Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
6-88384787-ATCAT-A c.*524_*527delATGA splice_region AKIRIN2 7 29736 2.35405E-4 14868 0 NA
6-88384791-T-C c.*524A>G splice_region AKIRIN2 1 29746 3.3618E-5 14873 0 NA
6-88384791-T-A c.*524A>T splice_region AKIRIN2 1 29740 3.36247E-5 14870 0 NA
6-88385318-T-C p.Ser203Ser synonymous AKIRIN2 1 82684 1.20942E-5 41342 0 6.36862E-5
6-88385571-T-C c.601+7A>G splice_region AKIRIN2 1 83022 1.2045E-5 41511 0 4.00737E-6
6-88385579-G-A p.Ser200Ser splice_region+synonymous AKIRIN2 1203 83070 0.0144818 41535 48 0.0307962
6-88385588-C-T p.Gln197Gln synonymous AKIRIN2 1 83128 1.20296E-5 41564 0 NA
6-88385604-C-T p.Arg192Gln missense AKIRIN2 2 83134 2.40575E-5 41567 0 0.00100705
6-88385612-T-C p.Gln189Gln synonymous AKIRIN2 1 83156 1.20256E-5 41578 0 5.97595E-5
6-88385618-A-G p.His187His synonymous AKIRIN2 1 83124 1.20302E-5 41562 0 8.25001E-6
6-88385621-C-A p.Thr186Thr synonymous AKIRIN2 1 83108 1.20325E-5 41554 0 NA
6-88385621-C-T p.Thr186Thr synonymous AKIRIN2 7 83108 8.42278E-5 41554 0 2.86734E-4
6-88385633-A-G p.Phe182Phe synonymous AKIRIN2 59 83078 7.10176E-4 41539 0 6.85203E-4
6-88385636-C-T p.Ala181Ala synonymous AKIRIN2 2 83080 2.40732E-5 41540 0 3.9924E-6
6-88385641-CAT-C p.Tyr179fs frameshift AKIRIN2 1 83070 1.2038E-5 41535 0 NA
6-88385645-T-C p.Gln178Gln synonymous AKIRIN2 9 83030 1.08395E-4 41515 0 2.81373E-4
6-88385652-A-G c.530-3T>C splice_region AKIRIN2 2 82954 2.41097E-5 41477 0 4.04986E-6
6-88387532-A-C c.529+4T>G splice_region AKIRIN2 1 82608 1.21054E-5 41304 0 3.98603E-6
6-88387557-T-G p.Ile170Leu missense AKIRIN2 1 82810 1.20758E-5 41405 0 3.18492E-5
6-88387575-G-A p.Arg164* stop_gained AKIRIN2 1 82964 1.20534E-5 41482 0 NA
6-88387589-C-T p.Arg159His missense AKIRIN2 1 83004 1.20476E-5 41502 0 NA
6-88387595-T-C p.Lys157Arg missense AKIRIN2 1 83072 1.20378E-5 41536 0 3.97864E-6
6-88387596-T-C p.Lys157Glu missense AKIRIN2 1 83070 1.2038E-5 41535 0 NA
6-88387612-G-T p.Ile151Ile synonymous AKIRIN2 1 83130 1.20294E-5 41565 0 NA
6-88387621-A-G p.Val148Val synonymous AKIRIN2 1 83130 1.20294E-5 41565 0 8.23723E-6
6-88387629-G-A p.Arg146Trp missense AKIRIN2 4 83130 4.81174E-5 41565 0 4.94218E-5
6-88387662-G-A p.Pro135Ser missense AKIRIN2 8 83010 9.63739E-5 41505 0 2.23814E-4
6-88387662-G-C p.Pro135Ala missense AKIRIN2 1 83010 1.20467E-5 41505 0 1.59198E-5
6-88387666-G-A p.Ser133Ser synonymous AKIRIN2 4 82990 4.81986E-5 41495 0 8.23981E-6
6-88387687-T-TGGTG c.380-3_380-2insCACC splice_region AKIRIN2 4 82722 4.83547E-5 41361 1 NA
6-88387688-A-AAGC c.380-4_380-3insGCT splice_region AKIRIN2 1 82698 1.20922E-5 41349 0 NA
6-88387689-T-C c.380-4A>G splice_region AKIRIN2 2 82684 2.41885E-5 41342 0 1.20552E-5
6-88387692-A-G c.380-7T>C splice_region AKIRIN2 1 82590 1.2108E-5 41295 0 4.04142E-6
6-88387693-C-G c.380-8G>C splice_region AKIRIN2 221 82562 0.00267678 41281 0 0.0052346
6-88391334-T-C c.379+4A>G splice_region AKIRIN2 450 83046 0.00541868 41523 1 0.00667827
6-88391356-T-G p.Ser121Arg missense AKIRIN2 5 83200 6.00962E-5 41600 0 2.48205E-5
6-88391367-G-C p.Ala117Gly missense AKIRIN2 1 83216 1.20169E-5 41608 0 3.18492E-5
6-88391367-G-A p.Ala117Val missense AKIRIN2 1 83216 1.20169E-5 41608 0 NA
6-88391370-T-C p.His116Arg missense AKIRIN2 2 83224 2.40315E-5 41612 0 8.01867E-6
6-88391375-C-T p.Gln114Gln synonymous AKIRIN2 1 83238 1.20137E-5 41619 0 NA
6-88391381-A-G p.Asp112Asp synonymous AKIRIN2 8 83242 9.61053E-5 41621 0 9.9231E-5
6-88391382-T-A p.Asp112Val missense AKIRIN2 1 83240 1.20135E-5 41620 0 NA
6-88391385-G-A p.Ser111Phe missense AKIRIN2 1 83238 1.20137E-5 41619 0 1.59681E-5
6-88391388-G-T p.Thr110Asn missense AKIRIN2 1 83244 1.20129E-5 41622 0 NA
6-88391392-A-G p.Cys109Arg missense AKIRIN2 16 83236 1.92225E-4 41618 1 8.59654E-4
6-88391405-C-T p.Gln104Gln synonymous AKIRIN2 444 83198 0.00533667 41599 2 0.00665605
6-88391409-T-C p.Gln103Arg missense AKIRIN2 1 83198 1.20195E-5 41599 0 8.36568E-6
6-88391446-G-A p.Arg91* stop_gained AKIRIN2 1 82960 1.2054E-5 41480 0 NA
6-88391471-C-T p.Leu82Leu synonymous AKIRIN2 5 82586 6.05429E-5 41293 0 4.08023E-5
6-88391471-C-A p.Leu82Leu synonymous AKIRIN2 1 82588 1.21083E-5 41294 0 NA
6-88391483-T-TGTGGTGAGGCGGGAGGAGACGTCGCCGAAGGGGGATGGCTCCATTCGG c.236-3_236-2insCCGAATGGAGCCATCCCCCTTCGGCGACGTCTCCTCCCGCCTCACCAC splice_region AKIRIN2 2 82070 2.43694E-5 41035 1 NA
6-88391488-TAAA-T c.236-10_236-8delTTT splice_region AKIRIN2 4 81810 4.88938E-5 40905 0 5.18861E-5
6-88391489-A-T c.236-8T>A splice_region AKIRIN2 1 81752 1.22321E-5 40876 0 3.04587E-5
6-88410563-T-A n.78A>T splice_region AKIRIN2 1 47240 2.11685E-5 23620 0 NA
6-88410570-G-GA n.77-7_77-6insT splice_region AKIRIN2 1 47240 2.11685E-5 23620 0 NA
6-88411161-G-A c.235+7C>T splice_region AKIRIN2 1 66578 1.502E-5 33289 0 NA
6-88411165-C-A c.235+3G>T splice_region AKIRIN2 1 66726 1.49867E-5 33363 0 NA
6-88411184-G-A p.Ser73Ser synonymous AKIRIN2 1 65106 1.53596E-5 32553 0 8.7892E-6
6-88411187-G-A p.Val72Val synonymous AKIRIN2 8 64806 1.23445E-4 32403 0 0.00380228
6-88411189-C-T p.Val72Ile missense AKIRIN2 5 64298 7.77629E-5 32149 0 3.96511E-4
6-88411199-G-A p.Pro68Pro synonymous AKIRIN2 33 64776 5.09448E-4 32388 0 8.65614E-4
6-88411199-G-C p.Pro68Pro synonymous AKIRIN2 6 64778 9.2624E-5 32389 0 6.38203E-5
6-88411201-G-A p.Pro68Ser missense AKIRIN2 1 64816 1.54283E-5 32408 0 1.006E-5
6-88411215-C-A p.Arg63Leu missense AKIRIN2 1 64772 1.54388E-5 32386 0 NA
6-88411223-C-T p.Lys60Lys synonymous AKIRIN2 1 65546 1.52565E-5 32773 0 4.66432E-5
6-88411235-G-C p.Ala56Ala synonymous AKIRIN2 1 65926 1.51685E-5 32963 0 3.19468E-5
6-88411244-A-T p.Ala53Ala synonymous AKIRIN2 188 66738 0.00281699 33369 2 0.00924745
6-88411248-GAGA-G p.Phe51del disruptive_inframe_deletion AKIRIN2 29 67662 4.28601E-4 33831 0 0.00229095
6-88411258-C-T p.Ala49Thr missense AKIRIN2 1 68244 1.46533E-5 34122 0 NA
6-88411258-C-CGGCGGTGGCCGCGGCCGCCGACAACGGGGA p.Ala48_Ala49insSerProLeuSerAlaAlaAlaAlaThrAla conservative_inframe_insertion AKIRIN2 1 68244 1.46533E-5 34122 0 NA
6-88411259-G-C p.Ala48Ala synonymous AKIRIN2 4 68886 5.8067E-5 34443 0 5.58036E-4
6-88411264-T-C p.Thr47Ala missense AKIRIN2 1 69108 1.44701E-5 34554 0 NA
6-88411285-G-C p.Pro40Ala missense AKIRIN2 1 73268 1.36485E-5 36634 0 3.19407E-5
6-88411289-G-A p.Ala38Ala synonymous AKIRIN2 1 73560 1.35943E-5 36780 0 0.0016269
6-88411298-C-T p.Ser35Ser synonymous AKIRIN2 1 74184 1.348E-5 37092 0 NA
6-88411301-G-A p.Thr34Thr synonymous AKIRIN2 1 74530 1.34174E-5 37265 0 5.2356E-4
6-88411303-T-C p.Thr34Ala missense AKIRIN2 1 74254 1.34673E-5 37127 0 NA
6-88411306-G-C p.Pro33Ala missense AKIRIN2 1 74686 1.33894E-5 37343 0 NA
6-88411306-G-A p.Pro33Ser missense AKIRIN2 1 74686 1.33894E-5 37343 0 0.00376412
6-88411307-C-T p.Ala32Ala synonymous AKIRIN2 2 74660 2.67881E-5 37330 0 NA
6-88411311-G-A p.Ser31Leu missense AKIRIN2 1 75118 1.33124E-5 37559 0 NA
6-88411315-A-G p.Leu30Leu synonymous AKIRIN2 2 75470 2.65006E-5 37735 0 NA
6-88411316-T-A p.Pro29Pro synonymous AKIRIN2 2 75494 2.64922E-5 37747 0 NA
6-88411316-T-C p.Pro29Pro synonymous AKIRIN2 2 75494 2.64922E-5 37747 0 NA
6-88411320-G-C p.Ala28Gly missense AKIRIN2 13 75512 1.72158E-4 37756 0 5.31915E-4
6-88411321-C-A p.Ala28Ser missense AKIRIN2 1 75582 1.32307E-5 37791 0 NA
6-88411340-G-A p.Ser21Ser synonymous AKIRIN2 3 76196 3.93721E-5 38098 0 NA
6-88411341-G-A p.Ser21Phe missense AKIRIN2 10 76228 1.31185E-4 38114 0 1.18864E-4
6-88411343-C-G p.Ala20Ala synonymous AKIRIN2 1 76214 1.31209E-5 38107 0 NA
6-88411346-C-T p.Pro19Pro synonymous AKIRIN2 1 76254 1.31141E-5 38127 0 3.19224E-5
6-88411352-C-T p.Leu17Leu synonymous AKIRIN2 2 76406 2.6176E-5 38203 0 9.999E-6
6-88411373-A-G p.Thr10Thr synonymous AKIRIN2 1 76360 1.30959E-5 38180 0 NA
6-88411374-G-A p.Thr10Ile missense AKIRIN2 1 76362 1.30955E-5 38181 0 NA
6-88411384-G-A p.Leu7Leu synonymous AKIRIN2 1 76014 1.31555E-5 38007 0 6.26566E-4
6-88411414-G-A c.-12C>T 5_prime_UTR_premature_start_codon_gain AKIRIN2 1 73820 1.35465E-5 36910 0 NA
6-88411431-G-A c.-29C>T 5_prime_UTR_premature_start_codon_gain AKIRIN2 1 71508 1.39844E-5 35754 0 NA
6-88411454-G-C c.-52C>G 5_prime_UTR_premature_start_codon_gain AKIRIN2 1 64468 1.55116E-5 32234 0 NA
6-88411614-G-C c.-212C>G 5_prime_UTR_premature_start_codon_gain AKIRIN2 2 9436 2.11954E-4 4718 0 NA
6-88411635-G-A c.-233C>T 5_prime_UTR_premature_start_codon_gain AKIRIN2 14 6768 0.00206856 3384 0 0.002844
6-88411798-C-T c.-396G>A 5_prime_UTR_premature_start_codon_gain AKIRIN2 1 2678 3.73413E-4 1339 0 NA