Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
3-42892803-A-G c.-181A>G 5_prime_UTR_premature_start_codon_gain ACKR2 1 24200 4.13223E-5 12100 0 3.18674E-5
3-42892868-C-A c.-116C>A 5_prime_UTR_premature_start_codon_gain ACKR2 1 24258 4.12235E-5 12129 0 NA
3-42892893-C-T c.-91C>T 5_prime_UTR_premature_start_codon_gain ACKR2 2 24262 8.24334E-5 12131 0 6.37511E-5
3-42892945-C-T c.-39C>T 5_prime_UTR_premature_start_codon_gain ACKR2 1 24248 4.12405E-5 12124 0 NA
3-42892946-G-A n.529G>A splice_region ACKR2 1 24250 4.12371E-5 12125 0 NA
3-42905950-C-T c.-37-8C>T splice_region ACKR2 1 82018 1.21924E-5 41009 0 6.28931E-4
3-42905951-C-T c.-37-7C>T splice_region ACKR2 39 82068 4.75216E-4 41034 0 2.22944E-4
3-42905953-C-T c.-37-5C>T splice_region ACKR2 2 82136 2.43499E-5 41068 0 2.71847E-5
3-42905954-G-A c.-37-4G>A splice_region ACKR2 1 82156 1.2172E-5 41078 0 2.26466E-4
3-42905958-C-G c.-37C>G splice_region ACKR2 1 82348 1.21436E-5 41174 0 NA
3-42905971-C-T c.-24C>T 5_prime_UTR_premature_start_codon_gain ACKR2 15 82740 1.81291E-4 41370 1 3.8219E-4
3-42906001-G-A p.Ala3Thr missense ACKR2 3 83134 3.60863E-5 41567 0 8.84502E-6
3-42906006-T-C p.Thr4Thr synonymous ACKR2 1 83196 1.20198E-5 41598 0 1.58111E-4
3-42906009-C-T p.Ala5Ala synonymous ACKR2 1 83206 1.20184E-5 41603 0 8.20022E-6
3-42906009-C-G p.Ala5Ala synonymous ACKR2 1 83206 1.20184E-5 41603 0 4.3769E-5
3-42906016-C-T p.Gln8* stop_gained ACKR2 1 83218 1.20166E-5 41609 0 NA
3-42906021-A-G p.Pro9Pro synonymous ACKR2 2 83252 2.40234E-5 41626 0 NA
3-42906021-A-T p.Pro9Pro synonymous ACKR2 1 83252 1.20117E-5 41626 0 4.29598E-5
3-42906038-C-A p.Ala15Asp missense ACKR2 2 83278 2.40159E-5 41639 0 3.99412E-6
3-42906040-G-A p.Asp16Asn missense ACKR2 3 83288 3.60196E-5 41644 0 3.18492E-5
3-42906051-T-C p.Asn19Asn synonymous ACKR2 2 83334 2.39998E-5 41667 0 3.9834E-6
3-42906068-A-G p.Tyr25Cys missense ACKR2 2 83342 2.39975E-5 41671 0 NA
3-42906089-C-G p.Ala32Gly missense ACKR2 2 83370 2.39894E-5 41685 0 3.29582E-5
3-42906105-G-C p.Arg37Ser missense ACKR2 1 83392 1.19916E-5 41696 0 2.47137E-5
3-42906116-T-C p.Val41Ala missense ACKR2 4741 83312 0.0569066 41656 152 0.0553877
3-42906116-TG-CA p.Val41Ala missense ACKR2 2 83396 2.3982E-5 41698 0 NA
3-42906120-G-A p.Val42Val synonymous ACKR2 1 83400 1.19904E-5 41700 0 NA
3-42906122-C-T p.Ser43Phe missense ACKR2 1 83400 1.19904E-5 41700 0 NA
3-42906141-C-G p.Leu49Leu synonymous ACKR2 3 83406 3.59686E-5 41703 0 3.18552E-5
3-42906144-A-G p.Pro50Pro synonymous ACKR2 1 83406 1.19895E-5 41703 0 NA
3-42906151-T-C p.Tyr53His missense ACKR2 1 83396 1.1991E-5 41698 0 NA
3-42906152-A-G p.Tyr53Cys missense ACKR2 3 83392 3.59747E-5 41696 0 3.97655E-6
3-42906156-C-G p.Ser54Arg missense ACKR2 1 83392 1.19916E-5 41696 0 8.23723E-6
3-42906175-C-T p.Leu61Phe missense ACKR2 5 83386 5.99621E-5 41693 0 1.64739E-5
3-42906181-G-C p.Gly63Arg missense ACKR2 1 83370 1.19947E-5 41685 0 NA
3-42906181-G-A p.Gly63Arg missense ACKR2 1 83370 1.19947E-5 41685 0 2.47113E-5
3-42906214-T-TA p.Tyr74fs frameshift ACKR2 4 83346 4.79927E-5 41673 0 3.18613E-5
3-42906216-C-T p.Tyr74Tyr synonymous ACKR2 1631 83322 0.0195747 41661 25 0.0217621
3-42906221-C-T p.Pro76Leu missense ACKR2 3 83354 3.59911E-5 41677 0 3.18552E-5
3-42906224-G-A p.Arg77His missense ACKR2 3 83346 3.59945E-5 41673 0 1.19325E-5
3-42906234-G-A p.Met80Ile missense ACKR2 1 83352 1.19973E-5 41676 0 6.25E-4
3-42906244-T-C p.Tyr84His missense ACKR2 1 83360 1.19962E-5 41680 0 3.18451E-5
3-42906245-A-G p.Tyr84Cys missense ACKR2 1 83364 1.19956E-5 41682 0 2.47093E-5
3-42906252-G-C p.Leu86Leu synonymous ACKR2 3 83366 3.59859E-5 41683 0 3.1839E-5
3-42906255-T-A p.Asn87Lys missense ACKR2 8 83366 9.59624E-5 41683 0 5.03525E-4
3-42906259-G-T p.Ala89Ser missense ACKR2 1 83368 1.1995E-5 41684 0 NA
3-42906261-C-T p.Ala89Ala synonymous ACKR2 22 83368 2.6389E-4 41684 0 2.22698E-4
3-42906269-A-G p.Asn92Ser missense ACKR2 1 83372 1.19944E-5 41686 0 8.23642E-6
3-42906271-C-A p.Leu93Ile missense ACKR2 1 83382 1.1993E-5 41691 0 1.89438E-4
3-42906276-G-A p.Leu94Leu synonymous ACKR2 4 83380 4.79731E-5 41690 0 NA
3-42906287-C-T p.Thr98Ile missense ACKR2 1 83390 1.19918E-5 41695 0 NA
3-42906310-G-A p.Val106Met missense ACKR2 2 83396 2.3982E-5 41698 0 3.97659E-6
3-42906321-T-C p.His109His synonymous ACKR2 2 83396 2.3982E-5 41698 0 8.2371E-6
3-42906325-G-A p.Val111Ile missense ACKR2 1 83400 1.19904E-5 41700 0 NA
3-42906330-C-T p.Phe112Phe synonymous ACKR2 2 83398 2.39814E-5 41699 0 1.59074E-5
3-42906331-G-A p.Gly113Arg missense ACKR2 1 83398 1.19907E-5 41699 0 1.64742E-5
3-42906338-T-C p.Phe115Ser missense ACKR2 4 83404 4.79593E-5 41702 0 3.97659E-5
3-42906365-A-C p.Tyr124Ser missense ACKR2 3 83384 3.59781E-5 41692 0 1.59469E-4
3-42906378-T-C p.Phe128Phe synonymous ACKR2 2 83350 2.39952E-5 41675 0 2.38626E-5
3-42906386-G-A p.Gly131Asp missense ACKR2 5 83322 6.00082E-5 41661 0 1.91119E-4
3-42906400-A-G p.Ser136Gly missense ACKR2 9 83248 1.08111E-4 41624 0 8.239E-6
3-42906401-G-A p.Ser136Asn missense ACKR2 1 83238 1.20137E-5 41619 0 3.18776E-5
3-42906414-G-A p.Leu140Leu synonymous ACKR2 7 83112 8.42237E-5 41556 0 2.8677E-4
3-42906417-C-T p.Asp141Asp synonymous ACKR2 1 83086 1.20357E-5 41543 0 NA
3-42906418-A-T p.Lys142* stop_gained ACKR2 2 83084 2.4072E-5 41542 0 3.18654E-5
3-42906424-C-T p.Leu144Leu synonymous ACKR2 1 83044 1.20418E-5 41522 0 NA
3-42906429-G-A p.Glu145Glu synonymous ACKR2 4 82982 4.82032E-5 41491 0 1.99084E-4
3-42906433-G-A p.Val147Ile missense ACKR2 1 82902 1.20624E-5 41451 0 1.64853E-5
3-42906436-C-G p.His148Asp missense ACKR2 1 82888 1.20645E-5 41444 0 NA
3-42906440-C-G p.Ala149Gly missense ACKR2 1 82826 1.20735E-5 41413 0 3.98368E-6
3-42906440-C-T p.Ala149Val missense ACKR2 2 82826 2.4147E-5 41413 0 3.98368E-6
3-42906441-T-A p.Ala149Ala synonymous ACKR2 2 82818 2.41493E-5 41409 0 3.18492E-5
3-42906445-C-A p.Pro151Thr missense ACKR2 1 82788 1.2079E-5 41394 0 NA
3-42906450-C-T p.Tyr152Tyr synonymous ACKR2 23 82726 2.78026E-4 41363 0 9.15283E-4
3-42906459-G-A p.Leu155Leu synonymous ACKR2 11 82612 1.33153E-4 41306 1 5.03525E-4
3-42906465-C-G p.Thr157Thr synonymous ACKR2 2 82522 2.4236E-5 41261 0 NA
3-42906466-C-T p.Arg158Trp missense ACKR2 1 82484 1.21236E-5 41242 0 5.03525E-4
3-42906467-G-A p.Arg158Gln missense ACKR2 2 82480 2.42483E-5 41240 0 6.25E-4
3-42906478-C-T p.Leu162Leu synonymous ACKR2 1 82356 1.21424E-5 41178 0 8.24769E-6
3-42906488-C-G p.Ala165Gly missense ACKR2 1 82260 1.21566E-5 41130 0 NA
3-42906494-T-C p.Ile167Thr missense ACKR2 1 82286 1.21527E-5 41143 0 3.18532E-5
3-42906509-C-G p.Ser172Cys missense ACKR2 96 82232 0.00116743 41116 1 0.00100705
3-42906521-C-G p.Ser176Cys missense ACKR2 9 82314 1.09337E-4 41157 0 6.37146E-5
3-42906523-A-G p.Ile177Val missense ACKR2 1 82342 1.21445E-5 41171 0 1.59505E-5
3-42906525-C-T p.Ile177Ile synonymous ACKR2 22 82362 2.67113E-4 41181 0 1.91168E-4
3-42906537-C-G p.Val181Val synonymous ACKR2 1 82500 1.21212E-5 41250 0 1.64913E-5
3-42906537-C-T p.Val181Val synonymous ACKR2 9 82500 1.09091E-4 41250 0 9.56023E-5
3-42906563-A-G p.Lys190Arg missense ACKR2 2 82682 2.41891E-5 41341 0 3.18695E-5
3-42906568-G-A p.Val192Met missense ACKR2 1 82702 1.20916E-5 41351 0 3.98489E-6
3-42906576-C-A p.Asn194Lys missense ACKR2 1 82724 1.20884E-5 41362 0 NA
3-42906591-C-T p.Phe199Phe synonymous ACKR2 1 82748 1.20849E-5 41374 0 NA
3-42906594-C-T p.Gly200Gly synonymous ACKR2 3 82726 3.62643E-5 41363 0 1.27453E-4
3-42906595-G-T p.Gly201Trp missense ACKR2 1 82746 1.20852E-5 41373 0 1.64924E-5
3-42906595-G-A p.Gly201Arg missense ACKR2 10 82746 1.20852E-4 41373 0 5.03525E-4
3-42906596-G-A p.Gly201Glu missense ACKR2 6 82732 7.25233E-5 41366 0 3.18613E-5
3-42906598-C-T p.His202Tyr missense ACKR2 1 82680 1.20948E-5 41340 0 4.12392E-5
3-42906600-T-C p.His202His synonymous ACKR2 600 82704 0.00725479 41352 21 0.0119986
3-42906620-T-A p.Phe209Tyr missense ACKR2 1 82696 1.20925E-5 41348 0 8.24511E-6
3-42906626-G-A p.Arg211His missense ACKR2 1 82684 1.20942E-5 41342 0 NA
3-42906629-T-C p.Phe212Ser missense ACKR2 50 82714 6.04493E-4 41357 0 0.00151057
3-42906630-C-T p.Phe212Phe synonymous ACKR2 1 82726 1.20881E-5 41363 0 NA
3-42906637-A-T p.Asn215Tyr missense ACKR2 3 82778 3.62415E-5 41389 0 6.37836E-5
3-42906639-C-A p.Asn215Lys missense ACKR2 1 82786 1.20793E-5 41393 0 NA
3-42906641-T-C p.Leu216Pro missense ACKR2 1 82816 1.2075E-5 41408 0 3.18634E-5
3-42906643-C-T p.Leu217Leu synonymous ACKR2 1 82812 1.20755E-5 41406 0 8.24321E-6
3-42906647-G-C p.Gly218Ala missense ACKR2 406 82838 0.00490113 41419 7 0.00357231
3-42906648-G-A p.Gly218Gly synonymous ACKR2 2 82848 2.41406E-5 41424 0 NA
3-42906653-T-G p.Leu220Arg missense ACKR2 1 82858 1.20688E-5 41429 0 6.37146E-5
3-42906660-A-G p.Pro222Pro synonymous ACKR2 3 82912 3.61829E-5 41456 0 3.98099E-6
3-42906661-C-G p.Leu223Val missense ACKR2 3 82938 3.61716E-5 41469 0 1.59256E-4
3-42906670-A-G p.Met226Val missense ACKR2 1 83028 1.20441E-5 41514 0 1.64788E-5
3-42906673-ATCT-A p.Phe229del disruptive_inframe_deletion ACKR2 9 83060 1.08355E-4 41530 0 6.38121E-5
3-42906682-T-C p.Tyr230His missense ACKR2 1 83088 1.20354E-5 41544 0 8.23845E-6
3-42906686-C-T p.Ser231Phe missense ACKR2 1 83090 1.20351E-5 41545 0 9.88566E-5
3-42906688-C-T p.Arg232Cys missense ACKR2 1 83104 1.20331E-5 41552 0 NA
3-42906692-T-C p.Ile233Thr missense+splice_region ACKR2 8 83148 9.6214E-5 41574 0 1.23571E-4
3-42906699-T-C p.Cys235Cys synonymous ACKR2 41 83184 4.92883E-4 41592 1 8.91833E-4
3-42906719-C-T p.Pro242Leu missense ACKR2 1 83254 1.20114E-5 41627 0 NA
3-42906720-C-T p.Pro242Pro synonymous ACKR2 1 83262 1.20103E-5 41631 0 7.95608E-6
3-42906736-G-A p.Ala248Thr missense ACKR2 3 83320 3.60058E-5 41660 0 1.64747E-5
3-42906746-T-C p.Ile251Thr missense ACKR2 2 83344 2.39969E-5 41672 0 4.94226E-5
3-42906755-C-A p.Ala254Asp missense ACKR2 1 83354 1.1997E-5 41677 0 3.18451E-5
3-42906758-T-TGA p.Val256fs frameshift ACKR2 2 83348 2.39958E-5 41674 0 NA
3-42906763-G-A p.Val257Met missense ACKR2 1 83352 1.19973E-5 41676 0 1.64739E-5
3-42906771-C-T p.Phe259Phe synonymous ACKR2 4 83364 4.79823E-5 41682 0 3.29473E-5
3-42906772-T-C p.Phe260Leu missense ACKR2 1 83362 1.19959E-5 41681 0 1.64734E-5
3-42906794-A-G p.Asn267Ser missense ACKR2 3 83380 3.59799E-5 41690 0 4.94185E-5
3-42906811-C-T p.His273Tyr missense ACKR2 1 83380 1.19933E-5 41690 0 3.18451E-5
3-42906812-A-C p.His273Pro missense ACKR2 5 83378 5.99679E-5 41689 0 0.001875
3-42906816-G-C p.Thr274Thr synonymous ACKR2 3 83372 3.59833E-5 41686 0 NA
3-42906834-A-G p.Val280Val synonymous ACKR2 1 83358 1.19964E-5 41679 0 7.95311E-6
3-42906836-T-G p.Phe281Cys missense ACKR2 1 83350 1.19976E-5 41675 0 NA
3-42906845-G-A p.Cys284Tyr missense ACKR2 1 83336 1.19996E-5 41668 0 1.98829E-5
3-42906852-C-G p.Val286Val synonymous ACKR2 10 83334 1.19999E-4 41667 0 9.06021E-5
3-42906853-A-G p.Ser287Gly missense ACKR2 1 83336 1.19996E-5 41668 0 NA
3-42906864-A-G p.Leu290Leu synonymous ACKR2 82 83304 9.84346E-4 41652 0 6.05404E-4
3-42906865-G-A p.Asp291Asn missense ACKR2 1 83292 1.2006E-5 41646 0 NA
3-42906867-C-T p.Asp291Asp synonymous ACKR2 2 83290 2.40125E-5 41645 0 6.36943E-5
3-42906870-C-T p.Tyr292Tyr synonymous ACKR2 1 83274 1.20085E-5 41637 0 3.97693E-6
3-42906871-G-A p.Ala293Thr missense ACKR2 18 83270 2.16164E-4 41635 1 4.14145E-4
3-42906874-C-T p.Leu294Phe missense ACKR2 1 83260 1.20106E-5 41630 0 NA
3-42906879-G-A p.Gln295Gln synonymous ACKR2 2 83248 2.40246E-5 41624 0 6.37105E-5
3-42906879-G-C p.Gln295His missense ACKR2 1 83248 1.20123E-5 41624 0 NA
3-42906883-A-T p.Thr297Ser missense ACKR2 1 83246 1.20126E-5 41623 0 3.18613E-5
3-42906884-CAG-C p.Ser299fs frameshift ACKR2 29 83252 3.4834E-4 41626 0 3.38093E-4
3-42906894-C-T p.Ile300Ile synonymous ACKR2 10 83170 1.20236E-4 41585 0 3.18492E-5
3-42906917-C-G p.Ser308Cys missense ACKR2 1 83010 1.20467E-5 41505 0 NA
3-42906918-C-G p.Ser308Ser synonymous ACKR2 6 83014 7.2277E-5 41507 0 6.36943E-5
3-42906919-C-G p.Pro309Ala missense ACKR2 3 82998 3.61454E-5 41499 0 5.03525E-4
3-42906925-C-G p.Leu311Val missense ACKR2 154 82952 0.0018565 41476 0 0.00436195
3-42906925-C-T p.Leu311Leu synonymous ACKR2 4 82956 4.82183E-5 41478 0 NA
3-42906941-GTC-TTT p.SerHis316IleTyr missense ACKR2 53 82784 6.4022E-4 41392 0 NA
3-42906941-G-T p.Ser316Ile missense ACKR2 2 82784 2.41593E-5 41392 0 0.00100705
3-42906943-C-T p.His317Tyr missense ACKR2 3 82760 3.62494E-5 41380 0 0.00100705
3-42906946-C-T p.Arg318Cys missense ACKR2 1 82710 1.20904E-5 41355 0 4.9434E-5
3-42906949-T-G p.Phe319Val missense ACKR2 1 82656 1.20983E-5 41328 0 1.99229E-5
3-42906953-G-A p.Arg320His missense ACKR2 238 82574 0.00288226 41287 1 0.00662631
3-42906955-C-T p.Gln321* stop_gained ACKR2 2 82612 2.42096E-5 41306 0 NA
3-42906969-T-G p.Ala325Ala synonymous ACKR2 1 82490 1.21227E-5 41245 0 NA
3-42906981-C-T p.Ala329Ala synonymous ACKR2 1 82436 1.21306E-5 41218 0 3.98632E-6
3-42906990-ATGGCACC-A p.Pro337fs frameshift ACKR2 82 82468 9.94325E-4 41234 0 0.00188018
3-42906990-A-ATGGCACC p.Ala340fs frameshift ACKR2 2 82470 2.42512E-5 41235 0 3.18674E-5
3-42906996-C-T p.His334His synonymous ACKR2 1 82470 1.21256E-5 41235 0 3.18532E-5
3-42907014-C-T p.Ala340Ala synonymous ACKR2 1 82560 1.21124E-5 41280 0 NA
3-42907015-C-G p.Gln341Glu missense ACKR2 1 82600 1.21065E-5 41300 0 NA
3-42907015-C-T p.Gln341* stop_gained ACKR2 1 82600 1.21065E-5 41300 0 6.37105E-5
3-42907016-A-G p.Gln341Arg missense ACKR2 1 82606 1.21057E-5 41303 0 8.23873E-6
3-42907041-G-T p.Glu349Asp missense ACKR2 1 82846 1.20706E-5 41423 0 NA
3-42907055-C-T p.Thr354Ile missense ACKR2 1 82972 1.20523E-5 41486 0 NA
3-42907062-A-G p.Gln356Gln synonymous ACKR2 1 83064 1.20389E-5 41532 0 NA
3-42907076-G-T p.Gly361Val missense ACKR2 14 83140 1.68391E-4 41570 0 1.59195E-4
3-42907090-G-A p.Gly366Arg missense ACKR2 1 83198 1.20195E-5 41599 0 NA
3-42907093-G-A p.Glu367Lys missense ACKR2 1 83200 1.20192E-5 41600 0 6.36902E-5
3-42907112-A-C p.Tyr373Ser missense ACKR2 30941 81558 0.379374 40779 6004 0.433756
3-42907112-A-T p.Tyr373Phe missense ACKR2 576 83174 0.00692524 41587 6 0.0214944
3-42907120-A-G p.Lys376Glu missense ACKR2 3 83248 3.60369E-5 41624 0 1.20229E-5
3-42907144-G-A p.Ala384Thr missense ACKR2 1 83216 1.20169E-5 41608 0 NA
3-42908772-A-G c.*1623A>G splice_region ACKR2 1 41862 2.3888E-5 20931 0 NA
3-42908775-A-C c.*1626A>C splice_region ACKR2 16015 41510 0.385811 20755 3287 0.35268
3-42929021-AT-A n.472-8delT splice_region ACKR2 1 44368 2.25388E-5 22184 0 NA
3-42929027-C-T n.472-3C>T splice_region ACKR2 216 44368 0.00486837 22184 0 0.00729532
3-42929031-C-T n.473C>T splice_region ACKR2 3 44372 6.76102E-5 22186 0 NA
3-42929032-G-A n.474G>A splice_region ACKR2 1 44372 2.25367E-5 22186 0 NA
3-42929032-G-C n.474G>C splice_region ACKR2 1 44372 2.25367E-5 22186 0 NA