Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
4-100045612-C-T p.Arg375Gln missense ADH4 3 81078 3.70014E-5 40539 0 3.45761E-5
4-100045613-G-A p.Arg375* stop_gained ADH4 1 80996 1.23463E-5 40498 0 4.47948E-5
4-100045615-A-C p.Val374Gly missense+splice_region ADH4 2 81048 2.46767E-5 40524 0 6.71057E-4
4-100045615-AC-CT p.Val374Ser missense+splice_region ADH4 1 81048 1.23384E-5 40524 0 NA
4-100045616-C-T p.Val374Ile missense+splice_region ADH4 54737 77870 0.702928 38935 19796 0.785
4-100045623-A-T c.1119-6T>A splice_region ADH4 3 80994 3.70398E-5 40497 0 1.34374E-5
4-100047740-T-C c.1118+5A>G splice_region ADH4 9 82442 1.09168E-4 41221 0 4.95172E-5
4-100047745-C-CT p.Ser373fs frameshift ADH4 1 82604 1.2106E-5 41302 0 NA
4-100047760-A-C p.Met368Arg missense ADH4 1 82696 1.20925E-5 41348 0 NA
4-100047769-A-G p.Phe365Ser missense ADH4 2 82778 2.4161E-5 41389 0 3.58354E-5
4-100047769-A-T p.Phe365Tyr missense ADH4 1 82778 1.20805E-5 41389 0 1.64775E-5
4-100047773-CCTCA-C p.Ser362fs frameshift ADH4 1 82686 1.20939E-5 41343 0 1.11462E-4
4-100047782-T-C p.Ile361Val missense ADH4 2 82706 2.4182E-5 41353 0 NA
4-100047786-G-C p.Asp359Glu missense ADH4 1 82750 1.20846E-5 41375 0 NA
4-100047788-C-CA p.Asp359fs frameshift ADH4 1 82766 1.20823E-5 41383 0 8.23764E-6
4-100047790-A-G p.Phe358Ser missense ADH4 1 82762 1.20828E-5 41381 0 8.2375E-6
4-100047794-G-T p.Pro357Thr missense ADH4 1 82788 1.2079E-5 41394 0 NA
4-100047797-G-A p.Leu356Leu synonymous ADH4 1 82860 1.20685E-5 41430 0 NA
4-100047804-G-T p.Thr353Thr synonymous ADH4 2 82874 2.4133E-5 41437 0 7.96026E-6
4-100047806-T-G p.Thr353Pro missense ADH4 3 82874 3.61995E-5 41437 0 3.98007E-6
4-100047808-A-G p.Val352Ala missense ADH4 1 82866 1.20677E-5 41433 0 NA
4-100047812-G-A p.Leu351Leu synonymous ADH4 20575 82360 0.249818 41180 2865 0.240181
4-100047816-A-G p.Asp349Asp synonymous ADH4 1 82818 1.20747E-5 41409 0 3.29522E-5
4-100047828-TTTCTTA-T p.Asn343_Lys344del disruptive_inframe_deletion ADH4 1 82726 1.20881E-5 41363 0 3.29554E-5
4-100047839-T-A p.Lys342* stop_gained ADH4 1 82662 1.20975E-5 41331 0 NA
4-100047847-G-C p.Thr339Ser missense ADH4 1 82558 1.21127E-5 41279 0 1.64837E-5
4-100047860-GG-AA p.IlePro334IleSer missense ADH4 1 82380 1.21389E-5 41190 0 NA
4-100047864-A-C p.Ser333Ser synonymous ADH4 1 82296 1.21513E-5 41148 0 NA
4-100047883-C-T p.Gly327Asp missense+splice_region ADH4 1 81690 1.22414E-5 40845 0 NA
4-100047890-T-A c.980-7A>T splice_region ADH4 1852 81284 0.0227843 40642 61 0.0431914
4-100047891-G-A c.980-8C>T splice_region ADH4 1 81378 1.22883E-5 40689 0 NA
4-100048367-G-C p.Phe324Leu missense ADH4 1 82990 1.20496E-5 41495 0 NA
4-100048383-G-C p.Thr319Ser missense ADH4 1 83082 1.20363E-5 41541 0 1.29249E-4
4-100048386-C-T p.Arg318His missense ADH4 14 83054 1.68565E-4 41527 0 3.2306E-4
4-100048394-T-G p.Ile315Ile synonymous ADH4 2 83110 2.40645E-5 41555 0 1.64837E-5
4-100048408-G-GA p.Pro311fs frameshift ADH4 2 83194 2.40402E-5 41597 1 NA
4-100048409-A-T p.Phe310Leu missense ADH4 1 83192 1.20204E-5 41596 0 8.23954E-6
4-100048413-A-G p.Ile309Thr missense ADH4 1 83210 1.20178E-5 41605 0 NA
4-100048414-T-C p.Ile309Val missense ADH4 58612 82072 0.714153 41036 21173 0.78375
4-100048420-A-G p.Leu307Leu synonymous ADH4 1 83232 1.20146E-5 41616 0 8.23845E-6
4-100048446-A-G p.Ile298Thr missense ADH4 22 83270 2.64201E-4 41635 0 2.05968E-4
4-100048471-C-T p.Ala290Thr missense ADH4 2 83242 2.40263E-5 41621 0 8.81276E-5
4-100048472-G-A p.Thr289Thr synonymous ADH4 2 83238 2.40275E-5 41619 0 1.97765E-4
4-100048479-C-T p.Cys287Tyr missense ADH4 3 83230 3.60447E-5 41615 0 9.56267E-5
4-100048499-T-C c.844-4A>G splice_region ADH4 2 82682 2.41891E-5 41341 0 3.452E-5
4-100052648-T-C c.843+7A>G splice_region ADH4 1 82768 1.2082E-5 41384 0 4.01677E-5
4-100052649-A-G c.843+6T>C splice_region ADH4 2 82786 2.41587E-5 41393 0 NA
4-100052651-A-G c.843+4T>C splice_region ADH4 2 82840 2.41429E-5 41420 0 1.20265E-5
4-100052654-C-T c.843+1G>A splice_donor ADH4 1 82882 1.20653E-5 41441 0 2.00357E-5
4-100052660-T-A p.Thr280Ser missense ADH4 2 83014 2.40923E-5 41507 0 NA
4-100052674-GCA-G p.Ala275fs frameshift ADH4 30 83154 3.60776E-4 41577 0 0.00100705
4-100052687-CA-C p.Phe270fs frameshift ADH4 1 83226 1.20155E-5 41613 0 NA
4-100052691-A-T p.Asp269Glu missense ADH4 1 83232 1.20146E-5 41616 0 NA
4-100052693-C-T p.Asp269Asn missense ADH4 1 83238 1.20137E-5 41619 0 NA
4-100052696-C-T p.Val268Met missense ADH4 1 83240 1.20135E-5 41620 0 NA
4-100052704-T-G p.Lys265Thr missense ADH4 1 83240 1.20135E-5 41620 0 1.19386E-5
4-100052709-C-A p.Leu263Phe missense ADH4 1 83242 1.20132E-5 41621 0 7.95881E-6
4-100052716-A-G p.Ile261Thr missense ADH4 6 83242 7.2079E-5 41621 0 5.76939E-5
4-100052728-T-C p.Gln257Arg missense ADH4 1 83234 1.20143E-5 41617 0 NA
4-100052733-C-A p.Pro255Pro synonymous ADH4 59525 83006 0.717117 41503 21591 0.784375
4-100052765-C-G p.Asp245His missense ADH4 1 83178 1.20224E-5 41589 0 3.97905E-6
4-100052774-C-T p.Gly242Arg missense ADH4 5 83160 6.01251E-5 41580 0 NA
4-100052795-A-G p.Phe235Leu missense ADH4 1 83176 1.20227E-5 41588 0 3.18735E-5
4-100052803-C-CATAGG p.Ser232fs frameshift ADH4 11 83190 1.32227E-4 41595 0 6.37064E-5
4-100052805-G-A n.706C>T splice_region ADH4 11 83186 1.32234E-4 41593 0 6.37105E-5
4-100052806-T-C p.Asn231Ser missense ADH4 1 83192 1.20204E-5 41596 0 3.29544E-5
4-100052818-C-T p.Gly227Asp missense ADH4 4 83200 4.80769E-5 41600 0 9.0623E-5
4-100052818-C-A p.Gly227Val missense ADH4 124 83196 0.00149046 41598 0 0.0012422
4-100052824-A-G p.Ile225Thr missense ADH4 1 83210 1.20178E-5 41605 0 5.03525E-4
4-100052827-C-A p.Arg206Ile missense+splice_region ADH4 1 83204 1.20187E-5 41602 0 NA
4-100052830-G-A p.Ser223Phe missense ADH4 1 83200 1.20192E-5 41600 0 NA
4-100052834-C-T p.Ala222Thr missense ADH4 2 83204 2.40373E-5 41602 0 9.15044E-5
4-100052854-A-G p.Met215Thr missense ADH4 1 83196 1.20198E-5 41598 0 NA
4-100052859-AG-A p.Ala213fs frameshift ADH4 1 83190 1.20207E-5 41595 0 NA
4-100052873-C-A p.Val209Leu missense ADH4 1 83174 1.2023E-5 41587 0 8.24974E-6
4-100052873-C-T p.Val209Met missense ADH4 1 83174 1.2023E-5 41587 0 NA
4-100052880-T-A p.Leu206Leu synonymous ADH4 1 83156 1.20256E-5 41578 0 NA
4-100052891-C-T p.Val203Ile missense ADH4 2 83122 2.4061E-5 41561 0 3.18431E-5
4-100052901-C-A p.Ser199Ser synonymous ADH4 1 83062 1.20392E-5 41531 0 NA
4-100052902-G-A p.Ser199Leu missense ADH4 1 83040 1.20424E-5 41520 0 4.14745E-5
4-100052904-A-T p.Gly198Gly synonymous ADH4 1 83024 1.20447E-5 41512 0 NA
4-100057663-CC-AT p.Gly179Ile missense ADH4 11 83268 1.32104E-4 41634 0 NA
4-100057675-ACT-A p.Arg174fs frameshift ADH4 1 83274 1.20085E-5 41637 0 NA
4-100057682-C-T p.Glu173Lys missense ADH4 1 83272 1.20088E-5 41636 0 1.64728E-5
4-100057689-T-C n.303A>G splice_region ADH4 2 83250 2.4024E-5 41625 0 8.23642E-6
4-100057694-C-A p.Asp169Tyr missense ADH4 1 83240 1.20135E-5 41620 0 NA
4-100057697-C-G p.Asp168His missense ADH4 1 83234 1.20143E-5 41617 0 NA
4-100057708-G-A p.Ala164Val missense ADH4 1 83192 1.20204E-5 41596 0 NA
4-100057718-TA-T p.Asp160fs frameshift ADH4 4 83170 4.80943E-5 41585 0 NA
4-100057720-T-A p.Asp160Val missense ADH4 5 83168 6.01193E-5 41584 0 NA
4-100057720-T-C p.Asp160Gly missense ADH4 2 83168 2.40477E-5 41584 0 1.64734E-5
4-100057727-C-A p.Val158Leu missense ADH4 51 83132 6.13482E-4 41566 0 0.00111029
4-100057743-G-A p.Phe152Phe synonymous ADH4 2 83108 2.40651E-5 41554 0 8.2371E-6
4-100057761-G-C p.Phe146Leu missense ADH4 1 83106 1.20328E-5 41553 0 6.36943E-5
4-100057768-T-G p.Tyr144Ser missense ADH4 2 83090 2.40703E-5 41545 0 3.1837E-5
4-100057771-A-C p.Val143Gly missense ADH4 1 83096 1.20343E-5 41548 0 NA
4-100057786-C-G p.Cys138Ser missense ADH4 2 83100 2.40674E-5 41550 0 NA
4-100057797-G-A c.351-3C>T splice_region ADH4 5 83108 6.01627E-5 41554 0 1.27372E-4
4-100057805-T-C p.Lys132Glu missense ADH4 2 83114 2.40633E-5 41557 0 NA
4-100057810-T-C p.Glu130Gly missense ADH4 1 83094 1.20346E-5 41547 0 3.98134E-6
4-100057827-A-G p.Ser124Ser synonymous ADH4 1 83036 1.2043E-5 41518 0 NA
4-100057829-T-C p.Ser124Gly missense ADH4 2 83034 2.40865E-5 41517 0 2.39509E-5
4-100057832-C-G p.Ala123Pro missense ADH4 1 83002 1.20479E-5 41501 0 NA
4-100057837-C-G p.Ser121Thr missense ADH4 1 82962 1.20537E-5 41481 0 8.05614E-6
4-100060235-G-A p.Leu109Leu synonymous ADH4 1 83040 1.20424E-5 41520 0 NA
4-100060236-A-G p.Leu109Pro missense ADH4 1 83046 1.20415E-5 41523 0 NA
4-100060239-G-A p.Pro108Leu missense ADH4 1 83046 1.20415E-5 41523 0 3.18654E-5
4-100060240-G-T p.Pro108Thr missense ADH4 1 83042 1.20421E-5 41521 0 NA
4-100060267-A-G p.Cys99Arg missense ADH4 2 83038 2.40854E-5 41519 0 3.18512E-5
4-100060271-A-G p.Pro97Pro synonymous ADH4 1 83050 1.20409E-5 41525 0 NA
4-100060273-G-A p.Pro97Ser missense ADH4 6 83040 7.22543E-5 41520 0 1.42809E-4
4-100060277-A-G p.Tyr95Tyr synonymous ADH4 1 83038 1.20427E-5 41519 0 1.6818E-5
4-100060302-A-G c.263-3T>C splice_region ADH4 2 82866 2.41354E-5 41433 0 3.4035E-5
4-100062685-A-G c.262+7T>C splice_region ADH4 1 82814 1.20753E-5 41407 0 NA
4-100062691-C-A c.262+1G>T splice_donor ADH4 2 82870 2.41342E-5 41435 0 NA
4-100062701-C-T p.Val85Ile missense ADH4 10 83004 1.20476E-4 41502 0 6.1232E-5
4-100062702-G-A p.Asn84Asn synonymous ADH4 1 83014 1.20462E-5 41507 0 3.18573E-5
4-100062706-G-A p.Thr83Ile missense ADH4 1 83058 1.20398E-5 41529 0 1.62526E-5
4-100062714-T-C p.Pro80Pro synonymous ADH4 1 83148 1.20267E-5 41574 0 1.65868E-5
4-100062716-GC-G p.Pro80fs frameshift ADH4 3 83146 3.60811E-5 41573 0 8.28816E-6
4-100062718-C-T p.Gly79Glu missense ADH4 1 83148 1.20267E-5 41574 0 NA
4-100062721-A-G p.Ile78Thr missense ADH4 137 83164 0.00164735 41582 0 0.00347178
4-100062729-C-G p.Val75Val synonymous ADH4 1 83164 1.20244E-5 41582 0 NA
4-100062730-A-G p.Val75Ala missense ADH4 2 83168 2.40477E-5 41584 0 NA
4-100062736-C-T p.Gly73Asp missense ADH4 1 83178 1.20224E-5 41589 0 NA
4-100062737-CTGCAGCCTCA-C p.His69fs frameshift ADH4 1 83182 1.20218E-5 41591 0 1.5919E-5
4-100062739-G-GCAGCC p.Ala72fs frameshift ADH4 1 83184 1.20215E-5 41592 0 NA
4-100062746-C-T p.Glu70Lys missense ADH4 1 83198 1.20195E-5 41599 0 6.3678E-5
4-100062748-T-C p.His69Arg missense ADH4 2 83198 2.4039E-5 41599 0 4.12589E-5
4-100062749-G-A p.His69Tyr missense ADH4 1 83198 1.20195E-5 41599 0 3.18451E-5
4-100062754-A-G p.Val67Ala missense ADH4 1 83202 1.20189E-5 41601 0 1.65003E-5
4-100062755-C-T p.Val67Ile missense ADH4 1 83200 1.20192E-5 41600 0 3.1841E-5
4-100062756-G-A p.Ile66Ile synonymous ADH4 1 83204 1.20187E-5 41602 0 5.77548E-5
4-100062757-A-G p.Ile66Thr missense ADH4 1 83204 1.20187E-5 41602 0 NA
4-100062763-G-C p.Pro64Arg missense ADH4 1 83218 1.20166E-5 41609 0 NA
4-100062770-C-G p.Ala62Pro missense ADH4 1 83222 1.20161E-5 41611 0 6.25E-4
4-100062791-C-T p.Asp55Asn missense ADH4 1 83218 1.20166E-5 41609 0 3.97905E-6
4-100062797-C-T p.Val53Ile missense ADH4 1 83204 1.20187E-5 41602 0 NA
4-100062802-G-T p.Ala51Asp missense ADH4 1 83174 1.2023E-5 41587 0 NA
4-100062814-C-T p.Cys47Tyr missense ADH4 60 83196 7.21188E-4 41598 0 0.00201613
4-100062819-A-G p.Ser45Ser synonymous ADH4 79935 82508 0.968815 41254 38752 0.989375
4-100062826-G-A p.Ala43Val missense ADH4 2 83180 2.40442E-5 41590 0 3.59284E-5
4-100062827-C-T p.Ala43Thr missense ADH4 1 83178 1.20224E-5 41589 0 NA
4-100062840-G-C c.121-7C>G splice_region ADH4 1 83152 1.20262E-5 41576 0 4.0015E-6
4-100062840-G-A c.121-7C>T splice_region ADH4 2 83152 2.40523E-5 41576 0 1.65975E-5
4-100063834-A-C p.Ile39Ser missense ADH4 4 79808 5.01203E-5 39904 0 4.50653E-6
4-100063837-C-T p.Arg38His missense ADH4 2 79832 2.50526E-5 39916 0 1.74517E-5
4-100063838-G-A p.Arg38Cys missense ADH4 1 79926 1.25116E-5 39963 0 3.13468E-5
4-100063842-T-C p.Glu36Glu synonymous ADH4 2 80478 2.48515E-5 40239 0 6.09093E-5
4-100063846-T-G p.His35Pro missense ADH4 2 80702 2.47825E-5 40351 0 9.42378E-5
4-100063853-T-C p.Lys33Glu missense ADH4 43 81182 5.29674E-4 40591 0 6.37918E-4
4-100063853-T-TG p.Lys33fs frameshift ADH4 2 81184 2.46354E-5 40592 0 3.18959E-5
4-100063854-G-C p.Pro32Pro synonymous ADH4 31 81208 3.81736E-4 40604 0 9.24568E-4
4-100063855-G-T p.Pro32His missense ADH4 7 81214 8.6192E-5 40607 0 1.0759E-4
4-100063855-G-A p.Pro32Leu missense ADH4 18 81214 2.21637E-4 40607 0 0.0010101
4-100063855-G-C p.Pro32Arg missense ADH4 7 81214 8.6192E-5 40607 0 8.48997E-5
4-100063856-G-A p.Pro32Ser missense ADH4 2 81236 2.46196E-5 40618 0 NA
4-100063856-G-C p.Pro32Ala missense ADH4 2 81236 2.46196E-5 40618 0 1.65169E-5
4-100063862-C-T p.Ala30Thr missense ADH4 1 81406 1.22841E-5 40703 0 NA
4-100063868-C-T p.Glu28Lys missense ADH4 3 81600 3.67647E-5 40800 0 1.22732E-4
4-100063878-A-G p.Ile24Ile synonymous ADH4 1 81592 1.22561E-5 40796 0 NA
4-100063889-G-C p.Pro21Ala missense ADH4 44 81532 5.39665E-4 40766 0 6.37227E-4
4-100063889-G-A p.Pro21Ser missense ADH4 2 81534 2.45296E-5 40767 0 4.48698E-5
4-100063893-G-T p.Gly19Gly synonymous ADH4 1 81406 1.22841E-5 40703 0 8.49459E-6
4-100063907-C-T p.Ala15Thr missense ADH4 2 80928 2.47133E-5 40464 0 4.12239E-6
4-100063914-T-G p.Ala12Ala synonymous ADH4 1 80864 1.23664E-5 40432 0 NA
4-100063915-G-A p.Ala12Val missense ADH4 3 80764 3.71453E-5 40382 0 1.07483E-4
4-100063925-T-C p.Lys9Glu missense ADH4 10 80336 1.24477E-4 40168 0 3.74056E-5
4-100063927-A-T p.Tyr36* stop_gained ADH4 1 80290 1.24549E-5 40145 0 NA
4-100063931-C-T p.Val7Ile missense+splice_region ADH4 1 80148 1.24769E-5 40074 0 3.18918E-5
4-100063931-C-A p.Val7Phe missense+splice_region ADH4 1 80148 1.24769E-5 40074 0 NA
4-100063931-C-G p.Val7Leu missense+splice_region ADH4 1 80148 1.24769E-5 40074 0 4.24207E-6
4-100064225-A-G c.76-3T>C splice_region ADH4 2 15716 1.27259E-4 7858 0 3.14184E-5
4-100064314-TA-AT c.75+2_75+3delTAinsAT splice_donor ADH4 1 16444 6.08125E-5 8222 0 NA
4-100064326-A-T p.Tyr22* stop_gained ADH4 4420 16392 0.269644 8196 642 0.215162
4-100064368-G-C p.Phe8Leu missense ADH4 688 16546 0.041581 8273 33 0.122119
4-100064368-G-A p.Phe8Phe synonymous ADH4 1 16570 6.035E-5 8285 0 7.79277E-6
4-100064380-T-TC p.Gly5fs frameshift ADH4 1 16554 6.04084E-5 8277 0 NA
4-100064382-G-A p.Arg4* stop_gained ADH4 1 16542 6.04522E-5 8271 0 1.91278E-4
4-100064388-G-A p.Leu2Phe missense ADH4 1 16542 6.04522E-5 8271 0 NA
4-100064437-C-T c.-43-3G>A splice_region ADH4 8 16252 4.92247E-4 8126 1 0.00223714
4-100064536-G-A c.-139-6C>T splice_region ADH4 2 10558 1.8943E-4 5279 0 1.59347E-4
4-100064537-G-C c.-139-7C>G splice_region ADH4 1 10298 9.71062E-5 5149 0 3.18654E-5
4-100065344-T-C c.-66+4A>G splice_region ADH4 1 82936 1.20575E-5 41468 0 NA
4-100065363-T-A p.Lys4Met missense ADH4 2 83016 2.40917E-5 41508 0 NA
4-100065447-G-A c.-74C>T 5_prime_UTR_premature_start_codon_gain ADH4 2 81956 2.44033E-5 40978 0 NA