Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
5-76326231-C-T c.-361C>T 5_prime_UTR_premature_start_codon_gain AGGF1 1 12512 7.99233E-5 6256 0 1.96194E-4
5-76326250-G-A p.Leu5Leu synonymous AGGF1 1 12728 7.85669E-5 6364 0 3.08133E-5
5-76326254-A-T p.Ser7Cys missense AGGF1 1 12690 7.88022E-5 6345 0 NA
5-76326262-G-T p.Trp9Cys missense AGGF1 1 12996 7.69468E-5 6498 0 9.34754E-5
5-76326264-G-C p.Ser10Thr missense AGGF1 6 13088 4.58435E-4 6544 0 0.00137506
5-76326275-C-T p.Leu14Phe missense AGGF1 1 13720 7.28863E-5 6860 0 9.31272E-5
5-76326298-C-T c.-294C>T 5_prime_UTR_premature_start_codon_gain AGGF1 7 15666 4.46828E-4 7833 0 0.0019428
5-76326299-G-A p.Asp22Asn missense AGGF1 1 15806 6.32671E-5 7903 0 3.82333E-5
5-76326303-C-G p.Ala23Gly missense AGGF1 2 16474 1.21403E-4 8237 0 NA
5-76326309-C-T p.Pro25Leu missense AGGF1 1 17638 5.66958E-5 8819 0 2.29351E-5
5-76326312-C-G p.Ser26Cys missense AGGF1 7 18392 3.806E-4 9196 0 8.35965E-4
5-76326318-C-A p.Ser28Tyr missense AGGF1 1 19874 5.0317E-5 9937 0 NA
5-76326328-A-T p.Gly31Gly synonymous AGGF1 2 22378 8.93735E-5 11189 0 9.29023E-5
5-76326340-C-G p.Phe35Leu missense AGGF1 2 25542 7.83024E-5 12771 0 6.25E-4
5-76326340-C-T p.Phe35Phe synonymous AGGF1 1 25542 3.91512E-5 12771 0 NA
5-76326353-C-T p.Pro40Ser missense AGGF1 1 27586 3.62503E-5 13793 0 NA
5-76326363-G-C p.Arg43Thr missense AGGF1 1 28890 3.46141E-5 14445 0 3.18492E-5
5-76326364-G-T p.Arg43Ser missense AGGF1 186 28940 0.00642709 14470 0 0.00729346
5-76326365-C-T p.Pro44Ser missense AGGF1 1 29006 3.44756E-5 14503 0 3.18512E-5
5-76326375-C-A p.Ser47* stop_gained AGGF1 1 29958 3.33801E-5 14979 0 1.2738E-4
5-76326376-G-A p.Ser47Ser synonymous AGGF1 1 29988 3.33467E-5 14994 0 2.22944E-4
5-76326379-C-T p.Gly48Gly synonymous AGGF1 3 30328 9.89185E-5 15164 0 1.27413E-4
5-76326420-C-A p.Pro62Gln missense AGGF1 1 35966 2.7804E-5 17983 0 6.36902E-5
5-76326428-T-A p.Tyr65Asn missense AGGF1 2 37610 5.31773E-5 18805 0 NA
5-76326432-A-G p.Lys66Arg missense+splice_region AGGF1 1 38278 2.61247E-5 19139 0 9.67118E-5
5-76326545-C-T c.-47C>T 5_prime_UTR_premature_start_codon_gain AGGF1 4 54692 7.31368E-5 27346 0 6.37755E-5
5-76326579-C-T c.-13C>T 5_prime_UTR_premature_start_codon_gain AGGF1 1 55986 1.78616E-5 27993 0 1.83664E-5
5-76326597-C-T p.Ala2Ala synonymous AGGF1 2 58010 3.44768E-5 29005 0 6.054E-5
5-76326599-C-G p.Ser3Trp missense AGGF1 1 57988 1.72449E-5 28994 0 6.37633E-5
5-76326605-C-A p.Ala5Glu missense AGGF1 1 57916 1.72664E-5 28958 0 3.34076E-4
5-76326605-C-G p.Ala5Gly missense AGGF1 2 57916 3.45328E-5 28958 0 6.37836E-5
5-76326606-G-A p.Ala5Ala synonymous AGGF1 1 58230 1.71733E-5 29115 0 NA
5-76326612-C-T p.Ser7Ser synonymous AGGF1 1 60236 1.66014E-5 30118 0 NA
5-76326614-C-T p.Pro8Leu missense AGGF1 1 60508 1.65267E-5 30254 0 NA
5-76326616-C-CCGCGGT p.Arg10_Ser11dup disruptive_inframe_insertion AGGF1 1 60604 1.65006E-5 30302 0 NA
5-76326619-C-T p.Arg10Trp missense AGGF1 1 60700 1.64745E-5 30350 0 1.45152E-5
5-76326620-G-T p.Arg10Leu missense AGGF1 1 60832 1.64387E-5 30416 0 9.59693E-6
5-76326622-T-TCGCCGC p.Pro14_Pro15dup disruptive_inframe_insertion AGGF1 2 60634 3.29848E-5 30317 0 6.38488E-5
5-76326622-TCGC-T p.Pro15del disruptive_inframe_deletion AGGF1 1 60618 1.64967E-5 30309 0 9.58185E-6
5-76326622-T-TCGC p.Pro15dup disruptive_inframe_insertion AGGF1 4 60634 6.59696E-5 30317 0 1.91546E-4
5-76326635-C-T p.Pro15Leu missense AGGF1 1 63836 1.56651E-5 31918 0 1.32007E-5
5-76326641-C-T p.Ser17Phe missense AGGF1 2 65238 3.0657E-5 32619 0 4.97129E-5
5-76326643-C-G p.Pro18Ala missense AGGF1 1 65586 1.52472E-5 32793 0 3.18613E-5
5-76326644-C-T p.Pro18Leu missense AGGF1 3 65776 4.56093E-5 32888 0 NA
5-76326648-G-A p.Glu19Glu synonymous AGGF1 2 66436 3.01042E-5 33218 0 NA
5-76326649-C-G p.Pro20Ala missense AGGF1 2 66690 2.99895E-5 33345 0 1.07759E-5
5-76326650-C-T p.Pro20Leu missense AGGF1 11 67128 1.63866E-4 33564 0 0.0025
5-76326660-C-A p.Ala23Ala synonymous AGGF1 1 68948 1.45037E-5 34474 0 2.07924E-5
5-76326673-A-C p.Lys28Gln missense AGGF1 2 71084 2.81357E-5 35542 0 4.11029E-6
5-76326675-G-A p.Lys28Lys synonymous AGGF1 236 71612 0.00329554 35806 0 0.00370544
5-76326677-TGGA-T p.Glu30del conservative_inframe_deletion AGGF1 1 71548 1.39766E-5 35774 0 NA
5-76326694-G-C p.Glu35Gln missense AGGF1 2 73426 2.72383E-5 36713 0 4.0782E-6
5-76326726-G-A p.Glu45Glu synonymous AGGF1 1 73280 1.36463E-5 36640 0 NA
5-76326730-G-C p.Glu47Gln missense AGGF1 1 73214 1.36586E-5 36607 0 4.07647E-6
5-76326731-A-G p.Glu47Gly missense AGGF1 2 73236 2.7309E-5 36618 0 1.68907E-5
5-76326750-A-G p.Thr53Thr synonymous AGGF1 2 72164 2.77147E-5 36082 0 1.68717E-5
5-76326754-C-T p.Arg55Trp missense AGGF1 4 71558 5.58987E-5 35779 0 6.37308E-5
5-76326787-G-A p.Glu66Lys missense AGGF1 1 65680 1.52253E-5 32840 0 4.12211E-6
5-76326789-G-T p.Glu66Asp missense AGGF1 2 64770 3.08785E-5 32385 0 1.68973E-5
5-76326798-G-A p.Thr69Thr synonymous AGGF1 2 61904 3.23081E-5 30952 0 7.61202E-5
5-76326804-G-T c.210+3G>T splice_region AGGF1 1 60490 1.65317E-5 30245 0 3.18451E-5
5-76330244-T-G p.Val71Gly missense+splice_region AGGF1 1 82256 1.21572E-5 41128 0 NA
5-76330255-A-G p.Ser75Gly missense AGGF1 1 82500 1.21212E-5 41250 0 3.97994E-6
5-76330270-C-T p.Arg80Cys missense AGGF1 2 82646 2.41996E-5 41323 0 1.65125E-5
5-76330271-G-A p.Arg80His missense AGGF1 2 82626 2.42055E-5 41313 0 6.25E-4
5-76330288-A-G p.Asn86Asp missense AGGF1 1 82766 1.20823E-5 41383 0 1.19342E-5
5-76330292-A-G p.Lys87Arg missense AGGF1 1 82788 1.2079E-5 41394 0 8.24633E-6
5-76330293-A-T p.Lys87Asn missense AGGF1 1 82782 1.20799E-5 41391 0 1.19338E-5
5-76330305-A-G p.Ter87Trpext*? stop_lost AGGF1 1 82788 1.2079E-5 41394 0 NA
5-76330326-T-C p.His98His synonymous AGGF1 24 82700 2.90206E-4 41350 0 1.94919E-4
5-76330331-C-T p.Pro100Leu missense AGGF1 1 82652 1.20989E-5 41326 0 3.97801E-6
5-76330338-A-G p.Ser102Ser synonymous AGGF1 1 82578 1.21098E-5 41289 0 3.97817E-6
5-76330351-T-C c.313+6T>C splice_region AGGF1 853 82384 0.010354 41192 23 0.0187237
5-76331368-T-A p.Tyr106Asn missense+splice_region AGGF1 1 82672 1.2096E-5 41336 0 2.4101E-5
5-76331381-C-T p.Thr110Met missense AGGF1 6 82888 7.23868E-5 41444 0 6.25E-4
5-76331382-G-A p.Thr110Thr synonymous AGGF1 4 82890 4.82567E-5 41445 0 7.05841E-5
5-76331384-A-G p.Tyr111Cys missense AGGF1 1 82930 1.20584E-5 41465 0 NA
5-76331387-A-G p.Tyr112Cys missense AGGF1 70 82956 8.43821E-4 41478 0 0.00252016
5-76331389-A-G p.Asn113Asp missense AGGF1 1 82972 1.20523E-5 41486 0 NA
5-76331394-C-T p.Asp114Asp synonymous AGGF1 1 82992 1.20494E-5 41496 0 7.97264E-6
5-76331395-G-A p.Val115Ile missense AGGF1 3 82998 3.61454E-5 41499 0 4.38464E-5
5-76331407-A-G p.Asn119Asp missense AGGF1 2 83062 2.40784E-5 41531 0 3.98419E-6
5-76331419-G-A p.Glu123Lys missense AGGF1 152 83088 0.00182939 41544 0 0.00379295
5-76331436-A-C p.Gln128His missense AGGF1 1 83118 1.20311E-5 41559 0 1.19415E-5
5-76331449-G-A p.Glu133Lys missense AGGF1 1220 83084 0.0146839 41542 16 0.0171198
5-76331451-A-G p.Glu133Glu synonymous AGGF1 4 83130 4.81174E-5 41565 0 4.95442E-5
5-76331456-C-G p.Ser135Cys missense AGGF1 1 83130 1.20294E-5 41565 0 3.97994E-6
5-76331458-A-G p.Ile136Val missense AGGF1 2 83130 2.40587E-5 41565 0 6.25E-4
5-76331468-C-G p.Ser139Cys missense AGGF1 1 83110 1.20322E-5 41555 0 NA
5-76331469-T-G p.Ser139Ser synonymous AGGF1 2 83114 2.40633E-5 41557 0 8.25069E-6
5-76331470-A-G p.Lys140Glu missense AGGF1 1 83120 1.20308E-5 41560 0 1.07257E-4
5-76331472-AGA-TGT p.LysAsp140AsnVal missense AGGF1 1 83126 1.20299E-5 41563 0 NA
5-76331478-T-C p.His142His synonymous AGGF1 1 83124 1.20302E-5 41562 0 NA
5-76331485-G-A p.Val145Ile missense AGGF1 3 83108 3.60976E-5 41554 0 6.37308E-5
5-76331492-ATGAT-A p.Asn147fs frameshift AGGF1 1 83090 1.20351E-5 41545 0 NA
5-76331511-C-T p.Thr153Thr synonymous AGGF1 3 83090 3.61054E-5 41545 0 2.38791E-5
5-76331531-AAT-A p.Tyr161fs frameshift AGGF1 1 83056 1.20401E-5 41528 0 3.18471E-5
5-76331556-C-T p.Ala168Ala synonymous AGGF1 1 82972 1.20523E-5 41486 0 NA
5-76331569-G-GAGCCAGCA p.Val173fs frameshift AGGF1 2 82888 2.41289E-5 41444 1 NA
5-76331569-G-GAGCCAGCATCTGCATTAGCAACAGAAGATACCTCCT c.516+1_516+2insAGCCAGCATCTGCATTAGCAACAGAAGATACCTCCT splice_donor AGGF1 2 82890 2.41284E-5 41445 1 NA
5-76332377-A-G c.517-4A>G splice_region AGGF1 2 83126 2.40599E-5 41563 0 1.19643E-5
5-76332402-A-G p.Thr180Ala missense AGGF1 1 83120 1.20308E-5 41560 0 8.26241E-6
5-76332412-C-A p.Thr183Asn missense AGGF1 1 83110 1.20322E-5 41555 0 3.97943E-6
5-76332435-G-C p.Ala191Pro missense AGGF1 1 83118 1.20311E-5 41559 0 NA
5-76332439-A-C p.Glu192Ala missense AGGF1 2 83128 2.40593E-5 41564 0 3.29968E-5
5-76332453-G-A p.Ala197Thr missense AGGF1 1 83164 1.20244E-5 41582 0 NA
5-76332463-C-T p.Ala200Val missense AGGF1 2 83186 2.40425E-5 41593 0 3.98514E-6
5-76332464-G-A p.Ala200Ala synonymous AGGF1 1 83198 1.20195E-5 41599 0 1.59131E-5
5-76332465-G-A p.Ala201Thr missense AGGF1 1 83188 1.2021E-5 41594 0 NA
5-76332474-C-T p.Gln204* stop_gained AGGF1 1 83208 1.20181E-5 41604 0 NA
5-76332476-G-C p.Gln204His missense AGGF1 2 83212 2.4035E-5 41606 0 NA
5-76332491-T-C p.Tyr209Tyr synonymous AGGF1 2 83192 2.40408E-5 41596 0 NA
5-76332493-A-T p.Asp210Val missense AGGF1 1 83188 1.2021E-5 41594 0 3.97807E-6
5-76332509-G-A p.Leu215Leu synonymous AGGF1 3 83040 3.61272E-5 41520 0 NA
5-76332519-C-T p.His219Tyr missense AGGF1 1 82800 1.20773E-5 41400 0 NA
5-76332535-A-G p.Tyr224Cys missense AGGF1 3 82290 3.64564E-5 41145 0 3.58958E-5
5-76332548-A-G c.681+3A>G splice_region AGGF1 3 81694 3.67224E-5 40847 0 1.67676E-5
5-76335351-C-T c.682-5C>T splice_region AGGF1 1 81740 1.22339E-5 40870 0 2.21976E-5
5-76335358-A-G p.Glu228Glu splice_region+synonymous AGGF1 7 81926 8.5443E-5 40963 0 1.34676E-4
5-76335360-A-G p.Asn229Ser missense AGGF1 1 81964 1.22005E-5 40982 0 NA
5-76335402-G-A p.Cys243Tyr missense AGGF1 1 82814 1.20753E-5 41407 0 7.97505E-6
5-76335403-T-G p.Cys243Trp missense AGGF1 1 82856 1.20691E-5 41428 0 8.72128E-6
5-76335405-A-G p.Asp244Gly missense AGGF1 1 82894 1.20636E-5 41447 0 NA
5-76335408-T-G p.Val245Gly missense AGGF1 1 82948 1.20557E-5 41474 0 NA
5-76335419-C-T p.Arg249Cys missense AGGF1 1 83046 1.20415E-5 41523 0 7.74567E-5
5-76335421-T-A p.Arg249Arg synonymous AGGF1 4 83078 4.81475E-5 41539 0 5.14686E-5
5-76335432-A-G p.His253Arg missense AGGF1 1 83116 1.20314E-5 41558 0 3.18512E-5
5-76335438-G-A p.Arg255Gln missense AGGF1 1 83118 1.20311E-5 41559 0 7.97016E-6
5-76335438-G-C p.Arg255Pro missense AGGF1 1 83118 1.20311E-5 41559 0 3.98508E-6
5-76335451-A-G p.Gln259Gln synonymous AGGF1 2 83132 2.40581E-5 41566 0 1.19547E-5
5-76335452-C-T p.Pro260Ser missense AGGF1 1 83128 1.20296E-5 41564 0 3.98514E-6
5-76335456-A-T p.Tyr261Phe missense AGGF1 1 83128 1.20296E-5 41564 0 8.41935E-6
5-76335465-C-G p.Ser264Cys missense AGGF1 1 83138 1.20282E-5 41569 0 3.98988E-6
5-76335476-CAAAGT-C p.Ser269fs frameshift AGGF1 2 83146 2.40541E-5 41573 0 1.67971E-5
5-76335487-T-A p.Asp271Glu missense AGGF1 2 83136 2.4057E-5 41568 0 8.39687E-6
5-76335499-GAAGAA-G p.Lys279fs frameshift AGGF1 1 83092 1.20349E-5 41546 0 2.0118E-5
5-76335503-A-C p.Lys277Gln missense AGGF1 1 83076 1.20372E-5 41538 0 NA
5-76335508-A-C p.Arg278Ser missense AGGF1 1 83068 1.20383E-5 41534 0 NA
5-76335512-G-T p.Asp280Tyr missense AGGF1 1 83068 1.20383E-5 41534 0 NA
5-76335518-G-T p.Asp282Tyr missense AGGF1 3 83062 3.61176E-5 41531 0 8.43213E-6
5-76335522-C-T p.Ser283Phe missense AGGF1 4 83040 4.81696E-5 41520 0 4.01316E-6
5-76335545-G-GA c.870+1_870+2insA splice_donor AGGF1 2 82926 2.41179E-5 41463 1 NA
5-76335548-A-G c.870+4A>G splice_region AGGF1 1 82884 1.20651E-5 41442 0 NA
5-76335552-C-A c.870+8C>A splice_region AGGF1 1 82822 1.20741E-5 41411 0 NA
5-76342165-T-TC c.871-7_871-6insC splice_region AGGF1 10 79916 1.25131E-4 39958 0 8.87841E-5
5-76342169-C-T c.871-3C>T splice_region AGGF1 1 80354 1.24449E-5 40177 0 6.05E-5
5-76342179-A-G p.Asn293Ser missense AGGF1 2 81082 2.46664E-5 40541 0 5.03778E-5
5-76342180-C-T p.Asn293Asn synonymous AGGF1 1 81132 1.23256E-5 40566 0 1.61014E-5
5-76342200-T-A p.Phe300Tyr missense AGGF1 1 81974 1.2199E-5 40987 0 NA
5-76342207-TGAAC-T p.Glu303fs frameshift AGGF1 1 82262 1.21563E-5 41131 0 NA
5-76342211-C-CTT p.His304fs frameshift AGGF1 1 82376 1.21395E-5 41188 0 NA
5-76342213-T-C p.His304His synonymous AGGF1 2 82444 2.42589E-5 41222 0 8.36764E-6
5-76342231-A-G p.Glu310Glu synonymous AGGF1 1 82892 1.20639E-5 41446 0 1.59185E-4
5-76342238-T-G p.Phe313Val missense AGGF1 1 82964 1.20534E-5 41482 0 3.98578E-6
5-76342240-C-T p.Phe313Phe synonymous AGGF1 28 83000 3.37349E-4 41500 1 4.49558E-4
5-76342251-A-G p.Lys317Arg missense AGGF1 2 83122 2.4061E-5 41561 0 NA
5-76342264-A-G p.Lys321Lys synonymous AGGF1 1 83180 1.20221E-5 41590 0 2.78558E-5
5-76342266-TA-CT p.Ile322Thr missense AGGF1 1 83186 1.20213E-5 41593 0 NA
5-76342266-T-C p.Ile322Thr missense AGGF1 1 83186 1.20213E-5 41593 0 NA
5-76342267-A-T p.Ile322Ile synonymous AGGF1 1 83188 1.2021E-5 41594 0 NA
5-76342275-A-G p.His325Arg missense AGGF1 1 83218 1.20166E-5 41609 0 1.57326E-4
5-76342284-A-G p.Asn328Ser missense AGGF1 2 83216 2.40338E-5 41608 0 3.18471E-5
5-76342286-A-G p.Ser329Gly missense AGGF1 1 83220 1.20163E-5 41610 0 3.9781E-6
5-76342288-T-TC p.Lys332fs frameshift AGGF1 1 83210 1.20178E-5 41605 0 NA
5-76342289-C-T p.Pro330Ser missense AGGF1 1 83222 1.20161E-5 41611 0 7.95621E-6
5-76342293-C-T p.Pro331Leu missense AGGF1 1 83226 1.20155E-5 41613 0 3.97791E-6
5-76342301-A-T p.Thr334Ser missense AGGF1 1 83230 1.20149E-5 41615 0 3.18471E-5
5-76342314-G-C p.Ser338Thr missense AGGF1 1 83240 1.20135E-5 41620 0 NA
5-76342325-A-G p.Ile342Val missense AGGF1 16 83240 1.92215E-4 41620 0 3.18329E-4
5-76342329-A-C p.Glu343Ala missense AGGF1 1 83242 1.20132E-5 41621 0 3.97874E-6
5-76342334-C-T p.Pro345Ser missense AGGF1 2 83228 2.40304E-5 41614 0 1.65134E-5
5-76342341-A-G p.His347Arg missense AGGF1 1 83232 1.20146E-5 41616 0 3.1839E-5
5-76342347-A-T p.Asn349Ile missense AGGF1 1 83220 1.20163E-5 41610 0 3.97972E-6
5-76342349-A-T p.Ile350Phe missense AGGF1 12 83224 1.44189E-4 41612 0 3.50207E-4
5-76342349-A-G p.Ile350Val missense AGGF1 2 83224 2.40315E-5 41612 0 3.97988E-6
5-76342367-T-C p.Phe356Leu missense AGGF1 2 83228 2.40304E-5 41614 0 8.25532E-6
5-76342386-T-G p.Met362Arg missense AGGF1 2 83204 2.40373E-5 41602 0 NA
5-76342395-A-G p.Asp365Gly missense AGGF1 1 83200 1.20192E-5 41600 0 3.98191E-6
5-76342396-T-C p.Asp365Asp synonymous AGGF1 2 83198 2.4039E-5 41599 0 7.96331E-6
5-76342413-G-A p.Gly371Asp missense AGGF1 1 83216 1.20169E-5 41608 0 8.24974E-6
5-76342423-A-G p.Thr374Thr synonymous AGGF1 1 83214 1.20172E-5 41607 0 7.96457E-6
5-76342446-A-G p.Tyr382Cys missense AGGF1 18 83198 2.16351E-4 41599 0 0.00100705
5-76342447-T-C p.Tyr382Tyr synonymous AGGF1 324 83184 0.00389498 41592 2 0.00608203
5-76342450-C-T p.Asp383Asp synonymous AGGF1 30 83196 3.60594E-4 41598 0 0.00100705
5-76342463-A-G p.Ser388Gly missense AGGF1 1 83158 1.20253E-5 41579 0 NA
5-76342467-A-G p.Glu389Gly missense AGGF1 1 83162 1.20247E-5 41581 0 NA
5-76342471-C-T p.Gly390Gly synonymous AGGF1 2 83144 2.40547E-5 41572 0 3.98035E-6
5-76342473-A-C p.Asn391Thr missense AGGF1 1 83134 1.20288E-5 41567 0 8.25641E-6
5-76342479-C-T p.Thr393Ile missense AGGF1 2 83106 2.40657E-5 41553 0 2.7866E-5
5-76342489-T-C p.Asp396Asp synonymous AGGF1 13 83066 1.56502E-4 41533 0 3.82044E-4
5-76342510-A-G c.1201+8A>G splice_region AGGF1 1 82812 1.20755E-5 41406 0 NA
5-76343986-A-G p.Asp401Gly missense+splice_region AGGF1 1 82832 1.20726E-5 41416 0 8.24144E-6
5-76343995-A-G p.Lys404Arg missense AGGF1 1 82972 1.20523E-5 41486 0 NA
5-76343999-T-C p.Ile405Ile synonymous AGGF1 19769 82340 0.24009 41170 2345 0.24231
5-76344006-C-T p.Pro408Ser missense AGGF1 1 83044 1.20418E-5 41522 0 3.97716E-6
5-76344008-A-G p.Pro408Pro synonymous AGGF1 4 83042 4.81684E-5 41521 0 9.55779E-5
5-76344050-A-G p.Ile422Met missense AGGF1 1 83152 1.20262E-5 41576 0 NA
5-76344053-A-C p.Gly423Gly synonymous AGGF1 1 83140 1.20279E-5 41570 0 3.9775E-6
5-76344056-A-G p.Ser424Ser synonymous AGGF1 1 83126 1.20299E-5 41563 0 5.04032E-4
5-76344059-C-G p.Leu425Leu synonymous AGGF1 9 83124 1.08272E-4 41562 0 0.00125
5-76344064-T-C p.Ile427Thr missense AGGF1 1 83092 1.20349E-5 41546 0 NA
5-76344080-C-A p.Asn432Lys missense AGGF1 1 83008 1.2047E-5 41504 0 NA
5-76344098-G-A c.1313+1G>A splice_donor AGGF1 1 82826 1.20735E-5 41413 0 NA
5-76344099-T-G c.1313+2T>G splice_donor AGGF1 1 82820 1.20744E-5 41410 0 NA
5-76344787-G-A p.Arg447Gln missense AGGF1 1 82738 1.20863E-5 41369 0 8.25696E-6
5-76344797-A-T p.Glu450Asp missense AGGF1 1 82768 1.2082E-5 41384 0 3.9801E-6
5-76344807-A-G p.Ser454Gly missense AGGF1 1 82732 1.20872E-5 41366 0 8.26132E-6
5-76344808-G-A p.Ser454Asn missense AGGF1 2 82716 2.41791E-5 41358 0 NA
5-76348526-C-A c.1366-5C>A splice_region AGGF1 1 82592 1.21077E-5 41296 0 NA
5-76348526-C-CT c.1366-5_1366-4insT splice_region AGGF1 1 82592 1.21077E-5 41296 0 3.18532E-5
5-76348554-C-G p.Asp463Glu missense AGGF1 2 82906 2.41237E-5 41453 0 2.49145E-5
5-76348564-C-A p.Gln467Lys missense AGGF1 2 82950 2.41109E-5 41475 0 1.6547E-5
5-76348565-A-G p.Gln467Arg missense AGGF1 2 82976 2.41034E-5 41488 0 3.1841E-5
5-76348575-C-T p.Val470Val synonymous AGGF1 3 83000 3.61446E-5 41500 0 1.65273E-5
5-76348586-A-T p.Gln474Leu missense AGGF1 1 83020 1.20453E-5 41510 0 NA
5-76348618-A-C p.Lys485Gln missense AGGF1 1 82914 1.20607E-5 41457 0 NA
5-76348626-T-C p.Ile487Ile synonymous AGGF1 1 82858 1.20688E-5 41429 0 NA
5-76348627-C-T p.Leu488Phe missense AGGF1 1 82852 1.20697E-5 41426 0 6.37024E-5
5-76348632-G-GCC c.1467_1467+1insCC splice_donor AGGF1 4 82802 4.8308E-5 41401 2 NA
5-76349781-C-CGAA c.1468-9_1468-8insGAA splice_region AGGF1 13 83174 1.56299E-4 41587 0 1.99127E-5
5-76349791-C-T p.Pro490Leu missense+splice_region AGGF1 2 83278 2.40159E-5 41639 0 8.23778E-6
5-76349792-G-A p.Pro490Pro splice_region+synonymous AGGF1 10 83298 1.20051E-4 41649 0 5.76616E-5
5-76349813-C-T p.Tyr497Tyr synonymous AGGF1 2 83300 2.40096E-5 41650 0 6.37024E-5
5-76349814-G-A p.Val498Ile missense AGGF1 20 83304 2.40085E-4 41652 0 0.00100705
5-76349841-A-T p.Ile507Phe missense AGGF1 1 83358 1.19964E-5 41679 0 5.03525E-4
5-76349847-G-A p.Glu509Lys missense AGGF1 5 83366 5.99765E-5 41683 2 NA
5-76349851-CTGTCTTATCCTTTCACATTCA-C p.Val511_His517del conservative_inframe_deletion AGGF1 1 83370 1.19947E-5 41685 0 NA
5-76349867-C-T p.His515His synonymous AGGF1 3 83372 3.59833E-5 41686 0 NA
5-76349872-A-G p.His517Arg missense AGGF1 1 83372 1.19944E-5 41686 0 3.97652E-6
5-76349888-C-T p.Thr522Thr synonymous AGGF1 3 83374 3.59824E-5 41687 0 3.29473E-5
5-76349894-T-C p.Asp524Asp synonymous AGGF1 2 83370 2.39894E-5 41685 0 NA
5-76349898-T-G p.Cys526Gly missense AGGF1 1 83378 1.19936E-5 41689 0 3.29462E-5
5-76349900-T-C p.Cys526Cys synonymous AGGF1 1837 83354 0.0220385 41677 40 0.045625
5-76349943-G-A p.Asp541Asn missense AGGF1 3 83318 3.60066E-5 41659 0 5.76606E-5
5-76349951-T-C p.Ser543Ser synonymous AGGF1 51 83298 6.1226E-4 41649 0 7.96128E-4
5-76351344-C-T p.Pro547Ser missense AGGF1 2 80872 2.47304E-5 40436 0 4.00301E-6
5-76351357-A-G p.Lys551Arg missense AGGF1 11 81212 1.35448E-4 40606 0 0.0015121
5-76351362-G-A p.Glu553Lys missense AGGF1 3 81236 3.69294E-5 40618 0 9.60615E-5
5-76351370-G-A p.Glu555Glu synonymous AGGF1 1 81198 1.23156E-5 40599 0 0.00100806
5-76351379-A-T p.Arg558Ser missense AGGF1 1 81156 1.23219E-5 40578 0 NA
5-76351399-T-C p.Ile565Thr missense AGGF1 9 81114 1.10955E-4 40557 0 7.499E-5
5-76351401-C-T p.Arg566* stop_gained AGGF1 1 80982 1.23484E-5 40491 0 3.18857E-5
5-76351411-A-G p.Tyr569Cys missense AGGF1 1 80938 1.23551E-5 40469 0 NA
5-76351412-T-C p.Tyr569Tyr synonymous AGGF1 2 80914 2.47176E-5 40457 0 2.5084E-5
5-76351426-G-A c.1716+5G>A splice_region AGGF1 2 80396 2.48769E-5 40198 0 2.01681E-5
5-76355438-A-T c.1717-3A>T splice_region AGGF1 11 81476 1.35009E-4 40738 0 6.42674E-4
5-76355452-C-T p.Tyr576Tyr synonymous AGGF1 2 81860 2.4432E-5 40930 0 2.48164E-5
5-76355452-C-G p.Tyr576* stop_gained AGGF1 1 81860 1.2216E-5 40930 0 NA
5-76355457-A-T p.Asp578Val missense AGGF1 1 82072 1.21844E-5 41036 0 NA
5-76355468-T-G p.Leu582Val missense AGGF1 62 82426 7.5219E-4 41213 0 0.00167445
5-76355482-A-G p.Lys586Lys synonymous AGGF1 1 82650 1.20992E-5 41325 0 NA
5-76355483-T-C p.Tyr587His missense AGGF1 1 82662 1.20975E-5 41331 0 NA
5-76355485-T-C p.Tyr587Tyr synonymous AGGF1 1 82698 1.20922E-5 41349 0 3.98391E-6
5-76355489-G-C p.Asp589His missense AGGF1 1 82760 1.20831E-5 41380 0 NA
5-76355504-C-T p.Arg594Cys missense AGGF1 1 82964 1.20534E-5 41482 0 8.239E-6
5-76355505-G-A p.Arg594His missense AGGF1 3 82988 3.61498E-5 41494 0 1.19494E-5
5-76355506-T-C p.Arg594Arg synonymous AGGF1 1 82998 1.20485E-5 41499 0 3.18451E-5
5-76355524-T-A p.Ser600Arg missense AGGF1 30 83110 3.60967E-4 41555 0 2.86624E-4
5-76355530-A-G p.Gly602Gly synonymous AGGF1 1 83164 1.20244E-5 41582 0 1.19461E-5
5-76355549-G-T p.Ala609Ser missense AGGF1 2 83206 2.40367E-5 41603 0 3.98216E-6
5-76355552-C-G p.Pro610Ala missense AGGF1 1 83206 1.20184E-5 41603 0 NA
5-76355553-C-T p.Pro610Leu missense AGGF1 2 83204 2.40373E-5 41602 0 8.23818E-6
5-76355556-C-T p.Ala611Val missense AGGF1 3 83212 3.60525E-5 41606 0 8.23818E-6
5-76355564-C-G p.His614Asp missense AGGF1 3 83228 3.60456E-5 41614 0 1.19459E-5
5-76355568-C-T p.Ser615Phe missense+splice_region AGGF1 10 83218 1.20166E-4 41609 0 1.2738E-4
5-76355568-C-CTGAAATTACTGATAGCAACAAAG c.1844_1844+1insTGAAATTACTGATAGCAACAAAG splice_donor AGGF1 1 83218 1.20166E-5 41609 0 NA
5-76357524-A-G c.1845-4A>G splice_region AGGF1 642 82812 0.0077525 41406 13 0.0161403
5-76357553-C-T p.Arg624Trp missense AGGF1 2 82994 2.40981E-5 41497 0 1.9891E-5
5-76357554-G-A p.Arg624Gln missense AGGF1 2 83048 2.40825E-5 41524 0 8.24715E-6
5-76357559-A-G p.Met626Val missense AGGF1 1 83042 1.20421E-5 41521 0 NA
5-76357569-A-G p.Lys629Arg missense AGGF1 1 83086 1.20357E-5 41543 0 3.1835E-5
5-76357573-G-A p.Met630Ile missense AGGF1 4 83122 4.8122E-5 41561 0 6.76186E-5
5-76357575-G-A p.Gly631Asp missense AGGF1 1 83044 1.20418E-5 41522 0 NA
5-76357582-G-A p.Lys633Lys synonymous AGGF1 1 83090 1.20351E-5 41545 0 NA
5-76357590-A-G p.Glu636Gly missense AGGF1 1 82974 1.2052E-5 41487 0 NA
5-76357616-A-G p.Met645Val missense AGGF1 3 82852 3.62091E-5 41426 0 NA
5-76357617-T-TATTAAAATGATA p.Met645delinsIleLeuLysTerTer stop_gained AGGF1 1 82922 1.20595E-5 41461 0 NA
5-76357623-C-T p.Thr647Met missense AGGF1 3 82964 3.61603E-5 41482 0 6.25E-4
5-76357624-G-T p.Thr647Thr synonymous AGGF1 3 82924 3.61777E-5 41462 0 3.18674E-5
5-76357627-G-GATCCAGCTTCAGCTTCGGCGAACACATGCAGGCTTGGGGACA c.1944_1944+1insATCCAGCTTCAGCTTCGGCGAACACATGCAGGCTTGGGGACA splice_donor AGGF1 1 82908 1.20616E-5 41454 0 NA
5-76357627-G-A p.Pro648Pro splice_region+synonymous AGGF1 1 82908 1.20616E-5 41454 0 3.18573E-5
5-76357635-T-C c.1944+8T>C splice_region AGGF1 2 82790 2.41575E-5 41395 0 3.98575E-6
5-76358870-G-A c.1945-7G>A splice_region AGGF1 1 81856 1.22166E-5 40928 0 NA
5-76358872-A-G c.1945-5A>G splice_region AGGF1 2 81902 2.44194E-5 40951 0 NA
5-76358874-C-T c.1945-3C>T splice_region AGGF1 2 81964 2.4401E-5 40982 0 4.16091E-5
5-76358890-T-G p.Leu653Arg missense AGGF1 3 82430 3.63945E-5 41215 0 1.19587E-5
5-76358892-C-T p.Arg654Trp missense AGGF1 106 82470 0.00128532 41235 0 0.00159484
5-76358895-C-T p.Arg655* stop_gained AGGF1 1 82618 1.21039E-5 41309 0 4.15207E-5
5-76358898-A-G p.Thr656Ala missense AGGF1 1 82740 1.20861E-5 41370 0 NA
5-76358902-A-G p.His657Arg missense AGGF1 2 82828 2.41464E-5 41414 0 3.984E-6
5-76358903-T-C p.His657His synonymous AGGF1 1 82830 1.20729E-5 41415 0 NA
5-76358916-A-T p.Thr662Ser missense AGGF1 2 82930 2.41167E-5 41465 0 NA
5-76358916-A-G p.Thr662Ala missense AGGF1 1 82930 1.20584E-5 41465 0 8.2982E-6
5-76358918-A-G p.Thr662Thr synonymous AGGF1 1 82966 1.20531E-5 41483 0 NA
5-76358943-G-A p.Val671Ile missense AGGF1 1 83118 1.20311E-5 41559 0 1.4096E-4
5-76358951-T-A p.Leu673Leu synonymous AGGF1 19 83134 2.28547E-4 41567 0 0.005
5-76358956-A-C p.Gln675Pro missense AGGF1 12 83154 1.44311E-4 41577 0 9.40097E-4
5-76358961-A-C p.Lys677Gln missense AGGF1 1 83180 1.20221E-5 41590 0 NA
5-76358966-C-CA p.Asn681fs frameshift AGGF1 2 83182 2.40437E-5 41591 0 3.58749E-5
5-76358973-A-T p.Asn681Tyr missense AGGF1 1 83204 1.20187E-5 41602 0 NA
5-76358973-A-C p.Asn681His missense AGGF1 1 83204 1.20187E-5 41602 0 3.18573E-4
5-76358975-C-T p.Asn681Asn synonymous AGGF1 1 83192 1.20204E-5 41596 0 NA
5-76358985-G-A p.Ala685Thr missense AGGF1 1 83210 1.20178E-5 41605 0 8.28597E-6
5-76358988-C-T p.Arg686* stop_gained AGGF1 3 83218 3.60499E-5 41609 0 3.18776E-5
5-76358989-G-A p.Arg686Gln missense AGGF1 1 83210 1.20178E-5 41605 0 3.98159E-6
5-76358992-A-G p.Glu687Gly missense AGGF1 1 83232 1.20146E-5 41616 0 NA
5-76358994-C-T p.Arg688Trp missense AGGF1 1 83244 1.20129E-5 41622 0 5.03525E-4
5-76359016-A-T p.Glu695Val missense AGGF1 3 83294 3.6017E-5 41647 0 5.03525E-4
5-76359018-A-G p.Thr696Ala missense AGGF1 10 83292 1.2006E-4 41646 0 9.55718E-5
5-76359024-C-A p.Pro698Thr missense AGGF1 21493 82868 0.259364 41434 2933 0.289527
5-76359034-A-G p.Asp701Gly missense AGGF1 1 83274 1.20085E-5 41637 0 NA
5-76359042-G-A p.Gly704Arg missense AGGF1 13 83254 1.56149E-4 41627 0 3.50452E-4
5-76359048-A-T p.Met706Leu missense AGGF1 204 83242 0.00245069 41621 1 0.00401402
5-76359048-A-G p.Met706Val missense AGGF1 1 83250 1.2012E-5 41625 0 NA
5-76359063-G-C p.Gly711Arg missense AGGF1 1 83206 1.20184E-5 41603 0 1.66096E-5