Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
18-56149069-C-T p.Glu2167Lys missense ALPK2 1 83254 1.20114E-5 41627 0 4.37828E-5
18-56149070-G-T p.Gly2166Gly synonymous ALPK2 4 83244 4.80515E-5 41622 0 4.11936E-5
18-56149081-C-G p.Glu2163Gln missense ALPK2 4 83256 4.80446E-5 41628 0 4.77555E-5
18-56149082-A-G p.Pro2162Pro synonymous ALPK2 5 83250 6.00601E-5 41625 0 5.76673E-5
18-56149085-C-T p.Gly2161Gly synonymous ALPK2 1 83242 1.20132E-5 41621 0 4.94283E-5
18-56149094-C-G p.Lys2158Asn missense ALPK2 2 83246 2.40252E-5 41623 0 9.55231E-5
18-56149097-T-G p.Ile2157Ile synonymous ALPK2 1 83244 1.20129E-5 41622 0 NA
18-56149098-ATTGTCATAGAGT-A p.Asn2153_Thr2156del disruptive_inframe_deletion ALPK2 1 83238 1.20137E-5 41619 0 3.18552E-5
18-56149099-T-C p.Ile2157Val missense ALPK2 68428 82456 0.829873 41228 28510 0.868265
18-56149099-TT-CC p.ThrIle2156ThrVal missense ALPK2 1 83242 1.20132E-5 41621 0 NA
18-56149100-T-C p.Thr2156Thr synonymous ALPK2 40 83238 4.8055E-4 41619 0 0.003125
18-56149101-G-A p.Thr2156Ile missense ALPK2 3 83236 3.60421E-5 41618 0 1.11474E-4
18-56149104-A-G p.Met2155Thr missense ALPK2 1 83240 1.20135E-5 41620 0 3.98076E-6
18-56149104-ATAGAGT-A p.Asn2153_Ser2154del disruptive_inframe_deletion ALPK2 2 83240 2.40269E-5 41620 0 NA
18-56149105-T-C p.Met2155Val missense ALPK2 5 83242 6.00658E-5 41621 0 6.36983E-5
18-56149107-G-C p.Ser2154Cys missense ALPK2 1 83236 1.2014E-5 41618 0 NA
18-56149109-G-A p.Asn2153Asn synonymous ALPK2 226 83232 0.0027153 41616 0 0.00614767
18-56149111-T-G p.Asn2153His missense ALPK2 1 83238 1.20137E-5 41619 0 8.2371E-6
18-56149125-C-A p.Ser2148Ile missense ALPK2 1 83228 1.20152E-5 41614 0 8.2375E-6
18-56149133-A-G p.Ile2145Ile synonymous ALPK2 4 83238 4.8055E-5 41619 0 6.37511E-5
18-56149134-A-G p.Ile2145Thr missense ALPK2 4 83236 4.80561E-5 41618 0 6.3743E-5
18-56149139-C-T p.Pro2143Pro synonymous ALPK2 4 83206 4.80735E-5 41603 0 6.36983E-5
18-56149140-G-A p.Pro2143Leu missense ALPK2 8 83204 9.61492E-5 41602 0 1.23567E-4
18-56149157-G-T p.Asn2137Lys missense ALPK2 16 83218 1.92266E-4 41609 2 6.37029E-5
18-56149157-G-A p.Asn2137Asn synonymous ALPK2 1 83218 1.20166E-5 41609 0 NA
18-56149166-T-G p.Gln2134His missense ALPK2 1 83218 1.20166E-5 41609 0 NA
18-56149182-C-A p.Gly2129Val missense ALPK2 1 83244 1.20129E-5 41622 0 3.982E-6
18-56149190-T-G p.Lys2126Asn missense ALPK2 1 83264 1.201E-5 41632 0 NA
18-56149201-T-G p.Lys2123Gln missense ALPK2 1 83268 1.20094E-5 41634 0 NA
18-56149216-G-A p.Leu2118Leu synonymous ALPK2 7 83182 8.41528E-5 41591 0 6.25E-4
18-56149220-T-C p.Lys2116Lys synonymous ALPK2 1 83124 1.20302E-5 41562 0 8.23669E-6
18-56149220-T-G p.Lys2116Asn missense ALPK2 1 83124 1.20302E-5 41562 0 NA
18-56149232-A-G p.Ile2112Ile synonymous ALPK2 1 83082 1.20363E-5 41541 0 1.19855E-5
18-56149233-A-G p.Ile2112Thr missense ALPK2 12 83074 1.4445E-4 41537 0 6.25E-4
18-56149243-TG-T p.Met2109fs frameshift ALPK2 1 83042 1.20421E-5 41521 0 NA
18-56149243-T-C p.Met2109Val missense ALPK2 1 83042 1.20421E-5 41521 0 2.00002E-5
18-56149245-G-A p.Ser2108Phe missense ALPK2 2 82998 2.4097E-5 41499 0 1.59195E-4
18-56149251-T-C p.Asn2106Ser missense ALPK2 1 82954 1.20549E-5 41477 0 NA
18-56149265-C-T p.Lys2101Lys synonymous ALPK2 2 82782 2.41598E-5 41391 0 1.20273E-5
18-56149277-A-C c.6297-6T>G splice_region ALPK2 1 82764 1.20825E-5 41382 0 NA
18-56149278-GTT-G c.6297-9_6297-8delAA splice_region ALPK2 227 82766 0.00274267 41383 0 0.0059907
18-56165291-G-A p.Leu2096Leu synonymous ALPK2 3 83088 3.61063E-5 41544 0 5.04541E-4
18-56165292-C-T p.Thr2095Thr synonymous ALPK2 1 83088 1.20354E-5 41544 0 8.2375E-6
18-56165293-G-A p.Thr2095Met missense ALPK2 2 83102 2.40668E-5 41551 0 1.59132E-5
18-56165294-T-C p.Thr2095Ala missense ALPK2 8 83114 9.62533E-5 41557 0 1.91083E-4
18-56165299-A-G p.Ile2093Thr missense ALPK2 1 83106 1.20328E-5 41553 0 NA
18-56165305-A-T p.Val2091Asp missense ALPK2 1 83122 1.20305E-5 41561 0 3.18532E-5
18-56165307-G-A p.Asp2090Asp synonymous ALPK2 1 83106 1.20328E-5 41553 0 6.25E-4
18-56165315-G-A p.Leu2088Leu synonymous ALPK2 2 83084 2.4072E-5 41542 0 NA
18-56165333-C-T c.6248-4G>A splice_region ALPK2 1 82986 1.20502E-5 41493 0 3.97804E-6
18-56171167-C-T p.Met2081Ile missense ALPK2 2 83190 2.40414E-5 41595 0 NA
18-56171168-A-G p.Met2081Thr missense ALPK2 1 83192 1.20204E-5 41596 0 8.45366E-6
18-56171173-C-T p.Thr2079Thr synonymous ALPK2 4 83232 4.80584E-5 41616 0 7.58531E-5
18-56171174-G-A p.Thr2079Met missense ALPK2 5 83240 6.00673E-5 41620 0 1.59588E-5
18-56171201-T-C p.Gln2070Arg missense ALPK2 1 83314 1.20028E-5 41657 0 NA
18-56171213-T-C p.His2066Arg missense ALPK2 1 83338 1.19993E-5 41669 0 8.24552E-6
18-56171221-G-A p.Thr2063Thr synonymous ALPK2 1 83330 1.20005E-5 41665 0 NA
18-56171225-C-A p.Cys2062Phe missense ALPK2 3 83330 3.60014E-5 41665 0 2.78394E-5
18-56171237-C-A p.Gly2058Val missense ALPK2 1 83324 1.20013E-5 41662 0 NA
18-56171238-C-A p.Gly2058Cys missense ALPK2 3 83326 3.60032E-5 41663 0 0.003125
18-56171242-T-C p.Glu2056Glu synonymous ALPK2 37 83310 4.44124E-4 41655 1 0.004375
18-56171253-T-G p.Arg2053Arg synonymous ALPK2 2 83314 2.40056E-5 41657 0 1.64813E-5
18-56171255-C-T p.Arg2052Lys missense ALPK2 1 83314 1.20028E-5 41657 0 NA
18-56171257-C-G p.Leu2051Phe missense ALPK2 1 83304 1.20042E-5 41652 0 NA
18-56171262-A-C p.Phe2050Val missense ALPK2 1 83298 1.20051E-5 41649 0 3.97731E-6
18-56171267-A-C p.Ile2048Arg missense ALPK2 2 83296 2.40108E-5 41648 0 0.004375
18-56171271-C-T p.Glu2047Lys missense ALPK2 3 83294 3.6017E-5 41647 0 1.64853E-5
18-56171277-C-T p.Gly2045Arg missense ALPK2 2 83274 2.40171E-5 41637 0 3.97791E-6
18-56171283-T-G p.Arg2043Arg synonymous ALPK2 2 83260 2.40211E-5 41630 0 NA
18-56171283-T-A p.Arg2043Trp missense ALPK2 1 83260 1.20106E-5 41630 0 NA
18-56171299-A-C p.Phe2037Leu missense ALPK2 3 83226 3.60464E-5 41613 0 1.65019E-5
18-56171304-C-T p.Glu2036Lys missense ALPK2 1 83224 1.20158E-5 41612 0 NA
18-56171319-C-T p.Glu2031Lys missense ALPK2 1 83120 1.20308E-5 41560 0 1.98999E-5
18-56171321-T-C p.Glu2030Gly missense ALPK2 1 83112 1.2032E-5 41556 0 NA
18-56171328-T-C p.Thr2028Ala missense ALPK2 1 83060 1.20395E-5 41530 0 8.26569E-6
18-56171335-C-T p.Pro2025Pro synonymous ALPK2 5 83016 6.02294E-5 41508 0 4.13503E-5
18-56171336-G-A p.Pro2025Leu missense ALPK2 2 82984 2.4101E-5 41492 0 3.98197E-6
18-56171339-A-G p.Ile2024Thr missense ALPK2 3 82968 3.61585E-5 41484 0 7.96286E-6
18-56171345-T-C p.Asn2022Ser missense ALPK2 3 82920 3.61795E-5 41460 0 6.37024E-5
18-56171354-C-T p.Arg2019Gln missense ALPK2 1 82756 1.20837E-5 41378 0 7.97264E-6
18-56171355-G-A p.Arg2019Trp missense ALPK2 3 82722 3.6266E-5 41361 0 1.59538E-5
18-56171357-T-C p.His2018Arg missense ALPK2 1 82682 1.20945E-5 41341 0 NA
18-56171383-G-C c.6030-3C>G splice_region ALPK2 1 81630 1.22504E-5 40815 0 NA
18-56171384-G-GCAGGGAAGAGAA c.6030-5_6030-4insTTCTCTTCCCTG splice_region ALPK2 1 81516 1.22675E-5 40758 0 1.59226E-4
18-56182222-T-TA c.6029+2_6029+3insT splice_donor ALPK2 3 82046 3.65649E-5 41023 0 NA
18-56182226-C-T p.Glu2010Lys missense+splice_region ALPK2 1 82076 1.21838E-5 41038 0 NA
18-56182251-A-G p.Pro2001Pro synonymous ALPK2 2 82324 2.42943E-5 41162 0 NA
18-56182253-G-T p.Pro2001Thr missense ALPK2 4 82310 4.85968E-5 41155 0 NA
18-56182268-C-T p.Ala1996Thr missense ALPK2 2 82292 2.43037E-5 41146 0 NA
18-56182269-G-A p.Tyr1995Tyr synonymous ALPK2 2 82290 2.43043E-5 41145 0 4.79164E-5
18-56182279-G-A p.Ala1992Val missense ALPK2 1 82234 1.21604E-5 41117 0 NA
18-56182287-C-T p.Arg1989Arg synonymous ALPK2 1 82166 1.21705E-5 41083 0 3.18512E-5
18-56182312-T-A p.Glu1981Val missense+splice_region ALPK2 1 81666 1.2245E-5 40833 0 8.04124E-6
18-56182314-C-T c.5941-1G>A splice_acceptor ALPK2 1 81588 1.22567E-5 40794 0 NA
18-56182316-A-G c.5941-3T>C splice_region ALPK2 3 81502 3.68089E-5 40751 0 4.19822E-5
18-56182316-A-T c.5941-3T>A splice_region ALPK2 1 81502 1.22696E-5 40751 0 1.67929E-5
18-56182320-C-T c.5941-7G>A splice_region ALPK2 31 81308 3.81266E-4 40654 1 0.0025
18-56182321-G-A c.5941-8C>T splice_region ALPK2 3 81196 3.69476E-5 40598 0 6.74218E-5
18-56184136-C-A c.5940+4G>T splice_region ALPK2 1 83028 1.20441E-5 41514 0 NA
18-56184143-G-A p.Ala1979Ala synonymous ALPK2 1 83058 1.20398E-5 41529 0 2.47623E-5
18-56184147-G-A p.Ala1978Val missense ALPK2 7 83070 8.42663E-5 41535 0 0.0025
18-56184148-C-T p.Ala1978Thr missense ALPK2 42 83048 5.05732E-4 41524 0 7.00414E-4
18-56184149-G-A p.Leu1977Leu synonymous ALPK2 7 83052 8.42845E-5 41526 0 5.04032E-4
18-56184154-T-A p.Lys1976* stop_gained ALPK2 1 83114 1.20317E-5 41557 0 NA
18-56184160-T-C p.Asn1974Asp missense ALPK2 1 83146 1.2027E-5 41573 0 NA
18-56184161-C-A p.Arg1973Ser missense ALPK2 4 83156 4.81024E-5 41578 0 2.7858E-5
18-56184167-G-T p.Ile1971Ile synonymous ALPK2 3 83202 3.60568E-5 41601 0 5.04032E-4
18-56184191-C-T p.Gly1963Gly synonymous ALPK2 1 83254 1.20114E-5 41627 0 8.23655E-6
18-56184195-T-C p.Tyr1962Cys missense ALPK2 1 83268 1.20094E-5 41634 0 NA
18-56184198-G-A p.Ala1961Val missense ALPK2 11 83266 1.32107E-4 41633 0 7.64429E-4
18-56184205-C-T p.Ala1959Thr missense ALPK2 1 83264 1.201E-5 41632 0 6.25E-4
18-56184209-G-A p.His1957His synonymous ALPK2 1 83258 1.20109E-5 41629 0 NA
18-56184214-C-T p.Val1956Met missense ALPK2 1 83244 1.20129E-5 41622 0 NA
18-56184238-G-A p.Pro1948Ser missense ALPK2 1 83224 1.20158E-5 41612 0 8.23669E-6
18-56184246-A-G p.Val1945Ala missense ALPK2 1 83234 1.20143E-5 41617 0 NA
18-56184249-G-T p.Pro1944His missense ALPK2 7 83230 8.41043E-5 41615 0 2.38669E-5
18-56184259-C-T p.Gly1941Ser missense ALPK2 2 83214 2.40344E-5 41607 0 8.2371E-6
18-56184260-G-A p.His1940His synonymous ALPK2 2 83212 2.4035E-5 41606 0 1.19349E-5
18-56184269-T-A p.Thr1937Thr synonymous ALPK2 1 83232 1.20146E-5 41616 0 1.64739E-5
18-56184277-G-A p.Arg1935Cys missense ALPK2 3 83218 3.60499E-5 41609 0 4.37626E-5
18-56184289-G-A p.Arg1931Cys missense ALPK2 8 83184 9.61723E-5 41592 0 1.59165E-4
18-56184297-C-T p.Gly1928Glu missense ALPK2 43 83172 5.17001E-4 41586 0 6.68662E-4
18-56184300-T-C p.Glu1927Gly missense ALPK2 6 83166 7.21449E-5 41583 0 3.29495E-5
18-56184312-A-G p.Leu1923Pro missense ALPK2 1 83142 1.20276E-5 41571 0 NA
18-56184319-C-G p.Glu1921Gln missense ALPK2 1 83128 1.20296E-5 41564 0 NA
18-56184321-G-A p.Thr1920Met missense ALPK2 5 83108 6.01627E-5 41554 0 6.25E-4
18-56184321-G-GT p.Thr1920fs frameshift ALPK2 1 83108 1.20325E-5 41554 0 NA
18-56184323-G-A p.Ala1919Ala synonymous ALPK2 1 83102 1.20334E-5 41551 0 NA
18-56184325-C-T p.Ala1919Thr missense ALPK2 1 83098 1.2034E-5 41549 0 1.97742E-4
18-56184325-C-A p.Ala1919Ser missense ALPK2 3 83098 3.6102E-5 41549 0 1.1535E-4
18-56184326-G-A p.Ile1918Ile synonymous ALPK2 1 83110 1.20322E-5 41555 0 0.00125
18-56184337-G-A p.Arg1915Cys missense ALPK2 1 83074 1.20375E-5 41537 0 2.38867E-5
18-56184342-C-T p.Arg1913His missense ALPK2 4 83044 4.81672E-5 41522 0 1.99049E-5
18-56184343-G-A p.Arg1913Cys missense ALPK2 735 83002 0.00885521 41501 3 0.00818249
18-56184362-A-G p.His1906His synonymous ALPK2 2 82980 2.41022E-5 41490 0 NA
18-56184371-GTCT-G p.Glu1902del disruptive_inframe_deletion ALPK2 1 82864 1.2068E-5 41432 0 2.47795E-5
18-56184378-T-C p.Lys1901Arg missense ALPK2 1 82786 1.20793E-5 41393 0 NA
18-56184389-T-C p.Gln1897Gln synonymous ALPK2 1 82558 1.21127E-5 41279 0 NA
18-56184394-T-G p.Ser1896Arg missense ALPK2 1 82438 1.21303E-5 41219 0 3.18431E-5
18-56184404-C-A p.Glu1892Asp missense ALPK2 67 82334 8.13759E-4 41167 0 0.00165605
18-56191052-C-T p.Arg1884His missense ALPK2 1 82976 1.20517E-5 41488 0 4.94234E-5
18-56191053-G-A p.Arg1884Cys missense ALPK2 2945 82910 0.0355204 41455 63 0.0381307
18-56191072-A-G p.Val1877Val splice_region+synonymous ALPK2 1 83152 1.20262E-5 41576 0 NA
18-56191073-A-G p.Val1877Ala missense+splice_region ALPK2 10 83154 1.20259E-4 41577 0 1.91095E-4
18-56191075-TAGA-T c.5630-5_5630-3delTCT splice_region ALPK2 2 83162 2.40494E-5 41581 0 9.55353E-5
18-56191180-G-A p.Asn1872Asn synonymous ALPK2 3 83288 3.60196E-5 41644 0 6.37105E-5
18-56191197-C-G p.Val1867Leu missense ALPK2 7 83272 8.40619E-5 41636 0 7.56099E-5
18-56191197-C-T p.Val1867Met missense ALPK2 1 83272 1.20088E-5 41636 0 NA
18-56191201-T-C p.Gly1865Gly synonymous ALPK2 1 83276 1.20083E-5 41638 0 2.4737E-5
18-56191203-C-T p.Gly1865Arg missense ALPK2 3 83280 3.60231E-5 41640 0 1.6494E-5
18-56191208-C-G p.Ser1863Thr missense ALPK2 6 83268 7.20565E-5 41634 0 5.60797E-4
18-56191219-G-A p.Cys1859Cys synonymous ALPK2 1 83230 1.20149E-5 41615 0 NA
18-56191229-TAG-T p.Tyr1856fs frameshift ALPK2 1 83228 1.20152E-5 41614 0 NA
18-56191236-C-T p.Gly1854Arg missense ALPK2 1 83192 1.20204E-5 41596 0 7.96077E-6
18-56191238-TG-T p.Gln1853fs frameshift ALPK2 2 83192 2.40408E-5 41596 0 4.12487E-5
18-56191239-G-C p.Gln1853Glu missense ALPK2 5 83200 6.00962E-5 41600 0 6.25E-4
18-56191241-T-C p.Asp1852Gly missense ALPK2 2 83190 2.40414E-5 41595 0 8.24987E-6
18-56191246-C-T p.Pro1850Pro synonymous ALPK2 74 83168 8.89765E-4 41584 1 0.00171964
18-56191247-G-A p.Pro1850Leu missense ALPK2 142 83164 0.00170747 41582 0 0.00229314
18-56191260-C-T p.Val1846Met missense ALPK2 1 83104 1.20331E-5 41552 0 8.25382E-6
18-56191261-G-A p.Ile1845Ile synonymous ALPK2 1 83092 1.20349E-5 41546 0 3.58506E-5
18-56191264-G-A p.Ala1844Ala synonymous ALPK2 2 83086 2.40714E-5 41543 0 8.25491E-6
18-56191271-G-C p.Ser1842Cys missense ALPK2 4 83062 4.81568E-5 41531 0 3.18451E-5
18-56191276-A-G p.Thr1840Thr synonymous ALPK2 1 83042 1.20421E-5 41521 0 NA
18-56191283-T-C p.Asn1838Ser missense ALPK2 2 82976 2.41034E-5 41488 0 7.96597E-5
18-56191295-C-G c.5502-1G>C splice_acceptor ALPK2 2 82888 2.41289E-5 41444 0 8.27705E-6
18-56196316-A-G c.5501+7T>C splice_region ALPK2 74 83094 8.90558E-4 41547 1 0.00117804
18-56196318-C-T c.5501+5G>A splice_region ALPK2 34 83104 4.09126E-4 41552 0 8.27973E-4
18-56196319-G-A c.5501+4C>T splice_region ALPK2 930 83090 0.0111927 41545 30 0.0235122
18-56196359-G-T p.Thr1822Lys missense ALPK2 1 83134 1.20288E-5 41567 0 1.64772E-5
18-56196368-ATAG-A p.Thr1818del disruptive_inframe_deletion ALPK2 26 83122 3.12793E-4 41561 0 1.7118E-4
18-56196382-A-G p.His1814His synonymous ALPK2 6 83056 7.22404E-5 41528 0 0.00151057
18-56196387-T-C p.Ile1813Val missense ALPK2 2 83052 2.40813E-5 41526 0 NA
18-56196392-G-C p.Ala1811Gly missense ALPK2 1 83008 1.2047E-5 41504 0 NA
18-56196400-G-A p.Cys1808Cys synonymous ALPK2 3 82982 3.61524E-5 41491 0 1.56546E-4
18-56196405-T-C p.Ser1807Gly missense ALPK2 3 82952 3.61655E-5 41476 0 6.36659E-5
18-56196412-T-G p.Val1804Val synonymous ALPK2 3 82914 3.61821E-5 41457 0 3.1837E-5
18-56196415-A-AACATGG p.Asn1803_Val1804insHisVal disruptive_inframe_insertion ALPK2 1 82896 1.20633E-5 41448 0 NA
18-56196421-A-G p.Ser1801Ser synonymous ALPK2 1 82882 1.20653E-5 41441 0 3.98295E-6
18-56196425-T-A p.His1800Leu missense ALPK2 1 82862 1.20683E-5 41431 0 8.23968E-6
18-56196429-C-T p.Glu1799Lys missense ALPK2 2 82860 2.41371E-5 41430 0 NA
18-56196435-A-C p.Phe1797Val missense ALPK2 2 82850 2.414E-5 41425 0 2.0017E-5
18-56196442-A-G p.Ala1794Ala synonymous ALPK2 1 82826 1.20735E-5 41413 0 0.00125
18-56196448-G-A p.Ile1792Ile synonymous ALPK2 1 82820 1.20744E-5 41410 0 NA
18-56196451-C-T p.Lys1791Lys synonymous ALPK2 40018 81756 0.489481 40878 10086 0.479815
18-56202059-A-G c.5353+7T>C splice_region ALPK2 70210 70348 0.998038 35174 35037 1.0
18-56202081-T-C p.Lys1780Glu missense ALPK2 1 83176 1.20227E-5 41588 0 NA
18-56202091-C-T p.Lys1776Lys synonymous ALPK2 1 83208 1.20181E-5 41604 0 3.18532E-5
18-56202097-T-TG p.Pro1777fs frameshift ALPK2 1 83224 1.20158E-5 41612 0 NA
18-56202097-T-C p.Pro1774Pro synonymous ALPK2 1 83224 1.20158E-5 41612 0 NA
18-56202115-T-A p.Thr1768Thr synonymous ALPK2 1 83272 1.20088E-5 41636 0 9.07217E-5
18-56202120-G-A p.His1767Tyr missense ALPK2 9431 83014 0.113607 41507 565 0.134375
18-56202131-G-T p.Thr1763Lys missense ALPK2 3 83294 3.6017E-5 41647 0 3.9794E-6
18-56202135-C-T p.Glu1762Lys missense ALPK2 3 83296 3.60161E-5 41648 0 1.27429E-4
18-56202136-G-A p.Leu1761Leu synonymous ALPK2 1 83300 1.20048E-5 41650 0 7.95912E-6
18-56202146-A-C p.Met1758Arg missense ALPK2 1 83292 1.2006E-5 41646 0 NA
18-56202183-C-T p.Glu1746Lys missense ALPK2 1 83326 1.20011E-5 41663 0 NA
18-56202188-T-A p.Glu1744Val missense ALPK2 2 83322 2.40033E-5 41661 0 1.98908E-5
18-56202230-T-G p.Lys1730Thr missense ALPK2 3 83334 3.59997E-5 41667 0 NA
18-56202231-T-C p.Lys1730Glu missense ALPK2 2950 83294 0.0354167 41647 83 0.0553877
18-56202239-ACT-A p.Val1727fs frameshift ALPK2 1 83334 1.19999E-5 41667 0 1.64758E-5
18-56202243-C-A p.Gly1726* stop_gained ALPK2 1 83336 1.19996E-5 41668 0 1.64761E-5
18-56202247-A-G p.Ala1724Ala synonymous ALPK2 2 83342 2.39975E-5 41671 0 NA
18-56202273-C-T p.Glu1716Lys missense ALPK2 1 83336 1.19996E-5 41668 0 8.23805E-6
18-56202289-C-A p.Glu1710Asp missense ALPK2 1 83312 1.20031E-5 41656 0 1.1939E-5
18-56202301-C-T p.Thr1706Thr synonymous ALPK2 4 83250 4.8048E-5 41625 0 6.25E-4
18-56202302-G-A p.Thr1706Met missense ALPK2 14 83246 1.68176E-4 41623 0 9.56328E-5
18-56202317-G-A p.Thr1701Ile missense ALPK2 1 83194 1.20201E-5 41597 0 8.2394E-6
18-56202320-C-T p.Gly1700Glu missense ALPK2 3 83174 3.6069E-5 41587 0 3.18674E-5
18-56202321-C-CT p.Gly1700fs frameshift ALPK2 1 83182 1.20218E-5 41591 0 NA
18-56202325-C-T p.Ser1698Ser synonymous ALPK2 1 83152 1.20262E-5 41576 0 1.19425E-5
18-56202326-G-A p.Ser1698Leu missense ALPK2 3 83154 3.60776E-5 41577 0 3.18634E-5
18-56202335-G-A p.Ala1695Val missense ALPK2 9 83094 1.08311E-4 41547 0 0.0025
18-56202335-G-C p.Ala1695Gly missense ALPK2 2 83094 2.40691E-5 41547 0 NA
18-56202338-C-T p.Arg1694Gln missense ALPK2 60 83076 7.2223E-4 41538 0 0.00100705
18-56202339-G-A p.Arg1694* stop_gained ALPK2 1 83066 1.20386E-5 41533 0 3.98298E-6
18-56202341-G-A p.Ala1693Val missense ALPK2 5 83042 6.02105E-5 41521 0 8.24334E-6
18-56202350-G-A p.Ser1690Phe missense ALPK2 1 82994 1.20491E-5 41497 0 NA
18-56202356-T-G p.Glu1688Ala missense ALPK2 1 82990 1.20496E-5 41495 0 4.12242E-5
18-56202359-C-G p.Arg1687Thr missense ALPK2 1 82968 1.20528E-5 41484 0 NA
18-56202376-C-T p.Ala1681Ala synonymous ALPK2 3 82952 3.61655E-5 41476 0 1.64919E-5
18-56202377-G-A p.Ala1681Val missense ALPK2 2 82944 2.41127E-5 41472 0 3.19346E-5
18-56202386-A-G p.Leu1678Pro missense ALPK2 1 82990 1.20496E-5 41495 0 7.96508E-6
18-56202386-A-C p.Leu1678Arg missense ALPK2 1 82990 1.20496E-5 41495 0 NA
18-56202394-C-T p.Lys1675Lys synonymous ALPK2 9515 82902 0.114774 41451 591 0.13625
18-56202413-A-C p.Leu1669Arg missense ALPK2 1 83078 1.20369E-5 41539 0 3.18552E-5
18-56202418-T-C p.Lys1667Lys synonymous ALPK2 80399 82998 0.968686 41499 39092 0.9925
18-56202440-C-T p.Arg1660His missense ALPK2 1 83178 1.20224E-5 41589 0 4.12732E-5
18-56202441-G-A p.Arg1660Cys missense ALPK2 2 83190 2.40414E-5 41595 0 4.1278E-5
18-56202459-C-A p.Ala1654Ser missense ALPK2 1 83236 1.2014E-5 41618 0 NA
18-56202460-C-T p.Leu1653Leu synonymous ALPK2 5 83232 6.0073E-5 41616 0 6.36902E-5
18-56202462-A-G p.Leu1653Leu synonymous ALPK2 1 83232 1.20146E-5 41616 0 NA
18-56202463-G-A p.Thr1652Thr synonymous ALPK2 8 83228 9.61215E-5 41614 0 9.55657E-5
18-56202469-C-T p.Ala1650Ala synonymous ALPK2 3 83200 3.60577E-5 41600 0 1.65382E-5
18-56202470-G-A p.Ala1650Val missense ALPK2 1322 83170 0.0158952 41585 18 0.0397784
18-56202493-G-A p.Pro1642Pro synonymous ALPK2 1 83148 1.20267E-5 41574 0 NA
18-56202495-G-A p.Pro1642Ser missense ALPK2 1 83138 1.20282E-5 41569 0 NA
18-56202508-A-G p.Ile1637Ile synonymous ALPK2 1 83100 1.20337E-5 41550 0 NA
18-56202509-A-G p.Ile1637Thr missense ALPK2 1 83076 1.20372E-5 41538 0 2.48534E-5
18-56202531-G-C p.Pro1630Ala missense ALPK2 1 82914 1.20607E-5 41457 0 NA
18-56202551-A-T p.Ile1623Lys missense ALPK2 2 82858 2.41377E-5 41429 0 3.98483E-6
18-56202569-T-A p.Asn1617Ile missense ALPK2 4 82898 4.82521E-5 41449 0 1.24123E-4
18-56202585-AAGT-A p.Thr1611del conservative_inframe_deletion ALPK2 13 82884 1.56846E-4 41442 0 3.50341E-4
18-56202605-A-G p.Leu1605Pro missense ALPK2 1 82896 1.20633E-5 41448 0 NA
18-56202609-C-T p.Asp1604Asn missense ALPK2 1 82884 1.20651E-5 41442 0 NA
18-56202617-G-C p.Ser1601Cys missense ALPK2 1 82866 1.20677E-5 41433 0 3.98206E-6
18-56202625-A-G p.Pro1598Pro synonymous ALPK2 1 82828 1.20732E-5 41414 0 NA
18-56202630-T-G p.Lys1597Gln missense ALPK2 2 82792 2.41569E-5 41396 0 8.23818E-6
18-56202635-C-T p.Arg1595His missense ALPK2 3 82784 3.62389E-5 41392 0 4.38031E-5
18-56202647-A-G p.Ile1591Thr missense ALPK2 2 82756 2.41674E-5 41378 0 NA
18-56202680-T-C p.Tyr1580Cys missense ALPK2 1 82704 1.20913E-5 41352 0 2.47121E-5
18-56202683-T-C p.Gln1579Arg missense ALPK2 9114 82602 0.110336 41301 568 0.134375
18-56202686-C-T p.Arg1578His missense ALPK2 4 82700 4.83676E-5 41350 0 4.38142E-5
18-56202690-T-C p.Lys1577Glu missense ALPK2 15 82702 1.81374E-4 41351 0 3.50274E-4
18-56202692-C-G p.Arg1576Thr missense ALPK2 7 82708 8.46351E-5 41354 0 9.88484E-5
18-56202701-A-G p.Val1573Ala missense ALPK2 1 82730 1.20875E-5 41365 0 3.18532E-5
18-56202706-G-A p.Asp1571Asp synonymous ALPK2 1 82754 1.2084E-5 41377 0 6.36983E-5
18-56202706-G-T p.Asp1571Glu missense ALPK2 1 82754 1.2084E-5 41377 0 NA
18-56202717-G-A p.Pro1568Ser missense ALPK2 3 82770 3.6245E-5 41385 0 NA
18-56202720-C-T p.Val1567Ile missense ALPK2 1 82812 1.20755E-5 41406 0 1.59309E-5
18-56202721-G-A p.Asp1566Asp synonymous ALPK2 5 82814 6.03763E-5 41407 0 6.37237E-5
18-56202727-A-T p.Ile1564Ile synonymous ALPK2 1 82892 1.20639E-5 41446 0 NA
18-56202749-G-A p.Thr1557Met missense ALPK2 6 83052 7.22439E-5 41526 0 4.11923E-5
18-56202755-A-G p.Val1555Ala missense ALPK2 1 83090 1.20351E-5 41545 0 NA
18-56202757-C-T p.Gly1554Gly synonymous ALPK2 1 83090 1.20351E-5 41545 0 NA
18-56202761-A-G p.Leu1553Pro missense ALPK2 2 83112 2.40639E-5 41556 0 NA
18-56202764-G-A p.Ser1552Phe missense ALPK2 1 83120 1.20308E-5 41560 0 3.97988E-6
18-56202768-C-A p.Ala1551Ser missense ALPK2 36686 82876 0.442661 41438 8455 0.436875
18-56202768-C-T p.Ala1551Thr missense ALPK2 3 83120 3.60924E-5 41560 0 8.24049E-6
18-56202769-G-A p.His1550His synonymous ALPK2 1 83132 1.20291E-5 41566 0 3.1839E-5
18-56202787-A-G p.Cys1544Cys synonymous ALPK2 2 83174 2.4046E-5 41587 0 NA
18-56202801-G-A p.Pro1540Ser missense ALPK2 2 83198 2.4039E-5 41599 0 2.38745E-5
18-56202844-C-T p.Glu1525Glu synonymous ALPK2 24 83234 2.88344E-4 41617 0 0.00151057
18-56202846-C-T p.Glu1525Lys missense ALPK2 1 83240 1.20135E-5 41620 0 3.98007E-6
18-56202862-C-T p.Gly1519Gly synonymous ALPK2 1 83226 1.20155E-5 41613 0 2.47178E-5
18-56202866-T-C p.Asp1518Gly missense ALPK2 2 83226 2.4031E-5 41613 0 5.96863E-5
18-56202868-A-G p.Ser1517Ser synonymous ALPK2 2 83248 2.40246E-5 41624 0 3.97912E-6
18-56202883-T-A p.Gln1512His missense ALPK2 1 83274 1.20085E-5 41637 0 NA
18-56202895-A-G p.Cys1508Cys synonymous ALPK2 1 83244 1.20129E-5 41622 0 8.23832E-6
18-56202900-C-T p.Gly1507Arg missense ALPK2 2 83234 2.40286E-5 41617 0 3.29533E-5
18-56202903-T-C p.Ser1506Gly missense ALPK2 1 83238 1.20137E-5 41619 0 1.6478E-5
18-56202906-G-A p.Pro1505Ser missense ALPK2 1 83238 1.20137E-5 41619 0 7.16213E-5
18-56202908-A-G p.Ile1504Thr missense ALPK2 7 83236 8.40982E-5 41618 0 NA
18-56202918-C-T p.Gly1501Ser missense ALPK2 6 83194 7.21206E-5 41597 0 3.29554E-5
18-56202919-G-A p.Gly1500Gly synonymous ALPK2 5 83190 6.01034E-5 41595 0 1.15396E-4
18-56202924-C-T p.Glu1499Lys missense ALPK2 5 83194 6.01005E-5 41597 0 9.55049E-5
18-56202936-G-A p.Leu1495Leu synonymous ALPK2 1 83168 1.20239E-5 41584 0 NA
18-56202957-T-A p.Lys1488* stop_gained ALPK2 1 83066 1.20386E-5 41533 0 3.97981E-6
18-56202966-C-T p.Glu1485Lys missense ALPK2 2 82984 2.4101E-5 41492 0 2.47304E-5
18-56202969-G-GACTGACGCTTTCTGGGCTCAACTATGTCA p.Pro1484fs frameshift ALPK2 1 82948 1.20557E-5 41474 0 NA
18-56202977-T-A p.Gln1481Leu missense ALPK2 3 82886 3.61943E-5 41443 0 NA
18-56202982-A-T p.Ala1479Ala synonymous ALPK2 59382 82090 0.723377 41045 21755 0.747866
18-56202984-C-T p.Ala1479Thr missense ALPK2 1 82738 1.20863E-5 41369 0 NA
18-56202991-C-G p.Lys1476Asn missense ALPK2 1 82670 1.20963E-5 41335 0 NA
18-56203010-C-T p.Ser1470Asn missense ALPK2 1 82422 1.21327E-5 41211 0 NA
18-56203020-T-C p.Ile1467Val missense ALPK2 2 82364 2.42825E-5 41182 0 NA
18-56203024-AT-A p.Asn1465fs frameshift ALPK2 1 82300 1.21507E-5 41150 0 NA
18-56203039-G-A p.Thr1460Thr synonymous ALPK2 9 82280 1.09383E-4 41140 0 9.55292E-5
18-56203039-G-C p.Thr1460Thr synonymous ALPK2 2 82280 2.43072E-5 41140 0 3.98667E-6
18-56203040-G-T p.Thr1460Asn missense ALPK2 6 82268 7.29324E-5 41134 0 6.36862E-5
18-56203045-C-T p.Gln1458Gln synonymous ALPK2 1 82260 1.21566E-5 41130 0 7.97353E-6
18-56203056-G-A p.Pro1455Ser missense ALPK2 2 82348 2.42872E-5 41174 0 2.4895E-5
18-56203067-A-G p.Ile1451Thr missense ALPK2 296 82400 0.00359223 41200 4 0.00735669
18-56203072-CGG-TGA p.Pro1449Ser missense ALPK2 7 82422 8.49288E-5 41211 0 NA
18-56203072-C-T p.Pro1449Pro synonymous ALPK2 6 82422 7.27961E-5 41211 0 1.91071E-4
18-56203073-G-A p.Pro1449Leu missense ALPK2 5 82474 6.06252E-5 41237 0 7.96806E-5
18-56203073-GG-AA p.Pro1449Leu missense ALPK2 1 82474 1.2125E-5 41237 0 NA
18-56203074-G-A p.Pro1449Ser missense ALPK2 36218 82106 0.441113 41053 8310 0.436875
18-56203084-C-T p.Ala1445Ala synonymous ALPK2 4 82636 4.84051E-5 41318 0 1.59333E-5
18-56203085-G-A p.Ala1445Val missense ALPK2 1 82648 1.20995E-5 41324 0 8.28061E-6
18-56203089-C-T p.Glu1444Lys missense ALPK2 1 82740 1.20861E-5 41370 0 4.14044E-5
18-56203091-T-C p.His1443Arg missense ALPK2 1 82776 1.20808E-5 41388 0 NA
18-56203095-C-T p.Gly1442Ser missense ALPK2 1 82846 1.20706E-5 41423 0 5.03525E-4
18-56203098-T-C p.Met1441Val missense ALPK2 75 82878 9.04945E-4 41439 1 0.00117804
18-56203105-G-A p.Asp1438Asp synonymous ALPK2 1 82988 1.20499E-5 41494 0 3.58369E-5
18-56203105-G-C p.Asp1438Glu missense ALPK2 1 82988 1.20499E-5 41494 0 8.27856E-6
18-56203114-T-C p.Gln1435Gln synonymous ALPK2 55 83078 6.62028E-4 41539 0 6.25E-4
18-56203120-C-T p.Gly1433Gly synonymous ALPK2 36548 82828 0.441252 41414 8386 0.436875
18-56203120-C-A p.Gly1433Gly synonymous ALPK2 1 83130 1.20294E-5 41565 0 3.98165E-6
18-56203122-C-T p.Gly1433Arg missense ALPK2 1 83150 1.20265E-5 41575 0 6.61244E-5
18-56203125-C-T p.Glu1432Lys missense ALPK2 2 83182 2.40437E-5 41591 0 9.55292E-5
18-56203131-C-T p.Ala1430Thr missense ALPK2 3 83184 3.60646E-5 41592 0 5.03525E-4
18-56203132-G-A p.Gly1429Gly synonymous ALPK2 4 83186 4.8085E-5 41593 0 4.96007E-5
18-56203134-C-G p.Gly1429Arg missense ALPK2 1 83196 1.20198E-5 41598 0 8.26597E-6
18-56203134-C-T p.Gly1429Ser missense ALPK2 1 83196 1.20198E-5 41598 0 0.00125
18-56203136-T-C p.Gln1428Arg missense ALPK2 1759 83176 0.0211479 41588 24 0.02125
18-56203146-T-C p.Thr1425Ala missense ALPK2 41 83200 4.92788E-4 41600 0 4.29603E-4
18-56203179-A-T p.Tyr1414Asn missense ALPK2 1 83122 1.20305E-5 41561 0 8.256E-6
18-56203187-A-C p.Val1411Gly missense ALPK2 2 83128 2.40593E-5 41564 0 NA
18-56203191-T-C p.Ser1410Gly missense ALPK2 4 83142 4.81105E-5 41571 0 8.25587E-6
18-56203193-A-T p.Ile1409Lys missense ALPK2 2 83154 2.40518E-5 41577 0 1.19423E-5
18-56203194-T-C p.Ile1409Val missense ALPK2 5 83148 6.01337E-5 41574 1 0.00100705
18-56203200-C-T p.Asp1407Asn missense ALPK2 1 83124 1.20302E-5 41562 0 NA
18-56203226-A-G p.Ile1398Thr missense ALPK2 1 83026 1.20444E-5 41513 0 NA
18-56203243-A-G p.Phe1392Phe synonymous ALPK2 1 82942 1.20566E-5 41471 0 8.25655E-6
18-56203252-AAAG-A p.Phe1389del disruptive_inframe_deletion ALPK2 9520 82820 0.114948 41410 587 0.1143
18-56203257-A-T p.Phe1388Ile missense ALPK2 7 82836 8.45043E-5 41418 0 1.28361E-4
18-56203261-A-G p.Thr1386Thr synonymous ALPK2 1 82808 1.20761E-5 41404 0 3.29734E-5
18-56203262-G-A p.Thr1386Ile missense ALPK2 1 82804 1.20767E-5 41402 0 NA
18-56203279-T-C p.Gln1380Gln synonymous ALPK2 122 82608 0.00147685 41304 0 0.00150848
18-56203281-G-A p.Gln1380* stop_gained ALPK2 1 82566 1.21115E-5 41283 0 NA
18-56203289-T-G p.Glu1377Ala missense ALPK2 1 82472 1.21253E-5 41236 0 NA
18-56203297-T-C p.Gln1374Gln synonymous ALPK2 5 82390 6.0687E-5 41195 0 4.94666E-5
18-56203299-G-C p.Gln1374Glu missense ALPK2 2 82372 2.42801E-5 41186 0 7.17789E-5
18-56203308-T-G p.Asn1371His missense ALPK2 2 82310 2.42984E-5 41155 0 8.24525E-6
18-56203312-A-G p.Val1369Val synonymous ALPK2 2 82250 2.43161E-5 41125 0 NA
18-56203336-A-G p.Ser1361Ser synonymous ALPK2 1 82114 1.21782E-5 41057 0 2.79336E-4
18-56203342-C-T p.Ala1359Ala synonymous ALPK2 1 82100 1.21803E-5 41050 0 3.1841E-5
18-56203343-G-A p.Ala1359Val missense ALPK2 2 82102 2.43599E-5 41051 0 3.18431E-5
18-56203346-G-C p.Ser1358* stop_gained ALPK2 10 82120 1.21773E-4 41060 0 1.59205E-4
18-56203365-A-G p.Ser1352Pro missense ALPK2 2 82188 2.43345E-5 41094 0 1.31662E-4
18-56203369-C-T p.Glu1350Glu synonymous ALPK2 3 82196 3.64981E-5 41098 0 4.94968E-5
18-56203411-G-C p.Pro1336Pro synonymous ALPK2 59412 81990 0.724625 40995 21852 0.747581
18-56203411-GG-CA p.Pro1336Leu missense ALPK2 1 82402 1.21356E-5 41201 0 NA
18-56203414-T-C p.Gln1335Gln synonymous ALPK2 26 82420 3.15457E-4 41210 0 0.00100705
18-56203427-C-T p.Arg1331Gln missense ALPK2 1 82444 1.21294E-5 41222 0 9.8912E-5
18-56203428-G-A p.Arg1331Trp missense ALPK2 34 82450 4.12371E-4 41225 0 6.0498E-4
18-56203447-A-G p.His1324His synonymous ALPK2 59558 82168 0.724832 41084 21900 0.74772
18-56203464-G-T p.Pro1319Thr missense ALPK2 1 82486 1.21233E-5 41243 0 3.98664E-6
18-56203468-T-C p.Glu1317Glu synonymous ALPK2 5 82494 6.06105E-5 41247 0 3.9861E-6
18-56203470-C-T p.Glu1317Lys missense ALPK2 6 82488 7.27379E-5 41244 0 6.36699E-5
18-56203470-CG-C p.Glu1317fs frameshift ALPK2 1 82488 1.2123E-5 41244 0 NA
18-56203471-G-A p.Gly1316Gly synonymous ALPK2 2 82484 2.42471E-5 41242 0 1.11629E-4
18-56203473-C-T p.Gly1316Ser missense ALPK2 1 82498 1.21215E-5 41249 0 3.98606E-6
18-56203489-G-T p.Ser1310Arg missense ALPK2 2 82448 2.42577E-5 41224 0 3.98673E-6
18-56203492-A-C p.Asp1309Glu missense ALPK2 1 82450 1.21286E-5 41225 0 3.98629E-6
18-56203492-A-G p.Asp1309Asp synonymous ALPK2 1 82450 1.21286E-5 41225 0 NA
18-56203514-T-C p.Asp1302Gly missense ALPK2 2 82434 2.42618E-5 41217 0 3.2956E-5
18-56203516-C-T p.Glu1301Glu synonymous ALPK2 3 82444 3.63883E-5 41222 0 2.47162E-5
18-56203525-G-C p.His1298Gln missense ALPK2 2 82436 2.42612E-5 41218 0 1.19522E-5
18-56203527-G-A p.His1298Tyr missense ALPK2 1 82440 1.213E-5 41220 0 NA
18-56203533-A-G p.Leu1296Leu synonymous ALPK2 1 82432 1.21312E-5 41216 0 6.59065E-5
18-56203550-G-A p.Pro1290Leu missense ALPK2 1 82378 1.21392E-5 41189 0 3.98273E-6
18-56203556-A-G p.Leu1288Ser missense ALPK2 8 82382 9.71086E-5 41191 0 1.89472E-4
18-56203583-A-G p.Leu1279Pro missense ALPK2 1 82332 1.21459E-5 41166 0 3.18512E-5
18-56203599-C-T p.Ala1274Thr missense ALPK2 2 82204 2.43297E-5 41102 0 NA
18-56203601-C-G p.Trp1273Ser missense ALPK2 1 82250 1.21581E-5 41125 0 1.64777E-5
18-56203609-G-A p.Asp1270Asp synonymous ALPK2 1 82192 1.21666E-5 41096 0 7.96267E-6
18-56203615-A-G p.Ile1268Ile synonymous ALPK2 2 82174 2.43386E-5 41087 0 NA
18-56203624-A-G p.Gly1265Gly synonymous ALPK2 3 82132 3.65266E-5 41066 0 1.59317E-4
18-56203629-C-T p.Gly1264Ser missense ALPK2 69 82092 8.4052E-4 41046 0 0.00146497
18-56203630-G-C p.Asp1263Glu missense ALPK2 14 82086 1.70553E-4 41043 0 0.00172007
18-56203630-G-A p.Asp1263Asp synonymous ALPK2 1 82086 1.21823E-5 41043 0 8.24171E-5
18-56203639-C-T p.Lys1260Lys synonymous ALPK2 1 82006 1.21942E-5 41003 0 NA
18-56203645-C-T p.Glu1258Glu synonymous ALPK2 1 81946 1.22032E-5 40973 0 NA
18-56203664-C-T p.Arg1252Gln missense ALPK2 2 81618 2.45044E-5 40809 0 2.47402E-5
18-56203667-G-A p.Pro1251Leu missense ALPK2 1 81628 1.22507E-5 40814 0 NA
18-56203667-G-C p.Pro1251Arg missense ALPK2 1 81628 1.22507E-5 40814 0 NA
18-56203670-G-A p.Pro1250Leu missense ALPK2 5 81576 6.12925E-5 40788 0 4.28852E-4
18-56203673-C-T p.Trp1249* stop_gained ALPK2 1 81558 1.22612E-5 40779 0 NA
18-56203682-G-T p.Ser1246Tyr missense ALPK2 121 81536 0.00148401 40768 1 0.0020141
18-56203686-C-T p.Ala1245Thr missense ALPK2 3 81454 3.68306E-5 40727 0 1.99295E-5
18-56203687-G-A p.Ser1244Ser synonymous ALPK2 6 81488 7.36305E-5 40744 0 3.30022E-5
18-56203693-C-T p.Glu1242Glu synonymous ALPK2 1 81578 1.22582E-5 40789 0 NA
18-56203715-T-A p.Lys1235Met missense ALPK2 1 81742 1.22336E-5 40871 0 NA
18-56203719-T-C p.Asn1234Asp missense ALPK2 1 81740 1.22339E-5 40870 0 0.001875
18-56203720-G-A p.Gly1233Gly synonymous ALPK2 2 81716 2.4475E-5 40858 0 NA
18-56203726-C-G p.Glu1231Asp missense ALPK2 1 81844 1.22184E-5 40922 0 NA
18-56203748-T-G p.Glu1224Ala missense ALPK2 1 82126 1.21764E-5 41063 0 NA
18-56203783-T-C p.Pro1212Pro synonymous ALPK2 1 82348 1.21436E-5 41174 0 1.64818E-5
18-56203788-C-T p.Val1211Ile missense ALPK2 63 82396 7.646E-4 41198 0 0.00219703
18-56203789-G-A p.Asn1210Asn synonymous ALPK2 3 82402 3.64069E-5 41201 0 9.55597E-5
18-56203795-CAG-C p.Leu1208fs frameshift ALPK2 1 82436 1.21306E-5 41218 0 NA
18-56203802-TGAC-T p.Ser1205_Gln1206delinsLys disruptive_inframe_deletion ALPK2 1 82456 1.21277E-5 41228 0 NA
18-56203812-C-T p.Glu1203Lys missense ALPK2 1 82536 1.21159E-5 41268 0 NA
18-56203816-C-T p.Gly1201Gly synonymous ALPK2 1 82556 1.2113E-5 41278 0 NA
18-56203836-C-T p.Val1195Met missense ALPK2 61 82580 7.38678E-4 41290 0 0.00489534
18-56203837-G-A p.Ser1194Ser synonymous ALPK2 2829 82540 0.0342743 41270 74 0.0528701
18-56203847-G-A p.Thr1191Met missense ALPK2 8 82600 9.68523E-5 41300 0 1.19582E-5
18-56203851-C-T p.Gly1190Arg missense ALPK2 1 82638 1.2101E-5 41319 0 NA
18-56203855-A-C p.Gly1188Gly synonymous ALPK2 2 82640 2.42014E-5 41320 0 3.18735E-5
18-56203857-C-G p.Gly1188Arg missense ALPK2 2 82668 2.41932E-5 41334 0 8.2409E-6
18-56203860-A-T p.Ser1187Thr missense ALPK2 2 82626 2.42055E-5 41313 0 3.18776E-5
18-56203862-C-T p.Arg1186His missense ALPK2 2 82620 2.42072E-5 41310 0 3.18552E-5
18-56203863-G-A p.Arg1186Cys missense ALPK2 4 82606 4.84226E-5 41303 0 7.96902E-5
18-56203881-T-C p.Arg1180Gly missense ALPK2 1 82598 1.21068E-5 41299 0 NA
18-56203886-C-T p.Ser1178Asn missense ALPK2 1 82584 1.21089E-5 41292 0 4.12058E-5
18-56203890-C-T p.Ala1177Thr missense ALPK2 2 82550 2.42277E-5 41275 0 8.24226E-6
18-56203891-G-T p.Pro1176Pro synonymous ALPK2 59494 82228 0.723525 41114 21803 0.747289
18-56203891-G-A p.Pro1176Pro synonymous ALPK2 2 82548 2.42283E-5 41274 0 3.98686E-6
18-56203898-T-G p.His1174Pro missense ALPK2 59423 82132 0.723506 41066 21778 0.747201
18-56203903-C-T p.Thr1172Thr synonymous ALPK2 4 82460 4.85084E-5 41230 0 2.47243E-5
18-56203904-G-A p.Thr1172Met missense ALPK2 2 82462 2.42536E-5 41231 0 6.37105E-5
18-56203908-G-T p.Pro1171Thr missense ALPK2 1 82436 1.21306E-5 41218 0 6.59326E-5
18-56203923-C-T p.Glu1166Lys missense ALPK2 3 82438 3.6391E-5 41219 0 3.18431E-5
18-56203924-C-T p.Glu1165Glu synonymous ALPK2 1 82432 1.21312E-5 41216 0 3.98502E-6
18-56203924-C-G p.Glu1165Asp missense ALPK2 3 82432 3.63936E-5 41216 0 NA
18-56203943-G-A p.Thr1159Met missense ALPK2 6 82382 7.28314E-5 41191 0 2.78982E-5
18-56203944-T-C p.Thr1159Ala missense ALPK2 9 82384 1.09245E-4 41192 0 6.59326E-5
18-56203950-A-C p.Leu1157Val missense ALPK2 1 82408 1.21347E-5 41204 0 1.27405E-4
18-56203950-A-G p.Leu1157Leu synonymous ALPK2 1 82408 1.21347E-5 41204 0 NA
18-56203952-C-G p.Ser1156Thr missense ALPK2 24 82402 2.91255E-4 41201 0 6.36943E-4
18-56203966-A-G p.Pro1151Pro synonymous ALPK2 1 82444 1.21294E-5 41222 0 NA
18-56203975-A-G p.Leu1148Leu synonymous ALPK2 2 82470 2.42512E-5 41235 0 3.98483E-6
18-56203977-G-C p.Leu1148Val missense ALPK2 28 82474 3.39501E-4 41237 0 7.64234E-4
18-56203981-AC-A p.Gly1146fs frameshift ALPK2 2 82452 2.42565E-5 41226 0 3.98521E-6
18-56203982-C-T p.Gly1146Asp missense ALPK2 4 82446 4.85166E-5 41223 0 4.94576E-5
18-56203983-C-G p.Gly1146Arg missense ALPK2 5 82466 6.0631E-5 41233 0 3.18451E-5
18-56203993-C-T p.Leu1142Leu synonymous ALPK2 1 82478 1.21244E-5 41239 0 1.99248E-5
18-56204014-C-T p.Gln1135Gln synonymous ALPK2 4 82490 4.84907E-5 41245 0 NA
18-56204017-CTTTG-C p.Thr1133fs frameshift ALPK2 2 82488 2.4246E-5 41244 0 2.47337E-5
18-56204025-C-T p.Glu1132Lys missense ALPK2 4 82480 4.84966E-5 41240 0 4.12256E-5
18-56204026-A-G p.Ser1131Ser synonymous ALPK2 28 82466 3.39534E-4 41233 0 0.00103067
18-56204030-C-A p.Gly1130Val missense ALPK2 3 82466 3.63786E-5 41233 0 NA
18-56204049-C-G p.Glu1124Gln missense ALPK2 3 82316 3.64449E-5 41158 0 7.57461E-5
18-56204115-G-T p.Gln1102Lys missense ALPK2 1 82054 1.21871E-5 41027 0 NA
18-56204131-G-A p.Cys1096Cys synonymous ALPK2 1 82230 1.2161E-5 41115 0 NA
18-56204158-C-T p.Leu1087Leu synonymous ALPK2 1 82418 1.21333E-5 41209 0 8.25014E-6
18-56204159-A-G p.Leu1087Pro missense ALPK2 2 82428 2.42636E-5 41214 0 9.54988E-5
18-56204167-G-T p.His1084Gln missense ALPK2 7 82476 8.48732E-5 41238 0 5.03525E-4
18-56204167-G-A p.His1084His synonymous ALPK2 2 82476 2.42495E-5 41238 0 1.23746E-4
18-56204181-G-A p.Pro1080Ser missense ALPK2 2 82528 2.42342E-5 41264 0 NA
18-56204189-G-C p.Pro1077Arg missense ALPK2 1 82526 1.21174E-5 41263 0 NA
18-56204190-G-A p.Pro1077Ser missense ALPK2 4 82528 4.84684E-5 41264 0 3.1839E-5
18-56204213-G-A p.Thr1069Ile missense ALPK2 1 82486 1.21233E-5 41243 0 3.98562E-6
18-56204216-G-T p.Ser1068Tyr missense ALPK2 1 82492 1.21224E-5 41246 0 NA
18-56204231-C-A p.Gly1063Val missense ALPK2 452 82380 0.00548677 41190 8 0.0116583
18-56204247-C-T p.Asp1058Asn missense ALPK2 7 82352 8.5001E-5 41176 0 0.00125
18-56204250-A-C p.Leu1057Val missense ALPK2 59440 82028 0.724631 41014 21839 0.747685
18-56204252-T-G p.Gln1056Pro missense ALPK2 1 82348 1.21436E-5 41174 0 NA
18-56204256-C-A p.Val1055Leu missense ALPK2 1 82336 1.21454E-5 41168 0 NA
18-56204258-T-C p.Gln1054Arg missense ALPK2 2 82332 2.42919E-5 41166 0 3.18654E-5
18-56204277-C-T p.Val1048Ile missense ALPK2 2 82392 2.42742E-5 41196 0 7.97188E-6
18-56204289-A-C p.Ser1044Ala missense ALPK2 6 82492 7.27343E-5 41246 0 1.31828E-4
18-56204289-A-T p.Ser1044Thr missense ALPK2 1 82492 1.21224E-5 41246 0 NA
18-56204294-C-T p.Arg1042His missense ALPK2 4 82508 4.84801E-5 41254 0 7.96984E-5
18-56204295-G-A p.Arg1042Cys missense ALPK2 2 82510 2.42395E-5 41255 0 8.2394E-6
18-56204298-GGAAC-G p.Arg1039fs frameshift ALPK2 1 82530 1.21168E-5 41265 0 3.98467E-6
18-56204303-C-T p.Arg1039Lys missense ALPK2 1 82552 1.21136E-5 41276 0 3.98464E-6
18-56204311-A-G p.Thr1036Thr synonymous ALPK2 2 82582 2.42184E-5 41291 0 3.98448E-6
18-56204316-C-G p.Gly1035Arg missense ALPK2 1 82618 1.21039E-5 41309 0 NA
18-56204323-A-C p.His1032Gln missense ALPK2 17 82676 2.05622E-4 41338 0 1.91095E-4
18-56204334-C-G p.Glu1029Gln missense ALPK2 1 82726 1.20881E-5 41363 0 8.23873E-6
18-56204340-T-C p.Ile1027Val missense ALPK2 5 82778 6.04025E-5 41389 0 3.58583E-5
18-56204364-G-T p.Pro1019Thr missense ALPK2 2 82904 2.41243E-5 41452 0 3.18593E-5
18-56204369-A-C p.Val1017Gly missense ALPK2 1 82910 1.20613E-5 41455 0 3.99208E-6
18-56204373-C-T p.Glu1016Lys missense ALPK2 2 82924 2.41185E-5 41462 0 6.25E-4
18-56204374-G-A p.Thr1015Thr synonymous ALPK2 5 82914 6.03034E-5 41457 0 7.41534E-5
18-56204381-A-G p.Ile1013Thr missense ALPK2 12 82914 1.44728E-4 41457 0 1.86651E-4
18-56204381-A-T p.Ile1013Asn missense ALPK2 1 82914 1.20607E-5 41457 0 NA
18-56204387-ACAGTTGATGTGTCCT-A p.Glu1006_Thr1010del disruptive_inframe_deletion ALPK2 40985 82462 0.497017 41231 10225 0.488916
18-56204388-C-T p.Val1011Ile missense ALPK2 1 77474 1.29076E-5 38737 0 NA
18-56204398-G-A p.Asp1007Asp synonymous ALPK2 10 60944 1.64085E-4 30472 0 1.69127E-4
18-56204410-C-T p.Arg1003Arg synonymous ALPK2 40622 81902 0.495983 40951 10152 0.489849
18-56204416-C-A p.Ala1001Ala synonymous ALPK2 3 83084 3.6108E-5 41542 0 8.26078E-6
18-56204416-C-T p.Ala1001Ala synonymous ALPK2 1 83086 1.20357E-5 41543 0 NA
18-56204417-G-A p.Ala1001Val missense ALPK2 5 83098 6.01699E-5 41549 0 9.07471E-5
18-56204431-A-G p.Asn996Asn synonymous ALPK2 3 83202 3.60568E-5 41601 0 8.23778E-6
18-56204456-T-G p.Lys988Thr missense ALPK2 1 83278 1.2008E-5 41639 0 NA
18-56204461-C-A p.Trp986Cys missense ALPK2 4 83282 4.80296E-5 41641 0 6.37105E-5
18-56204464-A-G p.Pro985Pro synonymous ALPK2 2 83288 2.40131E-5 41644 0 1.6475E-5
18-56204465-G-A p.Pro985Leu missense ALPK2 1 83288 1.20065E-5 41644 0 NA
18-56204478-T-C p.Ile981Val missense ALPK2 1 83304 1.20042E-5 41652 0 NA
18-56204480-G-A p.Ser980Leu missense ALPK2 1 83304 1.20042E-5 41652 0 1.19347E-5
18-56204485-A-G p.Tyr978Tyr synonymous ALPK2 1 83310 1.20034E-5 41655 0 NA
18-56204485-A-C p.Tyr978* stop_gained ALPK2 4 83310 4.80134E-5 41655 0 8.23737E-6
18-56204487-A-G p.Tyr978His missense ALPK2 209 83312 0.00250864 41656 0 0.00617913
18-56204489-C-G p.Ser977Thr missense ALPK2 3317 83246 0.0398458 41623 119 0.0735146
18-56204489-CTGGCTGGTG-C p.Thr974_Ala976del disruptive_inframe_deletion ALPK2 6 83318 7.20133E-5 41659 0 9.55718E-5
18-56204492-G-T p.Ala976Asp missense ALPK2 1 83316 1.20025E-5 41658 0 NA
18-56204496-G-A p.Pro975Ser missense ALPK2 1 83332 1.20002E-5 41666 0 3.97741E-6
18-56204509-G-A p.Asp970Asp synonymous ALPK2 2 83318 2.40044E-5 41659 0 NA
18-56204514-C-T p.Ala969Thr missense ALPK2 3 83314 3.60084E-5 41657 0 1.31839E-4
18-56204515-G-A p.Ala968Ala synonymous ALPK2 4 83314 4.80111E-5 41657 0 5.03525E-4
18-56204521-A-G p.Pro966Pro synonymous ALPK2 2 83314 2.40056E-5 41657 0 NA
18-56204522-G-C p.Pro966Arg missense ALPK2 4 83316 4.801E-5 41658 0 3.18512E-5
18-56204526-T-TG p.Ser965fs frameshift ALPK2 1 83322 1.20016E-5 41661 0 NA
18-56204539-A-T p.Gly960Gly synonymous ALPK2 1 83298 1.20051E-5 41649 0 3.18715E-5
18-56204541-C-T p.Gly960Ser missense ALPK2 2 83298 2.40102E-5 41649 0 3.18471E-5
18-56204545-T-G p.Glu958Asp missense ALPK2 1 83282 1.20074E-5 41641 0 NA
18-56204565-G-A p.Pro952Ser missense ALPK2 1 83246 1.20126E-5 41623 0 7.96311E-6
18-56204565-G-C p.Pro952Ala missense ALPK2 2 83246 2.40252E-5 41623 0 6.36943E-5
18-56204569-G-A p.Asn950Asn synonymous ALPK2 3 83238 3.60412E-5 41619 0 2.47729E-5
18-56204571-T-C p.Asn950Asp missense ALPK2 51 83230 6.1276E-4 41615 0 4.06171E-4
18-56204575-A-G p.Ser948Ser synonymous ALPK2 1 83218 1.20166E-5 41609 0 NA
18-56204581-A-T p.Leu946Leu synonymous ALPK2 25 83204 3.00466E-4 41602 0 0.00206547
18-56204609-G-A p.Ser937Leu missense ALPK2 2 83114 2.40633E-5 41557 0 0.00100705
18-56204614-G-A p.Ser935Ser synonymous ALPK2 1 83084 1.2036E-5 41542 0 NA
18-56204619-G-A p.Pro934Ser missense ALPK2 1 83066 1.20386E-5 41533 0 NA
18-56204641-A-G p.His926His synonymous ALPK2 1 82958 1.20543E-5 41479 0 8.27691E-6
18-56204644-T-G p.Val925Val synonymous ALPK2 27773 82706 0.335804 41353 4995 0.400625
18-56204671-A-T p.Asn916Lys missense ALPK2 41484 82542 0.502581 41271 10690 0.500672
18-56204689-A-AT p.Asn910fs frameshift ALPK2 1 82846 1.20706E-5 41423 0 NA
18-56204697-CT-C p.Gly908fs frameshift ALPK2 1 82826 1.20735E-5 41413 0 NA
18-56204703-C-T p.Ala906Thr missense ALPK2 2 82796 2.41558E-5 41398 0 8.27321E-6
18-56204735-G-A p.Thr895Ile missense ALPK2 3 82780 3.62406E-5 41390 0 NA
18-56204745-T-C p.Ser892Gly missense ALPK2 1 82782 1.20799E-5 41391 0 8.2605E-6
18-56204745-TGG-GGA p.ThrSer891IleArg missense ALPK2 1 82782 1.20799E-5 41391 0 NA
18-56204747-G-A p.Thr891Ile missense ALPK2 71955 82266 0.874663 41133 31750 0.880068
18-56204763-T-C p.Met886Val missense ALPK2 1 82678 1.20951E-5 41339 0 NA
18-56204768-G-A p.Ser884Leu missense ALPK2 2820 82620 0.0341322 41310 75 0.0523666
18-56204775-C-T p.Gly882Ser missense ALPK2 1 82602 1.21062E-5 41301 0 1.65016E-5
18-56204776-G-A p.Asp881Asp synonymous ALPK2 42 82602 5.08462E-4 41301 0 0.001875
18-56204778-C-T p.Asp881Asn missense ALPK2 1 82602 1.21062E-5 41301 0 NA
18-56204794-C-T p.Thr875Thr synonymous ALPK2 557 82510 0.0067507 41255 20 0.0357503
18-56204794-CGT-TGG p.Thr875Pro missense ALPK2 1661 82494 0.0201348 41247 16 NA
18-56204795-G-A p.Thr875Met missense ALPK2 11 82514 1.33311E-4 41257 0 1.95331E-4
18-56204795-G-C p.Thr875Arg missense ALPK2 1 82514 1.21192E-5 41257 0 NA
18-56204796-T-G p.Thr875Pro missense ALPK2 131 82500 0.00158788 41250 13 0.030715
18-56204820-G-C p.Gln867Glu missense ALPK2 3 82492 3.63672E-5 41246 0 NA
18-56204828-A-G p.Phe864Ser missense ALPK2 1 82532 1.21165E-5 41266 0 NA
18-56204832-A-G p.Phe863Leu missense ALPK2 462 82556 0.0055962 41278 8 0.0116575
18-56204833-G-A p.Val862Val synonymous ALPK2 2 82556 2.4226E-5 41278 0 7.97677E-6
18-56204838-C-G p.Glu861Gln missense ALPK2 1 82572 1.21106E-5 41286 0 6.3678E-5
18-56204842-T-C p.Thr859Thr synonymous ALPK2 20 82592 2.42154E-4 41296 0 3.50296E-4
18-56204845-C-T p.Lys858Lys synonymous ALPK2 1 82612 1.21048E-5 41306 0 NA
18-56204847-T-C p.Lys858Glu missense ALPK2 1 82626 1.21027E-5 41313 0 NA
18-56204850-C-T p.Asp857Asn missense ALPK2 1 82636 1.21013E-5 41318 0 3.1837E-5
18-56204853-T-TAGA p.Ser855dup conservative_inframe_insertion ALPK2 1 82636 1.21013E-5 41318 0 NA
18-56204862-A-G p.Cys853Arg missense ALPK2 17 82726 2.05498E-4 41363 0 5.03525E-4
18-56204863-T-C p.Leu852Leu synonymous ALPK2 1 82732 1.20872E-5 41366 0 NA
18-56204867-T-C p.Asp851Gly missense ALPK2 1 82750 1.20846E-5 41375 0 NA
18-56204877-T-A p.Lys848* stop_gained ALPK2 2 82802 2.4154E-5 41401 0 8.26624E-6
18-56204877-TG-T p.Asn847fs frameshift ALPK2 1 82802 1.2077E-5 41401 0 3.98762E-6
18-56204881-T-C p.Gln846Gln synonymous ALPK2 1 82816 1.2075E-5 41408 0 NA
18-56204895-G-A p.Leu842Leu synonymous ALPK2 1 82856 1.20691E-5 41428 0 3.98667E-6
18-56204899-C-T p.Thr840Thr synonymous ALPK2 2 82848 2.41406E-5 41424 0 3.30393E-5
18-56204901-T-C p.Thr840Ala missense ALPK2 1 82856 1.20691E-5 41428 0 NA
18-56204912-C-A p.Cys836Phe missense ALPK2 1 82862 1.20683E-5 41431 0 8.25273E-6
18-56204926-C-T p.Ser831Ser synonymous ALPK2 334 82846 0.00403158 41423 4 0.00891777
18-56204927-G-A p.Ser831Leu missense ALPK2 3 82868 3.62022E-5 41434 0 7.97016E-6
18-56204932-T-G p.Lys829Asn missense ALPK2 41484 82560 0.502471 41280 10697 0.499936
18-56204943-GTC-TTG p.ArgPro825ThrThr missense ALPK2 55 82892 6.63514E-4 41446 0 NA
18-56204943-G-T p.Pro826Thr missense ALPK2 73 82892 8.80664E-4 41446 0 0.00264382
18-56204945-C-G p.Arg825Thr missense ALPK2 41431 82578 0.50172 41289 10700 0.500032
18-56204950-A-G p.Val823Val synonymous ALPK2 1 82912 1.2061E-5 41456 0 NA
18-56204975-C-T p.Cys815Tyr missense ALPK2 1 83006 1.20473E-5 41503 0 3.98178E-6
18-56204977-C-T p.Thr814Thr synonymous ALPK2 41486 82636 0.502033 41318 10703 0.500096
18-56204978-G-A p.Thr814Met missense ALPK2 1 83022 1.2045E-5 41511 0 1.99102E-5
18-56204991-C-T p.Gly810Ser missense ALPK2 41494 82646 0.502069 41323 10709 0.499808
18-56204997-C-T p.Glu808Lys missense ALPK2 1 83090 1.20351E-5 41545 0 1.5927E-5
18-56205008-A-G p.Met804Thr missense ALPK2 1 83140 1.20279E-5 41570 0 8.23913E-6
18-56205018-C-T p.Val801Met missense ALPK2 2 83156 2.40512E-5 41578 0 3.18471E-5
18-56205026-C-G p.Arg798Thr missense ALPK2 1 83146 1.2027E-5 41573 0 2.78645E-5
18-56205058-G-A p.Thr787Thr synonymous ALPK2 1 83056 1.20401E-5 41528 0 NA
18-56205064-G-A p.Ala785Ala synonymous ALPK2 2 83034 2.40865E-5 41517 0 NA
18-56205093-C-G p.Val776Leu missense ALPK2 17 82928 2.04997E-4 41464 0 4.14013E-4
18-56205096-A-G p.Ser775Pro missense ALPK2 38 82940 4.58163E-4 41470 0 6.05211E-4
18-56205109-C-T p.Glu770Glu synonymous ALPK2 1 82900 1.20627E-5 41450 0 5.76663E-5
18-56205115-G-A p.Phe768Phe synonymous ALPK2 3 82910 3.61838E-5 41455 0 NA
18-56205125-C-T p.Arg765His missense ALPK2 3 82924 3.61777E-5 41462 0 3.18431E-5
18-56205126-G-A p.Arg765Cys missense ALPK2 16 82916 1.92966E-4 41458 0 5.73248E-4
18-56205132-C-G p.Asp763His missense ALPK2 2 82942 2.41132E-5 41471 0 NA
18-56205134-T-C p.Lys762Arg missense ALPK2 72 82944 8.68056E-4 41472 0 0.00277158
18-56205156-C-A p.Val755Leu missense ALPK2 1 83040 1.20424E-5 41520 0 3.18532E-5
18-56205163-G-A p.Ser752Ser synonymous ALPK2 2 83062 2.40784E-5 41531 0 7.95893E-6
18-56205167-A-G p.Met751Thr missense ALPK2 1 83072 1.20378E-5 41536 0 1.19374E-5
18-56205195-T-C p.Ser742Gly missense ALPK2 2 83182 2.40437E-5 41591 0 7.5584E-5
18-56205217-C-T p.Arg734Arg synonymous ALPK2 2 83208 2.40361E-5 41604 0 1.19343E-5
18-56205234-T-C p.Ile729Val missense ALPK2 1 83220 1.20163E-5 41610 0 NA
18-56205262-A-C p.His719Gln missense ALPK2 41308 82516 0.500606 41258 10557 0.500351
18-56205262-A-G p.His719His synonymous ALPK2 29 83164 3.48709E-4 41582 0 0.0011325
18-56205279-T-A p.Thr714Ser missense ALPK2 1 83090 1.20351E-5 41545 0 3.9782E-6
18-56205285-G-GT p.Pro712fs frameshift ALPK2 1 83068 1.20383E-5 41534 0 NA
18-56205295-C-T p.Ser708Ser synonymous ALPK2 4 83042 4.81684E-5 41521 0 8.24266E-6
18-56205296-G-A p.Ser708Leu missense ALPK2 2 83058 2.40796E-5 41529 0 6.36821E-5
18-56205303-G-C p.Gln706Glu missense ALPK2 2 83076 2.40743E-5 41538 0 NA
18-56205305-G-A p.Ala705Val missense ALPK2 2 83064 2.40778E-5 41532 0 3.18492E-5
18-56205306-C-T p.Ala705Thr missense ALPK2 1 83068 1.20383E-5 41534 0 NA
18-56205308-A-G p.Leu704Ser missense ALPK2 1 83066 1.20386E-5 41533 0 NA
18-56205331-C-A p.Gly696Gly synonymous ALPK2 32 83012 3.85486E-4 41506 0 0.00100705
18-56205333-C-T p.Gly696Arg missense ALPK2 1 83012 1.20465E-5 41506 0 3.98356E-6
18-56205347-A-G p.Phe691Ser missense ALPK2 3 82946 3.61681E-5 41473 0 2.79212E-5
18-56205357-T-C p.Thr688Ala missense ALPK2 1 82928 1.20587E-5 41464 0 NA
18-56205373-T-TG p.Phe683fs frameshift ALPK2 228 82770 0.00275462 41385 0 0.00186141
18-56205379-C-T p.Glu680Glu synonymous ALPK2 1 82706 1.2091E-5 41353 0 1.20624E-5
18-56205385-C-T p.Gly678Gly synonymous ALPK2 3 82602 3.63187E-5 41301 0 8.41708E-6
18-56205388-A-G p.Ala677Ala synonymous ALPK2 1 82552 1.21136E-5 41276 0 8.43185E-6
18-56205401-A-G p.Phe673Ser missense ALPK2 1 82226 1.21616E-5 41113 0 8.45909E-6
18-56205411-T-G p.Met670Leu missense ALPK2 2 81916 2.44153E-5 40958 0 NA
18-56205416-C-G p.Ser668Thr missense ALPK2 2 81790 2.44529E-5 40895 0 3.18451E-5
18-56205426-T-A p.Ile665Phe missense ALPK2 1 81640 1.22489E-5 40820 0 NA
18-56205444-C-T p.Glu659Lys missense ALPK2 1 81100 1.23305E-5 40550 0 NA
18-56205460-G-A c.1963-4C>T splice_region ALPK2 4 80494 4.96931E-5 40247 0 8.78812E-5
18-56246041-C-T c.1962+5G>A splice_region ALPK2 1 82920 1.20598E-5 41460 0 NA
18-56246052-A-G p.Pro652Pro synonymous ALPK2 1 83100 1.20337E-5 41550 0 NA
18-56246065-T-TCTGGAA p.Val646_Pro647dup conservative_inframe_insertion ALPK2 3 83184 3.60646E-5 41592 0 5.1771E-5
18-56246079-T-G p.Thr643Thr synonymous ALPK2 1 83250 1.2012E-5 41625 0 NA
18-56246105-T-C p.Met635Val missense ALPK2 1 83310 1.20034E-5 41655 0 NA
18-56246120-A-C p.Cys630Gly missense ALPK2 3 83312 3.60092E-5 41656 0 NA
18-56246129-T-C p.Asn627Asp missense ALPK2 1 83300 1.20048E-5 41650 0 NA
18-56246138-T-C p.Lys624Glu missense ALPK2 2 83304 2.40085E-5 41652 0 2.47105E-5
18-56246139-G-A p.Ser623Ser synonymous ALPK2 33 83304 3.96139E-4 41652 1 0.00222394
18-56246145-T-C p.Ser621Ser synonymous ALPK2 2 83294 2.40113E-5 41647 0 2.86551E-4
18-56246147-A-G p.Ser621Pro missense ALPK2 1 83294 1.20057E-5 41647 0 5.03525E-4
18-56246191-G-A p.Thr606Ile missense ALPK2 3 83184 3.60646E-5 41592 0 1.15407E-4
18-56246230-C-T p.Arg593Gln missense ALPK2 1 83082 1.20363E-5 41541 0 1.99046E-5
18-56246231-G-A p.Arg593Trp missense ALPK2 2 83080 2.40732E-5 41540 0 3.18461E-5
18-56246233-C-A p.Gly592Val missense ALPK2 1 83074 1.20375E-5 41537 0 6.36902E-5
18-56246238-C-T p.Ala590Ala synonymous ALPK2 4 83060 4.8158E-5 41530 0 6.36862E-5
18-56246239-G-A p.Ala590Val missense ALPK2 2 83056 2.40801E-5 41528 0 3.98086E-6
18-56246255-G-C p.His585Asp missense ALPK2 1 83060 1.20395E-5 41530 0 NA
18-56246257-G-C p.Ser584Cys missense ALPK2 1 83030 1.20438E-5 41515 0 8.23737E-6
18-56246264-C-G p.Glu582Gln missense ALPK2 1 83024 1.20447E-5 41512 0 3.1837E-5
18-56246267-T-G p.Arg581Arg synonymous ALPK2 1 83020 1.20453E-5 41510 0 NA
18-56246304-T-C p.Lys568Lys synonymous ALPK2 1 82714 1.20899E-5 41357 0 7.96737E-6
18-56246308-G-T p.Ala567Asp missense ALPK2 1 82674 1.20957E-5 41337 0 9.0626E-5
18-56246319-A-T p.His563Gln missense ALPK2 2 82648 2.4199E-5 41324 0 7.96838E-6
18-56246325-G-C p.Thr561Thr synonymous ALPK2 1 82590 1.2108E-5 41295 0 NA
18-56246329-C-A p.Gly560Val missense ALPK2 2 82594 2.42148E-5 41297 0 3.1841E-5
18-56246329-C-T p.Gly560Asp missense ALPK2 4 82594 4.84297E-5 41297 1 1.1954E-5
18-56246333-C-CT p.Glu559fs frameshift ALPK2 1 82604 1.2106E-5 41302 0 8.23805E-6
18-56246340-A-G p.Ser556Ser synonymous ALPK2 13 82580 1.57423E-4 41290 0 1.64775E-5
18-56246360-T-C p.Asn550Asp missense ALPK2 1 82588 1.21083E-5 41294 0 1.19563E-5
18-56246361-C-T p.Pro549Pro synonymous ALPK2 13 82588 1.57408E-4 41294 0 5.03525E-4
18-56246367-C-T p.Lys547Lys synonymous ALPK2 1 82604 1.2106E-5 41302 0 8.23886E-6
18-56246369-T-C p.Lys547Glu missense ALPK2 3 82600 3.63196E-5 41300 0 NA
18-56246371-G-A p.Pro546Leu missense ALPK2 1 82596 1.21071E-5 41298 0 NA
18-56246388-C-T p.Pro540Pro synonymous ALPK2 4 82686 4.83758E-5 41343 0 1.07105E-4
18-56246389-G-A p.Pro540Leu missense ALPK2 534 82680 0.00645864 41340 11 0.0112252
18-56246422-C-T p.Arg529Lys missense ALPK2 1 82654 1.20986E-5 41327 0 8.23791E-6
18-56246437-T-C p.Asp524Gly missense ALPK2 494 82554 0.00598396 41277 5 0.0118502
18-56246438-CCTTTCCCCCCACTCTCTTGTCAGCTGCCGTCTCCCAACACTGGCTCATCCCTGAGTT-C p.Asn505_Lys523del conservative_inframe_deletion ALPK2 1 82562 1.21121E-5 41281 0 3.18634E-5
18-56246438-C-G p.Asp524His missense ALPK2 5 82562 6.05605E-5 41281 0 1.07098E-4
18-56246441-T-TC p.Lys523fs frameshift ALPK2 1 82504 1.21206E-5 41252 0 7.41473E-5
18-56246442-T-C p.Gly522Gly synonymous ALPK2 28643 82080 0.348964 41040 5346 0.4575
18-56246446-C-T p.Gly521Glu missense ALPK2 1 82510 1.21197E-5 41255 0 NA
18-56246447-C-A p.Gly521Trp missense ALPK2 3 82506 3.6361E-5 41253 0 5.98019E-5
18-56246447-C-G p.Gly521Arg missense ALPK2 1 82506 1.21203E-5 41253 0 NA
18-56246448-C-G p.Val520Val synonymous ALPK2 9 82498 1.09094E-4 41249 0 4.94291E-5
18-56246448-C-A p.Val520Val synonymous ALPK2 1 82498 1.21215E-5 41249 0 3.18492E-5
18-56246450-C-T p.Val520Met missense ALPK2 277 82492 0.0033579 41246 1 0.00535168
18-56246454-CTT-C p.Lys518fs frameshift ALPK2 3 82500 3.63636E-5 41250 0 6.36983E-5
18-56246461-G-A p.Ala516Val missense ALPK2 14 82426 1.69849E-4 41213 1 1.15649E-4
18-56246467-G-A p.Thr514Met missense ALPK2 8 82374 9.7118E-5 41187 0 6.37674E-5
18-56246471-C-G p.Glu513Gln missense ALPK2 1 82408 1.21347E-5 41204 0 NA
18-56246484-C-T p.Met508Ile missense ALPK2 1 82388 1.21377E-5 41194 0 NA
18-56246487-C-T p.Gly507Gly synonymous ALPK2 2 82422 2.42654E-5 41211 0 1.64756E-5
18-56246493-G-A p.Asn505Asn synonymous ALPK2 1 82428 1.21318E-5 41214 0 9.88566E-5
18-56246501-A-G p.Ser503Pro missense ALPK2 1 82396 1.21365E-5 41198 0 NA
18-56246510-A-T p.Ser500Thr missense ALPK2 2 82466 2.42524E-5 41233 0 1.64758E-5
18-56246522-T-A p.Met496Leu missense ALPK2 2 82588 2.42166E-5 41294 0 8.2375E-6
18-56246531-C-T p.Glu493Lys missense ALPK2 1 82650 1.20992E-5 41325 0 9.16298E-5
18-56246548-A-C p.Met487Arg missense ALPK2 23 82768 2.77885E-4 41384 0 0.0025
18-56246549-T-C p.Met487Val missense ALPK2 5 82774 6.04054E-5 41387 0 9.55475E-5
18-56246559-A-G p.Asn483Asn synonymous ALPK2 1 82816 1.2075E-5 41408 0 0.00100705
18-56246584-GC-TT p.Ala475Lys missense ALPK2 3 82894 3.61908E-5 41447 0 NA
18-56246593-C-G p.Ser472Thr missense ALPK2 4 82942 4.82265E-5 41471 0 NA
18-56246638-G-A p.Ala457Val missense ALPK2 4 83006 4.81893E-5 41503 0 1.59307E-4
18-56246639-C-A p.Ala457Ser missense ALPK2 20 82996 2.40975E-4 41498 0 0.00125
18-56246642-C-T p.Glu456Lys missense ALPK2 3 83014 3.61385E-5 41507 0 2.78638E-5
18-56246643-G-A p.Pro455Pro synonymous ALPK2 1 83012 1.20465E-5 41506 0 3.18796E-5
18-56246646-A-G p.Ala454Ala synonymous ALPK2 2 83008 2.40941E-5 41504 0 7.96058E-6
18-56246648-C-G p.Ala454Pro missense ALPK2 2 83014 2.40923E-5 41507 0 3.18613E-5
18-56246649-A-G p.Thr453Thr synonymous ALPK2 1 83018 1.20456E-5 41509 0 3.18552E-5
18-56246660-T-C p.Lys450Glu missense ALPK2 2 83022 2.409E-5 41511 0 1.19386E-5
18-56246662-T-A p.Tyr449Phe missense ALPK2 1 83024 1.20447E-5 41512 0 1.64739E-5
18-56246668-C-T p.Gly447Glu missense ALPK2 1 83024 1.20447E-5 41512 0 9.56023E-5
18-56246682-T-G p.Ser442Ser synonymous ALPK2 1104 83018 0.0132983 41509 20 0.031875
18-56246689-G-A p.Thr440Met missense ALPK2 2 82968 2.41057E-5 41484 0 8.23723E-5
18-56246699-G-A p.Gln437* stop_gained ALPK2 1 82944 1.20563E-5 41472 0 NA
18-56246700-G-T p.His436Gln missense ALPK2 2 82924 2.41185E-5 41462 0 1.6475E-5
18-56246700-G-C p.His436Gln missense ALPK2 2 82924 2.41185E-5 41462 0 NA
18-56246712-AAT-A p.Ile432fs frameshift ALPK2 2 82920 2.41196E-5 41460 0 1.64756E-5
18-56246715-G-C p.Leu431Leu synonymous ALPK2 2 82932 2.41161E-5 41466 0 1.64761E-5
18-56246745-A-G p.Gly421Gly synonymous ALPK2 1 82914 1.20607E-5 41457 0 NA
18-56246747-C-T p.Gly421Ser missense ALPK2 7 82910 8.44289E-5 41455 0 1.59479E-4
18-56246748-G-A p.His420His synonymous ALPK2 212 82908 0.00255705 41454 3 0.00654582
18-56246750-G-A p.His420Tyr missense ALPK2 1 82908 1.20616E-5 41454 0 3.18837E-5
18-56246766-G-T p.Ser414Arg missense ALPK2 1 82880 1.20656E-5 41440 0 3.18674E-5
18-56246774-C-T p.Val412Met missense ALPK2 2 82866 2.41354E-5 41433 0 7.9701E-6
18-56246784-T-C p.Gln408Gln synonymous ALPK2 2 82912 2.4122E-5 41456 0 5.03525E-4
18-56246804-C-A p.Gly402Cys missense ALPK2 2 82912 2.4122E-5 41456 0 1.6487E-5
18-56246813-C-T p.Gly399Ser missense ALPK2 1 82968 1.20528E-5 41484 0 NA
18-56246815-G-T p.Ala398Asp missense ALPK2 5 82950 6.02773E-5 41475 0 1.19595E-5
18-56246815-G-A p.Ala398Val missense ALPK2 1 82950 1.20555E-5 41475 0 NA
18-56246818-G-A p.Thr397Ile missense ALPK2 1921 82918 0.0231675 41459 26 0.030715
18-56246832-C-A p.Gly392Gly synonymous ALPK2 2 82974 2.41039E-5 41487 0 1.6488E-5
18-56246833-C-G p.Gly392Ala missense ALPK2 2 83006 2.40946E-5 41503 0 1.6487E-5
18-56246837-C-T p.Ala391Thr missense ALPK2 3 82982 3.61524E-5 41491 0 5.03525E-4
18-56246838-G-A p.Asp390Asp synonymous ALPK2 36 83014 4.33662E-4 41507 0 0.00115133
18-56246843-C-T p.Gly389Ser missense ALPK2 4 83054 4.81614E-5 41527 0 3.1902E-5
18-56246844-C-T p.Ser388Ser synonymous ALPK2 27 83058 3.25074E-4 41529 0 0.00151057
18-56246845-G-A p.Ser388Leu missense ALPK2 49 83052 5.89992E-4 41526 0 0.00124457
18-56246847-C-G p.Val387Val synonymous ALPK2 1 83068 1.20383E-5 41534 0 3.98241E-6
18-56246851-C-T p.Arg386Gln missense ALPK2 1 83106 1.20328E-5 41553 0 1.99133E-5
18-56246852-G-A p.Arg386Trp missense ALPK2 1 83118 1.20311E-5 41559 0 9.56877E-5
18-56246857-C-T p.Gly384Glu missense ALPK2 1 83168 1.20239E-5 41584 0 NA
18-56246866-A-G p.Met381Thr missense ALPK2 38 83236 4.56533E-4 41618 1 0.00375
18-56246891-C-T p.Gly373Arg missense ALPK2 1 83278 1.2008E-5 41639 0 8.24117E-6
18-56246893-C-T p.Gly372Asp missense ALPK2 2 83274 2.40171E-5 41637 0 6.37146E-5
18-56246909-C-T p.Gly367Ser missense ALPK2 1 83278 1.2008E-5 41639 0 3.58189E-5
18-56246910-G-A p.Phe366Phe synonymous ALPK2 1 83280 1.20077E-5 41640 0 2.47227E-5
18-56246917-A-G p.Met364Thr missense ALPK2 4 83280 4.80307E-5 41640 0 1.19393E-5
18-56246925-G-A p.Asp361Asp synonymous ALPK2 8 83282 9.60592E-5 41641 0 6.37796E-5
18-56246928-A-G p.Asp360Asp synonymous ALPK2 1 83288 1.20065E-5 41644 0 3.18654E-5
18-56246930-C-T p.Asp360Asn missense ALPK2 77 83288 9.24503E-4 41644 0 0.00133809
18-56246933-T-C p.Ser359Gly missense ALPK2 1 83284 1.20071E-5 41642 0 3.98013E-6
18-56246940-T-TA p.Leu356fs frameshift ALPK2 3 83274 3.60256E-5 41637 0 3.18837E-5
18-56246947-A-T p.Val354Asp missense ALPK2 11 83250 1.32132E-4 41625 0 4.1197E-5
18-56246950-T-C p.His353Arg missense ALPK2 4 83240 4.80538E-5 41620 0 NA
18-56246959-C-G p.Gly350Ala missense ALPK2 1 83192 1.20204E-5 41596 0 3.98023E-6
18-56246960-C-G p.Gly350Arg missense ALPK2 1 83190 1.20207E-5 41595 0 NA
18-56246976-C-A p.Trp344Cys missense ALPK2 1 83154 1.20259E-5 41577 0 NA
18-56246991-G-T p.Tyr339* stop_gained ALPK2 1 83134 1.20288E-5 41567 0 NA
18-56246997-C-T p.Thr337Thr synonymous ALPK2 14 83142 1.68387E-4 41571 0 6.25E-4
18-56246998-G-A p.Thr337Met missense ALPK2 20 83148 2.40535E-4 41574 0 5.03525E-4
18-56247006-A-G p.Asp334Asp synonymous ALPK2 2 83174 2.4046E-5 41587 0 2.47109E-5
18-56247008-C-G p.Asp334His missense ALPK2 1 83182 1.20218E-5 41591 0 8.23696E-6
18-56247012-A-G p.Cys332Cys synonymous ALPK2 4 83188 4.80839E-5 41594 0 3.97947E-6
18-56247013-C-T p.Cys332Tyr missense ALPK2 1 83190 1.20207E-5 41595 0 NA
18-56247025-T-C p.Glu328Gly missense ALPK2 1 83240 1.20135E-5 41620 0 3.29478E-5
18-56247026-C-G p.Glu328Gln missense ALPK2 1 83248 1.20123E-5 41624 0 3.97928E-6
18-56247041-A-AAAACTCCTC p.Phe322_Ser323insGluGluPhe conservative_inframe_insertion ALPK2 2 83276 2.40165E-5 41638 0 1.27389E-4
18-56247050-C-T p.Glu320Lys missense ALPK2 14 83292 1.68083E-4 41646 0 4.77859E-4
18-56247051-G-A p.Thr319Thr synonymous ALPK2 2 83290 2.40125E-5 41645 0 1.19367E-5
18-56247052-G-C p.Thr319Ser missense ALPK2 1 83304 1.20042E-5 41652 0 6.25E-4
18-56247053-T-G p.Thr319Pro missense ALPK2 5 83308 6.00182E-5 41654 0 1.91217E-4
18-56247056-AGGTTAG-A p.Leu316_Thr317del conservative_inframe_deletion ALPK2 71 83312 8.52218E-4 41656 1 9.55414E-4
18-56247057-G-C p.Thr317Thr synonymous ALPK2 1 83320 1.20019E-5 41660 0 3.97839E-6
18-56247063-G-T p.Thr315Thr synonymous ALPK2 1 83342 1.19988E-5 41671 0 NA
18-56247064-G-A p.Thr315Ile missense ALPK2 1 83342 1.19988E-5 41671 0 NA
18-56247069-C-A p.Glu313Asp missense ALPK2 2 83346 2.39964E-5 41673 0 3.97779E-6
18-56247099-G-T p.Asp303Glu missense ALPK2 1 83340 1.1999E-5 41670 0 NA
18-56247116-G-A p.Gln298* stop_gained ALPK2 7 83322 8.40114E-5 41661 0 9.55597E-5
18-56247128-G-A p.Gln294* stop_gained ALPK2 2 83302 2.4009E-5 41651 0 2.78467E-5
18-56247132-G-T p.Asn292Lys missense ALPK2 1 83310 1.20034E-5 41655 0 8.23886E-6
18-56247140-C-T p.Val290Met missense ALPK2 7 83296 8.40377E-5 41648 0 5.17252E-5
18-56247141-G-A p.Ala289Ala synonymous ALPK2 2 83292 2.40119E-5 41646 0 3.18304E-5
18-56247145-C-T p.Ser288Asn missense ALPK2 4 83292 4.80238E-5 41646 0 9.55414E-5
18-56247152-C-A p.Gly286Cys missense ALPK2 61 83294 7.32346E-4 41647 0 6.36983E-4
18-56247161-T-C p.Ile283Val missense ALPK2 1 83306 1.20039E-5 41653 0 NA
18-56247162-G-A p.His282His synonymous ALPK2 5 83304 6.00211E-5 41652 0 3.97804E-6
18-56247163-T-G p.His282Pro missense ALPK2 1 83302 1.20045E-5 41651 0 NA
18-56247178-G-C p.Ser277Cys missense ALPK2 1 83292 1.2006E-5 41646 0 3.97804E-6
18-56247180-T-C p.Leu276Leu synonymous ALPK2 41162 83102 0.495319 41551 10273 0.56625
18-56247180-T-G p.Leu276Leu synonymous ALPK2 2 83296 2.40108E-5 41648 0 8.24239E-6
18-56247183-C-T p.Pro275Pro synonymous ALPK2 6 83286 7.20409E-5 41643 0 3.18532E-5
18-56247184-G-C p.Pro275Arg missense ALPK2 1 83304 1.20042E-5 41652 0 NA
18-56247186-G-A p.Leu274Leu synonymous ALPK2 1 83306 1.20039E-5 41653 0 NA
18-56247209-G-A p.Gln267* stop_gained ALPK2 1 83308 1.20036E-5 41654 0 5.03525E-4
18-56247215-T-C p.Lys265Glu missense ALPK2 1 83316 1.20025E-5 41658 0 5.03525E-4
18-56247221-T-C p.Asn263Asp missense ALPK2 1 83324 1.20013E-5 41662 0 NA
18-56247235-C-T p.Arg258His missense ALPK2 5 83324 6.00067E-5 41662 0 7.41302E-5
18-56247236-G-A p.Arg258Cys missense ALPK2 4 83330 4.80019E-5 41665