Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
7-100136854-C-T c.-116C>T 5_prime_UTR_premature_start_codon_gain AGFG2 1 39252 2.54764E-5 19626 0 3.18939E-5
7-100136864-C-T c.-106C>T 5_prime_UTR_premature_start_codon_gain AGFG2 44 41026 0.00107249 20513 0 0.00364078
7-100136876-A-T c.-94A>T 5_prime_UTR_premature_start_codon_gain AGFG2 1 43516 2.29801E-5 21758 0 NA
7-100136927-T-C c.-43T>C 5_prime_UTR_premature_start_codon_gain AGFG2 12 54240 2.21239E-4 27120 0 4.05515E-4
7-100136935-G-T c.-35G>T 5_prime_UTR_premature_start_codon_gain AGFG2 1 56564 1.76791E-5 28282 0 6.43583E-5
7-100136977-TGGCGGC-T p.Ala4_Ala5del conservative_inframe_deletion AGFG2 3 60134 4.98886E-5 30067 0 5.76768E-5
7-100136987-G-T p.Lys6Asn missense AGFG2 2 60706 3.29457E-5 30353 0 NA
7-100136988-A-G p.Lys7Glu missense AGFG2 1 60560 1.65125E-5 30280 0 5.6262E-5
7-100136989-AGGGCCC-A p.Pro11_Gly12del conservative_inframe_deletion AGFG2 1 60662 1.64848E-5 30331 0 NA
7-100136989-A-AGGGCCC p.Pro11_Gly12dup conservative_inframe_insertion AGFG2 1 60666 1.64837E-5 30333 0 1.28634E-4
7-100137006-G-A p.Gly13Ser missense AGFG2 1 60554 1.65142E-5 30277 0 NA
7-100137011-G-C p.Gly14Gly synonymous AGFG2 1 61194 1.63415E-5 30597 0 NA
7-100137013-T-C p.Val15Ala missense AGFG2 1 59934 1.6685E-5 29967 0 NA
7-100137021-G-A p.Gly18Ser missense AGFG2 4 61520 6.50195E-5 30760 0 3.19305E-5
7-100137024-A-AAGGCGG p.Glu23_Ala24dup disruptive_inframe_insertion AGFG2 4 61084 6.54836E-5 30542 0 1.87829E-4
7-100137024-AAGGCGG-A p.Glu23_Ala24del disruptive_inframe_deletion AGFG2 1 61084 1.63709E-5 30542 0 3.97362E-5
7-100137026-G-A p.Lys19Lys synonymous AGFG2 1 61746 1.61954E-5 30873 0 NA
7-100137033-G-T p.Ala22Ser missense AGFG2 1 61202 1.63393E-5 30601 0 NA
7-100137037-A-AGGCGGC p.Ala25_Ser26insAlaAla disruptive_inframe_insertion AGFG2 1 61044 1.63816E-5 30522 0 NA
7-100137053-G-A p.Val28Val synonymous AGFG2 1 61728 1.62001E-5 30864 0 NA
7-100137058-G-C p.Cys30Ser missense AGFG2 3 62036 4.8359E-5 31018 0 NA
7-100137059-C-T p.Cys30Cys synonymous AGFG2 1 61826 1.61744E-5 30913 0 NA
7-100137060-C-G p.Arg31Gly missense AGFG2 1 61394 1.62882E-5 30697 0 1.78955E-4
7-100137065-GGTGCGGGA-G p.Val33fs frameshift AGFG2 1 62700 1.5949E-5 31350 0 4.10678E-5
7-100137066-G-A p.Val33Met missense AGFG2 2 62738 3.18786E-5 31369 0 1.75009E-4
7-100137070-G-A p.Arg34Gln missense AGFG2 1 62630 1.59668E-5 31315 0 NA
7-100137085-G-C p.Cys39Ser missense AGFG2 2273 63650 0.0357109 31825 50 0.105119
7-100137098-G-T p.Gly43Gly synonymous AGFG2 1 65732 1.52133E-5 32866 0 NA
7-100137101-C-G p.Asn44Lys missense AGFG2 1 66032 1.51442E-5 33016 0 NA
7-100137151-C-T p.Thr61Ile missense AGFG2 1 66878 1.49526E-5 33439 0 NA
7-100137153-G-A p.Val62Met missense AGFG2 3 66594 4.50491E-5 33297 0 2.7972E-4
7-100137161-C-A p.Ser64Arg missense AGFG2 1 65708 1.52188E-5 32854 0 NA
7-100137176-C-G p.Thr69Thr synonymous AGFG2 1 63634 1.57149E-5 31817 0 NA
7-100137191-G-GAGAGGGCTGAACCCCCCTCATCGTGTCAAGTCAATCTCCATGACAACTTTCAC c.221+1_221+2insAGAGGGCTGAACCCCCCTCATCGTGTCAAGTCAATCTCCATGACAACTTTCAC splice_donor AGFG2 2 60520 3.30469E-5 30260 1 NA
7-100137192-T-A c.221+2T>A splice_donor AGFG2 1 60052 1.66522E-5 30026 0 NA
7-100146435-TCTCCCATAGGAGAGGGCTGAACCCCC-T p.Arg75fs frameshift AGFG2 2 82868 2.41348E-5 41434 0 7.95551E-6
7-100146441-A-G c.222-4A>G splice_region AGFG2 275 82922 0.00331637 41461 5 0.00640985
7-100146451-G-A p.Gly76Gly synonymous AGFG2 1 82992 1.20494E-5 41496 0 3.18918E-5
7-100146455-A-AC p.Asn78fs frameshift AGFG2 1 82994 1.20491E-5 41497 0 NA
7-100146456-A-C p.Asn78Thr missense AGFG2 1 82986 1.20502E-5 41493 0 NA
7-100146456-A-AC p.His81fs frameshift AGFG2 1 82984 1.20505E-5 41492 0 NA
7-100146462-C-A p.Pro80His missense AGFG2 1 83000 1.20482E-5 41500 0 NA
7-100146467-C-T p.Arg82Cys missense AGFG2 31 83018 3.73413E-4 41509 0 0.00100705
7-100146468-G-A p.Arg82His missense AGFG2 1 83018 1.20456E-5 41509 0 3.97649E-6
7-100146479-A-G p.Ile86Val missense AGFG2 2 83044 2.40836E-5 41522 0 NA
7-100146485-A-G p.Met88Val missense AGFG2 1 83046 1.20415E-5 41523 0 8.23669E-6
7-100146525-C-A p.Ser101Tyr missense AGFG2 2 82952 2.41103E-5 41476 0 7.95298E-6
7-100146544-C-T c.315+6C>T splice_region AGFG2 1 82802 1.2077E-5 41401 0 NA
7-100148016-T-C c.316-3T>C splice_region AGFG2 1 83324 1.20013E-5 41662 0 8.23764E-6
7-100148025-C-T p.Arg108Trp missense AGFG2 1 83364 1.19956E-5 41682 0 NA
7-100148026-G-A p.Arg108Gln missense AGFG2 2 83368 2.399E-5 41684 0 3.19061E-5
7-100148040-G-T p.Gly113Cys missense AGFG2 1 83386 1.19924E-5 41693 0 NA
7-100148055-C-T p.Arg118Trp missense AGFG2 7 83388 8.39449E-5 41694 0 3.18634E-5
7-100148055-C-G p.Arg118Gly missense AGFG2 1 83388 1.19921E-5 41694 0 NA
7-100148056-G-A p.Arg118Gln missense AGFG2 1 83388 1.19921E-5 41694 0 6.25E-4
7-100148059-C-T p.Thr119Ile missense AGFG2 1 83386 1.19924E-5 41693 0 8.23655E-6
7-100148060-A-G p.Thr119Thr synonymous AGFG2 3 83386 3.59773E-5 41693 0 4.94193E-5
7-100148100-G-A p.Glu133Lys missense AGFG2 1 83354 1.1997E-5 41677 0 NA
7-100148101-A-C p.Glu133Ala missense AGFG2 1 83354 1.1997E-5 41677 0 NA
7-100148110-A-G p.Gln136Arg missense AGFG2 1 83334 1.19999E-5 41667 0 NA
7-100148140-GA-G c.431+7delA splice_region AGFG2 1 83256 1.20111E-5 41628 0 NA
7-100148140-G-A c.431+6G>A splice_region AGFG2 5 83256 6.00557E-5 41628 0 8.29339E-6
7-100150976-C-T p.Val146Val synonymous AGFG2 2 83338 2.39987E-5 41669 0 7.96045E-6
7-100150997-G-T p.Gly153Gly synonymous AGFG2 1 83336 1.19996E-5 41668 0 1.19346E-5
7-100151009-C-G p.Thr157Thr synonymous AGFG2 7 83344 8.39893E-5 41672 0 4.12256E-5
7-100151009-C-CA p.Gly159fs frameshift AGFG2 1 83346 1.19982E-5 41673 0 NA
7-100151010-A-G p.Lys158Glu missense AGFG2 1 83348 1.19979E-5 41674 0 NA
7-100151023-C-G p.Ser162Cys missense AGFG2 1 83328 1.20008E-5 41664 0 NA
7-100151027-C-T p.Thr163Thr synonymous AGFG2 1 83332 1.20002E-5 41666 0 8.24212E-6
7-100151051-A-G p.Glu171Glu synonymous AGFG2 1 83290 1.20062E-5 41645 0 8.24022E-6
7-100151059-C-T p.Pro174Leu missense AGFG2 6 83266 7.20582E-5 41633 1 0.001875
7-100151065-G-A p.Arg176Gln missense AGFG2 1 83244 1.20129E-5 41622 0 8.24103E-6
7-100151078-T-A p.Gly180Gly synonymous AGFG2 4 83236 4.80561E-5 41618 0 4.2039E-4
7-100151090-G-A p.Pro184Pro synonymous AGFG2 1 83234 1.20143E-5 41617 0 8.83187E-5
7-100151094-C-T p.Leu186Phe missense AGFG2 1 83234 1.20143E-5 41617 0 NA
7-100151106-G-A p.Ala190Thr missense AGFG2 1 83234 1.20143E-5 41617 0 4.04999E-5
7-100151111-C-T p.Ser191Ser synonymous AGFG2 2 83222 2.40321E-5 41611 0 NA
7-100151113-C-T p.Thr192Ile missense AGFG2 1 83210 1.20178E-5 41605 0 NA
7-100151114-C-G p.Thr192Thr synonymous AGFG2 1 83194 1.20201E-5 41597 0 4.08553E-6
7-100151116-C-T p.Ser193Leu missense AGFG2 3 83172 3.60698E-5 41586 0 0.0025
7-100151117-G-A p.Ser193Ser synonymous AGFG2 1 83148 1.20267E-5 41574 0 8.27458E-6
7-100151117-G-C p.Ser193Ser synonymous AGFG2 1 83148 1.20267E-5 41574 0 NA
7-100151122-A-G p.Gln195Arg missense+splice_region AGFG2 1 83104 1.20331E-5 41552 0 NA
7-100151719-G-A p.Val197Ile missense AGFG2 1636 82774 0.0197647 41387 75 0.0373605
7-100151724-T-G p.Ser198Arg missense AGFG2 1 82914 1.20607E-5 41457 0 NA
7-100151733-C-T p.His201His synonymous AGFG2 4 83028 4.81765E-5 41514 0 3.19576E-5
7-100151734-G-A p.Ala202Thr missense AGFG2 124 83014 0.00149372 41507 0 0.00176843
7-100151738-G-A p.Arg203Gln missense AGFG2 1 83034 1.20433E-5 41517 0 8.28542E-6
7-100151752-C-T p.Arg208Trp missense AGFG2 2 83110 2.40645E-5 41555 0 5.03525E-4
7-100151754-G-A p.Arg208Arg synonymous AGFG2 1 83124 1.20302E-5 41562 0 6.36862E-5
7-100151768-C-A p.Pro213His missense AGFG2 1 83178 1.20224E-5 41589 0 0.00100705
7-100151774-A-C p.His215Pro missense AGFG2 4 83166 4.80966E-5 41583 0 6.3804E-5
7-100151790-A-AGCCAGTACT p.Ala221_Thr223dup disruptive_inframe_insertion AGFG2 1 83190 1.20207E-5 41595 0 4.77422E-5
7-100151791-GC-G p.Ser222fs frameshift AGFG2 3 83174 3.6069E-5 41587 0 7.95849E-5
7-100151807-T-C p.Leu226Pro missense AGFG2 1 83150 1.20265E-5 41575 0 NA
7-100151808-G-A p.Leu226Leu synonymous AGFG2 1 83142 1.20276E-5 41571 0 NA
7-100151815-A-G p.Ile229Val missense AGFG2 2 83076 2.40743E-5 41538 0 8.259E-6
7-100151817-C-T p.Ile229Ile synonymous AGFG2 3 83068 3.6115E-5 41534 0 5.78226E-5
7-100151818-G-A p.Gly230Ser missense AGFG2 2 83060 2.4079E-5 41530 0 4.77696E-5
7-100151825-A-G p.Asp232Gly missense AGFG2 1 82968 1.20528E-5 41484 0 NA
7-100151827-C-A p.Pro233Thr missense AGFG2 1 82960 1.2054E-5 41480 0 NA
7-100151836-G-A p.Ala236Thr missense AGFG2 2 82824 2.41476E-5 41412 0 3.18431E-5
7-100151851-C-T p.Pro241Ser missense AGFG2 1 82544 1.21148E-5 41272 0 3.18512E-5
7-100151861-C-T p.Ala244Val missense AGFG2 1 82226 1.21616E-5 41113 0 NA
7-100151878-G-T p.Gly250Trp missense AGFG2 1 81298 1.23004E-5 40649 0 1.71051E-5
7-100151879-G-T p.Gly250Val missense+splice_region AGFG2 1 81260 1.23062E-5 40630 0 4.04757E-6
7-100151881-G-T p.Gly251Cys missense+splice_region AGFG2 1 81070 1.2335E-5 40535 0 NA
7-100153226-C-A c.432-7C>A splice_region AGFG2 3 83030 3.61315E-5 41515 0 1.59236E-5
7-100153239-C-T p.Thr253Ile missense AGFG2 3 83200 3.60577E-5 41600 0 1.64902E-5
7-100153253-G-C p.Arg151Thr missense AGFG2 1 83274 1.20085E-5 41637 0 NA
7-100153256-T-C p.Leu152Pro missense AGFG2 1 83284 1.20071E-5 41642 0 NA
7-100153283-G-A p.Gly268Ser missense AGFG2 1 83312 1.20031E-5 41656 0 8.23737E-6
7-100153288-C-T p.Pro269Pro synonymous AGFG2 8 83314 9.60223E-5 41657 0 3.1839E-4
7-100153297-T-C p.Ser272Ser synonymous AGFG2 2 83324 2.40027E-5 41662 0 3.97636E-6
7-100153299-T-G p.Val273Gly missense AGFG2 1 83322 1.20016E-5 41661 0 1.15317E-4
7-100153307-A-G p.Ser276Gly missense AGFG2 1 83304 1.20042E-5 41652 0 8.23723E-6
7-100153309-C-G p.Ser276Arg missense AGFG2 3 83288 3.60196E-5 41644 0 1.59236E-4
7-100153309-C-T p.Ser276Ser synonymous AGFG2 1 83288 1.20065E-5 41644 0 3.97655E-6
7-100153317-C-T p.Pro279Leu missense AGFG2 3 83288 3.60196E-5 41644 0 NA
7-100153333-G-T p.Ser284Ser synonymous AGFG2 35 83248 4.20431E-4 41624 0 9.55657E-4
7-100153338-A-T p.Gln286Leu missense AGFG2 2 83246 2.40252E-5 41623 0 6.37186E-5
7-100153339-G-A p.Gln286Gln synonymous AGFG2 1 83238 1.20137E-5 41619 0 NA
7-100153358-G-GCCA c.*89_*89+1insCCA splice_donor AGFG2 1 83142 1.20276E-5 41571 0 NA
7-100153360-T-TCGGATGCTAACTGAAAGTTACAGCTTTGGGAGCAGCCAGGGG c.*89+2_*89+3insCGGATGCTAACTGAAAGTTACAGCTTTGGGAGCAGCCAGGGG splice_region AGFG2 1 83102 1.20334E-5 41551 0 NA
7-100154214-C-G c.68-3C>G splice_region AGFG2 1 76836 1.30147E-5 38418 0 NA
7-100154222-C-T p.Arg25Trp missense AGFG2 12 76846 1.56156E-4 38423 0 0.00187898
7-100154228-C-T p.Leu27Leu synonymous AGFG2 1 76870 1.3009E-5 38435 0 NA
7-100154232-C-G p.Thr28Ser missense AGFG2 1 76860 1.30107E-5 38430 0 NA
7-100154245-CT-C p.Phe33fs frameshift AGFG2 2 76832 2.60308E-5 38416 0 3.18492E-5
7-100154254-GTTA-G c.100+6_100+8delTTA splice_region AGFG2 1 76788 1.30229E-5 38394 0 1.46346E-5
7-100154257-A-G c.100+8A>G splice_region AGFG2 1 76762 1.30273E-5 38381 0 NA
7-100159885-G-A p.Ser294Asn missense AGFG2 1 81308 1.22989E-5 40654 0 3.18959E-5
7-100159897-C-T p.Thr298Ile missense AGFG2 27 81500 3.31288E-4 40750 0 3.77618E-4
7-100159910-C-A p.Ala302Ala synonymous AGFG2 1 81442 1.22787E-5 40721 0 1.6043E-5
7-100159912-C-T p.Thr303Ile missense AGFG2 1 81428 1.22808E-5 40714 0 NA
7-100159925-C-T p.Pro307Pro synonymous AGFG2 250 82374 0.00303494 41187 2 0.00714104
7-100159926-G-A p.Ala308Thr missense AGFG2 452 82382 0.00548664 41191 3 0.00924686
7-100159944-C-T p.Leu314Phe missense AGFG2 4 82606 4.84226E-5 41303 0 NA
7-100159946-C-T p.Leu314Leu synonymous AGFG2 1 82560 1.21124E-5 41280 0 8.32348E-6
7-100159953-G-A p.Val317Met missense AGFG2 2 82530 2.42336E-5 41265 0 7.96984E-6
7-100159960-G-C p.Ser319Thr missense AGFG2 3 82504 3.63619E-5 41252 0 1.9926E-5
7-100159973-C-T p.Pro323Pro synonymous AGFG2 2 82372 2.42801E-5 41186 0 5.83401E-5
7-100159978-T-C p.Val325Ala missense AGFG2 1 82270 1.21551E-5 41135 0 NA
7-100159979-G-C p.Val325Val synonymous AGFG2 1 82300 1.21507E-5 41150 0 NA
7-100159980-C-G p.Pro326Ala missense AGFG2 1 82296 1.21513E-5 41148 0 NA
7-100159982-C-T p.Pro326Pro synonymous AGFG2 9 82286 1.09375E-4 41143 0 6.25782E-4
7-100159984-C-T p.Ala327Val missense AGFG2 1 82278 1.21539E-5 41139 0 NA
7-100159986-G-C p.Ala328Pro missense AGFG2 83 82308 0.00100841 41154 0 0.00207244
7-100160223-C-T p.Phe335Phe synonymous AGFG2 3 82370 3.6421E-5 41185 0 5.07614E-4
7-100160242-C-T p.Pro342Ser missense AGFG2 3 82412 3.64025E-5 41206 0 1.32877E-4
7-100160246-C-G p.Pro343Arg missense AGFG2 7 82366 8.49865E-5 41183 0 6.64673E-5
7-100160246-C-T p.Pro343Leu missense AGFG2 3 82366 3.64228E-5 41183 0 9.56572E-5
7-100160247-G-A p.Pro343Pro synonymous AGFG2 2 82304 2.43002E-5 41152 0 6.25E-4
7-100160255-C-G p.Ser346Cys missense AGFG2 2 82354 2.42854E-5 41177 0 4.00805E-6
7-100160261-C-T p.Thr348Met missense AGFG2 15 82256 1.82358E-4 41128 1 7.64415E-5
7-100160262-G-C p.Thr348Thr synonymous AGFG2 2 82266 2.43114E-5 41133 0 1.67274E-5
7-100160264-T-C p.Met349Thr missense AGFG2 15756 81852 0.192494 40926 1687 0.214375
7-100160264-TG-CC p.Met349Thr missense AGFG2 1 82210 1.2164E-5 41105 0 NA
7-100160265-G-GGGC p.Gly354dup conservative_inframe_insertion AGFG2 33 82218 4.01372E-4 41109 0 6.33885E-4
7-100160265-GGGC-G p.Gly354del conservative_inframe_deletion AGFG2 7 82176 8.5183E-5 41088 0 2.02843E-4
7-100160268-C-T p.Gly350Gly synonymous AGFG2 5 82070 6.09236E-5 41035 0 2.23514E-4
7-100160269-G-T p.Gly351Cys missense AGFG2 9 82104 1.09617E-4 41052 0 9.56755E-5
7-100160269-G-A p.Gly351Ser missense AGFG2 5 82104 6.08984E-5 41052 0 3.18918E-5
7-100160271-C-T p.Gly351Gly synonymous AGFG2 3 82038 3.65684E-5 41019 0 4.05314E-5
7-100160272-G-A p.Gly352Ser missense AGFG2 2 82028 2.43819E-5 41014 0 1.44538E-4
7-100160274-C-T p.Gly352Gly synonymous AGFG2 43 81930 5.24838E-4 40965 0 0.00151362
7-100160275-G-A p.Gly353Ser missense AGFG2 4 81944 4.88138E-5 40972 0 4.4702E-5
7-100160277-C-T p.Gly353Gly synonymous AGFG2 4 81816 4.88902E-5 40908 0 8.54073E-6
7-100160278-G-A p.Gly354Ser missense AGFG2 2 81816 2.44451E-5 40908 0 6.84088E-5
7-100160281-A-G p.Ser355Gly missense AGFG2 2 81728 2.44714E-5 40864 0 3.42747E-5
7-100160296-G-C p.Ala360Pro missense AGFG2 2 81404 2.45688E-5 40702 0 NA
7-100160302-G-C p.Gly362Arg missense AGFG2 2 81314 2.4596E-5 40657 0 NA
7-100160304-A-G p.Gly362Gly splice_region+synonymous AGFG2 25 81180 3.07958E-4 40590 0 8.74768E-6
7-100160309-A-G c.*299+4A>G splice_region AGFG2 1 80970 1.23503E-5 40485 0 6.37796E-5
7-100160497-C-T p.Pro367Ser missense AGFG2 3 82944 3.6169E-5 41472 0 NA
7-100160503-A-G p.Thr369Ala missense AGFG2 1 82928 1.20587E-5 41464 0 8.27486E-6
7-100160505-A-G p.Thr369Thr synonymous AGFG2 9 82916 1.08544E-4 41458 0 0.00162752
7-100160508-T-C p.Ala370Ala synonymous AGFG2 1 82862 1.20683E-5 41431 0 NA
7-100160510-C-T p.Pro371Leu missense AGFG2 2 82926 2.41179E-5 41463 0 NA
7-100160511-C-T p.Pro371Pro synonymous AGFG2 16 82904 1.92994E-4 41452 0 7.48288E-4
7-100160514-C-T p.Ala372Ala synonymous AGFG2 3 82892 3.61917E-5 41446 0 7.96014E-6
7-100160525-C-T p.Pro376Leu missense AGFG2 5 82832 6.03631E-5 41416 0 9.15693E-5
7-100160526-G-A p.Pro376Pro synonymous AGFG2 2 82786 2.41587E-5 41393 0 1.27494E-4
7-100160529-G-A p.Leu377Leu synonymous AGFG2 6 82784 7.24778E-5 41392 0 7.56478E-5
7-100160531-CTTCCACCAACCCG-C p.Thr380fs frameshift AGFG2 2 82784 2.41593E-5 41392 0 NA
7-100160538-C-T p.Thr380Thr synonymous AGFG2 1 82748 1.20849E-5 41374 0 1.67751E-5
7-100160543-C-T p.Pro382Leu missense AGFG2 2 82714 2.41797E-5 41357 0 1.99222E-5
7-100160544-G-A n.800+1G>A splice_donor AGFG2 3 82666 3.62906E-5 41333 0 3.18654E-5
7-100160545-T-C n.800+2T>C splice_donor AGFG2 1 82676 1.20954E-5 41338 0 NA
7-100160564-C-T p.Ala389Val missense AGFG2 1 82420 1.2133E-5 41210 0 9.55779E-5
7-100160567-C-T p.Pro390Leu missense+splice_region AGFG2 2 82408 2.42695E-5 41204 0 NA
7-100161450-T-TC c.*384-7_*384-6insC splice_region AGFG2 2 80540 2.48324E-5 40270 0 2.23029E-4
7-100161450-TCCATAGGGC-T c.*384-6_*386delCCATAGGGC splice_acceptor AGFG2 1 80540 1.24162E-5 40270 0 NA
7-100161461-CGGCTTTGGGATGAGCAGTGCTGGGCCT-C p.Gly395_Phe403del disruptive_inframe_deletion AGFG2 6 81244 7.38516E-5 40622 0 9.56084E-5
7-100161462-G-A p.Gly393Ser missense AGFG2 1 81316 1.22977E-5 40658 0 1.60883E-5
7-100161469-G-A p.Gly395Glu missense AGFG2 1 81758 1.22312E-5 40879 0 NA
7-100161477-A-G p.Ser398Gly missense AGFG2 1 81948 1.22029E-5 40974 0 NA
7-100161481-C-T p.Ala399Val missense AGFG2 1 82072 1.21844E-5 41036 0 8.02459E-6
7-100161482-T-G p.Ala399Ala synonymous AGFG2 3 82130 3.65275E-5 41065 0 3.18532E-5
7-100161490-G-C p.Gly402Ala missense AGFG2 1 82322 1.21474E-5 41161 0 NA
7-100161498-C-T p.Gln405* stop_gained AGFG2 1 82528 1.21171E-5 41264 0 NA
7-100161513-A-C p.Thr410Pro missense AGFG2 10 82676 1.20954E-4 41338 0 1.59327E-4
7-100161519-G-T p.Ala412Ser missense AGFG2 3 82712 3.62704E-5 41356 0 NA
7-100161525-G-T p.Ala414Ser missense AGFG2 1 82766 1.20823E-5 41383 0 3.18552E-5
7-100161525-G-A p.Ala414Thr missense AGFG2 3 82766 3.62468E-5 41383 0 1.65574E-5
7-100161526-C-T p.Ala414Val missense AGFG2 1 82772 1.20814E-5 41386 0 NA
7-100161531-TC-AA p.Ser416Asn missense AGFG2 4 82822 4.82963E-5 41411 0 NA
7-100161544-C-T p.Pro420Leu missense AGFG2 13 82864 1.56884E-4 41432 0 1.65505E-5
7-100161548-G-T p.Leu421Leu synonymous AGFG2 2 82884 2.41301E-5 41442 0 8.2765E-6
7-100161548-G-A p.Leu421Leu synonymous AGFG2 1 82884 1.20651E-5 41442 0 3.18634E-5
7-100161551-C-A p.Phe422Leu missense AGFG2 1 82906 1.20619E-5 41453 0 4.0247E-6
7-100161555-C-T p.Pro424Ser missense AGFG2 1 82934 1.20578E-5 41467 0 1.20754E-5
7-100161556-C-T p.Pro424Leu missense AGFG2 1 82950 1.20555E-5 41475 0 NA
7-100161557-G-A p.Pro424Pro synonymous AGFG2 39 82944 4.70197E-4 41472 0 6.05713E-4
7-100161562-C-T p.Thr426Ile missense AGFG2 1 82948 1.20557E-5 41474 0 NA
7-100161563-C-G p.Thr426Thr synonymous AGFG2 7 82948 8.43902E-5 41474 2 NA
7-100161565-C-T p.Pro427Leu missense AGFG2 1 82956 1.20546E-5 41478 0 3.31285E-5
7-100161566-G-A p.Pro427Pro synonymous AGFG2 8 82944 9.64506E-5 41472 0 0.00125313
7-100161567-C-T p.Leu428Phe missense AGFG2 1 82962 1.20537E-5 41481 0 NA
7-100161586-G-T c.*512+1G>T splice_donor AGFG2 1 82878 1.20659E-5 41439 0 2.43059E-5
7-100161837-C-G c.*513-4C>G splice_region AGFG2 5 81822 6.11083E-5 40911 0 3.18593E-4
7-100161842-C-A p.Gly434Gly splice_region+synonymous AGFG2 2 81906 2.44182E-5 40953 0 NA
7-100161851-C-T p.Phe437Phe synonymous AGFG2 2 81946 2.44063E-5 40973 0 3.18593E-5
7-100161855-G-A p.Asp439Asn missense AGFG2 3 81974 3.6597E-5 40987 0 1.02162E-4
7-100161858-T-TTAGG p.Ser442fs frameshift AGFG2 2 81998 2.43908E-5 40999 0 2.82406E-5
7-100161862-G-A p.Gly441Glu missense AGFG2 4 82042 4.87555E-5 41021 0 9.78454E-6
7-100161869-C-T p.Ala443Ala synonymous AGFG2 1 82062 1.21859E-5 41031 0 9.48821E-6
7-100161873-T-C p.Leu445Leu synonymous AGFG2 1 82100 1.21803E-5 41050 0 9.37067E-6
7-100161877-G-A p.Gly446Glu missense AGFG2 1 82108 1.21791E-5 41054 0 NA
7-100161888-C-T n.801-5C>T splice_region AGFG2 1 82086 1.21823E-5 41043 0 9.15466E-6
7-100161900-G-C p.Ala454Pro missense AGFG2 3 82086 3.6547E-5 41043 0 2.22973E-4
7-100161920-C-G p.Pro460Pro synonymous AGFG2 1 81924 1.22064E-5 40962 0 NA
7-100162558-G-A p.Gly464Arg missense AGFG2 1 83362 1.19959E-5 41681 0 NA
7-100162566-A-G p.Ser466Ser synonymous AGFG2 15 83384 1.79891E-4 41692 0 1.91133E-4
7-100162578-C-T p.Phe470Phe synonymous AGFG2 1 83382 1.1993E-5 41691 0 3.58292E-5
7-100162582-T-C p.Ser472Pro missense AGFG2 1 83382 1.1993E-5 41691 0 8.23655E-6
7-100162594-A-T p.Thr476Ser missense AGFG2 6 83378 7.19614E-5 41689 0 1.15314E-4
7-100162598-C-T p.Thr477Ile missense AGFG2 2 83378 2.39871E-5 41689 0 3.97839E-6
7-100162869-G-A c.*255G>A splice_region AGFG2 14 59252 2.36279E-4 29626 0 6.36821E-5
7-100163269-T-C c.*1313T>C splice_region AGFG2 2 44904 4.45395E-5 22452 0 NA
7-100163584-A-G n.1864A>G splice_region AGFG2 4 44894 8.90988E-5 22447 0 3.21234E-5