Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
3-50264370-C-T c.-186C>T 5_prime_UTR_premature_start_codon_gain GNAI2 1 32964 3.03361E-5 16482 0 NA
3-50264413-C-T c.-143C>T 5_prime_UTR_premature_start_codon_gain GNAI2 1 54754 1.82635E-5 27377 0 NA
3-50264443-A-T c.-113A>T 5_prime_UTR_premature_start_codon_gain GNAI2 2 62046 3.22341E-5 31023 0 NA
3-50264573-G-A p.Lys6Lys synonymous GNAI2 1 74990 1.33351E-5 37495 0 2.6547E-5
3-50264587-C-A p.Thr11Lys missense GNAI2 5 74816 6.68306E-5 37408 1 6.25E-4
3-50264588-G-T p.Thr11Thr synonymous GNAI2 2 74882 2.67087E-5 37441 0 NA
3-50264593-AG-A p.Gly15fs frameshift GNAI2 2 75048 2.66496E-5 37524 0 NA
3-50264598-G-A p.Gly15Ser missense GNAI2 4 75182 5.32042E-5 37591 0 NA
3-50264608-A-C p.His18Pro missense GNAI2 10 74960 1.33404E-4 37480 0 2.53743E-4
3-50264611-G-A p.Trp19* stop_gained GNAI2 1 74982 1.33365E-5 37491 0 NA
3-50264615-A-T p.Gly20Gly synonymous GNAI2 2 74932 2.66909E-5 37466 0 NA
3-50264617-G-A p.Arg21His missense GNAI2 2 74822 2.67301E-5 37411 0 3.91931E-5
3-50264620-C-T p.Ser22Phe missense GNAI2 3 74806 4.01037E-5 37403 0 3.18817E-5
3-50268429-G-C n.188G>C splice_region GNAI2 1 24280 4.11862E-5 12140 0 6.37146E-5
3-50268437-T-A n.189+7T>A splice_region GNAI2 1 24266 4.12099E-5 12133 0 NA
3-50273544-C-T c.-224C>T 5_prime_UTR_premature_start_codon_gain GNAI2 1 36748 2.72124E-5 18374 0 NA
3-50273549-C-T c.-219C>T 5_prime_UTR_premature_start_codon_gain GNAI2 2 38168 5.23999E-5 19084 0 NA
3-50273639-C-T c.-129C>T 5_prime_UTR_premature_start_codon_gain GNAI2 1 58400 1.71233E-5 29200 0 NA
3-50273643-C-T c.-125C>T 5_prime_UTR_premature_start_codon_gain GNAI2 2 59234 3.37644E-5 29617 0 NA
3-50273644-G-T c.-124G>T 5_prime_UTR_premature_start_codon_gain GNAI2 1 59254 1.68765E-5 29627 0 3.20616E-5
3-50273721-G-T c.-47G>T 5_prime_UTR_premature_start_codon_gain GNAI2 6 68380 8.7745E-5 34190 0 NA
3-50273746-G-T c.-22G>T 5_prime_UTR_premature_start_codon_gain GNAI2 1 72340 1.38236E-5 36170 0 3.22248E-5
3-50273754-C-T c.-14C>T 5_prime_UTR_premature_start_codon_gain GNAI2 1 73428 1.36188E-5 36714 0 NA
3-50273781-T-G p.Val5Gly missense GNAI2 1 77686 1.28723E-5 38843 0 6.55815E-6
3-50273800-G-C p.Ala11Ala synonymous GNAI2 2 78592 2.54479E-5 39296 0 NA
3-50273820-T-C p.Met18Thr missense GNAI2 1 79150 1.26342E-5 39575 0 1.91604E-5
3-50273827-C-T p.Asp20Asp synonymous GNAI2 1 79278 1.26138E-5 39639 0 NA
3-50273829-A-G p.Lys21Arg missense GNAI2 1 79330 1.26056E-5 39665 0 NA
3-50273856-C-T p.Ala30Val missense GNAI2 1 79394 1.25954E-5 39697 0 NA
3-50273857-G-A p.Ala30Ala synonymous GNAI2 1 79456 1.25856E-5 39728 0 NA
3-50284355-C-A c.-146C>A 5_prime_UTR_premature_start_codon_gain GNAI2 1 80658 1.2398E-5 40329 0 3.2173E-5
3-50284402-C-T c.-99C>T 5_prime_UTR_premature_start_codon_gain GNAI2 3 81364 3.68713E-5 40682 0 NA
3-50284422-C-T c.-79C>T 5_prime_UTR_premature_start_codon_gain GNAI2 1 81502 1.22696E-5 40751 0 NA
3-50284505-G-C p.Arg2Thr missense+splice_region GNAI2 1 79444 1.25875E-5 39722 0 NA
3-50284512-G-T c.7+5G>T splice_region GNAI2 1 78754 1.26978E-5 39377 0 NA
3-50289053-C-G p.Gly24Gly splice_region+synonymous GNAI2 1 77142 1.29631E-5 38571 0 6.54022E-5
3-50289060-T-C p.Leu27Leu synonymous GNAI2 1 77186 1.29557E-5 38593 0 4.86808E-5
3-50289080-GAGA-G p.Arg36del disruptive_inframe_deletion GNAI2 10 77304 1.29359E-4 38652 0 2.95814E-4
3-50289100-T-G p.Leu40Arg missense GNAI2 1 77376 1.29239E-5 38688 0 4.61314E-6
3-50289114-T-C p.Cys45Arg missense GNAI2 2 77378 2.58471E-5 38689 0 NA
3-50289117-A-G p.Arg46Gly missense GNAI2 1 77386 1.29222E-5 38693 0 NA
3-50289118-G-A p.Gly5Arg missense GNAI2 1 77386 1.29222E-5 38693 0 NA
3-50289127-C-G p.Pro8Ala missense GNAI2 2 77398 2.58405E-5 38699 0 NA
3-50289140-C-T p.Ala12Val missense GNAI2 1 77392 1.29212E-5 38696 0 3.18512E-5
3-50289149-C-T p.Thr15Ile missense GNAI2 1 77392 1.29212E-5 38696 0 1.17791E-5
3-50289151-A-G p.Ile16Val missense GNAI2 8 77394 1.03367E-4 38697 0 8.25297E-5
3-50289175-G-C p.Gly24Arg missense+splice_region GNAI2 1 77258 1.29436E-5 38629 0 5.64665E-6
3-50289181-C-T c.70+6C>T splice_region GNAI2 5 77160 6.48004E-5 38580 0 5.60255E-5
3-50289524-T-C c.71-8T>C splice_region GNAI2 2 82958 2.41086E-5 41479 0 NA
3-50289557-C-T p.His74Tyr missense GNAI2 3 83038 3.6128E-5 41519 0 6.25E-4
3-50289558-A-G p.Ile33Val missense GNAI2 1 83048 1.20412E-5 41524 0 3.18959E-5
3-50289835-C-T p.Ser42Phe missense GNAI2 2 83100 2.40674E-5 41550 0 3.18573E-5
3-50289838-C-T p.Arg83* stop_gained GNAI2 32 83100 3.85078E-4 41550 1 0.0020141
3-50289841-G-A p.Arg44Lys missense GNAI2 1 83116 1.20314E-5 41558 0 NA
3-50289853-C-T p.Arg88* stop_gained GNAI2 1916 83056 0.0230688 41528 33 0.0473313
3-50289854-G-A p.Glu47Lys missense GNAI2 2 83118 2.40622E-5 41559 0 3.98137E-6
3-50289866-C-T p.Arg51Trp missense GNAI2 2 83100 2.40674E-5 41550 0 3.18593E-5
3-50289867-G-A p.Arg51Gln missense GNAI2 7 83110 8.42257E-5 41555 0 6.37024E-5
3-50289876-G-A p.Arg54Gln missense GNAI2 3 83096 3.61028E-5 41548 0 2.78722E-5
3-50289880-G-A p.Arg57Gln missense GNAI2 1 83076 1.20372E-5 41538 0 1.99095E-5
3-50289918-T-C p.Ile68Thr missense GNAI2 1 83014 1.20462E-5 41507 0 3.18451E-5
3-50289933-G-A p.Gly73Asp missense GNAI2 2 82920 2.41196E-5 41460 0 1.67968E-5
3-50289947-G-A p.Asp78Asn missense GNAI2 25 82780 3.02005E-4 41390 0 5.03525E-4
3-50289955-C-T p.Arg122* stop_gained GNAI2 1 82636 1.21013E-5 41318 0 1.73968E-5
3-50289956-G-A p.Asp81Asn missense GNAI2 6 82600 7.26392E-5 41300 0 3.6013E-5
3-50289958-C-T p.Thr83Ile missense GNAI2 1 82578 1.21098E-5 41289 0 3.99955E-6
3-50289968-G-A p.Ala85Thr missense+splice_region GNAI2 6 82438 7.2782E-5 41219 0 5.43026E-5
3-50289969-C-T p.Ala85Val missense+splice_region GNAI2 270 82392 0.00327702 41196 0 0.00298857
3-50290456-G-A p.Asp86Asn missense+splice_region GNAI2 1 81968 1.21999E-5 40984 0 NA
3-50290458-C-T p.Arg128* stop_gained GNAI2 1 81968 1.21999E-5 40984 0 4.34133E-5
3-50290461-C-T p.Thr89Met missense GNAI2 1 82058 1.21865E-5 41029 0 3.44347E-5
3-50290467-G-A p.Gly91Asp missense GNAI2 1 82272 1.21548E-5 41136 0 1.6151E-4
3-50290473-A-G p.Tyr93Cys missense GNAI2 19 82492 2.30325E-4 41246 0 1.32506E-4
3-50290491-C-T p.Pro99Leu missense GNAI2 6 82738 7.25181E-5 41369 0 5.03525E-4
3-50290492-G-A p.Ala98Thr missense GNAI2 9 82742 1.08772E-4 41371 0 1.27453E-4
3-50290494-C-T p.Arg140* stop_gained GNAI2 12 82760 1.44998E-4 41380 0 3.8219E-4
3-50290500-G-A p.Ser102Asn missense GNAI2 1 82850 1.207E-5 41425 0 NA
3-50290506-C-T p.Ala104Val missense GNAI2 2 82874 2.4133E-5 41437 0 3.98416E-6
3-50290507-G-A p.Val103Met missense GNAI2 5 82888 6.03224E-5 41444 0 5.04541E-4
3-50290507-G-T p.Val103Leu missense GNAI2 1 82888 1.20645E-5 41444 0 NA
3-50290509-G-C p.Cys105Ser missense GNAI2 1 82884 1.20651E-5 41442 0 3.98327E-6
3-50290521-C-T p.Thr109Ile missense GNAI2 1 82938 1.20572E-5 41469 0 NA
3-50290528-G-A p.Gly110Ser missense GNAI2 2 82932 2.41161E-5 41466 0 9.5584E-5
3-50290530-C-T p.Ala112Val missense GNAI2 2 82938 2.41144E-5 41469 0 4.95876E-5
3-50290531-G-A p.Val111Ile missense GNAI2 5 82942 6.02831E-5 41471 0 2.97501E-4
3-50290556-A-G p.His119Arg missense GNAI2 2 82958 2.41086E-5 41479 0 NA
3-50290557-T-C p.Met121Thr missense GNAI2 1 82966 1.20531E-5 41483 0 1.43257E-4
3-50290563-G-A p.Cys123Tyr missense GNAI2 1 82936 1.20575E-5 41468 0 NA
3-50290569-C-T p.Pro125Leu missense GNAI2 1 82900 1.20627E-5 41450 0 NA
3-50290579-C-T p.Arg127Cys missense GNAI2 1 82838 1.20718E-5 41419 0 8.2702E-6
3-50290590-A-G p.Asn132Ser missense GNAI2 1 82772 1.20814E-5 41386 0 8.28007E-6
3-50290602-C-T p.Thr136Met missense GNAI2 2 82588 2.42166E-5 41294 0 5.81154E-5
3-50290617-G-C c.416+1G>C splice_donor GNAI2 1 82218 1.21628E-5 41109 0 NA
3-50290618-T-TACCTGAACGACCTG c.416+2_416+3insACCTGAACGACCTG splice_region GNAI2 1 82196 1.2166E-5 41098 0 NA
3-50293615-CAT-C c.417-8_417-7delAT splice_region GNAI2 11 76516 1.43761E-4 38258 0 2.8041E-4
3-50293616-A-C c.417-8A>C splice_region GNAI2 44 67086 6.55875E-4 33543 0 0.0429948
3-50293616-AT-CC c.417-8_417-7delATinsCC splice_region GNAI2 18 69390 2.59403E-4 34695 0 NA
3-50293616-AT-CA c.417-8_417-7delATinsCA splice_region GNAI2 4 69446 5.75987E-5 34723 0 NA
3-50293617-T-C c.417-7T>C splice_region GNAI2 14 70136 1.99612E-4 35068 0 0.00325984
3-50293617-T-A c.417-7T>A splice_region GNAI2 3 70332 4.26548E-5 35166 0 0.00100759
3-50293617-T-TCCCCCCCCCCC c.417-7_417-6insCCCCCCCCCCC splice_region GNAI2 1 70454 1.41937E-5 35227 0 5.10423E-6
3-50293619-C-T c.417-5C>T splice_region GNAI2 1 72718 1.37518E-5 36359 0 NA
3-50293633-C-T p.Asn142Asn synonymous GNAI2 8 72544 1.10278E-4 36272 0 8.29524E-5
3-50293645-T-A p.Arg146Arg synonymous GNAI2 1 78070 1.2809E-5 39035 0 1.99709E-5
3-50293656-G-A p.Ser150Asn missense GNAI2 1 80390 1.24394E-5 40195 0 3.26648E-5
3-50293666-C-T p.Ile153Ile synonymous GNAI2 1 81516 1.22675E-5 40758 0 5.04541E-4
3-50293688-C-T p.Arg161Trp missense GNAI2 1 82488 1.2123E-5 41244 0 8.28816E-6
3-50293708-G-A p.Thr167Thr synonymous GNAI2 2 82806 2.41528E-5 41403 0 3.19754E-5
3-50293714-C-T p.Ile169Ile synonymous GNAI2 3 82830 3.62188E-5 41415 0 1.71151E-4
3-50293725-A-G p.His173Arg missense GNAI2 1 82824 1.20738E-5 41412 0 NA
3-50293731-C-CG p.Phe176fs frameshift GNAI2 1 82810 1.20758E-5 41405 0 NA
3-50293758-C-T c.545+6C>T splice_region GNAI2 2 82262 2.43126E-5 41131 0 NA
3-50293759-G-A c.545+7G>A splice_region GNAI2 9 82240 1.09436E-4 41120 0 0.001875
3-50294121-C-T n.529C>T splice_region GNAI2 6 83072 7.22265E-5 41536 0 2.72831E-4
3-50294149-C-T c.546-6C>T splice_region GNAI2 1 83266 1.20097E-5 41633 0 8.24307E-6
3-50294173-T-C p.Gly188Gly synonymous GNAI2 2 83282 2.40148E-5 41641 0 NA
3-50294176-G-A p.Gln189Gln synonymous GNAI2 1 83286 1.20068E-5 41643 0 3.29516E-5
3-50294182-T-C p.Ser191Ser synonymous GNAI2 22 83294 2.64125E-4 41647 0 5.09684E-4
3-50294194-G-A p.Lys195Lys synonymous GNAI2 1 83310 1.20034E-5 41655 0 NA
3-50294196-G-A p.Trp196* stop_gained GNAI2 2 83310 2.40067E-5 41655 0 NA
3-50294203-C-T p.His198His synonymous GNAI2 3 83312 3.60092E-5 41656 0 3.18492E-5
3-50294215-C-T p.Gly202Gly synonymous GNAI2 1 83324 1.20013E-5 41662 0 3.18654E-5
3-50294224-C-T p.Ala205Ala synonymous GNAI2 1 83328 1.20008E-5 41664 0 NA
3-50294230-C-A p.Ile207Ile synonymous GNAI2 1 83332 1.20002E-5 41666 0 3.97649E-6
3-50294233-C-T p.Phe208Phe synonymous GNAI2 70 83326 8.40074E-4 41663 3 0.0130916
3-50294236-C-T p.Cys209Cys synonymous GNAI2 2 83318 2.40044E-5 41659 0 6.76025E-5
3-50294237-G-A p.Val210Ile missense GNAI2 1 83330 1.20005E-5 41665 0 1.64745E-5
3-50294254-T-C p.Tyr215Tyr synonymous GNAI2 3 83324 3.6004E-5 41662 0 3.18512E-5
3-50294275-C-T p.Asp222Asp synonymous GNAI2 13 83304 1.56055E-4 41652 0 2.9656E-4
3-50294283-TGGTGAGAGGATGAGAGAATGCTGCGGGTGGGGGCAGCGGGCTTGGGGAGTGGTGGCTAGCGTTGACCTTGCTATTCTACCCCCA-T p.Met225fs frameshift GNAI2 13 83290 1.56081E-4 41645 6 NA
3-50294357-TTCTACCCCCA-T c.676-11_676-2delTCTACCCCCA splice_acceptor GNAI2 1 83244 1.20129E-5 41622 0 NA
3-50294362-C-T c.676-7C>T splice_region GNAI2 5 83252 6.00586E-5 41626 0 0.00125
3-50294363-C-T c.676-6C>T splice_region GNAI2 2 83252 2.40234E-5 41626 0 NA
3-50294379-A-T p.His229Leu missense GNAI2 1 83282 1.20074E-5 41641 0 NA
3-50294397-T-C p.Phe235Ser missense GNAI2 1 83308 1.20036E-5 41654 0 NA
3-50294398-C-T p.Phe235Phe synonymous GNAI2 4 83308 4.80146E-5 41654 0 4.37414E-5
3-50294419-G-A p.Lys242Lys synonymous GNAI2 1 83326 1.20011E-5 41663 0 NA
3-50294472-A-T p.Glu260Val missense GNAI2 2 83278 2.40159E-5 41639 0 NA
3-50294490-G-A p.Ser266Asn missense GNAI2 1 83230 1.20149E-5 41615 0 3.97706E-6
3-50294494-C-T p.Pro267Pro synonymous GNAI2 43 83210 5.16765E-4 41605 0 0.003125
3-50294506-C-T p.Cys271Cys synonymous GNAI2 6 83158 7.21518E-5 41579 0 1.56711E-4
3-50294510-C-T p.Pro273Ser missense GNAI2 1 83124 1.20302E-5 41562 0 NA
3-50294518-C-T p.Tyr275Tyr synonymous GNAI2 2 83042 2.40842E-5 41521 0 NA
3-50294928-C-T c.830-4C>T splice_region GNAI2 2 81336 2.45894E-5 40668 0 3.18593E-5
3-50294928-C-A c.830-4C>A splice_region GNAI2 2 81336 2.45894E-5 40668 0 NA
3-50294929-C-T c.830-3C>T splice_region GNAI2 2 81400 2.457E-5 40700 0 2.88595E-5
3-50294929-C-G c.830-3C>G splice_region GNAI2 1 81400 1.2285E-5 40700 0 NA
3-50294933-G-A p.Gly277Gly splice_region+synonymous GNAI2 2 81584 2.45146E-5 40792 0 2.84533E-5
3-50294943-T-C p.Tyr281His missense GNAI2 1 81992 1.21963E-5 40996 0 NA
3-50294955-G-T p.Ala285Ser missense GNAI2 1 82274 1.21545E-5 41137 0 NA
3-50294961-T-C p.Tyr287His missense GNAI2 1 82444 1.21294E-5 41222 0 4.30359E-6
3-50294967-C-A p.Gln289Lys missense GNAI2 2 82562 2.42242E-5 41281 0 NA
3-50294971-G-A p.Ser290Asn missense GNAI2 3 82622 3.63099E-5 41311 0 NA
3-50294980-A-ATTTTTTTTTTAAT p.Glu293fs frameshift GNAI2 1 82704 1.20913E-5 41352 0 NA
3-50294984-C-CTTTTTTA p.Leu295fs frameshift GNAI2 105 82458 0.00127338 41229 0 0.0016163
3-50294985-C-A p.Leu295Met missense GNAI2 8 82258 9.7255E-5 41129 0 0.00486272
3-50294985-C-CTTTTTAA p.Asn296fs frameshift GNAI2 1 82762 1.20828E-5 41381 0 NA
3-50294987-GA-G p.Asn296fs frameshift GNAI2 90 82464 0.00109139 41232 0 0.00486231
3-50294992-A-C p.Lys297Thr missense GNAI2 4 82254 4.86299E-5 41127 0 0.00467193
3-50294993-GC-G p.Arg298fs frameshift GNAI2 78 82408 9.4651E-4 41204 0 0.00713558
3-50294995-G-A p.Arg298His missense GNAI2 1 82742 1.20858E-5 41371 0 3.07444E-5
3-50294996-CAAA-C p.Lys299del conservative_inframe_deletion GNAI2 96 82416 0.00116482 41208 0 0.00821376
3-50295001-A-AC p.Thr301fs frameshift GNAI2 101 82410 0.00122558 41205 0 0.0146088
3-50295004-C-G p.Thr301Ser missense GNAI2 21 82756 2.53758E-4 41378 0 2.54923E-4
3-50295005-CAAG-C p.Lys302del conservative_inframe_deletion GNAI2 98 82404 0.00118926 41202 0 0.00790931
3-50295020-G-A p.Thr306Thr synonymous GNAI2 3 82620 3.63108E-5 41310 0 0.00453172
3-50295029-G-T p.Thr309Thr synonymous GNAI2 6 82568 7.26674E-5 41284 0 1.59368E-4
3-50295032-C-T p.Cys310Cys synonymous GNAI2 1 82514 1.21192E-5 41257 0 5.03525E-4
3-50295044-C-A p.Thr314Thr synonymous GNAI2 2 82560 2.42248E-5 41280 0 1.16372E-4
3-50295051-G-A p.Val317Met missense GNAI2 2 82404 2.42707E-5 41202 0 6.37105E-5
3-50295053-G-A p.Val317Val synonymous GNAI2 1 82364 1.21412E-5 41182 0 NA
3-50295059-C-T p.Phe319Phe synonymous GNAI2 1 82146 1.21734E-5 41073 0 6.37308E-5
3-50295068-C-T p.Asp322Asp synonymous GNAI2 6 81722 7.34196E-5 40861 0 4.47737E-5
3-50295071-C-T p.Ala323Ala synonymous GNAI2 2 81418 2.45646E-5 40709 0 1.63111E-5
3-50295072-G-A p.Val324Ile missense GNAI2 3 81362 3.68723E-5 40681 0 3.18654E-5
3-50295077-C-T p.Thr325Thr synonymous GNAI2 2 81134 2.46506E-5 40567 0 1.73551E-5
3-50296328-AG-A c.*555delG splice_region GNAI2 1084 51178 0.021181 25589 48 0.0819432
3-50296329-GGA-G c.*555_*1209delGA splice_region GNAI2 2 51732 3.86608E-5 25866 0 2.94878E-4
3-50296330-G-A c.*555G>A splice_region GNAI2 73 51392 0.00142045 25696 0 0.0656436