Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
8-38964561-G-GA p.Met1fs frameshift ADAM32 14 10366 0.00135057 5183 0 0.00224057
8-38964579-G-C p.Ala4Ala synonymous ADAM32 2 10482 1.90803E-4 5241 0 9.14997E-6
8-38964584-T-TG p.Phe6fs frameshift ADAM32 2 10498 1.90512E-4 5249 0 4.34488E-5
8-38964585-C-A p.Phe6Leu missense ADAM32 2 10504 1.90404E-4 5252 0 4.35889E-5
8-38964593-T-C p.Met9Thr missense ADAM32 2 10496 1.90549E-4 5248 0 0.00125156
8-38964647-G-A p.Cys27Tyr missense ADAM32 4218 10246 0.411673 5123 903 0.446643
8-38964678-AATATT-A p.Ile38fs frameshift ADAM32 1 10272 9.7352E-5 5136 0 NA
8-38964715-T-C p.Leu50Leu synonymous ADAM32 12 9800 0.00122449 4900 0 9.01274E-4
8-38964726-T-C c.151+8T>C splice_region ADAM32 1 9486 1.05419E-4 4743 0 3.18695E-5
8-38965055-C-G c.-240C>G 5_prime_UTR_premature_start_codon_gain ADAM32 1 35588 2.80994E-5 17794 0 NA
8-38965146-A-G c.-149A>G 5_prime_UTR_premature_start_codon_gain ADAM32 4 66084 6.0529E-5 33042 0 1.26573E-5
8-38965211-G-A p.Ala6Ala synonymous ADAM32 48 78232 6.1356E-4 39116 0 0.00166347
8-38965218-G-GGCGTCCGC p.Pro14fs frameshift ADAM32 2 78624 2.54375E-5 39312 0 1.37501E-5
8-38965225-G-GCGCGTCCC p.Trp17fs frameshift ADAM32 83 78710 0.0010545 39355 1 0.00970812
8-38965225-G-A p.Arg11His missense ADAM32 1 78714 1.27042E-5 39357 0 6.80476E-6
8-38965226-C-T p.Arg11Arg synonymous ADAM32 8 78790 1.01536E-4 39395 0 4.80776E-5
8-38965234-C-G p.Pro14Arg missense ADAM32 1 79148 1.26346E-5 39574 0 NA
8-38965258-C-T p.Ser22Phe missense ADAM32 1 79060 1.26486E-5 39530 0 1.32972E-5
8-38965269-C-G p.Pro26Ala missense ADAM32 20 78866 2.53595E-4 39433 0 5.09944E-4
8-38965271-C-T c.-24C>T 5_prime_UTR_premature_start_codon_gain ADAM32 32355 78116 0.414192 39058 6953 0.450882
8-38965279-G-A p.Ser29Asn missense ADAM32 1 78666 1.2712E-5 39333 0 NA
8-38965280-C-T p.Ser29Ser synonymous ADAM32 21 78686 2.66884E-4 39343 0 2.55102E-4
8-38965282-C-G p.Pro30Arg missense ADAM32 1 78678 1.271E-5 39339 0 1.33248E-5
8-38965282-C-T p.Pro30Leu missense ADAM32 1 78678 1.271E-5 39339 0 NA
8-38965283-C-A p.Pro30Pro synonymous ADAM32 3 78638 3.81495E-5 39319 0 1.33308E-5
8-38965283-C-G p.Pro30Pro synonymous ADAM32 3 78638 3.81495E-5 39319 0 3.18878E-5
8-38965288-C-A p.Ala32Asp missense ADAM32 1 78600 1.27226E-5 39300 0 NA
8-38965289-C-T c.-6C>T 5_prime_UTR_premature_start_codon_gain ADAM32 13 78586 1.65424E-4 39293 0 2.54988E-4
8-38965290-G-T p.Ala33Ser missense ADAM32 2 78566 2.54563E-5 39283 0 7.335E-5
8-38965290-G-A p.Ala33Thr missense ADAM32 2 78566 2.54563E-5 39283 0 6.66818E-6
8-38965295-A-G p.Met1? start_lost ADAM32 1 78590 1.27243E-5 39295 0 6.65735E-6
8-38965303-C-T p.Ala37Val missense ADAM32 4 78530 5.09359E-5 39265 0 0.00281532
8-38965314-T-C p.Leu7Pro missense ADAM32 1 78400 1.27551E-5 39200 0 NA
8-38965318-G-A p.Trp42* stop_gained ADAM32 1 78314 1.27691E-5 39157 0 NA
8-38965320-C-T p.Ala9Val missense ADAM32 1 78262 1.27776E-5 39131 0 NA
8-38965322-G-A p.Gly10Arg missense ADAM32 1 78218 1.27848E-5 39109 0 NA
8-38965324-G-A p.Gly44Asp missense ADAM32 558 78168 0.00713847 39084 3 0.0104712
8-38965330-C-T p.Ala46Val missense ADAM32 1 78050 1.28123E-5 39025 0 0.0011236
8-38965351-C-T p.Pro53Leu missense+splice_region ADAM32 1 77536 1.28972E-5 38768 0 NA
8-38965355-G-A c.58+3G>A splice_region ADAM32 4 77438 5.16542E-5 38719 0 5.62738E-5
8-38965501-C-T c.-384C>T 5_prime_UTR_premature_start_codon_gain ADAM32 1 41338 2.41908E-5 20669 0 NA
8-38965592-C-T c.-293C>T 5_prime_UTR_premature_start_codon_gain ADAM32 1 15070 6.6357E-5 7535 0 NA
8-38975595-ATC-TTT c.59-10_59-8delATCinsTTT splice_region ADAM32 7 77148 9.07347E-5 38574 0 NA
8-38975595-ATCTC-TTTTT c.59-10_59-6delATCTCinsTTTTT splice_region ADAM32 2 77182 2.59128E-5 38591 0 NA
8-38975597-C-T c.59-8C>T splice_region ADAM32 2 77554 2.57885E-5 38777 0 0.00834403
8-38975599-C-T c.59-6C>T splice_region ADAM32 4 77908 5.13426E-5 38954 0 0.00513479
8-38975602-C-T c.59-3C>T splice_region ADAM32 1 78272 1.2776E-5 39136 0 NA
8-38975605-G-A p.Gly20Asp missense+splice_region ADAM32 5 78406 6.37706E-5 39203 0 6.69344E-4
8-38975628-A-G p.Ile28Val missense ADAM32 1 78968 1.26634E-5 39484 0 5.04032E-5
8-38975630-C-T c.-139C>T 5_prime_UTR_premature_start_codon_gain ADAM32 1 78792 1.26916E-5 39396 0 9.06931E-6
8-38975638-C-T p.Pro31Leu missense ADAM32 1 79042 1.26515E-5 39521 0 NA
8-38975653-C-T p.Thr36Ile missense ADAM32 1 78938 1.26682E-5 39469 0 NA
8-38975663-T-C p.Asn39Asn synonymous ADAM32 1 78836 1.26846E-5 39418 0 1.77968E-5
8-38975680-A-C p.Glu45Ala missense ADAM32 1 78042 1.28136E-5 39021 0 9.93641E-6
8-38975692-A-T c.138+8A>T splice_region ADAM32 2 76880 2.60146E-5 38440 0 3.1957E-5
8-38987490-T-C n.45-5T>C splice_region ADAM32 1 6624 1.50966E-4 3312 0 3.60776E-5
8-38994186-C-G p.Ser50Cys missense ADAM32 39 79954 4.8778E-4 39977 0 3.48691E-4
8-38994197-C-G p.Pro54Ala missense ADAM32 1 80110 1.24828E-5 40055 0 5.36302E-6
8-38994201-T-A p.Ile55Lys missense ADAM32 1 80072 1.24888E-5 40036 0 6.56254E-5
8-38994212-CTG-C p.Tyr60fs frameshift ADAM32 6 80044 7.49588E-5 40022 0 3.48827E-4
8-38994213-TGTAC-T p.Tyr60fs frameshift ADAM32 1 80096 1.2485E-5 40048 0 NA
8-38994223-G-A p.Val62Val synonymous ADAM32 16 79946 2.00135E-4 39973 0 0.00202634
8-38994229-T-G c.-31T>G 5_prime_UTR_premature_start_codon_gain ADAM32 2 79780 2.50689E-5 39890 0 NA
8-38994231-A-C p.Lys65Thr missense ADAM32 3 79760 3.76128E-5 39880 0 NA
8-39004641-A-G c.201-8A>G splice_region ADAM32 1 63796 1.5675E-5 31898 0 1.42203E-5
8-39004647-A-G c.201-2A>G splice_acceptor ADAM32 1 64792 1.5434E-5 32396 0 1.32795E-5
8-39004671-A-T p.Met75Leu missense ADAM32 1 66488 1.50403E-5 33244 0 NA
8-39004682-G-A p.Leu78Leu synonymous ADAM32 1 66784 1.49736E-5 33392 0 1.19893E-5
8-39004691-A-G p.Gln81Gln synonymous ADAM32 4 67076 5.96338E-5 33538 0 3.19836E-5
8-39004698-A-G p.Met84Val missense ADAM32 2 66940 2.98775E-5 33470 0 6.52997E-5
8-39007315-A-G p.Gln94Gln synonymous ADAM32 1 81160 1.23213E-5 40580 0 NA
8-39007331-A-G p.Asn100Asp missense ADAM32 1 81322 1.22968E-5 40661 0 NA
8-39007370-A-T p.Thr113Ser missense ADAM32 1 81312 1.22983E-5 40656 0 NA
8-39007371-C-T p.Thr113Met missense ADAM32 3 81298 3.69013E-5 40649 0 2.4233E-5
8-39007371-C-G p.Thr113Arg missense ADAM32 2 81298 2.46009E-5 40649 0 3.18613E-5
8-39007372-G-A p.Thr113Thr synonymous ADAM32 1 81292 1.23013E-5 40646 0 9.56206E-5
8-39007376-T-C p.Ser115Pro missense ADAM32 1 81276 1.23038E-5 40638 0 NA
8-39007378-T-C p.Ser115Ser synonymous ADAM32 1 81250 1.23077E-5 40625 0 3.18492E-5
8-39007382-C-T p.Leu117Leu synonymous ADAM32 2 81210 2.46275E-5 40605 0 NA
8-39008909-T-G p.Phe123Val missense ADAM32 1 81606 1.2254E-5 40803 0 NA
8-39008919-T-TATATAATAAGAAAC p.Ser127fs frameshift ADAM32 1 81632 1.22501E-5 40816 0 NA
8-39008921-T-TTA p.Ser127fs frameshift ADAM32 1 81650 1.22474E-5 40825 0 NA
8-39008922-C-CTTTTAAAAATAAAATTTGGCAGAA p.Ser127_Tyr128insPheLysAsnLysIleTrpGlnAsn disruptive_inframe_insertion ADAM32 1 81644 1.22483E-5 40822 0 NA
8-39008928-G-T p.Gly129Val missense ADAM32 1 81746 1.2233E-5 40873 0 1.89456E-4
8-39008944-A-T p.Glu134Asp missense ADAM32 1 81888 1.22118E-5 40944 0 NA
8-39008962-G-T p.Gln140His missense ADAM32 1 81944 1.22035E-5 40972 0 NA
8-39008976-A-T p.Lys145Ile missense ADAM32 1 81940 1.22041E-5 40970 0 NA
8-39008978-T-C p.Leu146Leu synonymous ADAM32 1 81934 1.22049E-5 40967 0 NA
8-39009000-T-C p.Ile153Thr missense ADAM32 4 81808 4.8895E-5 40904 0 3.18979E-5
8-39009012-T-C p.Ile157Thr missense ADAM32 4 81740 4.89356E-5 40870 0 2.11771E-5
8-39009016-C-A p.Asp158Glu missense ADAM32 2 81712 2.44762E-5 40856 0 4.2738E-6
8-39009017-A-G c.354-2A>G splice_acceptor ADAM32 2 81706 2.4478E-5 40853 0 3.18918E-5
8-39009038-A-G p.Met166Val missense ADAM32 1 81468 1.22748E-5 40734 0 NA
8-39009044-G-A p.Asp168Asn missense ADAM32 3 81350 3.68777E-5 40675 0 4.19351E-5
8-39009050-AT-A p.Phe171fs frameshift ADAM32 4 81122 4.93084E-5 40561 0 3.37228E-5
8-39009055-T-A p.Phe171Leu missense ADAM32 4 80956 4.94096E-5 40478 0 3.39317E-5
8-39009073-T-C c.525+6T>C splice_region ADAM32 1 79956 1.25069E-5 39978 0 NA
8-39018408-T-C c.526-8T>C splice_region ADAM32 1 81772 1.22291E-5 40886 0 2.90895E-5
8-39018419-G-T p.Glu177* stop_gained ADAM32 1 81928 1.22058E-5 40964 0 8.9744E-6
8-39018434-G-T p.Asp182Tyr missense ADAM32 1 82004 1.21945E-5 41002 0 NA
8-39018444-C-T p.Pro185Leu missense ADAM32 1 82004 1.21945E-5 41002 0 NA
8-39018457-A-T p.Glu189Asp missense ADAM32 4 82012 4.87733E-5 41006 0 6.2385E-5
8-39018470-G-A p.Val194Met missense ADAM32 4 81944 4.88138E-5 40972 0 6.45182E-5
8-39018474-A-G p.Asp195Gly missense ADAM32 1 81930 1.22055E-5 40965 0 NA
8-39018480-C-T p.Thr197Ile missense ADAM32 4 81836 4.88782E-5 40918 0 NA
8-39022284-A-G p.Tyr199Cys missense+splice_region ADAM32 1 80866 1.23661E-5 40433 0 3.36383E-5
8-39022288-T-G p.Asp200Glu missense ADAM32 1 81108 1.23292E-5 40554 0 6.36943E-5
8-39022295-G-A p.Gly203Ser missense ADAM32 4 81260 4.92247E-5 40630 0 5.04032E-4
8-39022297-C-T p.Gly203Gly synonymous ADAM32 2 81300 2.46002E-5 40650 0 1.66842E-5
8-39022301-G-A p.Asp205Asn missense ADAM32 1 81374 1.22889E-5 40687 0 NA
8-39022304-A-G p.Ser206Gly missense ADAM32 1 81424 1.22814E-5 40712 0 4.07691E-6
8-39022311-T-C p.Ile208Thr missense ADAM32 3 81528 3.67972E-5 40764 0 1.21852E-5
8-39022312-A-G p.Ile208Met missense ADAM32 16 81528 1.96252E-4 40764 0 6.36943E-4
8-39022325-G-A p.Val213Ile missense ADAM32 17 81612 2.08303E-4 40806 0 9.99117E-5
8-39022330-C-T p.Ile214Ile synonymous ADAM32 23 81548 2.82042E-4 40774 0 5.24703E-4
8-39022331-G-A p.Glu215Lys missense ADAM32 1 81578 1.22582E-5 40789 0 8.32972E-6
8-39022332-A-T p.Glu215Val missense ADAM32 6 81604 7.35258E-5 40802 0 NA
8-39022337-G-T p.Val217Phe missense ADAM32 1 81620 1.22519E-5 40810 0 3.18613E-5
8-39022545-T-C c.667-4T>C splice_region ADAM32 2 81620 2.45038E-5 40810 0 4.28655E-6
8-39022556-C-A p.Thr225Asn missense ADAM32 1 81692 1.22411E-5 40846 0 NA
8-39022560-A-G p.Gln226Gln synonymous ADAM32 1 81720 1.22369E-5 40860 0 NA
8-39022576-G-A p.Val232Met missense ADAM32 1 81826 1.22211E-5 40913 0 NA
8-39022585-T-A p.Ser235Thr missense ADAM32 32 81818 3.91112E-4 40909 0 9.88142E-4
8-39022592-A-C p.Glu237Ala missense ADAM32 2 81804 2.44487E-5 40902 0 3.32486E-5
8-39022594-T-C p.Leu238Leu synonymous ADAM32 1 81810 1.22234E-5 40905 0 NA
8-39022600-T-C p.Ser240Pro missense ADAM32 1 81754 1.22318E-5 40877 0 NA
8-39022604-A-G p.Asp241Gly missense ADAM32 1 81750 1.22324E-5 40875 0 NA
8-39022610-A-G p.Asn243Ser missense ADAM32 1 81734 1.22348E-5 40867 0 3.18613E-5
8-39022615-A-G p.Ile245Val missense ADAM32 1 81688 1.22417E-5 40844 0 8.10498E-6
8-39022623-A-C p.Thr247Thr synonymous ADAM32 1 81664 1.22453E-5 40832 0 3.32851E-5
8-39022657-T-A p.Leu259Ile missense ADAM32 1 81444 1.22784E-5 40722 0 NA
8-39022660-G-T p.Glu260* stop_gained ADAM32 1 81416 1.22826E-5 40708 0 NA
8-39022677-T-C p.Tyr265Tyr synonymous ADAM32 2 81284 2.46051E-5 40642 0 NA
8-39022683-C-T p.Asn267Asn synonymous ADAM32 1 81200 1.23153E-5 40600 0 6.37308E-5
8-39022684-C-A p.Leu268Ile missense ADAM32 2 81192 2.4633E-5 40596 0 6.27353E-4
8-39022684-C-G p.Leu268Val missense ADAM32 1 81192 1.23165E-5 40596 0 NA
8-39022688-G-A p.Arg269Lys missense ADAM32 1 81108 1.23292E-5 40554 0 NA
8-39022694-A-T p.His271Leu missense ADAM32 1 80950 1.23533E-5 40475 0 1.0126E-5
8-39022704-A-G p.Ala274Ala synonymous ADAM32 1 80724 1.23879E-5 40362 0 2.32703E-5
8-39022706-A-G p.Tyr275Cys missense ADAM32 1 80660 1.23977E-5 40330 0 4.49317E-5
8-39022708-C-A p.Leu276Ile missense ADAM32 3 80572 3.72338E-5 40286 0 3.18817E-5
8-39022715-T-C p.Ile278Thr missense+splice_region ADAM32 1 80266 1.24586E-5 40133 0 1.00323E-5
8-39027438-T-C p.Tyr279Tyr synonymous ADAM32 1 79636 1.25571E-5 39818 0 8.51165E-6
8-39027440-T-A p.Met280Lys missense ADAM32 1 79736 1.25414E-5 39868 0 NA
8-39027451-C-T p.Arg284Cys missense ADAM32 1 80212 1.2467E-5 40106 0 1.67059E-5
8-39027452-G-A p.Arg284His missense ADAM32 6 80198 7.48148E-5 40099 0 1.27559E-4
8-39027453-T-C p.Arg284Arg synonymous ADAM32 1 80368 1.24428E-5 40184 0 3.18695E-5
8-39027477-A-G p.Gly292Gly synonymous ADAM32 2 80562 2.48256E-5 40281 0 2.49451E-5
8-39027493-C-T p.Arg298Cys missense ADAM32 1 80434 1.24326E-5 40217 0 8.31891E-6
8-39027494-G-A p.Arg298His missense ADAM32 17 80350 2.11574E-4 40175 0 1.59408E-4
8-39027508-G-A p.Val303Ile missense ADAM32 43 80172 5.36347E-4 40086 0 0.00117902
8-39027520-T-A c.915+4T>A splice_region ADAM32 1 79986 1.25022E-5 39993 0 NA
8-39027521-GTA-G c.915+6_915+7delTA splice_region ADAM32 1 79876 1.25194E-5 39938 0 NA
8-39044421-A-G c.916-7A>G splice_region ADAM32 1 81520 1.22669E-5 40760 0 NA
8-39044422-T-C c.916-6T>C splice_region ADAM32 2 81606 2.4508E-5 40803 0 6.36983E-5
8-39044424-A-C c.916-4A>C splice_region ADAM32 1 81696 1.22405E-5 40848 0 NA
8-39044428-T-A p.Tyr306Asn missense+splice_region ADAM32 5 81736 6.11726E-5 40868 0 4.16729E-5
8-39044432-C-G p.Pro307Arg missense ADAM32 1 82034 1.21901E-5 41017 0 NA
8-39044435-A-G p.Lys308Arg missense ADAM32 1 82080 1.21832E-5 41040 0 4.05877E-6
8-39044437-G-A p.Glu309Lys missense ADAM32 3 82108 3.65372E-5 41054 0 2.42827E-5
8-39044440-ATAACTCTGGAGG-A p.Ile310_Ala314delinsThr disruptive_inframe_deletion ADAM32 8 82130 9.74065E-5 41065 0 1.21303E-5
8-39044452-G-A p.Ala314Thr missense ADAM32 24 82242 2.91822E-4 41121 0 6.25E-4
8-39044455-T-C p.Phe315Leu missense ADAM32 3 82266 3.64671E-5 41133 0 4.02194E-6
8-39044473-C-T p.Gln321* stop_gained ADAM32 2 82318 2.4296E-5 41159 0 6.36821E-5
8-39044476-A-T p.Met322Leu missense ADAM32 1 82318 1.2148E-5 41159 0 3.18431E-5
8-39044499-A-G p.Ile329Met missense ADAM32 6 82320 7.28863E-5 41160 0 0.00125
8-39044502-A-G p.Ser330Ser synonymous ADAM32 3 82316 3.64449E-5 41158 0 NA
8-39044508-C-T p.Asp332Asp synonymous ADAM32 8 82306 9.71983E-5 41153 0 1.90881E-4
8-39044509-G-A p.Asp333Asn missense ADAM32 2 82296 2.43025E-5 41148 0 NA
8-39044526-A-G p.Gln338Gln synonymous ADAM32 1 82292 1.21518E-5 41146 0 1.60801E-5
8-39044529-T-C p.Cys339Cys synonymous ADAM32 1 82286 1.21527E-5 41143 0 7.4813E-5
8-39044533-G-C p.Glu341Gln missense ADAM32 1 82258 1.21569E-5 41129 0 NA
8-39068655-A-G c.1053-8A>G splice_region ADAM32 10 79220 1.26231E-4 39610 0 1.2738E-4
8-39068660-T-C c.1053-3T>C splice_region ADAM32 2 79994 2.50019E-5 39997 0 1.27372E-4
8-39068666-A-G p.Gln352Gln synonymous ADAM32 2 80500 2.48447E-5 40250 0 4.53502E-6
8-39068667-T-G p.Ser353Ala missense ADAM32 1 80500 1.24224E-5 40250 0 8.7974E-6
8-39068671-A-G p.Asn354Ser missense ADAM32 30 80670 3.71885E-4 40335 0 7.96991E-4
8-39068683-C-G p.Thr358Ser missense ADAM32 1 81342 1.22938E-5 40671 0 6.25E-4
8-39068684-T-A p.Thr358Thr synonymous ADAM32 157 81368 0.00192951 40684 0 0.0025
8-39068690-C-T p.Ser360Ser synonymous ADAM32 1 81422 1.22817E-5 40711 0 8.58782E-6
8-39068714-A-T p.Gln368His missense ADAM32 1 81892 1.22112E-5 40946 0 NA
8-39068716-A-G p.Asn369Ser missense ADAM32 3 81920 3.66211E-5 40960 0 NA
8-39068728-A-G p.Asn373Ser missense ADAM32 3 81970 3.65988E-5 40985 0 3.18918E-5
8-39068742-T-C p.Cys378Arg missense ADAM32 10 82044 1.21886E-4 41022 0 2.86789E-4
8-39068759-A-G p.Pro383Pro synonymous ADAM32 1 82110 1.21788E-5 41055 0 1.25015E-5
8-39068765-GC-TG p.MetGln385IleGlu missense ADAM32 60 82118 7.30656E-4 41059 0 NA
8-39068765-G-T p.Met385Ile missense ADAM32 5 82120 6.08865E-5 41060 0 0.00209502
8-39068766-C-G p.Gln386Glu missense ADAM32 5 82102 6.08999E-5 41051 0 0.00213325
8-39068766-CA-C p.Lys388fs frameshift ADAM32 1 82102 1.218E-5 41051 0 0.0040404
8-39068779-C-T p.Pro390Leu missense ADAM32 21 82084 2.55835E-4 41042 0 8.60585E-4
8-39068780-G-A p.Pro390Pro synonymous ADAM32 1 82086 1.21823E-5 41043 0 0.00201613
8-39068788-T-A p.Val393Asp missense ADAM32 1 82078 1.21835E-5 41039 0 NA
8-39068800-G-A p.Gly397Asp missense ADAM32 1 81908 1.22088E-5 40954 0 NA
8-39068803-G-T p.Arg398Ile missense ADAM32 1 81890 1.22115E-5 40945 0 NA
8-39068808-G-A p.Glu400Lys missense ADAM32 2 81712 2.44762E-5 40856 0 3.18431E-5
8-39068810-G-A p.Glu400Glu synonymous ADAM32 14 81722 1.71312E-4 40861 0 2.44866E-4
8-39068840-G-A p.Glu410Glu synonymous ADAM32 2 80432 2.48657E-5 40216 0 NA
8-39079151-G-A p.Cys419Tyr missense ADAM32 1 81280 1.23031E-5 40640 0 NA
8-39079160-G-A p.Arg422Gln missense ADAM32 18 81280 2.21457E-4 40640 0 6.25E-4
8-39079179-C-T p.Asp428Asp synonymous ADAM32 5 81330 6.14779E-5 40665 0 2.88153E-4
8-39079180-G-A p.Gly429Arg missense ADAM32 2 81306 2.45984E-5 40653 0 3.18715E-5
8-39079186-A-C p.Lys431Gln missense ADAM32 1 81308 1.22989E-5 40654 0 NA
8-39079192-T-C p.Tyr433His missense ADAM32 3 81220 3.69367E-5 40610 0 2.75979E-5
8-39079208-G-T p.Cys438Phe missense ADAM32 2 80948 2.47072E-5 40474 0 8.13901E-6
8-39079211-A-G p.Lys439Arg missense ADAM32 2 80852 2.47366E-5 40426 0 1.97985E-5
8-39079213-G-C p.Asp440His missense ADAM32 3 80814 3.71223E-5 40407 0 1.22426E-5
8-39079228-T-G c.1326+7T>G splice_region ADAM32 4 80398 4.97525E-5 40199 0 1.08486E-5
8-39079229-T-A c.1326+8T>A splice_region ADAM32 5 80388 6.21983E-5 40194 0 4.14821E-5
8-39080567-A-T p.Gln445His missense ADAM32 1 81352 1.22923E-5 40676 0 NA
8-39080573-C-T p.Gly447Gly synonymous ADAM32 4 81436 4.91183E-5 40718 0 6.1541E-5
8-39080574-G-A p.Val448Ile missense ADAM32 16 81466 1.96401E-4 40733 0 4.39332E-4
8-39080576-T-A p.Val448Val synonymous ADAM32 1 81552 1.22621E-5 40776 0 NA
8-39080595-C-T p.His455Tyr missense ADAM32 6 81692 7.34466E-5 40846 0 9.35279E-5
8-39080608-A-C p.Asp459Ala missense ADAM32 1 81724 1.22363E-5 40862 0 NA
8-39080612-C-T p.Ile460Ile synonymous ADAM32 3 81698 3.67206E-5 40849 0 4.22678E-5
8-39080613-G-A p.Ala461Thr missense ADAM32 19 81666 2.32655E-4 40833 0 0.00100705
8-39080617-A-C p.Glu462Ala missense ADAM32 1 81728 1.22357E-5 40864 0 NA
8-39080627-T-C p.Asn465Asn synonymous ADAM32 1 81710 1.22384E-5 40855 0 NA
8-39080632-C-G p.Thr467Ser missense ADAM32 79938 81476 0.981123 40738 39282 0.9925
8-39080645-T-C p.Cys471Cys synonymous ADAM32 1 81680 1.22429E-5 40840 0 3.19244E-5
8-39080646-G-C p.Gly472Arg missense ADAM32 1 81668 1.22447E-5 40834 0 NA
8-39080666-CA-C p.Asn479fs frameshift ADAM32 1 81646 1.2248E-5 40823 0 NA
8-39080680-G-A p.Cys483Tyr missense ADAM32 1 81542 1.22636E-5 40771 0 3.20143E-5
8-39080686-A-G p.Asn485Ser missense ADAM32 1 81552 1.22621E-5 40776 0 3.4658E-5
8-39080688-A-G p.Asn486Asp missense ADAM32 1 81528 1.22657E-5 40764 0 NA
8-39080691-A-G p.Lys487Glu missense ADAM32 2 81512 2.45363E-5 40756 0 5.80477E-5
8-39080709-G-A p.Gly493Arg missense ADAM32 2 81262 2.46117E-5 40631 0 1.41533E-4
8-39080718-C-T p.His496Tyr missense ADAM32 2 81224 2.46233E-5 40612 0 NA
8-39080732-A-C p.Ala500Ala synonymous ADAM32 1 81132 1.23256E-5 40566 0 6.40287E-5
8-39080733-C-T p.Arg501Cys missense ADAM32 3 81062 3.70087E-5 40531 0 3.20821E-5
8-39080734-G-A p.Arg501His missense ADAM32 3 81058 3.70105E-5 40529 0 3.20451E-5
8-39080747-A-G p.Val505Val synonymous ADAM32 2 80792 2.47549E-5 40396 0 3.20225E-5
8-39080760-A-G c.1525+3A>G splice_region ADAM32 1 80336 1.24477E-5 40168 0 NA
8-39080761-A-G c.1525+4A>G splice_region ADAM32 4 80318 4.9802E-5 40159 0 3.32116E-5
8-39089555-A-G p.Asn512Ser missense ADAM32 4 81710 4.89536E-5 40855 0 2.4914E-5
8-39089586-A-G p.Gln522Gln synonymous ADAM32 37 81750 4.52599E-4 40875 0 9.55292E-4
8-39089592-A-G p.Gln524Gln synonymous ADAM32 4 81716 4.895E-5 40858 0 6.25E-4
8-39089627-A-G p.Asn536Ser missense ADAM32 1 81670 1.22444E-5 40835 0 4.03388E-6
8-39089629-A-G p.Asn537Asp missense ADAM32 2 81664 2.44906E-5 40832 0 1.65942E-5
8-39089637-T-C p.Tyr539Tyr synonymous ADAM32 2 81554 2.45236E-5 40777 0 4.0543E-6
8-39089638-G-A p.Val540Met missense ADAM32 1 81536 1.22645E-5 40768 0 4.06312E-6
8-39089646-T-C p.Cys542Cys synonymous ADAM32 1 81444 1.22784E-5 40722 0 4.10674E-6
8-39089651-G-A p.Trp544* stop_gained ADAM32 3 81368 3.68695E-5 40684 0 3.18573E-5
8-39089655-G-A c.1634+1G>A splice_donor ADAM32 4 81248 4.9232E-5 40624 0 3.18674E-5
8-39089657-A-G c.1634+3A>G splice_region ADAM32 6 81158 7.39299E-5 40579 0 3.39605E-5
8-39091410-G-A c.1635-8G>A splice_region ADAM32 2 78250 2.55591E-5 39125 0 NA
8-39091426-T-C p.Ile548Thr missense ADAM32 1 79084 1.26448E-5 39542 0 1.81594E-5
8-39091443-T-G p.Cys554Gly missense ADAM32 2 79938 2.50194E-5 39969 0 NA
8-39091459-G-A p.Arg559Gln missense ADAM32 20 80714 2.47788E-4 40357 0 0.00151057
8-39091464-C-A p.Pro561Thr missense ADAM32 2 80838 2.47408E-5 40419 0 0.00151057
8-39091482-G-A p.Gly567Ser missense ADAM32 41 80976 5.06323E-4 40488 0 0.00302115
8-39091502-C-T p.Phe573Phe synonymous ADAM32 4 81084 4.93316E-5 40542 0 5.05051E-4
8-39091503-G-A p.Val574Ile missense ADAM32 2 81044 2.4678E-5 40522 0 1.68469E-5
8-39091506-C-T p.Arg575* stop_gained ADAM32 10 81084 1.23329E-4 40542 1 2.26008E-4
8-39091518-T-A p.Cys579Ser missense ADAM32 2 81148 2.46463E-5 40574 0 NA
8-39091521-A-G p.Ile580Val missense ADAM32 4 81108 4.9317E-5 40554 0 3.18593E-5
8-39091522-T-A p.Ile580Lys missense ADAM32 1 81090 1.2332E-5 40545 0 3.18695E-5
8-39091526-T-C p.Thr581Thr synonymous ADAM32 17370 80490 0.215803 40245 2004 0.29688
8-39091545-C-T p.Arg588* stop_gained ADAM32 2 80610 2.48108E-5 40305 0 6.51593E-5
8-39091546-G-A p.Arg588Gln missense ADAM32 245 80566 0.00304098 40283 5 0.00761972
8-39091550-A-G p.Thr589Thr synonymous ADAM32 1 80308 1.24521E-5 40154 0 1.68328E-4
8-39091557-G-A p.Asp592Asn missense ADAM32 1 80220 1.24657E-5 40110 0 NA
8-39091561-C-T p.Pro593Leu missense ADAM32 3 79604 3.76866E-5 39802 0 3.6539E-5
8-39091569-G-A p.Val596Ile missense ADAM32 1 79374 1.25986E-5 39687 0 NA
8-39091577-T-C p.Asn598Asn synonymous ADAM32 1 79172 1.26307E-5 39586 0 NA
8-39091594-T-C p.Ile604Thr missense ADAM32 1 77996 1.28212E-5 38998 0 3.18756E-5
8-39103604-T-C p.Val607Val splice_region+synonymous ADAM32 2 81838 2.44385E-5 40919 0 NA
8-39103614-C-T p.Arg611Cys missense ADAM32 2 81906 2.44182E-5 40953 0 1.60736E-5
8-39103615-G-A p.Arg611His missense ADAM32 7 81888 8.54826E-5 40944 0 6.37227E-5
8-39103622-T-C p.Cys613Cys synonymous ADAM32 1 82004 1.21945E-5 41002 0 NA
8-39103635-A-C p.Ile618Leu missense ADAM32 2 82024 2.43831E-5 41012 0 8.03742E-6
8-39103644-G-C p.Ala621Pro missense ADAM32 1 82000 1.21951E-5 41000 0 4.02068E-6
8-39103645-C-T p.Ala621Val missense ADAM32 6 82010 7.31618E-5 41005 0 0.00100705
8-39103658-T-C p.Val625Val synonymous ADAM32 11 81946 1.34235E-4 40973 0 4.14883E-5
8-39103660-G-T p.Cys626Phe missense ADAM32 7 81920 8.54492E-5 40960 0 4.02026E-6
8-39103665-C-T p.Gln628* stop_gained ADAM32 1 81880 1.2213E-5 40940 0 NA
8-39103675-C-A p.Ser631Tyr missense ADAM32 1 81776 1.22285E-5 40888 0 NA
8-39103675-C-T p.Ser631Phe missense ADAM32 1 81776 1.22285E-5 40888 0 8.30275E-6
8-39103678-G-C p.Gly632Ala missense ADAM32 1 81728 1.22357E-5 40864 0 NA
8-39103683-G-A p.Gly634Arg missense+splice_region ADAM32 77 81680 9.42703E-4 40840 0 0.00100705
8-39103686-G-GCTCTTTTTTGGTTCCATTGGTC c.1902+1_1902+2insCTCTTTTTTGGTTCCATTGGTC splice_donor ADAM32 1 81606 1.2254E-5 40803 0 NA
8-39111929-C-T c.1903-4C>T splice_region ADAM32 2 81140 2.46488E-5 40570 0 2.47807E-5
8-39111932-G-A c.1903-1G>A splice_acceptor ADAM32 1 81266 1.23053E-5 40633 0 NA
8-39111934-T-A p.Val635Glu missense+splice_region ADAM32 1 81312 1.22983E-5 40656 0 2.21838E-5
8-39111937-G-A p.Cys636Tyr missense ADAM32 1 81370 1.22895E-5 40685 0 4.44986E-6
8-39111942-T-A p.Ser638Thr missense ADAM32 1 81466 1.22751E-5 40733 0 NA
8-39111964-C-T p.Ser645Leu missense ADAM32 1 81618 1.22522E-5 40809 0 6.01375E-5
8-39111965-G-A p.Ser645Ser synonymous ADAM32 31 81560 3.80088E-4 40780 0 8.18577E-4
8-39111969-G-A p.Gly647Ser missense ADAM32 1 81654 1.22468E-5 40827 0 NA
8-39111978-C-T p.Pro650Ser missense ADAM32 3 81668 3.67341E-5 40834 0 1.27979E-5
8-39111993-A-AT p.Arg656fs frameshift ADAM32 1 81618 1.22522E-5 40809 0 NA
8-39111996-C-T p.Arg656Cys missense ADAM32 4 81534 4.90593E-5 40767 0 8.81741E-6
8-39111997-G-A p.Arg656His missense ADAM32 84 81496 0.00103073 40748 1 0.00503525
8-39111998-T-C p.Arg656Arg synonymous ADAM32 1 81550 1.22624E-5 40775 0 3.65003E-5
8-39112006-G-A p.Gly659Glu missense ADAM32 1 81456 1.22766E-5 40728 0 6.40615E-5
8-39112014-A-G p.Ile662Val missense ADAM32 6 81346 7.3759E-5 40673 0 2.23714E-4
8-39112015-T-C p.Ile662Thr missense ADAM32 4 81316 4.91908E-5 40658 0 3.94836E-5
8-39112017-T-A p.Phe663Ile missense ADAM32 1 81322 1.22968E-5 40661 0 1.99936E-5
8-39112021-C-T p.Pro664Leu missense ADAM32 3 81250 3.69231E-5 40625 0 5.04032E-4
8-39112023-G-A p.Glu665Lys missense ADAM32 1 81234 1.23101E-5 40617 0 NA
8-39112025-G-A p.Glu665Glu synonymous ADAM32 1 81182 1.2318E-5 40591 0 3.19918E-5
8-39112033-T-C p.Met668Thr missense+splice_region ADAM32 1643 80854 0.0203206 40427 95 0.0420447
8-39114696-CTG-TTT c.2006-10_2006-8delCTGinsTTT splice_region ADAM32 5 80386 6.21999E-5 40193 0 NA
8-39114698-G-T c.2006-8G>T splice_region ADAM32 4 80394 4.9755E-5 40197 0 0.00750939
8-39114705-G-T c.2006-1G>T splice_acceptor ADAM32 1 80376 1.24415E-5 40188 0 1.02592E-4
8-39114711-A-G p.Ile671Val missense ADAM32 2 81586 2.4514E-5 40793 0 NA
8-39114717-G-GA p.Arg674fs frameshift ADAM32 1 81604 1.22543E-5 40802 0 NA
8-39114719-A-AAAAATCATTAT p.Arg674fs frameshift ADAM32 4 81730 4.89416E-5 40865 0 1.27573E-5
8-39114719-A-G p.Glu673Glu synonymous ADAM32 1 81742 1.22336E-5 40871 0 8.66927E-6
8-39114720-A-AAAATCATTATAGAATT p.Arg674fs frameshift ADAM32 1 81734 1.22348E-5 40867 0 4.24899E-6
8-39114722-A-AATT p.Arg674_Ala675insIle conservative_inframe_insertion ADAM32 1 81818 1.22222E-5 40909 0 4.19217E-6
8-39114723-G-GTAAT p.Ala675fs frameshift ADAM32 1 81974 1.2199E-5 40987 0 4.15141E-6
8-39114728-T-C p.Ser676Ser synonymous ADAM32 1 82278 1.21539E-5 41139 0 NA
8-39114735-A-C p.Thr679Pro missense ADAM32 1 82358 1.21421E-5 41179 0 NA
8-39114747-T-C p.Trp683Arg missense ADAM32 1 82488 1.2123E-5 41244 0 2.51105E-5
8-39114760-T-G p.Phe687Cys missense ADAM32 1 82604 1.2106E-5 41302 0 4.16119E-5
8-39114764-C-G p.Leu688Leu synonymous ADAM32 1 82610 1.21051E-5 41305 0 NA
8-39114777-A-G p.Ile693Val missense ADAM32 35 82636 4.23544E-4 41318 0 0.0020141
8-39114779-T-C p.Ile693Ile synonymous ADAM32 3 82640 3.6302E-5 41320 0 2.00887E-5
8-39114793-C-T p.Thr698Ile missense ADAM32 1 82604 1.2106E-5 41302 0 8.30868E-6
8-39114794-C-T p.Thr698Thr synonymous ADAM32 15 82600 1.81598E-4 41300 0 5.03525E-4
8-39114794-C-A p.Thr698Thr synonymous ADAM32 2 82600 2.42131E-5 41300 0 NA
8-39114795-G-T p.Ala699Ser missense ADAM32 2 82600 2.42131E-5 41300 0 8.04214E-6
8-39114795-G-A p.Ala699Thr missense ADAM32 4 82600 4.84262E-5 41300 0 5.22739E-5
8-39114798-A-G p.Ile700Val missense ADAM32 1 82594 1.21074E-5 41297 0 4.01913E-6
8-39114804-T-A p.Leu702Met missense ADAM32 1 82594 1.21074E-5 41297 0 4.0179E-6
8-39114825-A-G p.Lys709Glu missense ADAM32 1 82484 1.21236E-5 41242 0 4.02E-6
8-39114828-T-C p.Trp710Arg missense ADAM32 3 82438 3.6391E-5 41219 0 NA
8-39114833-C-T p.Phe711Phe synonymous ADAM32 20 82396 2.4273E-4 41198 0 0.00114872
8-39114840-G-A p.Glu714Lys missense ADAM32 1 82348 1.21436E-5 41174 0 NA
8-39114842-A-G p.Glu714Glu synonymous ADAM32 2 82336 2.42907E-5 41168 0 4.99925E-5
8-39114843-G-T p.Glu715* stop_gained ADAM32 2 82298 2.43019E-5 41149 0 4.02758E-6
8-39114844-AG-A p.Glu716fs frameshift ADAM32 1 82288 1.21524E-5 41144 0 NA
8-39114845-GGA-TGT p.GluGlu715AspVal missense ADAM32 3 82270 3.64653E-5 41135 0 NA
8-39114848-A-G p.Glu716Glu synonymous ADAM32 2 82252 2.43155E-5 41126 0 NA
8-39114851-C-T p.Phe717Phe synonymous ADAM32 1 82176 1.2169E-5 41088 0 6.39304E-5
8-39114855-A-G p.Ser719Gly missense ADAM32 4 82142 4.86962E-5 41071 0 5.00442E-5
8-39114860-C-T p.Ser720Ser splice_region+synonymous ADAM32 3 82004 3.65836E-5 41002 0 3.20677E-5
8-39114861-G-A p.Glu721Lys missense+splice_region ADAM32 21 81988 2.56135E-4 40994 0 1.57506E-4
8-39128386-TC-T c.2163-8delC splice_region ADAM32 1 80618 1.24042E-5 40309 0 2.27881E-4
8-39128387-C-T c.2163-8C>T splice_region ADAM32 16969 79858 0.21249 39929 1910 0.250806
8-39128401-A-G p.Lys723Lys synonymous ADAM32 1 80804 1.23756E-5 40402 0 3.18512E-5
8-39128404-G-A p.Ser724Ser synonymous ADAM32 3 80736 3.71581E-5 40368 0 0.0025
8-39128422-A-G p.Thr730Thr synonymous ADAM32 41 80938 5.06561E-4 40469 0 0.00110058
8-39128427-C-A p.Ala732Asp missense ADAM32 1 80946 1.23539E-5 40473 0 NA
8-39128432-C-G p.Gln734Glu missense+splice_region ADAM32 2 80974 2.46993E-5 40487 0 8.12942E-6
8-39128436-A-G c.2201+3A>G splice_region ADAM32 1 80872 1.23652E-5 40436 0 8.84596E-6
8-39131830-G-C c.2202-1G>C splice_acceptor ADAM32 20 81904 2.44188E-4 40952 0 4.1423E-5
8-39131837-C-T p.Ser736Ser synonymous ADAM32 1 81932 1.22052E-5 40966 0 NA
8-39131846-C-G p.Gly739Gly synonymous ADAM32 5 81954 6.10098E-5 40977 0 4.01445E-6
8-39131846-C-A p.Gly739Gly synonymous ADAM32 1 81954 1.2202E-5 40977 0 NA
8-39131856-A-G p.Thr743Ala missense ADAM32 3 81962 3.66023E-5 40981 0 8.28459E-6
8-39131869-A-G p.Gln747Arg missense+splice_region ADAM32 2 81914 2.44159E-5 40957 0 4.01868E-6
8-39133340-C-A c.2241-7C>A splice_region ADAM32 1 82056 1.21868E-5 41028 0 NA
8-39133342-T-G c.2241-5T>G splice_region ADAM32 2 82066 2.43706E-5 41033 0 NA
8-39133349-C-G p.Thr748Ser missense+splice_region ADAM32 22 82068 2.6807E-4 41034 0 0.00273793
8-39133364-G-A p.Ser753Asn missense ADAM32 341 82180 0.00414943 41090 1 0.00790262
8-39133378-A-G p.Thr758Ala missense ADAM32 1 82104 1.21797E-5 41052 0 NA
8-39133379-C-T p.Thr758Ile missense ADAM32 180 82104 0.00219234 41052 1 0.00208535
8-39133379-C-A p.Thr758Asn missense ADAM32 1 82108 1.21791E-5 41054 0 NA
8-39133383-C-A p.Ser759Arg missense+splice_region ADAM32 5 82060 6.0931E-5 41030 0 1.2751E-4
8-39133389-A-G c.2279+4A>G splice_region ADAM32 1 82010 1.21936E-5 41005 0 1.19666E-5
8-39138653-A-G c.2280-2A>G splice_acceptor ADAM32 1 72956 1.37069E-5 36478 0 NA
8-39138655-A-G p.Lys760Lys splice_region+synonymous ADAM32 19 73106 2.59897E-4 36553 0 4.804E-4
8-39138663-C-A p.Ser763* stop_gained ADAM32 1 73640 1.35796E-5 36820 0 NA
8-39138670-T-C p.Asp765Asp synonymous ADAM32 1 74238 1.34702E-5 37119 0 1.02239E-5
8-39138686-A-G p.Thr771Ala missense ADAM32 1 74838 1.33622E-5 37419 0 NA
8-39141099-C-G c.2319-6C>G splice_region ADAM32 1302 80350 0.0162041 40175 43 0.0318692
8-39141110-A-T p.Lys775Ile missense ADAM32 5 80526 6.20917E-5 40263 0 1.60154E-4
8-39141111-A-G p.Lys775Lys synonymous ADAM32 1 80452 1.24298E-5 40226 0 4.07209E-6
8-39141115-C-T p.Gln777* stop_gained ADAM32 1 80568 1.24119E-5 40284 0 6.42013E-5
8-39141117-G-A p.Gln777Gln synonymous ADAM32 2 80588 2.48176E-5 40294 0 0.00125
8-39141120-C-A p.Asp778Glu missense ADAM32 3926 80386 0.0488393 40193 539 0.104683
8-39141126-C-T p.Thr780Thr synonymous ADAM32 2 80600 2.48139E-5 40300 0 NA
8-39141143-G-A p.Ser786Asn missense+splice_region ADAM32 2 80540 2.48324E-5 40270 0 NA
8-39141150-A-G c.2357+7A>G splice_region ADAM32 1 80334 1.2448E-5 40167 0 NA
8-39142309-C-T c.2358-3C>T splice_region ADAM32 1 82094 1.21812E-5 41047 0 1.67664E-5
8-39142312-T-A p.Ser786Arg missense+splice_region ADAM32 23 82086 2.80194E-4 41043 0 5.41643E-4
8-39142427-T-C c.*109T>C splice_region ADAM32 1 78734 1.2701E-5 39367 0 NA