Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
2-190541164-C-G c.-53C>G 5_prime_UTR_premature_start_codon_gain ANKAR 1 77212 1.29514E-5 38606 0 NA
2-190541231-C-CA p.Gly8fs frameshift ANKAR 1 80744 1.23848E-5 40372 0 NA
2-190541238-G-T p.Gly8* stop_gained ANKAR 1 81140 1.23244E-5 40570 0 1.25115E-4
2-190541239-G-A p.Gly8Glu missense ANKAR 1 81170 1.23198E-5 40585 0 NA
2-190541266-A-ATT p.Glu18fs frameshift ANKAR 1 81994 1.2196E-5 40997 0 NA
2-190541268-G-GAGC p.Glu18_Asp19insGln disruptive_inframe_insertion ANKAR 1 82072 1.21844E-5 41036 0 NA
2-190541271-G-GT p.Asp19fs frameshift ANKAR 1 82140 1.21743E-5 41070 0 NA
2-190541272-A-T p.Asp19Val missense ANKAR 1 82150 1.21729E-5 41075 0 NA
2-190541274-A-G p.Thr20Ala missense ANKAR 1 82226 1.21616E-5 41113 0 5.21376E-5
2-190541275-C-G p.Thr20Ser missense ANKAR 1 82236 1.21601E-5 41118 0 6.36862E-5
2-190541277-T-TA p.Tyr21fs frameshift ANKAR 2 82250 2.43161E-5 41125 0 NA
2-190541279-C-T p.Tyr21Tyr synonymous ANKAR 1 82296 1.21513E-5 41148 0 NA
2-190541283-GA-G p.Asn24fs frameshift ANKAR 1 82328 1.21465E-5 41164 0 NA
2-190541314-C-CT p.Glu36fs frameshift ANKAR 10 82922 1.20595E-4 41461 0 3.98151E-4
2-190541315-T-C p.Ala33Ala synonymous ANKAR 2 82924 2.41185E-5 41462 0 NA
2-190541329-A-G p.Tyr38Cys missense ANKAR 1 83042 1.20421E-5 41521 0 NA
2-190541330-T-C p.Tyr38Tyr synonymous ANKAR 2 83042 2.40842E-5 41521 0 4.42977E-5
2-190541337-A-C p.Ser41Arg missense ANKAR 2 83096 2.40685E-5 41548 0 3.1841E-5
2-190541338-G-A p.Ser41Asn missense ANKAR 1 83100 1.20337E-5 41550 0 NA
2-190541344-T-A p.Ile43Lys missense ANKAR 2 83160 2.405E-5 41580 0 NA
2-190541345-A-G p.Ile43Met missense ANKAR 1 83162 1.20247E-5 41581 0 NA
2-190541354-A-G c.-571A>G 5_prime_UTR_premature_start_codon_gain ANKAR 1 83180 1.20221E-5 41590 0 NA
2-190541367-C-A p.Leu51Ile missense ANKAR 1 83234 1.20143E-5 41617 0 NA
2-190541394-G-A p.Asp60Asn missense ANKAR 1 83254 1.20114E-5 41627 0 5.03525E-4
2-190541394-G-C p.Asp60His missense ANKAR 1 83254 1.20114E-5 41627 0 NA
2-190541400-C-T p.Arg62Cys missense ANKAR 15 83244 1.80193E-4 41622 0 5.03525E-4
2-190541401-G-A p.Arg62His missense ANKAR 1 83246 1.20126E-5 41623 0 2.48554E-5
2-190541401-G-C p.Arg62Pro missense ANKAR 2 83246 2.40252E-5 41623 0 3.51026E-4
2-190541408-A-G p.Gln64Gln synonymous ANKAR 2 83252 2.40234E-5 41626 0 NA
2-190541410-T-A p.Val65Glu missense ANKAR 1 83250 1.2012E-5 41625 0 NA
2-190541440-T-C p.Met75Thr missense ANKAR 1 83202 1.20189E-5 41601 0 NA
2-190541441-G-A p.Met75Ile missense ANKAR 1 83198 1.20195E-5 41599 0 NA
2-190541443-A-G p.Asn76Ser missense ANKAR 3 83196 3.60594E-5 41598 0 3.3083E-5
2-190541448-G-A p.Val78Ile missense ANKAR 1 83160 1.2025E-5 41580 0 3.98007E-6
2-190541449-T-C p.Val78Ala missense ANKAR 1 83160 1.2025E-5 41580 0 8.2646E-6
2-190541466-A-G p.Ile84Val missense ANKAR 1 83002 1.20479E-5 41501 0 1.59215E-4
2-190541469-C-T p.Leu85Leu synonymous ANKAR 241 82982 0.00290424 41491 1 0.00534964
2-190541470-T-C p.Leu85Pro missense ANKAR 1 82974 1.2052E-5 41487 0 3.18451E-5
2-190541480-C-T c.-445C>T 5_prime_UTR_premature_start_codon_gain ANKAR 1 82908 1.20616E-5 41454 0 1.65196E-5
2-190541481-G-A p.Val89Met missense ANKAR 1 82910 1.20613E-5 41455 0 7.96743E-6
2-190541483-G-C p.Val89Val synonymous ANKAR 2 82908 2.41231E-5 41454 0 3.98333E-6
2-190541492-T-G p.Thr92Thr synonymous ANKAR 330 82842 0.00398349 41421 2 0.00936365
2-190541494-C-T p.Ala93Val missense ANKAR 1 82798 1.20776E-5 41399 0 NA
2-190541497-T-G p.Leu94Arg missense ANKAR 622 82806 0.00751153 41403 9 0.0152548
2-190541497-T-C p.Leu94Pro missense ANKAR 26 82816 3.13949E-4 41408 0 1.98242E-4
2-190541506-A-G p.Tyr97Cys missense ANKAR 1 82784 1.20796E-5 41392 0 NA
2-190541508-A-T p.Arg98* stop_gained ANKAR 1 82784 1.20796E-5 41392 0 3.98441E-6
2-190541518-A-G p.His101Arg missense ANKAR 1 82784 1.20796E-5 41392 0 6.25E-4
2-190541532-G-A p.Glu106Lys missense ANKAR 2 82816 2.41499E-5 41408 0 6.37024E-5
2-190541533-A-C p.Glu106Ala missense ANKAR 3 82818 3.6224E-5 41409 0 1.65175E-5
2-190541536-T-A p.Leu107* stop_gained ANKAR 1 82822 1.20741E-5 41411 0 3.98279E-6
2-190541541-A-G p.Ile109Val missense ANKAR 6 82848 7.24218E-5 41424 0 2.47766E-5
2-190541541-A-C p.Ile109Leu missense ANKAR 1 82850 1.207E-5 41425 0 3.98251E-6
2-190541545-G-A p.Gly110Glu missense ANKAR 1 82854 1.20694E-5 41427 0 6.25E-4
2-190541594-TGATCA-T p.Asp127fs frameshift ANKAR 2 83068 2.40767E-5 41534 0 NA
2-190541602-GTTC-G p.Ser131del disruptive_inframe_deletion ANKAR 1 83082 1.20363E-5 41541 0 NA
2-190541602-G-A p.Ser129Asn missense ANKAR 1 83082 1.20363E-5 41541 0 NA
2-190541615-A-G p.Gln133Gln synonymous ANKAR 2 83086 2.40714E-5 41543 0 3.18431E-5
2-190541630-T-C p.Tyr138Tyr synonymous ANKAR 1 83064 1.20389E-5 41532 0 7.96223E-6
2-190541644-T-C p.Ile143Thr missense ANKAR 1 83010 1.20467E-5 41505 0 4.45775E-4
2-190541646-G-A p.Gly144Arg missense ANKAR 18 83000 2.16867E-4 41500 0 2.23058E-4
2-190541656-T-C p.Leu147Pro missense ANKAR 1 82944 1.20563E-5 41472 0 8.30813E-6
2-190541669-C-T p.Asp151Asp synonymous ANKAR 3 82806 3.62293E-5 41403 0 8.32196E-6
2-190541692-A-G p.His159Arg missense ANKAR 3 82384 3.64148E-5 41192 0 NA
2-190541704-T-C p.Met163Thr missense ANKAR 4 81956 4.88067E-5 40978 0 3.18492E-5
2-190541718-C-T p.Arg168* stop_gained ANKAR 5 81210 6.15688E-5 40605 0 1.61019E-5
2-190541719-G-C p.Arg168Pro missense ANKAR 1 81138 1.23247E-5 40569 0 8.05555E-6
2-190541737-T-G p.Leu174Trp missense ANKAR 2 80326 2.48985E-5 40163 0 3.1839E-5
2-190541742-C-T p.Arg176Cys missense ANKAR 3 79962 3.75178E-5 39981 0 NA
2-190541743-G-A p.Arg176His missense ANKAR 27 79862 3.38083E-4 39931 0 0.00117842
2-190541743-G-T p.Arg176Leu missense ANKAR 2 79870 2.50407E-5 39935 0 5.29187E-5
2-190541745-G-A p.Ala177Thr missense ANKAR 2 79758 2.50759E-5 39879 0 9.12342E-5
2-190541748-A-T p.Ile178Phe missense ANKAR 1 79654 1.25543E-5 39827 0 NA
2-190541752-T-G p.Met179Arg missense ANKAR 2 79416 2.51838E-5 39708 0 4.09427E-6
2-190541757-A-G p.Ile181Val missense ANKAR 1 79094 1.26432E-5 39547 0 5.03525E-4
2-190541770-G-T p.Gly185Val missense ANKAR 1 77940 1.28304E-5 38970 0 NA
2-190541776-C-T p.Pro187Leu missense ANKAR 3 77028 3.89469E-5 38514 0 3.18695E-5
2-190541782-CAAAT-C p.Asn190fs frameshift ANKAR 3 75792 3.9582E-5 37896 0 1.27975E-4
2-190541788-A-C p.Lys191Thr missense ANKAR 151 74310 0.00203203 37155 0 0.00352467
2-190541793-A-AT p.Ser195fs frameshift ANKAR 2 72812 2.7468E-5 36406 0 3.20574E-5
2-190541793-A-G p.Ile193Val missense ANKAR 1 72812 1.3734E-5 36406 0 2.36094E-5
2-190541807-T-G p.Phe197Leu missense ANKAR 2 68638 2.91384E-5 34319 0 9.88962E-4
2-190541813-A-G p.Ser199Ser synonymous ANKAR 2 66640 3.0012E-5 33320 0 NA
2-190541817-G-A p.Gly201Ser missense+splice_region ANKAR 1 65076 1.53666E-5 32538 0 NA
2-190541822-G-A c.-108+5G>A splice_region ANKAR 1 62900 1.58983E-5 31450 0 3.42747E-5
2-190541824-G-T c.-108+7G>T splice_region ANKAR 6 61978 9.68085E-5 30989 0 1.32827E-4
2-190554267-A-G p.Thr206Ala missense ANKAR 191 82540 0.00231403 41270 0 0.00675116
2-190554269-A-G p.Thr206Thr synonymous ANKAR 1 82602 1.21062E-5 41301 0 6.25E-4
2-190554284-T-C p.Phe211Phe synonymous ANKAR 4 82822 4.82963E-5 41411 0 1.91058E-4
2-190554287-T-C p.Asn212Asn synonymous ANKAR 2 82832 2.41453E-5 41416 0 3.18451E-5
2-190554305-C-T c.-55C>T 5_prime_UTR_premature_start_codon_gain ANKAR 4 82912 4.82439E-5 41456 0 0.00375
2-190554306-GTGAA-G p.Asn220fs frameshift ANKAR 2 82938 2.41144E-5 41469 0 NA
2-190554310-A-G p.Asn220Ser missense ANKAR 1 82962 1.20537E-5 41481 0 0.00100705
2-190554319-C-A p.Pro223Gln missense ANKAR 2 82976 2.41034E-5 41488 0 8.27541E-6
2-190554335-C-T p.Asn228Asn synonymous ANKAR 2 82962 2.41074E-5 41481 0 6.25E-4
2-190554362-G-T p.Met1? start_lost ANKAR 1 82958 1.20543E-5 41479 0 NA
2-190554377-T-G p.Asn6Lys missense ANKAR 3 82956 3.61638E-5 41478 0 2.231E-4
2-190554379-T-C p.Ile7Thr missense ANKAR 1 82958 1.20543E-5 41479 0 NA
2-190554388-A-C p.Lys10Thr missense ANKAR 1 82974 1.2052E-5 41487 0 NA
2-190554398-C-G p.Phe13Leu missense ANKAR 1 82978 1.20514E-5 41489 0 4.12555E-5
2-190554399-A-G p.Ser14Gly missense ANKAR 2 82988 2.40999E-5 41494 0 3.18451E-5
2-190554399-A-AAGATAAGCAATTTTAAAAGAATTACGGCCC p.Ser14delinsLysIleSerAsnPheLysArgIleThrAlaArg disruptive_inframe_insertion ANKAR 1 82988 1.20499E-5 41494 0 NA
2-190554408-C-G p.Gln17Glu missense ANKAR 1 82984 1.20505E-5 41492 0 8.25314E-6
2-190554453-T-TTA p.Trp32fs frameshift ANKAR 1 82972 1.20523E-5 41486 0 3.98613E-6
2-190554454-G-A p.Trp32* stop_gained ANKAR 4 82974 4.82079E-5 41487 0 6.37349E-5
2-190554462-A-G p.Asn35Asp missense ANKAR 1027 82958 0.0123798 41479 10 0.0180903
2-190554468-A-G p.Ile37Val missense ANKAR 3 82948 3.61672E-5 41474 0 NA
2-190554483-G-T p.Asp42Tyr missense ANKAR 2 82920 2.41196E-5 41460 0 NA
2-190554490-T-C p.Leu44Pro missense ANKAR 1 82902 1.20624E-5 41451 0 NA
2-190554494-T-A p.Asp45Glu missense ANKAR 1 82932 1.20581E-5 41466 0 1.20118E-5
2-190554497-C-CTTTTTTCTTCTCAAAGTGTTT p.Ile46_Cys47insPhePheLeuLeuLysValPhe disruptive_inframe_insertion ANKAR 1 82922 1.20595E-5 41461 0 NA
2-190554499-G-C p.Cys47Ser missense ANKAR 2 82914 2.41214E-5 41457 0 NA
2-190554501-A-G p.Thr48Ala missense ANKAR 1 82918 1.20601E-5 41459 0 1.20451E-5
2-190554503-C-T p.Thr48Thr synonymous ANKAR 2 82906 2.41237E-5 41453 0 1.21255E-5
2-190554508-A-G p.Gln50Arg missense ANKAR 1 82908 1.20616E-5 41454 0 NA
2-190554529-A-G p.Tyr57Cys missense ANKAR 1 82932 1.20581E-5 41466 0 NA
2-190554540-A-C p.Lys61Gln missense ANKAR 3 82916 3.61812E-5 41458 0 NA
2-190554551-A-G p.Gln64Gln synonymous ANKAR 1 82912 1.2061E-5 41456 0 8.38856E-6
2-190554566-G-T p.Lys69Asn missense ANKAR 1 82902 1.20624E-5 41451 0 NA
2-190554574-A-G p.Asp72Gly missense ANKAR 1 82892 1.20639E-5 41446 0 1.84666E-4
2-190554578-C-T p.Ile73Ile synonymous ANKAR 1 82894 1.20636E-5 41447 0 NA
2-190554582-A-G p.Arg75Gly missense ANKAR 3 82898 3.61891E-5 41449 0 2.52084E-5
2-190554596-C-T p.Tyr79Tyr synonymous ANKAR 1 82740 1.20861E-5 41370 0 NA
2-190554605-A-T p.Leu82Phe missense ANKAR 1 82680 1.20948E-5 41340 0 NA
2-190554606-A-T p.Ile83Leu missense ANKAR 3 82670 3.62889E-5 41335 0 NA
2-190554622-C-T p.Pro88Leu missense ANKAR 13 82384 1.57798E-4 41192 0 1.04508E-4
2-190554623-A-C p.Pro88Pro synonymous ANKAR 12 82386 1.45656E-4 41193 0 1.27502E-4
2-190554627-C-A p.Leu90Ile missense ANKAR 1 82342 1.21445E-5 41171 0 8.7601E-6
2-190554659-A-G p.Pro100Pro synonymous ANKAR 1 81334 1.2295E-5 40667 0 5.35487E-6
2-190554664-T-C p.Leu102Ser missense ANKAR 2 81048 2.46767E-5 40524 0 5.48167E-6
2-190554667-G-A p.Ser103Asn missense ANKAR 1 80894 1.23619E-5 40447 0 3.1904E-5
2-190554668-T-G p.Ser103Arg missense ANKAR 2 80824 2.47451E-5 40412 0 2.72683E-5
2-190554673-T-G p.Leu105Arg missense ANKAR 1 80306 1.24524E-5 40153 0 NA
2-190554688-CAGGTAAG-C p.Asp111fs frameshift ANKAR 1 79074 1.26464E-5 39537 0 NA
2-190556985-C-T p.Asp112Asp synonymous ANKAR 1 82458 1.21274E-5 41229 0 4.47291E-6
2-190556986-A-G p.Lys113Glu missense ANKAR 2 82512 2.42389E-5 41256 0 4.43251E-6
2-190556989-G-A p.Val114Ile missense ANKAR 1 82588 1.21083E-5 41294 0 NA
2-190557001-C-T p.Arg118* stop_gained ANKAR 3 82682 3.62836E-5 41341 0 1.17116E-4
2-190557030-A-G p.Arg127Arg synonymous ANKAR 1 82946 1.2056E-5 41473 0 1.19955E-5
2-190557032-A-AT p.Lys130fs frameshift ANKAR 1 82968 1.20528E-5 41484 0 3.59845E-5
2-190557039-A-G p.Lys130Lys synonymous ANKAR 1 82988 1.20499E-5 41494 0 NA
2-190557040-T-A p.Cys131Ser missense ANKAR 1 82986 1.20502E-5 41493 0 3.18552E-5
2-190557063-G-A p.Glu138Glu synonymous ANKAR 1 83036 1.2043E-5 41518 0 NA
2-190557077-A-T p.His143Leu missense ANKAR 1 83024 1.20447E-5 41512 0 3.18431E-5
2-190557089-G-T p.Gly147Val missense ANKAR 1 83026 1.20444E-5 41513 0 NA
2-190557104-T-C p.Ile152Thr missense ANKAR 2 83024 2.40894E-5 41512 0 8.25955E-6
2-190557112-C-T p.Pro155Ser missense ANKAR 3 82994 3.61472E-5 41497 0 1.91168E-4
2-190557131-T-G p.Leu161Trp missense ANKAR 1 82914 1.20607E-5 41457 0 NA
2-190557142-C-T p.Gln165* stop_gained ANKAR 1 82794 1.20782E-5 41397 0 1.66364E-5
2-190557799-G-GA p.Asn167fs frameshift ANKAR 1 78690 1.27081E-5 39345 0 NA
2-190557799-G-C c.496-1G>C splice_acceptor ANKAR 1 78690 1.27081E-5 39345 0 NA
2-190557803-A-C p.Asn167His missense ANKAR 1 79066 1.26477E-5 39533 0 NA
2-190557809-GA-G p.Ile171fs frameshift ANKAR 3 79658 3.7661E-5 39829 0 1.89701E-5
2-190557809-G-GA p.Ile171fs frameshift ANKAR 1 79658 1.25537E-5 39829 0 8.55417E-6
2-190557811-A-G p.Glu169Glu synonymous ANKAR 7 79850 8.76644E-5 39925 0 1.41234E-5
2-190557818-C-T p.Arg172* stop_gained ANKAR 1 80126 1.24803E-5 40063 0 1.8776E-5
2-190557819-G-A p.Arg172Gln missense ANKAR 1 80176 1.24726E-5 40088 0 6.3743E-5
2-190557827-G-A p.Ala175Thr missense ANKAR 1 80724 1.23879E-5 40362 0 5.04032E-4
2-190557827-G-T p.Ala175Ser missense ANKAR 1 80724 1.23879E-5 40362 0 NA
2-190557830-G-T p.Ala176Ser missense ANKAR 1 80818 1.23735E-5 40409 0 0.00100705
2-190557844-A-G p.Ile180Met missense ANKAR 1 80996 1.23463E-5 40498 0 8.34279E-6
2-190557853-A-G p.Ser183Ser synonymous ANKAR 1 81108 1.23292E-5 40554 0 3.18451E-5
2-190557876-T-C p.Ile191Thr missense ANKAR 1 80992 1.23469E-5 40496 0 NA
2-190557880-A-G p.Pro192Pro synonymous ANKAR 1 81060 1.23365E-5 40530 0 NA
2-190557884-A-T p.Met194Leu missense ANKAR 2 80962 2.47029E-5 40481 0 6.25E-4
2-190557885-T-C p.Met194Thr missense ANKAR 1 80930 1.23564E-5 40465 0 NA
2-190557894-A-G p.His197Arg missense ANKAR 137 80768 0.00169622 40384 0 0.00375
2-190557907-C-T c.599+4C>T splice_region ANKAR 5 80386 6.21999E-5 40193 0 1.06192E-4
2-190557908-G-A c.599+5G>A splice_region ANKAR 724 80276 0.00901888 40138 22 0.0180312
2-190559712-A-C p.Tyr202Ser missense ANKAR 232 79236 0.00292796 39618 0 0.00653241
2-190559714-G-A p.Val203Met missense ANKAR 1 79238 1.26202E-5 39619 0 NA
2-190559714-G-T p.Val203Leu missense ANKAR 1 79238 1.26202E-5 39619 0 NA
2-190559731-A-G p.Leu208Leu synonymous ANKAR 3 80516 3.72597E-5 40258 0 0.00125
2-190559742-A-G p.Tyr212Cys missense ANKAR 1 80782 1.2379E-5 40391 0 2.16482E-5
2-190559744-C-T p.Gln213* stop_gained ANKAR 1 80804 1.23756E-5 40402 0 NA
2-190559752-A-T p.Leu215Leu synonymous ANKAR 2 82852 2.41394E-5 41426 0 3.1841E-5
2-190559763-AGTG-A p.Trp221del conservative_inframe_deletion ANKAR 27 83000 3.25301E-4 41500 0 2.20586E-4
2-190559764-G-A p.Gln219Gln synonymous ANKAR 1 83036 1.2043E-5 41518 0 9.02641E-6
2-190559766-G-C p.Trp220Ser missense ANKAR 5 83074 6.01873E-5 41537 0 1.78674E-5
2-190559768-TG-T p.Gly222fs frameshift ANKAR 1 83074 1.20375E-5 41537 0 3.18613E-5
2-190559793-A-G p.Asn229Ser missense ANKAR 1 83124 1.20302E-5 41562 0 NA
2-190559818-A-G p.Pro237Pro synonymous ANKAR 1 83110 1.20322E-5 41555 0 3.99358E-6
2-190559833-A-G p.Gln242Gln synonymous ANKAR 3 83076 3.61115E-5 41538 0 4.03047E-6
2-190559834-T-G p.Leu243Val missense ANKAR 1 83058 1.20398E-5 41529 0 4.05104E-6
2-190559839-T-C p.His244His synonymous ANKAR 4 83050 4.81638E-5 41525 0 3.18613E-5
2-190559842-A-G p.Glu245Glu synonymous ANKAR 1 83046 1.20415E-5 41523 0 NA
2-190559846-T-C p.Phe247Leu missense ANKAR 1 83022 1.2045E-5 41511 0 8.32113E-6
2-190559851-GAA-TAC p.LysLys248AsnThr missense ANKAR 1 83002 1.20479E-5 41501 0 NA
2-190559856-AG-A p.Lys250fs frameshift ANKAR 1 82952 1.20552E-5 41476 0 6.36821E-5
2-190559862-G-A p.Gly252Asp missense ANKAR 1 82838 1.20718E-5 41419 0 NA
2-190559863-T-C p.Gly252Gly synonymous ANKAR 4 82836 4.82882E-5 41418 0 1.6794E-5
2-190560874-A-G c.781-2A>G splice_acceptor ANKAR 1 83148 1.20267E-5 41574 0 NA
2-190560875-G-A c.781-1G>A splice_acceptor ANKAR 3 83150 3.60794E-5 41575 0 3.98979E-6
2-190560878-T-A p.Ser261Arg missense+splice_region ANKAR 1 83174 1.2023E-5 41587 0 NA
2-190560893-G-A p.Met266Ile missense ANKAR 5 83246 6.00629E-5 41623 0 6.25E-4
2-190560899-C-T p.Ser268Ser synonymous ANKAR 2 83240 2.40269E-5 41620 0 6.76509E-5
2-190560899-C-A p.Ser268Ser synonymous ANKAR 1 83240 1.20135E-5 41620 0 NA
2-190560900-G-A p.Ala269Thr missense ANKAR 1 83242 1.20132E-5 41621 0 3.5816E-5
2-190560907-A-G p.Glu271Gly missense ANKAR 2 83266 2.40194E-5 41633 0 8.24484E-6
2-190560935-AT-A p.Phe281fs frameshift ANKAR 1 83276 1.20083E-5 41638 0 2.78441E-5
2-190560941-C-G p.Ser282Arg missense ANKAR 1 83260 1.20106E-5 41630 0 3.18236E-5
2-190560942-C-T p.Arg283Cys missense ANKAR 10 83264 1.201E-4 41632 0 2.54826E-4
2-190560943-G-A p.Arg283His missense ANKAR 12 83268 1.44113E-4 41634 0 5.03525E-4
2-190560960-A-G p.Thr289Ala missense ANKAR 1 83274 1.20085E-5 41637 0 3.1841E-5
2-190560974-A-G p.Ser293Ser synonymous ANKAR 3 83276 3.60248E-5 41638 0 3.18228E-5
2-190560975-G-T p.Asp294Tyr missense ANKAR 1 83274 1.20085E-5 41637 0 NA
2-190560977-T-A p.Asp294Glu missense ANKAR 1 83274 1.20085E-5 41637 0 NA
2-190560978-G-T p.Glu295* stop_gained ANKAR 2 83276 2.40165E-5 41638 0 9.9455E-5
2-190560989-T-C p.Tyr298Tyr synonymous ANKAR 2 83250 2.4024E-5 41625 0 3.1839E-5
2-190560991-C-CCTAAAG p.Thr299_Ile300insTerSer stop_gained ANKAR 1 83238 1.20137E-5 41619 0 NA
2-190560998-TC-CA p.PheHis301PheAsn missense ANKAR 2 83252 2.40234E-5 41626 0 NA
2-190561000-A-T p.His302Leu missense ANKAR 2 83258 2.40217E-5 41629 0 NA
2-190561003-A-T p.His303Leu missense ANKAR 82 83256 9.84914E-4 41628 0 0.00168736
2-190561007-T-A p.Ala304Ala synonymous ANKAR 2 83248 2.40246E-5 41624 0 NA
2-190561011-C-T p.Leu306Leu synonymous ANKAR 2 83246 2.40252E-5 41623 0 1.64807E-5
2-190561014-C-T p.His307Tyr missense ANKAR 1 83252 1.20117E-5 41626 0 3.18471E-5
2-190561020-A-G p.Arg309Gly missense ANKAR 1 83250 1.2012E-5 41625 0 3.18431E-5
2-190561023-G-A p.Val310Ile missense ANKAR 1 83260 1.20106E-5 41630 0 3.97874E-6
2-190561033-T-C p.Ile313Thr missense ANKAR 1 83256 1.20111E-5 41628 0 8.24103E-6
2-190561042-T-C p.Leu316Pro missense ANKAR 1 83254 1.20114E-5 41627 0 NA
2-190561045-G-C p.Cys317Ser missense ANKAR 1 83246 1.20126E-5 41623 0 NA
2-190561060-A-G p.Lys322Arg missense ANKAR 2535 83186 0.0304739 41593 48 0.0654582
2-190561062-G-A p.Val323Ile missense ANKAR 1 83240 1.20135E-5 41620 0 2.78709E-5
2-190561066-A-G p.Asn324Ser missense ANKAR 1 83240 1.20135E-5 41620 0 3.98305E-6
2-190561075-G-A p.Arg327His missense ANKAR 5 83230 6.00745E-5 41615 0 2.06254E-4
2-190561075-G-C p.Arg327Pro missense ANKAR 1 83230 1.20149E-5 41615 0 8.25014E-6
2-190561079-T-G p.Phe328Leu missense ANKAR 1 83222 1.20161E-5 41611 0 NA
2-190561080-G-T p.Val329Phe missense ANKAR 2 83216 2.40338E-5 41608 0 NA
2-190561085-G-A p.Thr330Thr synonymous ANKAR 17 83178 2.04381E-4 41589 0 2.11908E-4
2-190569758-C-G p.Pro337Arg missense ANKAR 3 83248 3.60369E-5 41624 0 NA
2-190569775-C-T p.Gln343* stop_gained ANKAR 1 83302 1.20045E-5 41651 0 NA
2-190569778-G-C p.Ala344Pro missense ANKAR 3 83302 3.60135E-5 41651 0 1.19332E-5
2-190569778-G-T p.Ala344Ser missense ANKAR 1 83302 1.20045E-5 41651 0 3.18959E-5
2-190569790-G-T p.Glu348* stop_gained ANKAR 1 83314 1.20028E-5 41657 0 NA
2-190569799-G-T p.Val351Phe missense ANKAR 1 83314 1.20028E-5 41657 0 8.23995E-6
2-190569805-C-T p.Leu353Leu synonymous ANKAR 1 83324 1.20013E-5 41662 0 NA
2-190569812-G-A p.Cys355Tyr missense ANKAR 4 83332 4.80008E-5 41666 0 3.18837E-5
2-190569817-A-T p.Lys357* stop_gained ANKAR 1 83338 1.19993E-5 41669 0 NA
2-190569826-T-C p.Tyr360His missense ANKAR 1 83336 1.19996E-5 41668 0 3.97741E-6
2-190569830-C-T p.Thr361Met missense ANKAR 1 83334 1.19999E-5 41667 0 8.23981E-6
2-190569831-G-A p.Thr361Thr synonymous ANKAR 1 83336 1.19996E-5 41668 0 2.78432E-5
2-190569847-G-A p.Gly367Ser missense ANKAR 1 83352 1.19973E-5 41676 0 1.59086E-5
2-190569852-G-T p.Trp368Cys missense ANKAR 1 83352 1.19973E-5 41676 0 6.37064E-5
2-190569858-G-A p.Pro370Pro synonymous ANKAR 42 83344 5.03936E-4 41672 0 0.00125
2-190569862-C-G p.His372Asp missense ANKAR 2 83354 2.3994E-5 41677 1 NA
2-190569870-C-T p.Ala374Ala synonymous ANKAR 2 83348 2.39958E-5 41674 0 5.03525E-4
2-190569871-G-T p.Ala375Ser missense ANKAR 1 83346 1.19982E-5 41673 0 NA
2-190569878-A-G p.Tyr377Cys missense ANKAR 1 83356 1.19967E-5 41678 0 8.23873E-6
2-190569884-A-G p.Asn379Ser missense ANKAR 1 83354 1.1997E-5 41677 0 NA
2-190569885-C-T p.Asn379Asn synonymous ANKAR 11 83348 1.31977E-4 41674 0 0.00251762
2-190569886-G-A p.Val380Ile missense ANKAR 2 83344 2.39969E-5 41672 0 3.18593E-5
2-190569892-A-G p.Ile382Val missense ANKAR 1 83352 1.19973E-5 41676 0 NA
2-190569893-T-C p.Ile382Thr missense ANKAR 1 83354 1.1997E-5 41677 0 3.97678E-6
2-190569908-G-A p.Cys387Tyr missense ANKAR 1842 83312 0.0221097 41656 28 0.021148
2-190569917-A-G p.Asp390Gly missense ANKAR 3 83352 3.59919E-5 41676 0 6.37024E-5
2-190569935-C-T p.Ala396Val missense ANKAR 1 83344 1.19985E-5 41672 0 NA
2-190569944-C-T p.Thr399Ile missense ANKAR 9 83340 1.07991E-4 41670 0 1.27429E-4
2-190569953-A-G c.1202+3A>G splice_region ANKAR 1 83338 1.19993E-5 41669 0 6.36862E-5
2-190571659-T-A c.1203-5T>A splice_region ANKAR 1 82818 1.20747E-5 41409 0 NA
2-190571671-T-C p.Cys404Arg missense ANKAR 1 82974 1.2052E-5 41487 0 NA
2-190571686-C-T p.Leu409Phe missense ANKAR 1 83044 1.20418E-5 41522 0 NA
2-190571689-G-A p.Ala410Thr missense ANKAR 1 83040 1.20424E-5 41520 0 6.60633E-5
2-190571692-G-A p.Ala411Thr missense ANKAR 40 83038 4.81707E-4 41519 0 9.23508E-4
2-190571700-A-G p.Ser413Ser synonymous ANKAR 1 83042 1.20421E-5 41521 0 1.65044E-5
2-190571716-A-C p.Ile419Leu missense ANKAR 1 83054 1.20404E-5 41527 0 NA
2-190571723-A-C p.Tyr421Ser missense ANKAR 1 83056 1.20401E-5 41528 0 3.98451E-6
2-190571727-G-A p.Leu422Leu synonymous ANKAR 4 83052 4.81626E-5 41526 0 1.89857E-4
2-190571731-T-C p.Ser424Pro missense ANKAR 6 83042 7.22526E-5 41521 0 3.98394E-6
2-190571732-C-A p.Ser424Tyr missense ANKAR 1 83044 1.20418E-5 41522 0 3.18451E-5
2-190571736-C-T p.Ile425Ile synonymous ANKAR 1 83024 1.20447E-5 41512 0 2.39091E-5
2-190571737-G-A p.Gly426Ser missense ANKAR 2 83014 2.40923E-5 41507 0 0.00100705
2-190571750-G-GA p.Thr432fs frameshift ANKAR 5 82998 6.02424E-5 41499 1 NA
2-190571762-T-C p.Ile434Thr missense ANKAR 3 82958 3.61629E-5 41479 0 9.55962E-5
2-190571767-G-A p.Gly436Arg missense ANKAR 1 82932 1.20581E-5 41466 0 NA
2-190571775-T-C p.Asn438Asn synonymous ANKAR 1 82882 1.20653E-5 41441 0 3.41826E-4
2-190571776-A-G p.Ile439Val missense ANKAR 2677 82826 0.0323208 41413 49 0.0413623
2-190571797-A-G p.Thr446Ala missense ANKAR 268 82780 0.0032375 41390 0 0.00756048
2-190571798-C-A p.Thr446Asn missense ANKAR 1 82756 1.20837E-5 41378 0 NA
2-190571800-T-C p.Phe447Leu missense ANKAR 2 82664 2.41943E-5 41332 0 0.0015121
2-190571804-A-T p.His448Leu missense ANKAR 2 82588 2.42166E-5 41294 0 4.06769E-6
2-190571804-A-G p.His448Arg missense ANKAR 1 82588 1.21083E-5 41294 0 NA
2-190571807-C-T p.Thr449Ile missense ANKAR 2 82548 2.42283E-5 41274 0 6.37836E-5
2-190571812-G-T p.Val451Phe missense ANKAR 1 82340 1.21448E-5 41170 0 NA
2-190571816-T-G p.Leu452Arg missense ANKAR 3 82110 3.65364E-5 41055 0 NA
2-190571824-A-G p.Ile455Val missense ANKAR 1 81556 1.22615E-5 40778 0 2.74642E-5
2-190571827-A-G p.Ile456Val missense ANKAR 2 81334 2.459E-5 40667 0 NA
2-190571839-A-G p.Ile460Val missense ANKAR 1 80722 1.23882E-5 40361 0 NA
2-190571842-C-T p.Pro461Ser missense ANKAR 1 80536 1.24168E-5 40268 0 NA
2-190571875-G-T c.1411+3G>T splice_region ANKAR 1 78798 1.26907E-5 39399 0 NA
2-190571876-A-G c.1411+4A>G splice_region ANKAR 1 78676 1.27104E-5 39338 0 3.18939E-5
2-190571880-T-C c.1411+8T>C splice_region ANKAR 1 78368 1.27603E-5 39184 0 8.33153E-6
2-190575772-C-G c.1412-3C>G splice_region ANKAR 5 82350 6.07165E-5 41175 0 1.21241E-5
2-190575775-A-C p.Glu471Ala missense+splice_region ANKAR 8 82432 9.70497E-5 41216 0 3.30131E-5
2-190575790-A-C p.Glu476Ala missense ANKAR 2 82706 2.4182E-5 41353 0 1.6494E-5
2-190575796-A-G p.Tyr478Cys missense ANKAR 2 82782 2.41598E-5 41391 0 3.97959E-6
2-190575801-C-T p.Arg480* stop_gained ANKAR 2 82838 2.41435E-5 41419 0 3.18451E-5
2-190575802-G-A p.Arg480Gln missense ANKAR 5 82854 6.03471E-5 41427 0 9.55414E-5
2-190575813-G-A p.Ala484Thr missense ANKAR 1 82928 1.20587E-5 41464 0 NA
2-190575813-G-GC p.Val485fs frameshift ANKAR 1 82928 1.20587E-5 41464 0 NA
2-190575815-C-T p.Ala484Ala synonymous ANKAR 1 82912 1.2061E-5 41456 0 1.15412E-4
2-190575816-G-A p.Val485Ile missense ANKAR 4 82926 4.82358E-5 41463 0 4.94381E-5
2-190575816-G-T p.Val485Phe missense ANKAR 1 82926 1.20589E-5 41463 0 NA
2-190575819-A-G p.Met486Val missense ANKAR 4 82966 4.82125E-5 41483 0 1.91046E-4
2-190575820-T-C p.Met486Thr missense ANKAR 2 82964 2.41068E-5 41482 0 8.23913E-6
2-190575838-G-T p.Cys492Phe missense ANKAR 5 82970 6.02627E-5 41485 0 2.38747E-5
2-190575854-A-G p.Gln497Gln synonymous ANKAR 2 82930 2.41167E-5 41465 0 2.47174E-5
2-190575857-C-T p.Tyr498Tyr synonymous ANKAR 1 82944 1.20563E-5 41472 0 8.23913E-5
2-190575859-G-A p.Trp499* stop_gained ANKAR 1 82930 1.20584E-5 41465 0 NA
2-190575867-A-G p.Ile502Val missense ANKAR 1 82822 1.20741E-5 41411 0 3.18451E-5
2-190575881-T-A c.1516+2T>A splice_donor ANKAR 2 82660 2.41955E-5 41330 0 8.24865E-6
2-190584299-C-T p.Gly506Gly splice_region+synonymous ANKAR 1 82374 1.21398E-5 41187 0 8.52966E-6
2-190584319-A-G p.Asn513Ser missense ANKAR 3 82652 3.62968E-5 41326 0 8.39772E-6
2-190584329-A-G p.Lys516Lys synonymous ANKAR 1 82678 1.20951E-5 41339 0 3.18431E-5
2-190584331-G-T p.Ser517Ile missense ANKAR 1 82686 1.20939E-5 41343 0 1.66884E-5
2-190584346-T-G p.Leu522Arg missense ANKAR 2 82808 2.41523E-5 41404 0 8.29229E-6
2-190584349-A-G p.Gln523Arg missense ANKAR 1 82856 1.20691E-5 41428 0 8.28638E-6
2-190584397-C-A p.Ala539Glu missense ANKAR 1 83286 1.20068E-5 41643 0 NA
2-190584400-T-C p.Val540Ala missense ANKAR 99 83296 0.00118853 41648 2 0.00238869
2-190584405-G-A p.Ala542Thr missense ANKAR 1 83316 1.20025E-5 41658 0 NA
2-190584410-G-A p.Leu543Leu synonymous ANKAR 256 83302 0.00307316 41651 3 0.00646538
2-190584412-T-C p.Val544Ala missense ANKAR 1 83314 1.20028E-5 41657 0 NA
2-190584417-G-A p.Ala546Thr missense ANKAR 1 83310 1.20034E-5 41655 0 6.3674E-5
2-190584419-G-A p.Ala546Ala synonymous ANKAR 2 83312 2.40061E-5 41656 0 3.1841E-5
2-190584440-C-T p.Ile553Ile synonymous ANKAR 4 83310 4.80134E-5 41655 0 1.9887E-5
2-190584448-T-C p.Leu556Pro missense ANKAR 3 83312 3.60092E-5 41656 0 5.03525E-4
2-190584449-G-T p.Leu556Leu synonymous ANKAR 1 83308 1.20036E-5 41654 0 1.65352E-5
2-190584461-G-A p.Glu560Glu synonymous ANKAR 1 83302 1.20045E-5 41651 0 NA
2-190584467-A-C p.Glu562Asp missense ANKAR 1 83302 1.20045E-5 41651 0 7.95564E-6
2-190584470-A-G p.Val563Val synonymous ANKAR 1 83298 1.20051E-5 41649 0 1.66168E-5
2-190584473-C-T p.His564His synonymous ANKAR 1 83298 1.20051E-5 41649 0 NA
2-190584475-C-G p.Ser565Cys missense ANKAR 1 83288 1.20065E-5 41644 0 8.32972E-6
2-190584477-C-T p.Arg566Cys missense ANKAR 1 83286 1.20068E-5 41643 0 3.1839E-5
2-190584478-G-A p.Arg566His missense ANKAR 48 83272 5.76424E-4 41636 0 0.00187922
2-190584478-G-C p.Arg566Pro missense ANKAR 1 83274 1.20085E-5 41637 0 3.97947E-6
2-190584494-A-G p.Leu571Leu synonymous ANKAR 1 83248 1.20123E-5 41624 0 3.98206E-6
2-190584505-C-G p.Ala575Gly missense ANKAR 1 83094 1.20346E-5 41547 0 8.49531E-6
2-190584514-A-C p.Glu578Ala missense ANKAR 1 82814 1.20753E-5 41407 0 NA
2-190584519-A-C p.Lys580Gln missense ANKAR 1 82772 1.20814E-5 41386 0 NA
2-190584522-G-A p.Asp581Asn missense ANKAR 1 82666 1.20969E-5 41333 0 8.72159E-6
2-190584529-T-C p.Ile583Thr missense ANKAR 1 82426 1.21321E-5 41213 0 NA
2-190584547-C-G c.1758+8C>G splice_region ANKAR 3 81798 3.66757E-5 40899 0 3.18532E-5
2-190584547-C-A c.1758+8C>A splice_region ANKAR 1 81798 1.22252E-5 40899 0 NA
2-190585337-A-T c.1759-8A>T splice_region ANKAR 1 77490 1.29049E-5 38745 0 0.00130548
2-190585371-A-T p.Leu595Leu synonymous ANKAR 1 77856 1.28442E-5 38928 0 NA
2-190585383-C-T p.Asn599Asn synonymous ANKAR 1 78222 1.27841E-5 39111 0 NA
2-190585408-A-G p.Met608Val missense ANKAR 1 78680 1.27097E-5 39340 0 5.87399E-6
2-190585415-G-C p.Cys610Ser missense ANKAR 1 80296 1.24539E-5 40148 0 NA
2-190585417-A-G p.Ile611Val missense ANKAR 1 80370 1.24425E-5 40185 0 NA
2-190585418-T-C p.Ile611Thr missense ANKAR 9 80360 1.11996E-4 40180 0 1.72903E-5
2-190585420-C-T p.Arg612Trp missense ANKAR 2 80246 2.49234E-5 40123 0 1.59347E-4
2-190585421-G-A p.Arg612Gln missense ANKAR 1 80324 1.24496E-5 40162 0 3.45209E-5
2-190585430-G-A p.Cys615Tyr missense ANKAR 1 80474 1.24264E-5 40237 0 NA
2-190585437-A-G p.Gly617Gly synonymous ANKAR 2 80690 2.47862E-5 40345 0 NA
2-190585445-ACAAT-A p.Asn621fs frameshift ANKAR 1 81054 1.23375E-5 40527 0 8.60882E-6
2-190585448-A-C p.Asn621Thr missense ANKAR 2 81022 2.46847E-5 40511 0 1.72224E-5
2-190585471-A-C p.Lys629Gln missense ANKAR 1 80930 1.23564E-5 40465 0 0.0020141
2-190585475-G-T p.Gly630Val missense ANKAR 2 80962 2.47029E-5 40481 0 6.37714E-5
2-190585476-C-T p.Gly630Gly synonymous ANKAR 2 80874 2.47298E-5 40437 0 8.74202E-6
2-190585486-C-A p.Leu634Ile missense ANKAR 4 81120 4.93097E-5 40560 0 4.39537E-5
2-190585490-T-C p.Ile635Thr missense ANKAR 1 80638 1.24011E-5 40319 0 1.76162E-5
2-190585498-C-T p.Leu638Leu synonymous ANKAR 1 80658 1.2398E-5 40329 0 2.65393E-5
2-190585501-AG-A p.Ser639fs frameshift ANKAR 2 80638 2.48022E-5 40319 0 NA
2-190585521-T-G c.1927+8T>G splice_region ANKAR 2 80020 2.49938E-5 40010 0 NA
2-190592544-A-C c.1928-5A>C splice_region ANKAR 1 82386 1.2138E-5 41193 0 NA
2-190592582-A-G p.Asp879Gly missense+splice_region ANKAR 2 83032 2.40871E-5 41516 0 3.18492E-5
2-190592594-C-A p.Ala658Asp missense ANKAR 3 83186 3.60638E-5 41593 0 6.25E-4
2-190592602-TCTG-T p.Ala663del disruptive_inframe_deletion ANKAR 2 83228 2.40304E-5 41614 0 3.98197E-6
2-190592603-C-CT p.Ala662fs frameshift ANKAR 2 83228 2.40304E-5 41614 0 3.98175E-6
2-190592615-CT-C p.Glu666fs frameshift ANKAR 1 83256 1.20111E-5 41628 0 0.00151057
2-190592620-G-A p.Val667Ile missense ANKAR 1 83264 1.201E-5 41632 0 NA
2-190592627-G-T p.Arg669Leu missense ANKAR 17 83270 2.04155E-4 41635 0 0.00125
2-190592627-G-A p.Arg669His missense ANKAR 2 83270 2.40183E-5 41635 0 7.95849E-6
2-190592633-A-G p.Asn671Ser missense ANKAR 1 83280 1.20077E-5 41640 0 8.35555E-5
2-190592647-G-C p.Asp676His missense ANKAR 1 83308 1.20036E-5 41654 0 NA
2-190592664-G-A p.Glu681Glu synonymous ANKAR 1 83304 1.20042E-5 41652 0 3.18552E-5
2-190592669-C-T p.Ala683Val missense ANKAR 1 83296 1.20054E-5 41648 0 6.37389E-5
2-190592669-C-G p.Ala683Gly missense ANKAR 1 83296 1.20054E-5 41648 0 NA
2-190592670-G-A p.Ala683Ala synonymous ANKAR 3 83302 3.60135E-5 41651 0 3.18613E-5
2-190592672-T-G p.Ile684Ser missense ANKAR 2 83302 2.4009E-5 41651 0 1.649E-5
2-190592675-C-A p.Pro685His missense ANKAR 2 83296 2.40108E-5 41648 0 NA
2-190592688-T-C p.Ala689Ala synonymous ANKAR 1 83286 1.20068E-5 41643 0 6.37146E-5
2-190592699-G-A p.Gly693Glu missense ANKAR 1 83274 1.20085E-5 41637 0 1.98921E-5
2-190592706-A-G p.Gln695Gln synonymous ANKAR 1 83270 1.20091E-5 41635 0 NA
2-190592710-A-G p.Ser697Gly missense ANKAR 1 83264 1.201E-5 41632 0 NA
2-190592735-C-T p.Ala705Val missense ANKAR 1 83208 1.20181E-5 41604 0 8.24892E-6
2-190592739-G-T p.Val706Val synonymous ANKAR 8 83186 9.617E-5 41593 0 1.73253E-4
2-190592760-C-T p.Asn713Asn synonymous ANKAR 395 83076 0.00475468 41538 10 0.00866506
2-190592761-G-A p.Ala714Thr missense ANKAR 1 83078 1.20369E-5 41539 0 2.39067E-5
2-190592768-T-A p.Ile716Lys missense ANKAR 1 83066 1.20386E-5 41533 0 3.18492E-5
2-190592793-G-A p.Ser724Ser synonymous ANKAR 38 82978 4.57953E-4 41489 0 6.25E-4
2-190592798-CTAAAT-C p.Lys727fs frameshift ANKAR 5 82972 6.02613E-5 41486 0 4.34367E-5
2-190592802-A-G p.Lys727Lys synonymous ANKAR 85 82952 0.00102469 41476 3 0.00503525
2-190592806-C-G p.Leu729Val missense ANKAR 1 82936 1.20575E-5 41468 0 NA
2-190592806-C-A p.Leu729Ile missense ANKAR 2 82936 2.4115E-5 41468 0 NA
2-190592821-A-G p.Lys734Glu missense+splice_region ANKAR 2 82866 2.41354E-5 41433 0 9.55353E-5
2-190592985-A-T c.2203-8A>T splice_region ANKAR 1 82356 1.21424E-5 41178 0 1.27413E-4
2-190593004-A-G p.Ile738Met missense ANKAR 1 82774 1.20811E-5 41387 0 NA
2-190593015-A-T p.Glu742Val missense ANKAR 2 82918 2.41202E-5 41459 0 NA
2-190593023-G-A p.Ala745Thr missense ANKAR 2 83008 2.40941E-5 41504 0 NA
2-190593032-C-T p.Leu748Phe missense ANKAR 3 83066 3.61159E-5 41533 0 6.25E-4
2-190593036-G-T p.Trp749Leu missense ANKAR 1 83074 1.20375E-5 41537 0 NA
2-190593045-C-T p.Ala752Val missense ANKAR 1 83100 1.20337E-5 41550 0 NA
2-190593086-A-G p.Ile766Val missense ANKAR 2 83144 2.40547E-5 41572 0 NA
2-190593090-G-A p.Gly767Glu missense ANKAR 50 83128 6.01482E-4 41564 0 0.0020141
2-190593118-G-A p.Leu776Leu synonymous ANKAR 1 82984 1.20505E-5 41492 0 4.18193E-6
2-190593119-T-C p.Ser777Pro missense ANKAR 2 82974 2.41039E-5 41487 0 NA
2-190593130-TA-T p.Met782fs frameshift ANKAR 5 82894 6.0318E-5 41447 0 6.38896E-5
2-190593144-T-G p.Val785Gly missense+splice_region ANKAR 1 82734 1.20869E-5 41367 0 3.29099E-5
2-190593151-G-T c.2356+5G>T splice_region ANKAR 13 82506 1.57564E-4 41253 0 2.10659E-4
2-190593381-A-G c.3032-5A>G splice_region ANKAR 41 82304 4.98153E-4 41152 0 6.25E-4
2-190593381-A-T c.3032-5A>T splice_region ANKAR 1 82304 1.21501E-5 41152 0 8.46539E-6
2-190593384-A-G c.3032-2A>G splice_acceptor ANKAR 1 82388 1.21377E-5 41194 0 NA
2-190593387-A-G p.Gly1011Gly splice_region+synonymous ANKAR 2 82456 2.42554E-5 41228 0 3.18695E-5
2-190593391-G-A p.Glu1013Lys missense ANKAR 1 82526 1.21174E-5 41263 0 3.18492E-5
2-190593394-G-A p.Ala1014Thr missense ANKAR 1 82568 1.21112E-5 41284 0 3.34851E-5
2-190593401-TA-T p.Ile1016fs frameshift ANKAR 7 82690 8.46535E-5 41345 0 1.59297E-4
2-190593401-T-C p.Ile1016Thr missense ANKAR 1 82690 1.20934E-5 41345 0 3.18593E-5
2-190593403-GCTCT-G p.Ala1017fs frameshift ANKAR 7 82706 8.46371E-5 41353 0 1.59236E-4
2-190593406-C-G p.Leu1018Val missense ANKAR 1 82738 1.20863E-5 41369 0 1.19642E-5
2-190593407-T-G p.Leu1018Arg missense ANKAR 1 82762 1.20828E-5 41381 0 NA
2-190593411-TAAGG-T p.Lys1020fs frameshift ANKAR 50 82786 6.03967E-4 41393 0 3.18552E-4
2-190593442-T-G p.Cys1030Gly missense ANKAR 2 82956 2.41092E-5 41478 0 NA
2-190593443-G-C p.Cys1030Ser missense ANKAR 1 82964 1.20534E-5 41482 0 8.25191E-6
2-190593458-T-C p.Ile1035Thr missense ANKAR 12 82968 1.44634E-4 41484 0 1.23736E-4
2-190593468-G-T p.Leu1038Phe missense ANKAR 3 82946 3.61681E-5 41473 0 6.25E-4
2-190593470-T-C p.Val1039Ala missense ANKAR 163 82942 0.00196523 41471 1 0.005
2-190593472-C-T p.Arg1040Cys missense ANKAR 1 82956 1.20546E-5 41478 0 5.03525E-4
2-190593473-G-A p.Arg1040His missense ANKAR 3 82942 3.61699E-5 41471 0 8.24946E-6
2-190593482-G-C p.Arg1043Thr missense ANKAR 3 82934 3.61733E-5 41467 0 3.1837E-5
2-190593492-G-A p.Thr1046Thr synonymous ANKAR 1 82912 1.2061E-5 41456 0 2.47566E-5
2-190593502-G-T p.Gly1050Cys missense ANKAR 1 82920 1.20598E-5 41460 0 8.25696E-6
2-190593503-G-T p.Gly1050Val missense ANKAR 4 82912 4.82439E-5 41456 0 2.94692E-4
2-190593504-C-T p.Gly1050Gly synonymous ANKAR 1 82914 1.20607E-5 41457 0 NA
2-190593510-TCTC-T p.Leu1053del conservative_inframe_deletion ANKAR 3 82892 3.61917E-5 41446 0 7.96533E-6
2-190593510-T-C p.Leu1052Leu synonymous ANKAR 1 82892 1.20639E-5 41446 0 NA
2-190593515-G-A p.Ser1054Asn missense ANKAR 6 82888 7.23868E-5 41444 0 8.27267E-6
2-190593520-A-G p.Ile1056Val missense ANKAR 1 82880 1.20656E-5 41440 0 8.28487E-6
2-190593540-T-G p.Ile1062Met missense ANKAR 2 82788 2.41581E-5 41394 0 1.59236E-4
2-190593554-A-G c.3193+7A>G splice_region ANKAR 1 82624 1.2103E-5 41312 0 3.1841E-5
2-190593554-A-C c.3193+7A>C splice_region ANKAR 1 82624 1.2103E-5 41312 0 8.44909E-6
2-190595214-C-A c.3194-7C>A splice_region ANKAR 2 81570 2.45188E-5 40785 0 NA
2-190595238-A-C p.Asn1071His missense ANKAR 1 81972 1.21993E-5 40986 0 8.23228E-6
2-190595249-T-A p.Ser1074Arg missense ANKAR 1 81996 1.21957E-5 40998 0 NA
2-190595258-G-T p.Leu1077Phe missense ANKAR 81146 81908 0.990697 40954 40219 0.99875
2-190595271-A-G p.Asn1082Asp missense ANKAR 1 82050 1.21877E-5 41025 0 NA
2-190595281-C-T p.Pro1085Leu missense ANKAR 1 82080 1.21832E-5 41040 0 NA
2-190595282-A-G p.Pro1085Pro synonymous ANKAR 1 82090 1.21818E-5 41045 0 NA
2-190595284-T-G p.Val1086Gly missense ANKAR 98 82068 0.00119413 41034 0 0.00503525
2-190595300-A-G p.Leu1091Leu synonymous ANKAR 1 81964 1.22005E-5 40982 0 NA
2-190595321-C-T p.Asn1098Asn synonymous ANKAR 1 81538 1.22642E-5 40769 0 3.18593E-5
2-190597824-CAT-C c.3301-8_3301-7delAT splice_region ANKAR 14 82742 1.69201E-4 41371 0 2.86679E-4
2-190597827-G-A c.3301-6G>A splice_region ANKAR 1 82800 1.20773E-5 41400 0 1.25356E-5
2-190597842-G-A p.Ala1104Thr missense ANKAR 3 82870 3.62013E-5 41435 0 2.50511E-5
2-190597860-A-C p.Ile1110Leu missense ANKAR 2 82884 2.41301E-5 41442 0 1.65303E-5
2-190597860-A-G p.Ile1110Val missense ANKAR 1 82884 1.20651E-5 41442 0 3.18532E-5
2-190597876-A-T p.Asp1115Val missense ANKAR 2 82914 2.41214E-5 41457 0 8.26733E-6
2-190597896-C-T p.His1122Tyr missense ANKAR 1 82882 1.20653E-5 41441 0 1.19851E-5
2-190597898-T-A p.His1122Gln missense ANKAR 2 82884 2.41301E-5 41442 0 3.99479E-6
2-190597923-GATGTCCTTTATCTTCTTCACTCAAC-G p.Asp1131fs frameshift ANKAR 1 82746 1.20852E-5 41373 0 NA
2-190597931-T-C p.Leu1133Leu synonymous ANKAR 1 82630 1.21021E-5 41315 0 1.67909E-5
2-190597945-C-A p.Ser1138* stop_gained ANKAR 1 82374 1.21398E-5 41187 0 NA
2-190597946-A-T p.Ser1138Ser synonymous ANKAR 1 82370 1.21403E-5 41185 0 4.17526E-6
2-190597946-A-ATAATTTTTAAT p.Thr1139fs frameshift ANKAR 1 82370 1.21403E-5 41185 0 NA
2-190597956-G-A c.3423+1G>A splice_donor ANKAR 2 82174 2.43386E-5 41087 0 NA
2-190602408-G-A c.2357-1G>A splice_acceptor ANKAR 2 82424 2.42648E-5 41212 0 3.18979E-5
2-190602412-A-G p.Tyr787Cys missense ANKAR 2 82462 2.42536E-5 41231 0 NA
2-190602427-G-A p.Arg792Lys missense ANKAR 1 82636 1.21013E-5 41318 0 1.80002E-5
2-190602441-ACTTTTTGC-A p.Phe798fs frameshift ANKAR 1 82702 1.20916E-5 41351 0 4.22976E-6
2-190602451-T-C p.Leu800Pro missense ANKAR 1 82720 1.2089E-5 41360 0 2.61826E-5
2-190602454-A-G p.Gln801Arg missense ANKAR 4 82708 4.83629E-5 41354 0 2.52297E-4
2-190602460-C-T p.Arg1159Cys missense ANKAR 2 82694 2.41856E-5 41347 0 9.56694E-5
2-190602477-A-G p.Leu1164Leu synonymous ANKAR 5 82616 6.0521E-5 41308 0 9.55536E-5
2-190602479-T-C p.Ile1165Thr missense ANKAR 1 82618 1.21039E-5 41309 0 NA
2-190602502-A-G p.Ile1173Val missense ANKAR 1 82466 1.21262E-5 41233 0 NA
2-190602508-A-G p.Ile1175Val missense ANKAR 2 82364 2.42825E-5 41182 0 NA
2-190602513-T-C p.Phe1176Phe synonymous ANKAR 81296 82066 0.990617 41033 40289 0.99875
2-190602518-G-GT p.Leu1180fs frameshift ANKAR 1 82162 1.21711E-5 41081 0 NA
2-190602518-G-A p.Arg1178His missense ANKAR 2 82162 2.43422E-5 41081 0 8.2861E-6
2-190602524-T-G p.Leu1180Arg missense ANKAR 21 82152 2.55624E-4 41076 0 6.36821E-5
2-190602535-G-A p.Val1184Ile missense ANKAR 1 82082 1.21829E-5 41041 0 NA
2-190602538-G-A p.Glu1185Lys missense ANKAR 2 82044 2.43772E-5 41022 0 NA
2-190602543-T-A p.Thr1186Thr synonymous ANKAR 2 81988 2.43938E-5 40994 0 3.1841E-5
2-190602568-G-A c.*109+1G>A splice_donor ANKAR 5 81430 6.14024E-5 40715 0 3.18431E-5
2-190603293-T-C p.Ile1195Ile splice_region+synonymous ANKAR 5 81756 6.11576E-5 40878 0 6.38244E-5
2-190603298-T-C p.Val1197Ala missense ANKAR 1 81926 1.22061E-5 40963 0 NA
2-190603310-T-A p.Val1201Asp missense ANKAR 1 82284 1.2153E-5 41142 0 NA
2-190603315-AGAGATATG-A p.Asp1204fs frameshift ANKAR 2 82296 2.43025E-5 41148 0 NA
2-190603329-T-C p.His1207His synonymous ANKAR 1 82424 1.21324E-5 41212 0 8.26037E-6
2-190603330-A-G p.Ile1208Val missense ANKAR 3 82434 3.63928E-5 41217 0 8.26023E-6
2-190603335-T-G p.Thr1209Thr synonymous ANKAR 2 82466 2.42524E-5 41233 0 8.25941E-5
2-190603336-TTGTC-T p.Ser1211fs frameshift ANKAR 1 82468 1.21259E-5 41234 0 NA
2-190603343-C-G p.Ala1212Gly missense ANKAR 2 82462 2.42536E-5 41231 0 NA
2-190603344-A-G p.Ala1212Ala synonymous ANKAR 33 82458 4.00204E-4 41229 0 8.59763E-4
2-190603355-C-T p.Thr1216Ile missense ANKAR 1 82466 1.21262E-5 41233 0 3.3071E-5
2-190603362-A-G p.Leu1218Leu synonymous ANKAR 4 82416 4.85343E-5 41208 0 NA
2-190603363-G-A p.Val1219Ile missense ANKAR 2 82412 2.42683E-5 41206 0 NA
2-190603381-G-T p.Val1225Phe missense ANKAR 1 82190 1.21669E-5 41095 0 NA
2-190603391-C-G p.Ser1228Cys missense ANKAR 1 81974 1.2199E-5 40987 0 8.28734E-6
2-190603391-C-A p.Ser1228Tyr missense ANKAR 2 81974 2.4398E-5 40987 0 NA
2-190606065-T-C c.*228-3T>C splice_region ANKAR 4 82058 4.8746E-5 41029 0 8.81477E-6
2-190606090-T-A p.Ala1241Ala synonymous ANKAR 1 82560 1.21124E-5 41280 0 NA
2-190606101-C-T p.Ala1245Val missense ANKAR 8 82672 9.6768E-5 41336 0 1.89018E-4
2-190606107-T-C p.Ile1247Thr missense ANKAR 1 82694 1.20928E-5 41347 0 NA
2-190606135-A-C p.Thr1256Thr synonymous ANKAR 11 82862 1.32751E-4 41431 0 5.80841E-4
2-190606142-C-T p.Arg1259Trp missense ANKAR 1 82846 1.20706E-5 41423 0 3.30753E-5
2-190606143-G-A p.Arg1259Gln missense ANKAR 12 82836 1.44865E-4 41418 0 3.4848E-4
2-190606152-A-C p.Tyr1262Ser missense ANKAR 866 82796 0.0104594 41398 6 0.0156093
2-190606160-T-C p.Tyr1265His missense ANKAR 1 82734 1.20869E-5 41367 0 8.1479E-6
2-190606164-C-T p.Ser1266Leu missense ANKAR 1 82540 1.21153E-5 41270 0 3.18613E-5
2-190606165-G-A p.Ser1266Ser synonymous ANKAR 2 82560 2.42248E-5 41280 0 1.27437E-4
2-190606169-A-G p.Ile1268Val missense ANKAR 2 82502 2.42418E-5 41251 0 NA
2-190606178-G-A c.*337+1G>A splice_donor ANKAR 3 82082 3.65488E-5 41041 0 2.16151E-5
2-190606184-A-G c.*337+7A>G splice_region ANKAR 1 82102 1.218E-5 41051 0 6.36821E-5
2-190608001-G-A p.Val1271Ile missense+splice_region ANKAR 1 81942 1.22038E-5 40971 0 1.19946E-5
2-190608004-C-T p.Arg1272Cys missense ANKAR 6 82022 7.31511E-5 41011 0 1.35925E-4
2-190608005-G-A p.Arg1272His missense ANKAR 90 82070 0.00109662 41035 1 0.00151362
2-190608005-G-GTGCAGCT p.Ser1277fs frameshift ANKAR 2 82074 2.43683E-5 41037 0 3.9953E-6
2-190608023-C-A p.Ala1278Asp missense ANKAR 1 82442 1.21297E-5 41221 0 NA
2-190608040-T-C p.Tyr1284His missense ANKAR 1 82640 1.21007E-5 41320 0 1.66055E-5
2-190608047-C-T p.Ala1286Val missense ANKAR 1 82678 1.20951E-5 41339 0 8.30055E-6
2-190608053-C-T p.Ala1288Val missense ANKAR 4 82710 4.83617E-5 41355 0 5.03525E-4
2-190608058-C-T p.Arg1290Cys missense ANKAR 5 82712 6.04507E-5 41356 0 5.04032E-4
2-190608066-A-G p.Leu1292Leu synonymous ANKAR 1 82754 1.2084E-5 41377 0 NA
2-190608069-A-G p.Leu1293Leu synonymous ANKAR 1 82758 1.20834E-5 41379 0 NA
2-190608073-G-T p.Glu1295* stop_gained ANKAR 1 82784 1.20796E-5 41392 0 NA
2-190608104-G-A p.Arg1305His missense ANKAR 1 82848 1.20703E-5 41424 0 3.32646E-5
2-190608123-C-T p.Ser1311Ser synonymous ANKAR 2 82888 2.41289E-5 41444 0 1.19595E-5
2-190608138-T-G p.Ile1316Met missense ANKAR 1 82942 1.20566E-5 41471 0 1.67084E-5
2-190608146-C-A p.Ala1319Glu missense ANKAR 1 82962 1.20537E-5 41481 0 2.51117E-5
2-190608152-T-A p.Leu1321* stop_gained ANKAR 2 82966 2.41063E-5 41483 0 3.43775E-4
2-190608172-C-T p.Gln1328* stop_gained ANKAR 6 82974 7.23118E-5 41487 0 9.56145E-5
2-190608206-G-T c.*537+6G>T splice_region ANKAR 2 82764 2.41651E-5 41382 0 NA
2-190609469-C-G p.Leu1338Val missense+splice_region ANKAR 4 81878 4.88532E-5 40939 0 NA
2-190609470-T-G p.Leu1338Arg missense+splice_region ANKAR 1 81892 1.22112E-5 40946 0 4.06253E-6
2-190609472-G-T p.Glu1339* stop_gained ANKAR 6 81892 7.32672E-5 40946 0 4.05943E-5
2-190609478-A-G p.Asn1341Asp missense ANKAR 2 81924 2.44129E-5 40962 0 NA
2-190609487-C-T p.Pro1344Ser missense ANKAR 1 81934 1.22049E-5 40967 0 8.31117E-6
2-190609491-C-T p.Ser1345Phe missense ANKAR 2 81944 2.44069E-5 40972 0 4.01494E-6
2-190609493-A-G p.Ile1346Val missense ANKAR 1 81938 1.22043E-5 40969 0 NA
2-190609504-C-T p.Ile1349Ile synonymous ANKAR 665 81890 0.00812065 40945 21 0.0164828
2-190609512-G-A p.Arg1352Lys missense+splice_region ANKAR 1 81862 1.22157E-5 40931 0 NA
2-190609521-G-C c.*584+7G>C splice_region ANKAR 1 81716 1.22375E-5 40858 0 8.41298E-6
2-190611099-T-A c.*585-7T>A splice_region ANKAR 3 82402 3.64069E-5 41201 0 2.53152E-5
2-190611107-GA-TT p.GlyLys1353* stop_gained ANKAR 1 82502 1.21209E-5 41251 0 NA
2-190611112-A-G p.Glu1355Gly missense ANKAR 1 82586 1.21086E-5 41293 0 NA
2-190611117-C-T p.Arg1357* stop_gained ANKAR 2 82646 2.41996E-5 41323 0 8.379E-6
2-190611118-G-A p.Arg1357Gln missense ANKAR 1 82682 1.20945E-5 41341 0 3.18634E-5
2-190611135-A-G p.Lys1363Glu missense ANKAR 106 82950 0.00127788 41475 0 0.00503525
2-190611163-T-C p.Leu1372Ser missense ANKAR 2 83086 2.40714E-5 41543 0 8.26774E-6
2-190611167-A-G p.Leu1373Leu synonymous ANKAR 1 83114 1.20317E-5 41557 0 6.37267E-5
2-190611169-C-G p.Pro1374Arg missense ANKAR 2 83114 2.40633E-5 41557 0 8.03361E-6
2-190611174-G-A p.Val1376Ile missense ANKAR 3 83126 3.60898E-5 41563 0 NA
2-190611174-GTAAC-G p.Asn1378fs frameshift ANKAR 1 83126 1.20299E-5 41563 0 1.65355E-5
2-190611183-T-A p.Phe1379Ile missense ANKAR 1 83144 1.20273E-5 41572 0 NA
2-190611188-G-T p.Met1380Ile missense ANKAR 1301 83108 0.0156543 41554 15 0.0120846
2-190611188-G-A p.Met1380Ile missense ANKAR 3 83140 3.60837E-5 41570 0 NA
2-190611196-TCAAAG-T p.Lys1384fs frameshift ANKAR 1 83146 1.2027E-5 41573 0 NA
2-190611197-CA-C p.Ala1385fs frameshift ANKAR 2 83144 2.40547E-5 41572 0 NA
2-190611244-C-T p.Ser1399Leu missense ANKAR 5 83142 6.01381E-5 41571 0 9.59816E-5
2-190611250-C-T p.Thr1401Ile missense ANKAR 1 83154 1.20259E-5 41577 0 3.98775E-6
2-190611256-C-T p.Thr1403Ile missense ANKAR 4 83158 4.81012E-5 41579 0 5.58116E-5
2-190611263-T-C p.Asp1405Asp synonymous ANKAR 2 83166 2.40483E-5 41583 0 6.36943E-5
2-190611304-A-T p.Gln1419Leu missense ANKAR 699 83134 0.00840811 41567 21 0.0164013
2-190611307-T-C p.Leu1420Pro missense ANKAR 37 83126 4.45107E-4 41563 0 0.00302419
2-190611311-G-A p.Gly1421Gly synonymous ANKAR 1 83112 1.2032E-5 41556 0 4.0059E-6
2-190611317-T-C p.His1423His synonymous ANKAR 2 83108 2.40651E-5 41554 0 8.02536E-6
2-190611323-G-A p.Gln1425Gln synonymous ANKAR 3 83058 3.61193E-5 41529 0 1.00073E-4
2-190611328-C-A p.Ala1427Asp missense ANKAR 1 83024 1.20447E-5 41512 0 8.3605E-6
2-190611339-C-A p.Pro1431Thr missense ANKAR 1 82810 1.20758E-5 41405 0 2.5457E-5
2-190611340-C-T p.Pro1431Leu missense ANKAR 1 82786 1.20793E-5 41393 0 1.69322E-5
2-190625815-GACTA-G c.*585-8_*585-5delACTA splice_region ANKAR 12213 19814 0.616382 9907 4106 0.58739