Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
11-82904795-G-A c.-918G>A 5_prime_UTR_premature_start_codon_gain ANKRD42 1 49584 2.01678E-5 24792 0 NA
11-82904806-C-T c.-907C>T 5_prime_UTR_premature_start_codon_gain ANKRD42 18 49538 3.63357E-4 24769 0 4.2517E-4
11-82904897-C-T c.-816C>T 5_prime_UTR_premature_start_codon_gain ANKRD42 20 49740 4.02091E-4 24870 0 0.00108369
11-82904900-C-T c.-813C>T 5_prime_UTR_premature_start_codon_gain ANKRD42 1 49754 2.00989E-5 24877 0 NA
11-82904926-A-G c.-787A>G 5_prime_UTR_premature_start_codon_gain ANKRD42 2 49844 4.01252E-5 24922 0 NA
11-82904938-C-T c.-775C>T 5_prime_UTR_premature_start_codon_gain ANKRD42 3 49846 6.01854E-5 24923 0 1.12178E-4
11-82904972-A-G c.-741A>G 5_prime_UTR_premature_start_codon_gain ANKRD42 1 49858 2.0057E-5 24929 0 NA
11-82905081-G-T c.-632G>T 5_prime_UTR_premature_start_codon_gain ANKRD42 1 51942 1.92522E-5 25971 0 8.1248E-5
11-82905113-A-G c.-600A>G 5_prime_UTR_premature_start_codon_gain ANKRD42 1 52582 1.90179E-5 26291 0 2.97646E-5
11-82905199-C-T c.-514C>T 5_prime_UTR_premature_start_codon_gain ANKRD42 1 52810 1.89358E-5 26405 0 6.37024E-5
11-82905210-G-C c.-503G>C 5_prime_UTR_premature_start_codon_gain ANKRD42 1 52818 1.89329E-5 26409 0 NA
11-82905235-C-T c.-478C>T 5_prime_UTR_premature_start_codon_gain ANKRD42 1 52802 1.89387E-5 26401 0 3.18552E-5
11-82905263-C-T c.-450C>T 5_prime_UTR_premature_start_codon_gain ANKRD42 370 52806 0.00700678 26403 4 0.0134773
11-82905390-G-A c.-323G>A 5_prime_UTR_premature_start_codon_gain ANKRD42 1 54220 1.84434E-5 27110 0 NA
11-82905446-G-T c.-267G>T 5_prime_UTR_premature_start_codon_gain ANKRD42 2 59590 3.35627E-5 29795 0 7.91766E-5
11-82905528-G-A c.-185G>A 5_prime_UTR_premature_start_codon_gain ANKRD42 2 68792 2.90731E-5 34396 0 7.03433E-5
11-82905579-T-C c.-134T>C 5_prime_UTR_premature_start_codon_gain ANKRD42 11 76782 1.43263E-4 38391 0 6.25E-4
11-82905622-C-T c.-91C>T 5_prime_UTR_premature_start_codon_gain ANKRD42 1 80364 1.24434E-5 40182 0 NA
11-82905633-C-T c.-80C>T 5_prime_UTR_premature_start_codon_gain ANKRD42 7 80708 8.67324E-5 40354 0 2.23044E-4
11-82905648-G-A c.-65G>A 5_prime_UTR_premature_start_codon_gain ANKRD42 3 80708 3.7171E-5 40354 0 6.37186E-5
11-82905716-C-T p.Pro2Ser missense ANKRD42 1 82714 1.20899E-5 41357 0 8.32806E-6
11-82905719-G-A p.Gly3Arg missense ANKRD42 3 82714 3.62696E-5 41357 0 3.18573E-5
11-82905721-G-C p.Gly3Gly synonymous ANKRD42 2 82744 2.41709E-5 41372 0 3.18593E-5
11-82905729-A-G p.Asn6Ser missense ANKRD42 1 82802 1.2077E-5 41401 0 3.18654E-5
11-82905759-C-T p.Thr16Ile missense ANKRD42 1 82796 1.20779E-5 41398 0 8.58797E-6
11-82905761-G-A p.Ala17Thr missense ANKRD42 3 82782 3.62398E-5 41391 0 1.69479E-5
11-82905767-C-G p.Pro19Ala missense ANKRD42 1 82756 1.20837E-5 41378 0 NA
11-82905769-C-G p.Pro19Pro splice_region+synonymous ANKRD42 1 82724 1.20884E-5 41362 0 4.34341E-6
11-82905772-T-TTCCAGGAAGAAGGTGCATTTTGGCAGCATACATGATGCAGTAC c.58+2_58+3insTCCAGGAAGAAGGTGCATTTTGGCAGCATACATGATGCAGTAC splice_region ANKRD42 4 82678 4.83805E-5 41339 2 NA
11-82905772-T-TTCCA c.58+2_58+3insTCCA splice_region ANKRD42 1 82680 1.20948E-5 41340 0 NA
11-82905772-T-C c.58+2T>C splice_donor ANKRD42 1 82680 1.20948E-5 41340 0 8.68146E-6
11-82905777-C-T c.58+7C>T splice_region ANKRD42 1 82606 1.21057E-5 41303 0 5.22612E-5
11-82909517-A-G c.59-4A>G splice_region ANKRD42 5 83172 6.01164E-5 41586 0 0.00125
11-82909551-T-C p.Ile30Thr missense ANKRD42 1 83318 1.20022E-5 41659 0 1.65429E-5
11-82909552-A-G p.Ile30Met missense ANKRD42 1 83318 1.20022E-5 41659 0 1.91168E-4
11-82909552-AC-A p.His31fs frameshift ANKRD42 1 83318 1.20022E-5 41659 0 NA
11-82909554-A-G p.His31Arg missense ANKRD42 1 83318 1.20022E-5 41659 0 3.18715E-5
11-82909560-C-T p.Ala33Val missense ANKRD42 1 83314 1.20028E-5 41657 0 3.97997E-6
11-82909565-C-T p.Arg35* stop_gained ANKRD42 1 83318 1.20022E-5 41659 0 1.59158E-5
11-82909566-G-A p.Arg35Gln missense ANKRD42 1 83314 1.20028E-5 41657 0 NA
11-82909568-G-C p.Ala36Pro missense ANKRD42 2 83326 2.40021E-5 41663 0 NA
11-82909575-A-T p.Asp38Val missense ANKRD42 2 83330 2.4001E-5 41665 0 NA
11-82909577-G-A p.Val39Ile missense ANKRD42 1 83334 1.19999E-5 41667 0 NA
11-82909594-A-G p.Glu44Glu synonymous ANKRD42 1 83340 1.1999E-5 41670 0 NA
11-82909595-A-G p.Ile45Val missense ANKRD42 2 83340 2.39981E-5 41670 0 8.4763E-6
11-82909597-A-G p.Ile45Met missense ANKRD42 7 83342 8.39913E-5 41671 0 3.50296E-4
11-82909604-C-T p.Arg48Cys missense ANKRD42 3 83304 3.60127E-5 41652 0 1.98721E-4
11-82909605-G-A p.Arg48His missense ANKRD42 1 83300 1.20048E-5 41650 0 1.73244E-5
11-82909616-A-G p.Ile52Val missense ANKRD42 1 83318 1.20022E-5 41659 0 3.98877E-6
11-82909647-C-T p.Thr62Ile missense ANKRD42 1 83258 1.20109E-5 41629 0 6.25E-4
11-82909659-G-T p.Trp66Leu missense ANKRD42 1 83234 1.20143E-5 41617 0 NA
11-82909670-T-C p.Ser70Pro missense ANKRD42 1 83202 1.20189E-5 41601 0 NA
11-82909671-C-G p.Ser70Cys missense ANKRD42 1 83208 1.20181E-5 41604 0 NA
11-82909677-G-T p.Ser72Ile missense ANKRD42 40 83170 4.80943E-4 41585 0 5.10185E-4
11-82909685-G-T c.222+1G>T splice_donor ANKRD42 4 83084 4.8144E-5 41542 0 0.00125
11-82909689-G-A c.222+5G>A splice_region ANKRD42 9 83050 1.08368E-4 41525 0 3.73118E-4
11-82917099-G-C c.223-1G>C splice_acceptor ANKRD42 1 83010 1.20467E-5 41505 0 NA
11-82917103-C-G p.Leu76Val missense ANKRD42 1 83068 1.20383E-5 41534 0 3.18431E-5
11-82917104-T-G p.Leu76Arg missense ANKRD42 1 83078 1.20369E-5 41539 0 2.47406E-5
11-82917107-A-T p.His77Leu missense ANKRD42 1 83096 1.20343E-5 41548 0 2.47525E-5
11-82917108-T-C c.-109T>C 5_prime_UTR_premature_start_codon_gain ANKRD42 1 83090 1.20351E-5 41545 0 3.18492E-5
11-82917115-C-T p.Leu80Phe missense ANKRD42 1 83122 1.20305E-5 41561 0 1.73142E-5
11-82917128-C-G p.Ala84Gly missense ANKRD42 1 83176 1.20227E-5 41588 0 8.24022E-6
11-82917137-C-T p.Thr87Ile missense ANKRD42 3 83206 3.60551E-5 41603 0 3.18451E-5
11-82917141-C-T c.-76C>T 5_prime_UTR_premature_start_codon_gain ANKRD42 6 83216 7.21015E-5 41608 0 2.06843E-4
11-82917141-C-G p.His88Gln missense ANKRD42 2 83216 2.40338E-5 41608 0 NA
11-82917142-G-C p.Val89Leu missense ANKRD42 1 83206 1.20184E-5 41603 0 3.97795E-6
11-82917142-G-T p.Val89Leu missense ANKRD42 1 83206 1.20184E-5 41603 0 3.18471E-5
11-82917143-TAAC-T p.Thr91del disruptive_inframe_deletion ANKRD42 1 83218 1.20166E-5 41609 0 NA
11-82917150-G-A p.Thr91Thr synonymous ANKRD42 38 83222 4.5661E-4 41611 0 0.00101937
11-82917155-G-T p.Gly93Val missense ANKRD42 1 83208 1.20181E-5 41604 0 3.97738E-6
11-82917155-G-A p.Gly93Asp missense ANKRD42 1 83208 1.20181E-5 41604 0 NA
11-82917162-A-G p.Thr95Thr synonymous ANKRD42 1 83202 1.20189E-5 41601 0 7.95494E-6
11-82917167-C-G p.Ser97Cys missense ANKRD42 3 83194 3.60603E-5 41597 0 NA
11-82917169-C-A p.His98Asn missense ANKRD42 1 83188 1.2021E-5 41594 0 NA
11-82917183-C-G p.Ile102Met missense ANKRD42 2 83174 2.4046E-5 41587 0 8.24063E-6
11-82917183-CAG-C p.Arg103fs frameshift ANKRD42 11 83174 1.32253E-4 41587 0 6.76267E-5
11-82917193-G-A p.Asp106Asn missense ANKRD42 1 83118 1.20311E-5 41559 0 3.9788E-6
11-82917197-C-T p.Ala107Val missense ANKRD42 1 83084 1.2036E-5 41542 0 NA
11-82917207-G-T p.Gln110His missense+splice_region ANKRD42 1 82946 1.2056E-5 41473 0 4.00818E-6
11-82917208-GTAA-G c.330+2_330+4delTAA splice_donor ANKRD42 1 82912 1.2061E-5 41456 0 3.18613E-5
11-82921340-A-G c.331-2A>G splice_acceptor ANKRD42 1 83206 1.20184E-5 41603 0 1.59357E-4
11-82921349-T-C p.Ile113Thr missense ANKRD42 3 83236 3.60421E-5 41618 0 8.24131E-5
11-82921356-TG-T p.Gly116fs frameshift ANKRD42 1 83256 1.20111E-5 41628 0 NA
11-82921359-A-G p.Gly116Gly synonymous ANKRD42 1 83258 1.20109E-5 41629 0 NA
11-82921361-C-A p.Ala117Glu missense ANKRD42 1 83262 1.20103E-5 41631 0 NA
11-82921384-C-T p.Arg125Trp missense ANKRD42 1 83280 1.20077E-5 41640 0 3.18695E-5
11-82921385-G-A p.Arg125Gln missense ANKRD42 1 83286 1.20068E-5 41643 0 3.97687E-6
11-82921389-A-T p.Gly126Gly synonymous ANKRD42 4 83298 4.80204E-5 41649 0 3.18552E-5
11-82921394-C-G p.Thr128Ser missense ANKRD42 1 83306 1.20039E-5 41653 0 0.00125
11-82921396-C-G p.Pro129Ala missense ANKRD42 1 83306 1.20039E-5 41653 0 2.47105E-5
11-82921406-T-G p.Leu132Arg missense ANKRD42 37 83320 4.44071E-4 41660 0 9.55353E-4
11-82921408-G-A p.Ala133Thr missense ANKRD42 2 83320 2.40038E-5 41660 0 3.97684E-6
11-82921417-C-T p.His136Tyr missense ANKRD42 1 83320 1.20019E-5 41660 0 NA
11-82921418-A-G p.His136Arg missense ANKRD42 1 83318 1.20022E-5 41659 0 NA
11-82921441-A-G p.Ile144Val missense ANKRD42 6 83320 7.20115E-5 41660 0 2.14161E-4
11-82921443-A-G p.Ile144Met missense ANKRD42 6 83318 7.20133E-5 41659 0 3.97693E-6
11-82921448-T-G p.Leu146Arg missense ANKRD42 1 83304 1.20042E-5 41652 0 NA
11-82921450-C-T p.Arg147* stop_gained ANKRD42 5 83296 6.00269E-5 41648 0 1.23294E-4
11-82921450-C-G p.Arg147Gly missense ANKRD42 1 83296 1.20054E-5 41648 0 NA
11-82921451-G-A p.Arg147Gln missense ANKRD42 1 83288 1.20065E-5 41644 0 8.23723E-6
11-82921466-G-A c.447+8G>A splice_region ANKRD42 1 83258 1.20109E-5 41629 0 1.64769E-5
11-82922334-T-C c.448-3T>C splice_region ANKRD42 1 83288 1.20065E-5 41644 0 NA
11-82922343-AG-A p.Ser152fs frameshift ANKRD42 1 83344 1.19985E-5 41672 0 NA
11-82922360-A-G p.Arg157Arg synonymous ANKRD42 1 83380 1.19933E-5 41690 0 1.64728E-5
11-82922362-A-C p.Glu158Ala missense ANKRD42 2 83382 2.3986E-5 41691 0 NA
11-82922362-AATGGAGACCTGTGCATT-A p.Trp159fs frameshift ANKRD42 1 83382 1.1993E-5 41691 0 NA
11-82922372-T-C p.Pro161Pro synonymous ANKRD42 1 83390 1.19918E-5 41695 0 3.97636E-6
11-82922396-G-T p.Gly169Gly synonymous ANKRD42 1 83390 1.19918E-5 41695 0 NA
11-82922397-C-T p.Arg170Trp missense ANKRD42 4 83390 4.79674E-5 41695 0 7.95273E-6
11-82922398-G-A p.Arg170Gln missense ANKRD42 1 83384 1.19927E-5 41692 0 3.97633E-6
11-82922401-T-C p.Leu171Pro missense ANKRD42 1 83384 1.19927E-5 41692 0 NA
11-82922407-G-C p.Cys173Ser missense ANKRD42 1 83386 1.19924E-5 41693 0 8.23655E-6
11-82922424-A-C p.Lys179Gln missense ANKRD42 1 83390 1.19918E-5 41695 0 NA
11-82922429-G-C p.Trp180Cys missense ANKRD42 1 83384 1.19927E-5 41692 0 6.37146E-5
11-82922440-T-C p.Ile184Thr missense ANKRD42 1 83386 1.19924E-5 41693 0 3.18471E-5
11-82922453-C-T p.Asp188Asp synonymous ANKRD42 1 83360 1.19962E-5 41680 0 8.23886E-6
11-82922457-A-G p.Asn190Asp missense ANKRD42 2 83354 2.3994E-5 41677 0 8.24022E-6
11-82922458-A-G p.Asn190Ser missense ANKRD42 2 83342 2.39975E-5 41671 0 3.18451E-5
11-82922469-C-A p.Pro194Thr missense ANKRD42 1 83314 1.20028E-5 41657 0 1.59408E-4
11-82922479-T-G c.583+7T>G splice_region ANKRD42 2 83244 2.40258E-5 41622 0 1.66789E-5
11-82923695-A-G p.Glu196Gly missense+splice_region ANKRD42 1 76394 1.309E-5 38197 0 7.42501E-6
11-82924016-C-T c.587-5C>T splice_region ANKRD42 3 72446 4.14102E-5 36223 0 4.87001E-5
11-82924017-G-A c.587-4G>A splice_region ANKRD42 2 72462 2.76007E-5 36231 0 8.5883E-5
11-82924031-T-C p.His199His synonymous ANKRD42 10 73032 1.36926E-4 36516 1 3.5046E-4
11-82924032-C-T p.Leu200Phe missense ANKRD42 3 73084 4.10487E-5 36542 0 8.62389E-5
11-82924032-C-G p.Leu200Val missense ANKRD42 1 73084 1.36829E-5 36542 0 9.6903E-6
11-82924038-C-T p.Leu202Phe missense ANKRD42 1 73254 1.36511E-5 36627 0 NA
11-82924047-A-G p.Met205Val missense ANKRD42 2 73480 2.72183E-5 36740 0 3.20102E-5
11-82924058-C-A p.Leu208Leu synonymous ANKRD42 1 73576 1.35914E-5 36788 0 NA
11-82924063-C-A p.Pro210His missense ANKRD42 1 73618 1.35836E-5 36809 0 NA
11-82924067-T-C p.Leu211Leu synonymous ANKRD42 2 73622 2.71658E-5 36811 0 2.56314E-5
11-82924078-G-A p.Arg215Lys missense ANKRD42 1 73682 1.35718E-5 36841 0 NA
11-82924079-G-A p.Arg215Arg synonymous ANKRD42 78 73632 0.00105932 36816 0 0.00112799
11-82924098-AAG-A p.Lys223fs frameshift ANKRD42 1 73712 1.35663E-5 36856 0 NA
11-82924106-C-A p.Phe224Leu missense ANKRD42 2 73736 2.71238E-5 36868 0 NA
11-82924110-C-T p.Arg226Trp missense ANKRD42 6 73642 8.14752E-5 36821 0 9.80835E-5
11-82924117-AGACT-A p.Asp230fs frameshift ANKRD42 1 73754 1.35586E-5 36877 0 1.75843E-5
11-82924120-C-T p.Thr229Ile missense ANKRD42 2 73740 2.71223E-5 36870 0 1.05469E-4
11-82924122-G-C p.Asp230His missense ANKRD42 1 73786 1.35527E-5 36893 0 3.19061E-5
11-82935912-T-C p.Met200Thr missense ANKRD42 2 82686 2.41879E-5 41343 0 NA
11-82935926-C-G p.His205Asp missense ANKRD42 1 82948 1.20557E-5 41474 0 4.00821E-6
11-82935936-A-G p.Lys208Arg missense ANKRD42 1 83026 1.20444E-5 41513 0 NA
11-82935938-TTCCTAGTCA-T p.Phe209_Ser212delinsCys disruptive_inframe_deletion ANKRD42 1 83120 1.20308E-5 41560 0 NA
11-82935938-T-C p.Phe209Leu missense ANKRD42 1 83120 1.20308E-5 41560 0 NA
11-82935949-T-A p.Ser212Arg missense ANKRD42 1 83206 1.20184E-5 41603 0 NA
11-82935963-C-T p.Ala217Val missense ANKRD42 694 83314 0.00832993 41657 20 0.0174734
11-82935966-C-T p.Thr218Met missense ANKRD42 24 83306 2.88094E-4 41653 0 6.25E-4
11-82935967-G-A p.Thr218Thr synonymous ANKRD42 3 83298 3.60153E-5 41649 0 6.59283E-5
11-82935979-A-C p.Lys222Asn missense ANKRD42 1 83320 1.20019E-5 41660 0 2.47235E-5
11-82935983-T-C p.Phe224Leu missense ANKRD42 2 83318 2.40044E-5 41659 0 NA
11-82935984-T-C p.Phe224Ser missense ANKRD42 1 83310 1.20034E-5 41655 0 3.97833E-5
11-82935986-A-G p.Asn225Asp missense ANKRD42 309 83300 0.00370948 41650 1 0.00313905
11-82935987-A-G p.Asn225Ser missense ANKRD42 8 83298 9.60407E-5 41649 0 5.03525E-4
11-82936008-T-G p.Leu232Arg missense ANKRD42 1 83250 1.2012E-5 41625 0 NA
11-82936009-G-A p.Leu232Leu synonymous ANKRD42 1 83256 1.20111E-5 41628 0 NA
11-82936010-G-A p.Asp233Asn missense ANKRD42 1 83248 1.20123E-5 41624 0 5.9673E-5
11-82936010-G-C p.Asp233His missense ANKRD42 1 83248 1.20123E-5 41624 0 8.24484E-6
11-82936011-A-C p.Asp233Ala missense ANKRD42 2 83246 2.40252E-5 41623 0 3.18715E-5
11-82936017-C-T p.Ala235Val missense ANKRD42 7 83228 8.41063E-5 41614 0 1.59368E-4
11-82936030-C-T p.Phe239Phe synonymous ANKRD42 1 83218 1.20166E-5 41609 0 NA
11-82936046-C-A p.Gln245Lys missense ANKRD42 44 83130 5.29291E-4 41565 1 2.97437E-4
11-82936046-C-T p.Gln245* stop_gained ANKRD42 1 83134 1.20288E-5 41567 0 NA
11-82936056-AG-A p.Ala250fs frameshift ANKRD42 2 83106 2.40657E-5 41553 0 5.7878E-5
11-82936056-A-G p.Gln248Arg missense ANKRD42 2 83106 2.40657E-5 41553 0 3.1904E-5
11-82936060-G-A p.Gly249Gly synonymous ANKRD42 2 83086 2.40714E-5 41543 0 8.27267E-6
11-82936075-A-C p.Gly254Gly synonymous ANKRD42 12 83028 1.4453E-4 41514 0 5.09814E-4
11-82936076-A-G p.Lys255Glu missense ANKRD42 1 83020 1.20453E-5 41510 0 NA
11-82936081-C-T p.Asp256Asp synonymous ANKRD42 1 82996 1.20488E-5 41498 0 NA
11-82936090-T-A p.Asp259Glu missense ANKRD42 16 82906 1.9299E-4 41453 0 0.0025
11-82936095-A-T p.Glu261Val missense+splice_region ANKRD42 1 82886 1.20648E-5 41443 0 3.18552E-5
11-82936097-AGT-A c.784+1_784+2delGT splice_donor ANKRD42 1 82878 1.20659E-5 41439 0 NA
11-82936098-G-T c.784+1G>T splice_donor ANKRD42 1 82842 1.20712E-5 41421 0 8.38434E-6
11-82936101-AG-A c.784+5delG splice_region ANKRD42 1 82804 1.20767E-5 41402 0 NA
11-82936103-T-A c.784+6T>A splice_region ANKRD42 1 82764 1.20825E-5 41382 0 NA
11-82936103-T-C c.784+6T>C splice_region ANKRD42 1 82766 1.20823E-5 41383 0 8.43128E-6
11-82938785-A-G c.785-4A>G splice_region ANKRD42 432 83068 0.00520056 41534 7 0.0106742
11-82938790-T-G p.Thr262Thr splice_region+synonymous ANKRD42 691 83058 0.00831949 41529 19 0.0177389
11-82938795-C-T p.Ala264Val missense ANKRD42 1 83108 1.20325E-5 41554 0 4.08463E-6
11-82938802-A-G p.Pro266Pro synonymous ANKRD42 1 83118 1.20311E-5 41559 0 3.1839E-5
11-82938823-G-C p.Lys273Asn missense ANKRD42 1 83140 1.20279E-5 41570 0 8.25069E-6
11-82938839-C-G p.Leu279Val missense ANKRD42 1 83140 1.20279E-5 41570 0 NA
11-82938858-A-T p.Asp285Val missense ANKRD42 4 83122 4.8122E-5 41561 0 4.12521E-5
11-82938858-A-G p.Asp285Gly missense ANKRD42 1 83122 1.20305E-5 41561 0 8.25042E-6
11-82938859-T-TGG p.Val287fs frameshift ANKRD42 1 83126 1.20299E-5 41563 0 3.18512E-5
11-82938870-A-G p.Asn289Ser missense ANKRD42 10 83106 1.20328E-4 41553 0 6.60807E-5
11-82938881-C-T p.Arg293Cys missense ANKRD42 1 83070 1.2038E-5 41535 0 8.28322E-6
11-82938882-G-A p.Arg293His missense ANKRD42 2 83072 2.40755E-5 41536 0 3.18552E-5
11-82938882-G-GTGCT p.Asp295fs frameshift ANKRD42 1 83072 1.20378E-5 41536 0 4.00885E-6
11-82938882-G-T p.Arg293Leu missense ANKRD42 2 83072 2.40755E-5 41536 0 9.55657E-5
11-82938919-G-A c.910+5G>A splice_region ANKRD42 4 82822 4.82963E-5 41411 0 NA
11-82947442-A-G c.911-4A>G splice_region ANKRD42 2 81898 2.44206E-5 40949 0 3.2039E-5
11-82947458-G-A p.Gly308Asp missense ANKRD42 1 82356 1.21424E-5 41178 0 NA
11-82947464-T-C p.Ile310Thr missense ANKRD42 9 82474 1.09125E-4 41237 0 3.18492E-5
11-82947464-T-A p.Ile310Lys missense ANKRD42 1 82474 1.2125E-5 41237 0 NA
11-82947464-TAG-T p.Glu311fs frameshift ANKRD42 1 82474 1.2125E-5 41237 0 NA
11-82947465-A-G p.Ile310Met missense ANKRD42 1 82500 1.21212E-5 41250 0 NA
11-82947470-G-A p.Cys312Tyr missense ANKRD42 2 82548 2.42283E-5 41274 0 3.18573E-5
11-82947493-G-A p.Gly320Arg missense ANKRD42 2 82810 2.41517E-5 41405 0 1.20739E-5
11-82947496-G-C p.Ala321Pro missense ANKRD42 1 82834 1.20723E-5 41417 0 NA
11-82947501-C-G p.Asp322Glu missense ANKRD42 1 82862 1.20683E-5 41431 0 NA
11-82947502-AG-A p.Ser323fs frameshift ANKRD42 1 82846 1.20706E-5 41423 0 NA
11-82947505-A-T p.Asn324Tyr missense ANKRD42 1 82866 1.20677E-5 41433 0 NA
11-82947513-C-A p.Thr326Thr synonymous ANKRD42 1 82868 1.20674E-5 41434 0 NA
11-82947515-A-G p.Asn327Ser missense ANKRD42 2 82882 2.41307E-5 41441 0 8.06601E-6
11-82947534-C-G p.Pro333Pro synonymous ANKRD42 2 82802 2.4154E-5 41401 0 NA
11-82947547-A-G p.Lys338Glu missense ANKRD42 1 82628 1.21024E-5 41314 0 6.36902E-5
11-82947549-G-A p.Lys338Lys splice_region+synonymous ANKRD42 1 82610 1.21051E-5 41305 0 NA
11-82947557-A-T c.1016+6A>T splice_region ANKRD42 7 82466 8.48835E-5 41233 0 3.87637E-5
11-82951797-A-T c.1017-4A>T splice_region ANKRD42 1 83184 1.20215E-5 41592 0 NA
11-82951801-G-T p.Arg339Ser missense+splice_region ANKRD42 1 83208 1.20181E-5 41604 0 1.65076E-5
11-82951816-A-T p.Ala344Ala synonymous ANKRD42 1 83254 1.20114E-5 41627 0 0.00125313
11-82951819-A-C p.Ala345Ala synonymous ANKRD42 1 83246 1.20126E-5 41623 0 8.24457E-6
11-82951849-T-C p.Tyr355Tyr synonymous ANKRD42 2 83256 2.40223E-5 41628 0 2.78527E-5
11-82951854-T-C p.Ile357Thr missense ANKRD42 1 83248 1.20123E-5 41624 0 1.98969E-5
11-82951861-C-T p.Asp359Asp synonymous ANKRD42 7 83240 8.40942E-5 41620 0 2.86661E-4
11-82951862-G-A p.Glu360Lys missense ANKRD42 5 83242 6.00658E-5 41621 0 7.56201E-5
11-82951862-G-T p.Glu360* stop_gained ANKRD42 1 83242 1.20132E-5 41621 0 NA
11-82951874-G-C p.Asp364His missense ANKRD42 2 83250 2.4024E-5 41625 0 4.37724E-5
11-82951881-A-G p.Asn366Ser missense ANKRD42 1 83234 1.20143E-5 41617 0 NA
11-82951884-A-T p.Asp367Val missense ANKRD42 2 83222 2.40321E-5 41611 0 NA
11-82951905-A-G p.His374Arg missense ANKRD42 1 83194 1.20201E-5 41597 0 2.38779E-5
11-82951922-A-G p.Thr380Ala missense ANKRD42 1 83192 1.20204E-5 41596 0 3.98086E-6
11-82951926-A-T p.Asp381Val missense ANKRD42 1 83180 1.20221E-5 41590 0 NA
11-82951929-C-G p.Ala382Gly missense ANKRD42 105 83154 0.00126272 41577 0 0.00219731
11-82951933-G-A p.Lys383Lys synonymous ANKRD42 1 83172 1.20233E-5 41586 0 NA
11-82951939-T-C p.Asp385Asp synonymous ANKRD42 80 83158 9.62024E-4 41579 0 0.00235639
11-82951949-A-AAG p.Ser389fs frameshift ANKRD42 1 83152 1.20262E-5 41576 0 NA
11-82951950-G-A p.Ser389Asn missense ANKRD42 1 83142 1.20276E-5 41571 0 3.1837E-5
11-82951958-G-T p.Asp392Tyr missense ANKRD42 5 83116 6.01569E-5 41558 0 3.18492E-5
11-82951960-T-TA p.Thr394fs frameshift ANKRD42 3 83122 3.60915E-5 41561 0 NA
11-82951977-G-C c.1192+1G>C splice_donor ANKRD42 2 83056 2.40801E-5 41528 0 6.0498E-4
11-82956551-A-G p.Lys402Glu missense ANKRD42 1 77382 1.29229E-5 38691 0 NA
11-82956551-A-C p.Lys402Gln missense ANKRD42 3 77382 3.87687E-5 38691 0 NA
11-82956559-T-C p.Ile404Ile synonymous ANKRD42 6 77426 7.74934E-5 38713 0 2.24673E-4
11-82956560-G-T p.Val405Leu missense ANKRD42 2 77422 2.58325E-5 38711 0 NA
11-82956574-C-T p.His409His synonymous ANKRD42 3 77456 3.87317E-5 38728 0 3.1837E-5
11-82956577-C-T p.Leu410Leu synonymous ANKRD42 124 77452 0.00160099 38726 0 0.008125
11-82956580-G-T p.Leu411Leu synonymous ANKRD42 879 77452 0.011349 38726 22 0.0168822
11-82956589-C-T p.Ala414Ala synonymous ANKRD42 2 77444 2.58251E-5 38722 0 1.37684E-4
11-82956629-G-A p.Asp428Asn missense ANKRD42 1 77378 1.29236E-5 38689 0 6.25E-4
11-82956650-C-G p.Gln435Glu missense ANKRD42 1 77196 1.2954E-5 38598 0 NA
11-82956658-G-A p.Glu437Glu synonymous ANKRD42 2 77128 2.59309E-5 38564 0 3.6314E-5
11-82956661-T-G p.Ser438Ser synonymous ANKRD42 1 77084 1.29729E-5 38542 0 NA
11-82956663-A-G p.Glu439Gly missense ANKRD42 2 77062 2.59531E-5 38531 0 NA
11-82956669-A-T c.1319+3A>T splice_region ANKRD42 1 76966 1.29928E-5 38483 0 3.18431E-5
11-82956671-T-C c.1319+5T>C splice_region ANKRD42 1 76930 1.29988E-5 38465 0 7.35911E-6
11-82958992-A-G p.Lys443Glu missense ANKRD42 1 82386 1.2138E-5 41193 0 NA
11-82959000-G-A p.Cys376Tyr missense ANKRD42 1 82372 1.214E-5 41186 0 NA
11-82959013-G-T p.Glu450* stop_gained ANKRD42 3 82416 3.64007E-5 41208 0 NA
11-82959022-C-T p.Arg453* stop_gained ANKRD42 7 82518 8.483E-5 41259 0 1.29366E-4
11-82959023-G-A p.Arg453Gln missense ANKRD42 1 82520 1.21183E-5 41260 0 1.731E-5
11-82959028-C-T p.Arg455Cys missense ANKRD42 1 82574 1.21103E-5 41287 0 0.00100705
11-82959029-G-A p.Arg455His missense ANKRD42 8 82594 9.68593E-5 41297 0 0.00100705
11-82959060-A-G p.Glu465Glu synonymous ANKRD42 1 82812 1.20755E-5 41406 0 NA
11-82959064-C-T p.Arg467* stop_gained ANKRD42 2 82816 2.41499E-5 41408 0 3.2594E-5
11-82959065-G-A p.Arg467Gln missense ANKRD42 4 82816 4.82998E-5 41408 0 6.86908E-5
11-82959074-T-C p.Val470Ala missense ANKRD42 2 82822 2.41482E-5 41411 0 NA
11-82959079-C-G p.Gln472Glu missense ANKRD42 1 82798 1.20776E-5 41399 0 NA
11-82959081-A-G p.Gln472Gln synonymous ANKRD42 2 82800 2.41546E-5 41400 0 4.21909E-6
11-82959084-C-T p.Leu473Leu synonymous ANKRD42 1 82764 1.20825E-5 41382 0 3.18715E-5
11-82959097-G-GA p.Ile480fs frameshift ANKRD42 2 82652 2.41978E-5 41326 1 NA
11-82959112-C-A p.Pro483Thr missense ANKRD42 3 82558 3.63381E-5 41279 0 NA
11-82959149-C-G p.Thr496Arg missense ANKRD42 1 82030 1.21907E-5 41015 0 NA
11-82959149-C-T p.Thr496Ile missense ANKRD42 1 82030 1.21907E-5 41015 0 4.20062E-5
11-82959153-T-C p.Phe497Phe synonymous ANKRD42 2 81930 2.44111E-5 40965 0 NA
11-82959168-G-C p.Lys502Asn missense ANKRD42 3 81384 3.68623E-5 40692 0 2.65724E-5
11-82959171-T-C p.Tyr503Tyr synonymous ANKRD42 2 81230 2.46214E-5 40615 0 NA
11-82959176-A-G p.Gln505Arg missense ANKRD42 1 80910 1.23594E-5 40455 0 NA
11-82959180-G-C p.Glu506Asp missense ANKRD42 1 80670 1.23962E-5 40335 0 5.40818E-5
11-82959186-A-G p.Pro508Pro synonymous ANKRD42 1 80334 1.2448E-5 40167 0 NA
11-82959205-T-G p.Trp515Gly missense ANKRD42 2 79244 2.52385E-5 39622 0 7.12565E-6
11-82959209-G-A p.Gly516Asp missense ANKRD42 41 78952 5.19303E-4 39476 0 0.00163843
11-82959210-C-T p.Gly516Gly synonymous ANKRD42 1 78918 1.26714E-5 39459 0 NA
11-82959234-T-C p.Tyr524Tyr synonymous ANKRD42 3 76936 3.89935E-5 38468 0 3.28986E-4
11-82959234-T-G p.Tyr524* stop_gained ANKRD42 1 76936 1.29978E-5 38468 0 NA
11-82959238-C-G p.Leu526Val missense ANKRD42 348 76522 0.00454771 38261 1 0.00477845
11-82966890-G-C c.1468-1G>C splice_acceptor ANKRD42 1 76832 1.30154E-5 38416 0 NA
11-82966895-C-T p.Ala491Val missense ANKRD42 1 76864 1.301E-5 38432 0 NA
11-82966896-G-A p.Ala492Thr missense ANKRD42 173 76888 0.00225003 38444 1 0.0047856
11-82966914-AAAGAG-A p.Lys500fs frameshift ANKRD42 1 77050 1.29786E-5 38525 0 3.18573E-5
11-82966915-A-T p.Lys498* stop_gained ANKRD42 2 77058 2.59545E-5 38529 0 NA
11-82966916-AGAG-A p.Arg499del disruptive_inframe_deletion ANKRD42 1 77068 1.29756E-5 38534 0 7.18701E-5
11-82966917-G-C p.Glu499Gln missense ANKRD42 12 77064 1.55715E-4 38532 0 6.25E-4
11-82966926-C-T p.Arg502* stop_gained ANKRD42 1 77074 1.29745E-5 38537 0 3.32336E-5
11-82966927-G-A p.Arg502Gln missense ANKRD42 2 77088 2.59444E-5 38544 0 6.62076E-5
11-82966930-T-TA p.Val507fs frameshift ANKRD42 144 77078 0.00186824 38539 0 0.00517495
11-82966930-TA-T p.Lys506fs frameshift ANKRD42 1 77070 1.29752E-5 38535 0 0.00139726
11-82966930-T-A p.Ter503Lysext*? stop_lost ANKRD42 3 77088 3.89166E-5 38544 0 5.9002E-5
11-82966937-AAAG-A p.Lys506del conservative_inframe_deletion ANKRD42 1 77102 1.29698E-5 38551 0 NA
11-82966938-A-T p.Lys506* stop_gained ANKRD42 1 77112 1.29682E-5 38556 0 NA
11-82966949-T-C p.Ser509Ser synonymous ANKRD42 1 77058 1.29772E-5 38529 0 NA
11-82966950-G-A p.Gly510Arg missense ANKRD42 17 77058 2.20613E-4 38529 0 3.50788E-4
11-82966951-G-C p.Gly510Ala missense ANKRD42 3 77044 3.89388E-5 38522 0 7.17978E-5
11-82966966-G-A p.Arg515Lys missense ANKRD42 1 76964 1.29931E-5 38482 0 3.18634E-5