5_prime_UTR_premature_start_codon_gain AKR1C3 1 130 0.00769231 65 0 0.00829135
10-5136148-A-G c.-489A>G 5_prime_UTR_premature_start_codon_gain AKR1C3 75 146 0.513699 73 20 0.438866
10-5136203-C-T c.-434C>T 5_prime_UTR_premature_start_codon_gain AKR1C3 32 164 0.195122 82 4 0.314131
10-5136293-T-G c.-344T>G 5_prime_UTR_premature_start_codon_gain AKR1C3 5 1736 0.00288018 868 0 0.00627989
10-5136416-A-G c.-221A>G 5_prime_UTR_premature_start_codon_gain AKR1C3 2 39466 5.06765E-5 19733 0 NA
10-5136487-A-G c.-150A>G 5_prime_UTR_premature_start_codon_gain AKR1C3 1 67514 1.48117E-5 33757 0 6.40738E-5
10-5136499-A-G c.-138A>G 5_prime_UTR_premature_start_codon_gain AKR1C3 13992 62128 0.225212 31064 60 0.33939
10-5136551-G-T c.-86G>T 5_prime_UTR_premature_start_codon_gain AKR1C3 273 76904 0.00354988 38452 4 0.0089192
10-5136573-T-C c.-64T>C 5_prime_UTR_premature_start_codon_gain AKR1C3 4 81458 4.91051E-5 40729 0 3.18959E-5
10-5136579-T-C c.-58T>C 5_prime_UTR_premature_start_codon_gain AKR1C3 41 81714 5.0175E-4 40857 0 0.00125313
10-5136588-C-G c.-49C>G 5_prime_UTR_premature_start_codon_gain AKR1C3 1 81972 1.21993E-5 40986 0 NA
10-5136621-AGACAAGTGACAGGGAAT-A p.Met1fs frameshift AKR1C3 51 82688 6.16776E-4 41344 0 8.28395E-4
10-5136640-G-T p.Asp2Tyr missense AKR1C3 5 82926 6.02947E-5 41463 0 3.82379E-4
10-5136645-C-T p.Ser3Ser synonymous AKR1C3 3 82974 3.61559E-5 41487 0 3.98229E-6
10-5136649-C-G p.His5Asp missense AKR1C3 4 82996 4.81951E-5 41498 0 4.11984E-5
10-5136651-C-G p.His5Gln missense AKR1C3 38761 82654 0.468955 41327 9384 0.600201
10-5136651-C-A p.His5Gln missense AKR1C3 1 83004 1.20476E-5 41502 0 NA
10-5136654-G-C p.Gln6His missense AKR1C3 4 83034 4.8173E-5 41517 0 4.94307E-5
10-5136666-A-C p.Leu10Leu synonymous AKR1C3 1 83088 1.20354E-5 41544 0 NA
10-5136670-G-C p.Asp12His missense AKR1C3 1 83098 1.2034E-5 41549 0 5.03525E-4
10-5136670-G-T p.Asp12Tyr missense AKR1C3 4 83098 4.81359E-5 41549 0 3.97997E-6
10-5136683-T-A p.Met16Lys missense AKR1C3 1 83100 1.20337E-5 41550 0 NA
10-5136686-C-T p.Pro17Leu missense AKR1C3 2 83096 2.40685E-5 41548 0 NA
10-5136695-G-T p.Gly20Val missense AKR1C3 2 83068 2.40767E-5 41534 0 1.64761E-5
10-5136696-A-T p.Gly20Gly synonymous AKR1C3 4 83062 4.81568E-5 41531 0 3.18593E-5
10-5136707-A-G p.Tyr24Cys missense AKR1C3 2 83056 2.40801E-5 41528 0 3.98035E-6
10-5136712-C-T p.Pro26Ser missense AKR1C3 2 83010 2.40935E-5 41505 0 3.98111E-6
10-5136713-C-T p.Pro26Leu missense AKR1C3 1 83006 1.20473E-5 41503 0 NA
10-5136724-A-G c.84+4A>G splice_region AKR1C3 1 82876 1.20662E-5 41438 0 1.6484E-5
10-5136725-GAAT-G c.84+6_84+8delAAT splice_region AKR1C3 2 82858 2.41377E-5 41429 0 NA
10-5136725-G-C c.84+5G>C splice_region AKR1C3 1 82860 1.20685E-5 41430 0 NA
10-5138595-C-T c.85-7C>T splice_region AKR1C3 1 83244 1.20129E-5 41622 0 6.25E-4
10-5138599-C-T c.85-3C>T splice_region AKR1C3 1 83250 1.2012E-5 41625 0 1.67154E-5
10-5138600-A-G c.85-2A>G splice_acceptor AKR1C3 1 83266 1.20097E-5 41633 0 3.99636E-6
10-5138602-G-A p.Val29Ile missense+splice_region AKR1C3 1 83268 1.20094E-5 41634 0 NA
10-5138606-C-A p.Pro30Gln missense AKR1C3 1 83292 1.2006E-5 41646 0 3.18451E-5
10-5138607-G-A p.Pro30Pro synonymous AKR1C3 24217 81778 0.296131 40889 3621 0.336302
10-5138610-A-T p.Arg31Ser missense AKR1C3 1 83308 1.20036E-5 41654 0 NA
10-5138626-G-C p.Val37Leu missense AKR1C3 1 83326 1.20011E-5 41663 0 NA
10-5138632-A-G p.Lys39Glu missense AKR1C3 1 83334 1.19999E-5 41667 0 3.98197E-6
10-5138636-T-A p.Leu40* stop_gained AKR1C3 1 83338 1.19993E-5 41669 0 NA
10-5138642-T-C p.Ile42Thr missense AKR1C3 1 83340 1.1999E-5 41670 0 3.3E-5
10-5138652-G-C p.Gly45Gly synonymous AKR1C3 1 83358 1.19964E-5 41679 0 NA
10-5138656-C-T p.Arg47Cys missense AKR1C3 5 83356 5.99837E-5 41678 0 6.25E-4
10-5138663-T-C p.Ile49Thr missense AKR1C3 13 83380 1.55913E-4 41690 0 9.55414E-5
10-5138664-A-T c.-211A>T 5_prime_UTR_premature_start_codon_gain AKR1C3 2 83382 2.3986E-5 41691 0 NA
10-5138671-G-A p.Ala52Thr missense AKR1C3 2 83370 2.39894E-5 41685 0 NA
10-5138671-G-C p.Ala52Pro missense AKR1C3 1 83370 1.19947E-5 41685 0 3.18512E-5
10-5138672-C-G p.Ala52Gly missense AKR1C3 85 83368 0.00101958 41684 2 0.00312891
10-5138674-C-CATTT p.Tyr55fs frameshift AKR1C3 14 83374 1.67918E-4 41687 0 3.18492E-5
10-5138682-CAAT-C p.Asn57del conservative_inframe_deletion AKR1C3 6 83374 7.19649E-5 41687 0 3.82239E-4
10-5138688-TGAG-T p.Glu59del conservative_inframe_deletion AKR1C3 3 83376 3.59816E-5 41688 0 8.24375E-6
10-5138692-G-A p.Glu59Lys missense AKR1C3 16 83370 1.91916E-4 41685 0 0.0010101
10-5138703-A-G p.Gly62Gly synonymous AKR1C3 297 83346 0.00356346 41673 6 0.00774033
10-5138704-C-T c.-171C>T 5_prime_UTR_premature_start_codon_gain AKR1C3 1 83358 1.19964E-5 41679 0 NA
10-5138709-C-T p.Ala64Ala synonymous AKR1C3 1 83354 1.1997E-5 41677 0 3.29804E-5
10-5138710-A-G p.Ile65Val missense AKR1C3 2 83356 2.39935E-5 41678 0 3.97918E-6
10-5138711-T-C p.Ile65Thr missense AKR1C3 3 83356 3.59902E-5 41678 0 NA
10-5138713-C-T p.Arg66* stop_gained AKR1C3 4 83356 4.79869E-5 41678 0 3.29837E-5
10-5138714-G-A p.Arg66Gln missense AKR1C3 860 83336 0.0103197 41668 36 0.0236441
10-5138728-G-C p.Asp71His missense AKR1C3 1 83346 1.19982E-5 41673 0 NA
10-5138730-T-C p.Asp71Asp synonymous AKR1C3 1 83342 1.19988E-5 41671 0 8.25164E-6
10-5138732-G-A p.Gly72Asp missense AKR1C3 1 83338 1.19993E-5 41669 0 2.47611E-5
10-5138737-G-T p.Val74Leu missense AKR1C3 1 83332 1.20002E-5 41666 0 NA
10-5138738-T-C p.Val74Ala missense AKR1C3 1 83326 1.20011E-5 41663 0 3.18552E-5
10-5138742-G-A p.Lys75Lys synonymous AKR1C3 1 83308 1.20036E-5 41654 0 NA
10-5138743-A-G p.Arg76Gly missense AKR1C3 45 83294 5.40255E-4 41647 0 0.005
10-5138743-AGAG-A p.Arg76_Glu77delinsLys disruptive_inframe_deletion AKR1C3 4 83302 4.80181E-5 41651 0 3.30655E-5
10-5138747-A-G p.Glu77Gly missense AKR1C3 5018 83034 0.0604331 41517 139 0.0934343
10-5138749-G-A p.Asp78Asn missense AKR1C3 1 83266 1.20097E-5 41633 0 NA
10-5138751-CAT-C p.Phe80fs frameshift AKR1C3 1 83262 1.20103E-5 41631 0 NA
10-5138755-T-C p.Phe80Leu missense AKR1C3 2 83232 2.40292E-5 41616 0 1.59501E-5
10-5138767-A-G p.Lys84Glu missense+splice_region AKR1C3 1 83108 1.20325E-5 41554 0 8.34307E-6
10-5138773-C-T c.252+4C>T splice_region AKR1C3 2 83036 2.40859E-5 41518 0 2.80611E-5
10-5139617-CC-AT c.253-9_253-8delCCinsAT splice_region AKR1C3 2 83184 2.40431E-5 41592 0 NA
10-5139618-C-T c.253-8C>T splice_region AKR1C3 1 83184 1.20215E-5 41592 0 NA
10-5139622-GC-G c.253-3delC splice_region AKR1C3 1 83186 1.20213E-5 41593 0 4.7821E-5
10-5139622-G-T c.253-4G>T splice_region AKR1C3 1 83186 1.20213E-5 41593 0 3.18593E-5
10-5139626-C-T p.Leu85Phe missense+splice_region AKR1C3 2 83210 2.40356E-5 41605 0 9.55353E-5
10-5139630-G-C p.Trp86Ser missense AKR1C3 1 83218 1.20166E-5 41609 0 NA
10-5139638-T-A p.Phe89Ile missense AKR1C3 7 83216 8.41184E-5 41608 0 1.31405E-4
10-5139642-A-G p.His90Arg missense AKR1C3 17 83224 2.04268E-4 41612 0 3.46442E-4
10-5139644-C-T p.Arg91* stop_gained AKR1C3 48 83226 5.76743E-4 41613 0 0.00151057
10-5139652-G-C p.Glu93Asp missense AKR1C3 2 83232 2.40292E-5 41616 0 3.97905E-6
10-5139659-C-T p.Arg96* stop_gained AKR1C3 4 83234 4.80573E-5 41617 0 0.003125
10-5139660-G-A p.Arg96Gln missense AKR1C3 5 83234 6.00716E-5 41617 0 3.29511E-5
10-5139665-G-A p.Ala98Thr missense AKR1C3 1 83236 1.2014E-5 41618 0 NA
10-5139671-G-GA p.Asn101fs frameshift AKR1C3 2 83240 2.40269E-5 41620 0 8.2375E-6
10-5139685-G-A p.Lys104Lys synonymous AKR1C3 70201 83074 0.845042 41537 29702 0.893253
10-5139692-C-T p.Gln107* stop_gained AKR1C3 1 83212 1.20175E-5 41606 0 1.98931E-5
10-5139694-A-G p.Gln107Gln synonymous AKR1C3 90 83216 0.00108152 41608 0 6.48477E-4
10-5139696-T-C p.Leu108Ser missense AKR1C3 1 83222 1.20161E-5 41611 0 NA
10-5139710-C-T p.Leu113Phe missense AKR1C3 2 83178 2.40448E-5 41589 0 2.4715E-5
10-5139712-C-G c.-19C>G 5_prime_UTR_premature_start_codon_gain AKR1C3 1 83186 1.20213E-5 41593 0 3.18512E-5
10-5139737-C-G p.Leu122Val missense AKR1C3 8 83098 9.62719E-5 41549 0 6.25E-4
10-5139739-A-G p.Leu122Leu synonymous AKR1C3 1 83088 1.20354E-5 41544 0 NA
10-5139742-G-GCCAGGTGAGGAACTTTCACCAACAGATGAAAATGGAAAA c.369_369+1insCCAGGTGAGGAACTTTCACCAACAGATGAAAATGGAAAA splice_donor AKR1C3 2 83084 2.4072E-5 41542 1 NA
10-5139743-G-A c.369+1G>A splice_donor AKR1C3 1 83074 1.20375E-5 41537 0 6.36983E-5
10-5139745-A-G c.369+3A>G splice_region AKR1C3 8 83076 9.62974E-5 41538 0 1.91034E-4
10-5140995-C-T p.Pro124Leu missense+splice_region AKR1C3 2 82860 2.41371E-5 41430 0 3.18451E-5
10-5140998-G-A p.Gly125Asp missense AKR1C3 4 82864 4.82719E-5 41432 0 6.36902E-5
10-5141003-GA-G p.Glu127fs frameshift AKR1C3 5 82852 6.03486E-5 41426 0 3.15279E-4
10-5141007-T-C p.Leu128Pro missense AKR1C3 5 82860 6.03427E-5 41430 0 3.15465E-4
10-5141010-C-T p.Ser129Leu missense AKR1C3 2 82868 2.41348E-5 41434 0 1.59627E-5
10-5141035-A-C p.Val137Val synonymous AKR1C3 1 82806 1.20764E-5 41403 0 1.24265E-4
10-5141052-ATC-A p.Cys145fs frameshift AKR1C3 2 82684 2.41885E-5 41342 0 8.2861E-6
10-5141058-G-A p.Cys145Tyr missense AKR1C3 50 82640 6.05034E-4 41320 1 0.00257711
10-5141064-C-A p.Thr147Asn missense AKR1C3 1 82576 1.21101E-5 41288 0 NA
10-5141075-A-C c.447+4A>C splice_region AKR1C3 3 82466 3.63786E-5 41233 0 2.49153E-5
10-5141076-G-A c.447+5G>A splice_region AKR1C3 1 82466 1.21262E-5 41233 0 NA
10-5141511-C-A c.448-8C>A splice_region AKR1C3 3 83106 3.60985E-5 41553 0 9.55414E-5
10-5141514-C-T c.448-5C>T splice_region AKR1C3 1 83148 1.20267E-5 41574 0 1.59232E-5
10-5141515-A-C c.448-4A>C splice_region AKR1C3 1 83166 1.20241E-5 41583 0 2.47255E-5
10-5141521-C-G p.Ala150Ala splice_region+synonymous AKR1C3 1 83272 1.20088E-5 41636 0 NA
10-5141530-G-A p.Lys153Lys synonymous AKR1C3 671 83324 0.0080529 41662 20 0.0161486
10-5141541-C-A p.Ala157Glu missense AKR1C3 2 83382 2.3986E-5 41691 0 1.6478E-5
10-5141553-A-C p.Lys161Thr missense AKR1C3 1 83418 1.19878E-5 41709 0 NA
10-5141554-G-A p.Lys161Lys synonymous AKR1C3 2 83414 2.39768E-5 41707 0 NA
10-5141569-AAACTTC-A p.Phe168_Asn169del conservative_inframe_deletion AKR1C3 2 83426 2.39733E-5 41713 0 NA
10-5141572-C-G p.Asn167Lys missense AKR1C3 1 83426 1.19867E-5 41713 0 3.18471E-5
10-5141572-C-T p.Asn167Asn synonymous AKR1C3 1 83426 1.19867E-5 41713 0 NA
10-5141578-C-T p.Asn169Asn synonymous AKR1C3 1 83426 1.19867E-5 41713 0 3.18471E-5
10-5141579-C-T p.Arg170Cys missense AKR1C3 16 83418 1.91805E-4 41709 1 3.82239E-4
10-5141580-G-A p.Arg170His missense AKR1C3 1 83422 1.19872E-5 41711 0 3.18552E-5
10-5141583-G-T p.Arg171Met missense AKR1C3 2 83426 2.39733E-5 41713 0 8.2371E-6
10-5141585-C-T p.Gln172* stop_gained AKR1C3 3 83424 3.59609E-5 41712 0 1.64742E-5
10-5141590-G-A p.Leu173Leu synonymous AKR1C3 3 83424 3.59609E-5 41712 0 8.2371E-6
10-5141591-G-T p.Glu174* stop_gained AKR1C3 2 83424 2.39739E-5 41712 1 NA
10-5141604-A-T p.Asn155Ile missense+splice_region AKR1C3 15 83408 1.79839E-4 41704 0 3.18532E-5
10-5141608-G-A p.Lys179Lys synonymous AKR1C3 4 83420 4.79501E-5 41710 0 NA
10-5141608-G-T p.Lys179Asn missense AKR1C3 1 83420 1.19875E-5 41710 0 8.23655E-6
10-5141609-C-T p.Pro180Ser missense AKR1C3 1073 83382 0.0128685 41691 4 0.0188914
10-5141610-C-G p.Pro180Arg missense AKR1C3 1 83418 1.19878E-5 41709 0 3.9763E-6
10-5141613-G-C p.Gly181Ala missense AKR1C3 1 83418 1.19878E-5 41709 0 NA
10-5141619-A-G p.Lys183Arg missense AKR1C3 223 83416 0.00267335 41708 0 0.00166619
10-5141619-A-T p.Lys183Met missense AKR1C3 137 83420 0.00164229 41710 0 0.00280237
10-5141625-A-G p.Lys185Arg missense AKR1C3 1 83408 1.19893E-5 41704 0 NA
10-5141627-C-G p.Pro186Ala missense AKR1C3 1 83412 1.19887E-5 41706 0 8.23791E-6
10-5141639-C-T p.Gln190* stop_gained AKR1C3 58 83400 6.95444E-4 41700 0 0.00181529
10-5141642-G-A c.570+1G>A splice_donor AKR1C3 50 83398 5.99535E-4 41699 0 0.00114628
10-5141644-G-A c.570+3G>A splice_region AKR1C3 9 83392 1.07924E-4 41696 0 3.97855E-5
10-5144277-TTTTGGTCAAC-T c.571-15_571-6delTTTGGTCAAC splice_region AKR1C3 4 82682 4.83781E-5 41341 0 NA
10-5144286-A-G c.571-7A>G splice_region AKR1C3 4 82856 4.82765E-5 41428 0 8.2575E-6
10-5144290-C-A c.571-3C>A splice_region AKR1C3 68 82940 8.1987E-4 41470 0 7.29348E-4
10-5144290-C-T c.571-3C>T splice_region AKR1C3 1 82944 1.20563E-5 41472 0 3.18431E-5
10-5144295-A-G p.Val191Val splice_region+synonymous AKR1C3 1 83058 1.20398E-5 41529 0 NA
10-5144298-A-G p.Glu192Glu synonymous AKR1C3 4 83112 4.81278E-5 41556 0 6.25E-4
10-5144303-A-T p.His194Leu missense AKR1C3 1 83168 1.20239E-5 41584 0 NA
10-5144306-C-T p.Pro195Leu missense AKR1C3 82 83174 9.85885E-4 41587 1 0.00352823
10-5144307-G-T p.Pro195Pro synonymous AKR1C3 3 83184 3.60646E-5 41592 0 NA
10-5144307-G-A p.Pro195Pro synonymous AKR1C3 1 83184 1.20215E-5 41592 0 2.78574E-5
10-5144309-A-G p.Tyr196Cys missense AKR1C3 1 83206 1.20184E-5 41603 0 NA
10-5144316-C-G p.Asn198Lys missense AKR1C3 4 83236 4.80561E-5 41618 0 8.24144E-6
10-5144317-C-T p.Arg199Trp missense AKR1C3 8 83242 9.61053E-5 41621 0 5.03525E-4
10-5144318-G-A p.Arg199Gln missense AKR1C3 32 83256 3.84357E-4 41628 0 0.00138071
10-5144319-G-C p.Arg199Arg synonymous AKR1C3 5 83260 6.00528E-5 41630 0 3.29647E-5
10-5144320-A-C p.Ser200Arg missense AKR1C3 2 83254 2.40229E-5 41627 0 NA
10-5144323-A-T p.Lys201* stop_gained AKR1C3 1 83266 1.20097E-5 41633 0 3.97823E-6
10-5144326-T-A p.Leu202Met missense AKR1C3 2 83274 2.40171E-5 41637 0 NA
10-5144328-G-T p.Leu202Phe missense AKR1C3 1 83286 1.20068E-5 41643 0 NA
10-5144329-C-T p.Leu203Leu synonymous AKR1C3 2 83288 2.40131E-5 41644 0 1.1934E-5
10-5144335-T-G p.Phe205Val missense AKR1C3 1 83292 1.2006E-5 41646 0 3.97788E-6
10-5144336-T-TA p.Phe205fs frameshift AKR1C3 40 83294 4.80227E-4 41647 0 5.41298E-4
10-5144340-C-T p.Cys206Cys synonymous AKR1C3 2 83288 2.40131E-5 41644 0 8.24022E-6
10-5144343-G-T p.Lys207Asn missense AKR1C3 1 83292 1.2006E-5 41646 0 8.24008E-6
10-5144345-C-T p.Ser208Leu missense AKR1C3 28 83292 3.36167E-4 41646 0 3.18532E-4
10-5144346-G-A p.Ser208Ser synonymous AKR1C3 12 83290 1.44075E-4 41645 0 0.00151057
10-5144346-G-T p.Ser208Ser synonymous AKR1C3 2 83290 2.40125E-5 41645 0 3.18512E-5
10-5144352-T-G p.Asp210Glu missense AKR1C3 2 83296 2.40108E-5 41648 0 6.36821E-5
10-5144358-T-C p.Val212Val synonymous AKR1C3 12 83306 1.44047E-4 41653 0 6.36902E-5
10-5144363-T-C p.Val214Ala missense AKR1C3 1 83298 1.20051E-5 41649 0 7.41522E-5
10-5144365-G-A p.Ala215Thr missense AKR1C3 2 83294 2.40113E-5 41647 0 NA
10-5144369-A-G p.Tyr216Cys missense AKR1C3 1 83294 1.20057E-5 41647 0 3.9776E-6
10-5144376-T-C p.Ala218Ala synonymous AKR1C3 2 83294 2.40113E-5 41647 0 2.4717E-5
10-5144379-G-A p.Leu219Leu synonymous AKR1C3 1 83298 1.20051E-5 41649 0 NA
10-5144383-T-C p.Ser221Pro missense AKR1C3 1 83296 1.20054E-5 41648 0 NA
10-5144384-C-G p.Ser221Cys missense AKR1C3 1 83300 1.20048E-5 41650 0 3.98454E-6
10-5144387-A-G p.Gln222Arg missense AKR1C3 1 83296 1.20054E-5 41648 0 NA
10-5144389-C-T p.Arg223* stop_gained AKR1C3 1 83294 1.20057E-5 41647 0 1.64802E-5
10-5144390-G-A p.Arg223Gln missense AKR1C3 1 83292 1.2006E-5 41646 0 1.64804E-5
10-5144396-A-C p.Lys225Thr missense AKR1C3 3 83294 3.6017E-5 41647 0 NA
10-5144398-C-T p.Arg226* stop_gained AKR1C3 2 83294 2.40113E-5 41647 0 NA
10-5144406-A-G c.680+4A>G splice_region AKR1C3 2 83260 2.40211E-5 41630 0 2.78964E-5
10-5144406-AT-A c.680+5delT splice_region AKR1C3 1 83260 1.20106E-5 41630 0 NA
10-5144407-T-C c.680+5T>C splice_region AKR1C3 2 83242 2.40263E-5 41621 0 3.18552E-5
10-5144410-A-G c.680+8A>G splice_region AKR1C3 1 83252 1.20117E-5 41626 0 6.36821E-5
10-5144686-G-A p.Pro230Pro synonymous AKR1C3 2 79154 2.52672E-5 39577 0 5.13885E-6
10-5144695-G-A p.Pro233Pro synonymous AKR1C3 1 79148 1.26346E-5 39574 0 3.19939E-5
10-5144700-T-C p.Leu235Pro missense AKR1C3 4 79080 5.05817E-5 39540 0 3.32567E-5
10-5144701-C-G p.Leu235Leu synonymous AKR1C3 1 79110 1.26406E-5 39555 0 NA
10-5144709-ACCCAGTCCTTTGTGCCTTGGCAAAAAAGCACAAGCGAAC-A p.Val240_Pro252del disruptive_inframe_deletion AKR1C3 2 78842 2.53672E-5 39421 0 3.19877E-5
10-5144712-C-T p.Pro239Leu missense AKR1C3 1 78830 1.26855E-5 39415 0 4.59344E-6
10-5144720-T-C p.Cys242Arg missense AKR1C3 1 78614 1.27204E-5 39307 0 4.5832E-6
10-5144725-C-T p.Ala243Ala synonymous AKR1C3 2 78414 2.55056E-5 39207 0 NA
10-5144730-C-CA p.His248fs frameshift AKR1C3 1 78214 1.27854E-5 39107 0 4.69351E-6
10-5144744-C-T p.Arg250* stop_gained AKR1C3 1 77794 1.28545E-5 38897 0 7.62108E-5
10-5144760-T-C p.Ile255Thr missense AKR1C3 1 77420 1.29166E-5 38710 0 1.85151E-4
10-5144761-T-G p.Ile255Met missense AKR1C3 1 77380 1.29232E-5 38690 0 NA
10-5144762-GC-G p.Leu257fs frameshift AKR1C3 1 77310 1.29349E-5 38655 0 5.15794E-6
10-5144764-C-G p.Ala256Ala synonymous AKR1C3 1 77324 1.29326E-5 38662 0 NA
10-5144768-C-T p.Arg258Cys missense AKR1C3 708 77024 0.00919194 38512 23 0.0258972
10-5144769-G-A p.Arg258His missense AKR1C3 1 77098 1.29705E-5 38549 0 5.37964E-6
10-5144779-G-A p.Leu261Leu synonymous AKR1C3 2 76970 2.59841E-5 38485 0 0.00117647
10-5144784-G-A p.Arg263His missense AKR1C3 6 76888 7.80356E-5 38444 0 6.67111E-5
10-5144792-G-C p.Val266Leu missense AKR1C3 2 76772 2.60512E-5 38386 0 NA
10-5144795-G-T p.Val267Phe missense AKR1C3 1 76712 1.30358E-5 38356 0 3.70069E-5
10-5144796-T-C p.Val267Ala missense AKR1C3 1 76736 1.30317E-5 38368 0 3.19714E-5
10-5144802-C-G p.Ala269Gly missense AKR1C3 1 76594 1.30559E-5 38297 0 6.01685E-4
10-5144811-A-G p.Tyr272Cys missense AKR1C3 2 76578 2.61172E-5 38289 0 7.56361E-6
10-5144813-A-G p.Asn273Asp missense AKR1C3 1 76634 1.3049E-5 38317 0 4.60787E-5
10-5144814-A-G p.Asn273Ser missense AKR1C3 5 76622 6.52554E-5 38311 0 4.19346E-4
10-5144814-AT-A p.Asn273fs frameshift AKR1C3 4 76626 5.22016E-5 38313 0 9.3188E-5
10-5144816-G-T p.Glu274* stop_gained AKR1C3 2 76566 2.61213E-5 38283 0 NA
10-5144822-C-T p.Arg276Cys missense AKR1C3 23 76278 3.01529E-4 38139 0 6.31114E-4
10-5144823-G-A p.Arg276His missense AKR1C3 1 76328 1.31014E-5 38164 0 5.49209E-5
10-5144829-GAC-G p.Gln279fs frameshift AKR1C3 5 76250 6.55738E-5 38125 0 NA
10-5144831-CAG-C p.Asn280fs frameshift AKR1C3 1 76142 1.31334E-5 38071 0 NA
10-5144836-C-T p.Asn280Asn synonymous AKR1C3 1 75872 1.31801E-5 37936 0 4.25894E-5
10-5144837-G-A p.Val281Met missense AKR1C3 1 75886 1.31777E-5 37943 0 1.49165E-4
10-5144841-A-C p.Gln282Pro missense+splice_region AKR1C3 2 75824 2.63769E-5 37912 0 NA
10-5144845-G-A c.846+3G>A splice_region AKR1C3 1 75768 1.31982E-5 37884 0 1.16276E-5
10-5147780-C-CTGAT c.847-6_847-3dupTGAT splice_acceptor AKR1C3 1 83216 1.20169E-5 41608 0 3.18939E-5
10-5147785-AG-A p.Val283fs frameshift AKR1C3 1 83256 1.20111E-5 41628 0 NA
10-5147788-T-C p.Val283Ala missense+splice_region AKR1C3 1 83268 1.20094E-5 41634 0 NA
10-5147794-A-G p.Glu285Gly missense AKR1C3 2 83278 2.40159E-5 41639 0 NA
10-5147801-G-A p.Gln287Gln synonymous AKR1C3 1 83284 1.20071E-5 41642 0 7.96914E-6
10-5147801-G-T p.Gln287His missense AKR1C3 1 83284 1.20071E-5 41642 0 NA
10-5147808-G-A p.Ala290Thr missense AKR1C3 1 83288 1.20065E-5 41644 0 3.98245E-6
10-5147809-C-T p.Ala290Val missense AKR1C3 33 83292 3.96197E-4 41646 0 0.00151057
10-5147809-C-CAG p.Asp292fs frameshift AKR1C3 4 83292 4.80238E-5 41646 0 NA
10-5147817-A-G p.Met293Val missense AKR1C3 1 83296 1.20054E-5 41648 0 NA
10-5147827-T-C p.Ile296Thr missense AKR1C3 3 83298 3.60153E-5 41649 0 8.59993E-6
10-5147835-C-A p.Leu299Ile missense AKR1C3 28 83296 3.36151E-4 41648 1 0.001875
10-5147838-G-C p.Asp300His missense AKR1C3 1 83298 1.20051E-5 41649 0 3.982E-6
10-5147840-C-T p.Asp300Asp synonymous AKR1C3 11 83304 1.32046E-4 41652 0 2.54777E-4
10-5147842-G-C p.Arg301Thr missense AKR1C3 1 83304 1.20042E-5 41652 0 1.73765E-5
10-5147846-T-A p.Asn302Lys missense AKR1C3 6 83310 7.20202E-5 41655 0 3.18573E-5
10-5147859-AAC-A p.Asn307fs frameshift AKR1C3 1 83294 1.20057E-5 41647 0 NA
10-5147869-G-C p.Ser310Thr missense+splice_region AKR1C3 30 83264 3.603E-4 41632 0 8.28184E-4
10-5149646-T-C c.930-7T>C splice_region AKR1C3 1 82526 1.21174E-5 41263 0 NA
10-5149649-T-G c.930-4T>G splice_region AKR1C3 5720 82374 0.0694394 41187 180 0.085625
10-5149649-T-C c.930-4T>C splice_region AKR1C3 2 82550 2.42277E-5 41275 0 NA
10-5149650-C-T c.930-3C>T splice_region AKR1C3 1 82550 1.21139E-5 41275 0 NA
10-5149662-C-A p.Ser313Arg missense AKR1C3 2 82632 2.42037E-5 41316 0 NA
10-5149665-C-A p.His314Gln missense AKR1C3 3 82694 3.62783E-5 41347 0 NA
10-5149667-C-A p.Pro315His missense AKR1C3 1 82728 1.20878E-5 41364 0 4.00731E-6
10-5149668-T-TA p.Asn316fs frameshift AKR1C3 1 82740 1.20861E-5 41370 0 4.00452E-6
10-5149678-T-A p.Tyr319Asn missense AKR1C3 2 82812 2.41511E-5 41406 0 NA
10-5149679-A-C p.Tyr319Ser missense AKR1C3 1 82820 1.20744E-5 41410 0 NA
10-5149683-A-G p.Ser320Ser synonymous AKR1C3 1 82854 1.20694E-5 41427 0 NA
10-5149689-A-G p.Glu322Glu synonymous AKR1C3 4 82898 4.82521E-5 41449 0 5.77205E-5
10-5149691-A-G p.Tyr323Cys missense AKR1C3 3 82894 3.61908E-5 41447 0 3.20711E-5
10-5149692-T-G p.Tyr323* stop_gained AKR1C3 3 82888 3.61934E-5 41444 0 4.1229E-5