Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
16-57576420-G-T c.-232G>T 5_prime_UTR_premature_start_codon_gain GPR114 12 358 0.0335196 179 0 0.076168
16-57576577-C-T c.-75C>T 5_prime_UTR_premature_start_codon_gain GPR114 2 2922 6.84463E-4 1461 0 1.27502E-4
16-57576588-C-T c.-64C>T 5_prime_UTR_premature_start_codon_gain GPR114 1 2936 3.40599E-4 1468 0 4.14197E-4
16-57577092-G-A c.-39+7G>A splice_region GPR114 1 712 0.00140449 356 0 0.0185374
16-57595970-C-T c.-36C>T splice_region GPR114 1 77902 1.28366E-5 38951 0 8.02028E-5
16-57595971-C-T c.-35C>T 5_prime_UTR_premature_start_codon_gain GPR114 2 78006 2.56391E-5 39003 0 2.69673E-5
16-57596017-T-G p.Cys4Trp missense GPR114 1 80702 1.23913E-5 40351 0 3.28297E-5
16-57596034-G-T p.Cys10Phe missense GPR114 2 80674 2.47911E-5 40337 0 8.64439E-6
16-57596035-C-T p.Cys10Cys synonymous GPR114 1 80654 1.23986E-5 40327 0 NA
16-57596051-T-G p.Leu16Val missense GPR114 2 80490 2.48478E-5 40245 0 8.11609E-6
16-57596058-A-C p.Asn18Thr missense GPR114 61 80314 7.59519E-4 40157 0 0.00302115
16-57596058-A-G p.Asn18Ser missense GPR114 1 80320 1.24502E-5 40160 0 NA
16-57596060-G-C p.Ala19Pro missense GPR114 1 80210 1.24673E-5 40105 0 8.65007E-6
16-57596063-A-G p.Thr20Ala missense GPR114 142 80178 0.00177106 40089 0 0.0039814
16-57596069-G-GAGACATGGGAAGAACTCCTGAGCTACATGGAGAATATGCAGGT c.64_64+1insAGACATGGGAAGAACTCCTGAGCTACATGGAGAATATGCAGGT splice_donor GPR114 4 79976 5.0015E-5 39988 2 NA
16-57596289-C-G c.65-7C>G splice_region GPR114 122 82850 0.00147254 41425 1 0.00277707
16-57596299-C-T p.Thr23Ile missense GPR114 1 82892 1.20639E-5 41446 0 5.53618E-5
16-57596300-A-G p.Thr23Thr synonymous GPR114 1 82876 1.20662E-5 41438 0 2.75315E-5
16-57596306-A-G p.Glu25Glu synonymous GPR114 1 82896 1.20633E-5 41448 0 NA
16-57596309-ACT-A p.Leu27fs frameshift GPR114 1 82894 1.20636E-5 41447 0 NA
16-57596312-C-T p.Leu27Leu synonymous GPR114 2 82892 2.41278E-5 41446 0 6.25E-4
16-57596318-C-G p.Ser29Arg missense GPR114 26 82886 3.13684E-4 41443 0 5.60463E-4
16-57596322-A-T p.Met31Leu missense GPR114 52 82892 6.27322E-4 41446 0 8.94797E-4
16-57596334-C-A p.Gln35Lys missense GPR114 2 82824 2.41476E-5 41412 0 NA
16-57596343-A-G p.Arg38Gly missense GPR114 1 82778 1.20805E-5 41389 0 1.26291E-5
16-57596347-G-T p.Gly39Val missense GPR114 1 82760 1.20831E-5 41380 0 4.23736E-6
16-57596349-C-T p.Arg40Trp missense GPR114 2 82730 2.4175E-5 41365 0 1.70509E-5
16-57596350-G-A p.Arg40Gln missense GPR114 4 82726 4.83524E-5 41363 0 8.56003E-6
16-57596358-G-C p.Val43Leu missense GPR114 1 82674 1.20957E-5 41337 0 NA
16-57596364-T-C p.Ser45Pro missense GPR114 1 82644 1.21001E-5 41322 0 4.43369E-6
16-57596365-C-T p.Ser45Phe missense GPR114 1 82640 1.21007E-5 41320 0 NA
16-57596370-C-T p.Arg47Cys missense+splice_region GPR114 4 82598 4.84273E-5 41299 0 0.0020141
16-57596371-G-A p.Arg47His missense+splice_region GPR114 50 82574 6.05517E-4 41287 0 0.00504032
16-57596371-G-GTCAACTCCACCAGCTGGAGCAGATGCTACTGAACACCAGCTTCCCA c.140_140+1insTCAACTCCACCAGCTGGAGCAGATGCTACTGAACACCAGCTTCCCA splice_donor GPR114 1 82580 1.21095E-5 41290 0 NA
16-57596506-T-TG n.365dupG splice_region GPR114 3 65636 4.57066E-5 32818 0 6.37064E-5
16-57596513-G-A n.368G>A splice_region GPR114 1 62936 1.58892E-5 31468 0 NA
16-57597005-A-G p.Gln48Arg missense+splice_region GPR114 6 82786 7.2476E-5 41393 0 4.94511E-5
16-57597016-C-T p.Leu52Leu synonymous GPR114 1 82894 1.20636E-5 41447 0 1.59103E-5
16-57597062-C-A p.Thr67Asn missense GPR114 1 83056 1.20401E-5 41528 0 NA
16-57597063-C-G p.Thr67Thr synonymous GPR114 1 83060 1.20395E-5 41530 0 NA
16-57597069-G-A p.Gln69Gln synonymous GPR114 1 83040 1.20424E-5 41520 0 8.23818E-6
16-57597077-C-T p.Thr72Ile missense GPR114 2 83078 2.40738E-5 41539 0 6.25E-4
16-57597083-A-T p.Gln74Leu missense GPR114 1 83086 1.20357E-5 41543 0 NA
16-57597088-C-A p.Leu76Met missense GPR114 1 83092 1.20349E-5 41546 0 NA
16-57597091-G-A p.Ala77Thr missense GPR114 1 83086 1.20357E-5 41543 0 1.59236E-4
16-57597126-G-A p.Ser88Ser synonymous GPR114 217 82822 0.00262008 41411 1 0.00503525
16-57597132-C-G p.Thr90Thr synonymous GPR114 2 82748 2.41698E-5 41374 0 8.24661E-6
16-57597132-C-T p.Thr90Thr synonymous GPR114 3 82748 3.62547E-5 41374 0 3.18451E-5
16-57597142-C-A p.Leu94Met missense GPR114 8 82636 9.68101E-5 41318 0 1.67185E-4
16-57597147-G-T p.Lys95Asn missense GPR114 49 82476 5.94112E-4 41238 0 0.0015614
16-57597148-C-G p.Arg96Gly missense GPR114 64 82420 7.76511E-4 41210 0 0.00251762
16-57597148-C-T p.Arg96Trp missense GPR114 1 82424 1.21324E-5 41212 0 1.1951E-5
16-57597149-G-A p.Arg96Gln missense GPR114 3 82352 3.6429E-5 41176 0 2.47938E-5
16-57597153-G-A p.Val97Val synonymous GPR114 1 82106 1.21794E-5 41053 0 8.2672E-6
16-57597760-G-A p.Ala100Thr missense+splice_region GPR114 30 81734 3.67044E-4 40867 0 0.00101963
16-57597768-T-C p.Gly102Gly synonymous GPR114 1 81782 1.22276E-5 40891 0 8.30606E-6
16-57597773-A-G p.His104Arg missense GPR114 1 81876 1.22136E-5 40938 0 8.29944E-6
16-57597776-C-T p.Ala105Val missense GPR114 2 81888 2.44236E-5 40944 0 3.98394E-6
16-57597779-G-C p.Arg106Pro missense GPR114 4 81924 4.88257E-5 40962 0 3.31791E-5
16-57597789-C-T p.His109His synonymous GPR114 1 82038 1.21895E-5 41019 0 1.07685E-4
16-57597790-G-A p.Ala110Thr missense GPR114 1 82016 1.21927E-5 41008 0 3.98178E-6
16-57597792-C-A p.Ala110Ala synonymous GPR114 1 82088 1.2182E-5 41044 0 5.03525E-4
16-57597804-C-T p.Pro114Pro synonymous GPR114 2 82210 2.43279E-5 41105 0 6.3743E-5
16-57597805-G-A p.Ala115Thr missense GPR114 2 82168 2.43404E-5 41084 0 4.14704E-5
16-57597807-C-T p.Ala115Ala synonymous GPR114 2 82150 2.43457E-5 41075 0 5.03525E-4
16-57597808-G-A p.Glu116Lys missense GPR114 1 82174 1.21693E-5 41087 0 8.29132E-6
16-57597817-C-T p.Arg119Trp missense GPR114 10 82296 1.21513E-4 41148 0 5.03525E-4
16-57597818-G-A p.Arg119Gln missense GPR114 1 82330 1.21462E-5 41165 0 3.31225E-5
16-57597822-C-T p.Asp120Asp synonymous GPR114 6 82366 7.28456E-5 41183 0 1.43262E-4
16-57597823-G-A p.Ala121Thr missense GPR114 2 82390 2.42748E-5 41195 0 6.3743E-5
16-57597835-C-T p.Arg125Cys missense GPR114 4 82586 4.84344E-5 41293 0 5.03525E-4
16-57597857-T-C p.Ile132Thr missense GPR114 1 82732 1.20872E-5 41366 0 6.60382E-5
16-57597861-T-C p.Cys133Cys synonymous GPR114 1 82760 1.20831E-5 41380 0 NA
16-57597863-T-C p.Ile134Thr missense GPR114 4 82748 4.83395E-5 41374 0 6.37146E-5
16-57597864-C-G p.Ile134Met missense GPR114 1 82764 1.20825E-5 41382 0 NA
16-57597866-A-G p.Tyr135Cys missense GPR114 2 82772 2.41628E-5 41386 0 NA
16-57597877-A-C p.Thr139Pro missense GPR114 3 82808 3.62284E-5 41404 0 2.48143E-5
16-57597880-C-A p.His140Asn missense GPR114 1 82818 1.20747E-5 41409 0 NA
16-57597887-T-G p.Phe142Cys missense GPR114 2 82788 2.41581E-5 41394 0 6.25E-4
16-57597890-A-C p.Lys143Thr missense+splice_region GPR114 1 82770 1.20817E-5 41385 0 NA
16-57597896-G-C c.429+5G>C splice_region GPR114 1 82762 1.20828E-5 41381 0 7.50651E-5
16-57597898-G-A c.429+7G>A splice_region GPR114 1 82768 1.2082E-5 41384 0 3.18715E-5
16-57598939-C-T c.430-7C>T splice_region GPR114 1 83060 1.20395E-5 41530 0 1.31842E-4
16-57598947-A-G p.Asp144Gly missense+splice_region GPR114 6 83168 7.21431E-5 41584 0 2.54891E-4
16-57598957-C-T p.Asn147Asn synonymous GPR114 3 83268 3.60282E-5 41634 0 3.18532E-5
16-57598959-C-A p.Ser148* stop_gained GPR114 1 83282 1.20074E-5 41641 0 NA
16-57598962-C-T p.Ser149Phe missense GPR114 1 83288 1.20065E-5 41644 0 8.27527E-6
16-57598968-T-G p.Leu151Arg missense GPR114 1 83306 1.20039E-5 41653 0 8.26187E-6
16-57598971-A-C p.Asn152Thr missense GPR114 1 83306 1.20039E-5 41653 0 NA
16-57598974-A-G p.Asn153Ser missense GPR114 4 83326 4.80042E-5 41663 0 1.1934E-5
16-57598978-C-T p.Tyr154Tyr synonymous GPR114 66 83330 7.92032E-4 41665 1 0.0020141
16-57598978-C-A p.Tyr154* stop_gained GPR114 1 83334 1.19999E-5 41667 0 1.65057E-5
16-57598979-G-A p.Val155Ile missense GPR114 4 83340 4.79962E-5 41670 0 6.25E-4
16-57598989-C-T p.Ala158Val missense GPR114 2 83338 2.39987E-5 41669 0 NA
16-57599008-C-A p.His164Gln missense GPR114 15 83352 1.7996E-4 41676 0 0.00125
16-57599008-C-T p.His164His synonymous GPR114 2 83352 2.39946E-5 41676 0 6.3743E-5
16-57599009-G-A p.Val165Met missense GPR114 3 83348 3.59937E-5 41674 0 3.29755E-5
16-57599013-A-G p.Asn166Ser missense GPR114 4 83344 4.79939E-5 41672 0 1.64872E-5
16-57599042-T-C p.Phe176Leu missense GPR114 2 83326 2.40021E-5 41663 0 NA
16-57599045-T-A p.Trp177Arg missense GPR114 1 83318 1.20022E-5 41659 0 1.59129E-5
16-57599059-C-T p.Ser181Ser synonymous GPR114 1 83248 1.20123E-5 41624 0 3.9821E-6
16-57599065-A-G c.546+3A>G splice_region GPR114 1 83164 1.20244E-5 41582 0 3.98508E-6
16-57600504-C-T c.547-7C>T splice_region GPR114 1 80806 1.23753E-5 40403 0 6.24664E-6
16-57600515-G-A p.Gly184Asp missense GPR114 1 81256 1.23068E-5 40628 0 2.77294E-5
16-57600518-A-G p.Tyr185Cys missense GPR114 5 81270 6.15233E-5 40635 0 2.68933E-5
16-57600555-G-A p.Arg197Arg synonymous GPR114 7 81888 8.54826E-5 40944 0 6.37349E-5
16-57600565-T-TG p.Trp204fs frameshift GPR114 1 81910 1.22085E-5 40955 0 3.38689E-4
16-57600565-TG-T p.Gly203fs frameshift GPR114 1 81922 1.22067E-5 40961 0 3.55847E-5
16-57600566-G-C p.Trp201Ser missense GPR114 5 81890 6.10575E-5 40945 0 3.18857E-5
16-57600566-G-T p.Trp201Leu missense GPR114 1 81890 1.22115E-5 40945 0 NA
16-57600567-G-T p.Trp201Cys missense GPR114 5 81870 6.10724E-5 40935 0 3.18715E-5
16-57600567-G-C p.Trp201Cys missense GPR114 1 81870 1.22145E-5 40935 0 3.18715E-5
16-57600568-G-C p.Gly202Arg missense GPR114 10 81900 1.221E-4 40950 0 2.86862E-4
16-57600568-G-T p.Gly202Trp missense GPR114 4 81902 4.88389E-5 40951 0 6.25E-4
16-57600568-G-A p.Gly202Arg missense GPR114 2 81902 2.44194E-5 40951 0 8.63275E-6
16-57600571-G-A p.Gly203Ser missense GPR114 3 81882 3.66381E-5 40941 0 4.7353E-5
16-57600571-G-T p.Gly203Cys missense GPR114 3 81882 3.66381E-5 40941 0 2.24126E-4
16-57600571-G-C p.Gly203Arg missense GPR114 4 81882 4.88508E-5 40941 0 1.27478E-4
16-57600589-T-G p.Cys209Gly missense GPR114 7 81820 8.55537E-5 40910 0 6.00358E-5
16-57600592-C-T p.Arg210Cys missense GPR114 2 81808 2.44475E-5 40904 0 6.87474E-5
16-57600593-G-A p.Arg210His missense GPR114 1 81818 1.22222E-5 40909 0 2.15625E-5
16-57600603-G-C p.Gln213His missense GPR114 1 81768 1.22297E-5 40884 0 3.1902E-5
16-57600604-C-G p.Pro214Ala missense GPR114 33 81780 4.03522E-4 40890 0 7.92175E-4
16-57600628-C-T p.Arg222Cys missense GPR114 4 81468 4.9099E-5 40734 0 1.85331E-5
16-57600629-G-T p.Arg222Leu missense GPR114 32 81462 3.92821E-4 40731 0 0.00100705
16-57600650-TTGC-T p.Ala230del disruptive_inframe_deletion GPR114 1 81026 1.23417E-5 40513 0 5.10965E-6
16-57600655-G-A p.Val231Ile missense GPR114 1 80960 1.23518E-5 40480 0 NA
16-57600658-C-T p.Leu232Phe missense GPR114 1 80848 1.23689E-5 40424 0 1.06872E-5
16-57600660-C-T p.Leu232Leu synonymous GPR114 2 80760 2.47647E-5 40380 0 NA
16-57600670-A-G c.699+7A>G splice_region GPR114 983 80038 0.0122817 40019 8 0.0186707
16-57600670-A-T c.699+7A>T splice_region GPR114 1 80092 1.24856E-5 40046 0 NA
16-57601379-C-T c.700-3C>T splice_region GPR114 1 82106 1.21794E-5 41053 0 NA
16-57601389-C-T p.Ser236Phe missense GPR114 1 82262 1.21563E-5 41131 0 8.27554E-6
16-57601391-C-T p.Pro237Ser missense GPR114 3 82278 3.64618E-5 41139 0 1.59541E-4
16-57601403-C-G p.Pro241Ala missense GPR114 1 82418 1.21333E-5 41209 0 NA
16-57601403-C-T p.Pro241Ser missense GPR114 1 82418 1.21333E-5 41209 0 8.262E-6
16-57601414-G-T p.Leu244Phe missense GPR114 5 82520 6.05914E-5 41260 0 1.27722E-4
16-57601429-G-A p.Thr249Thr synonymous GPR114 2 82576 2.42201E-5 41288 0 3.19387E-5
16-57601441-C-T p.Leu253Leu synonymous GPR114 1 82570 1.21109E-5 41285 0 9.9984E-5
16-57601454-A-G p.Ile258Val missense GPR114 2 82596 2.42142E-5 41298 0 1.59912E-5
16-57601458-C-G p.Ser259Cys missense GPR114 3 82604 3.63179E-5 41302 0 6.3861E-5
16-57601459-C-T p.Ser259Ser synonymous GPR114 1 82604 1.2106E-5 41302 0 NA
16-57601460-A-G p.Ile260Val missense GPR114 2 82602 2.42125E-5 41301 0 2.47492E-5
16-57601462-C-T p.Ile260Ile synonymous GPR114 3 82580 3.63284E-5 41290 0 4.95058E-5
16-57601463-G-A p.Val261Met missense GPR114 1 82572 1.21106E-5 41286 0 4.12528E-5
16-57601470-C-T p.Ser263Leu missense GPR114 1 82498 1.21215E-5 41249 0 8.25191E-6
16-57601471-G-A p.Ser263Ser synonymous GPR114 4 82468 4.85037E-5 41234 0 3.60415E-5
16-57601480-A-C p.Thr266Thr synonymous GPR114 1 82460 1.21271E-5 41230 0 NA
16-57601510-C-T c.821+7C>T splice_region GPR114 1 81816 1.22225E-5 40908 0 3.63484E-5
16-57601511-G-A c.821+8G>A splice_region GPR114 3 81686 3.6726E-5 40843 0 3.20246E-5
16-57601765-C-T c.822-3C>T splice_region GPR114 12 80972 1.48199E-4 40486 0 NA
16-57601774-G-A p.Gln276Gln synonymous GPR114 1 81424 1.22814E-5 40712 0 6.38121E-5
16-57601783-C-T p.Ser279Ser synonymous GPR114 1 81782 1.22276E-5 40891 0 4.03629E-6
16-57601790-CGC-TGT p.Arg282Cys missense GPR114 1 81950 1.22026E-5 40975 0 NA
16-57601792-C-T p.Arg282Arg synonymous GPR114 25451 80558 0.315934 40279 4466 0.375658
16-57601792-CAT-TAC p.ArgIle282ArgThr missense GPR114 1 82004 1.21945E-5 41002 0 NA
16-57601794-T-C p.Ile283Thr missense GPR114 1 82084 1.21826E-5 41042 0 3.19346E-5
16-57601799-A-G p.Met285Val missense GPR114 12 82186 1.4601E-4 41093 0 2.80476E-5
16-57601807-G-T p.Leu287Leu synonymous GPR114 1 82290 1.21521E-5 41145 0 3.19264E-5
16-57601816-C-T p.Ser290Ser synonymous GPR114 4 82394 4.85472E-5 41197 0 0.0020141
16-57601828-G-A p.Leu294Leu synonymous GPR114 1 82538 1.21156E-5 41269 0 3.98899E-6
16-57601834-C-T p.Ile296Ile synonymous GPR114 4 82506 4.84813E-5 41253 0 1.16599E-4
16-57601835-G-A p.Ala297Thr missense GPR114 1 82462 1.21268E-5 41231 0 NA
16-57601844-C-G p.Leu300Val missense GPR114 109 82494 0.00132131 41247 0 0.00258621
16-57601855-A-G p.Ala303Ala synonymous GPR114 28 82588 3.39032E-4 41294 0 5.03525E-4
16-57601862-AT-TC p.Met306Ser missense GPR114 1 82614 1.21045E-5 41307 0 NA
16-57601876-C-T p.Pro310Pro synonymous GPR114 3 82696 3.62775E-5 41348 0 5.03525E-4
16-57601877-G-A p.Gly311Arg missense GPR114 2 82696 2.4185E-5 41348 0 1.65169E-5
16-57601881-C-A p.Ser312* stop_gained GPR114 1 82722 1.20887E-5 41361 0 NA
16-57601885-A-G p.Ala313Ala synonymous GPR114 8 82734 9.66954E-5 41367 0 3.19326E-5
16-57601890-C-T p.Thr315Met missense GPR114 7 82706 8.46371E-5 41353 0 0.0020141
16-57601891-G-A p.Thr315Thr synonymous GPR114 17 82712 2.05532E-4 41356 0 4.04357E-4
16-57601895-C-G p.Leu317Val missense GPR114 1 82750 1.20846E-5 41375 0 NA
16-57601900-C-T p.Ala318Ala synonymous GPR114 1 82776 1.20808E-5 41388 0 3.29973E-5
16-57601901-G-A p.Ala319Thr missense GPR114 3 82750 3.62538E-5 41375 0 5.77396E-5
16-57601901-G-C p.Ala319Pro missense GPR114 1 82750 1.20846E-5 41375 0 8.24851E-6
16-57601905-C-T p.Ala320Val missense GPR114 16 82806 1.93223E-4 41403 0 5.1066E-4
16-57601915-C-T p.Tyr323Tyr synonymous GPR114 1 82866 1.20677E-5 41433 0 NA
16-57601917-C-T p.Ala324Val missense GPR114 4 82868 4.82695E-5 41434 0 1.64905E-5
16-57601935-C-T p.Thr330Ile missense GPR114 5 82974 6.02598E-5 41487 0 9.57304E-5
16-57601948-C-A p.Ile334Ile synonymous GPR114 5 82986 6.02511E-5 41493 0 6.38488E-5
16-57601948-C-T p.Ile334Ile synonymous GPR114 1 82986 1.20502E-5 41493 0 3.97798E-6
16-57601965-A-G p.Tyr340Cys missense GPR114 1 83038 1.20427E-5 41519 0 3.1955E-5
16-57601975-C-T p.Leu343Leu synonymous GPR114 18 83068 2.1669E-4 41534 1 0.0025
16-57601976-G-A p.Gly344Arg missense GPR114 1 83058 1.20398E-5 41529 0 8.24171E-6
16-57601979-C-T p.Arg345Cys missense GPR114 3 83062 3.61176E-5 41531 0 6.38733E-5
16-57601980-G-A p.Arg345His missense GPR114 1 83066 1.20386E-5 41533 0 3.19346E-5
16-57601982-G-C p.Val346Leu missense GPR114 510 83078 0.00613881 41539 1 0.00504502
16-57601990-C-T p.Asn348Asn synonymous GPR114 1 83082 1.20363E-5 41541 0 8.24131E-6
16-57601997-A-C p.Ile351Leu missense GPR114 1 83070 1.2038E-5 41535 0 3.97956E-6
16-57602000-C-T p.Arg352Cys missense GPR114 26 83074 3.12974E-4 41537 0 0.0025
16-57602001-G-A p.Arg352His missense GPR114 1394 83038 0.0167875 41519 57 0.0332524
16-57602024-G-A p.Val360Met missense GPR114 5 82992 6.02468E-5 41496 0 2.39244E-5
16-57602027-C-G p.Leu361Val missense GPR114 2 82994 2.40981E-5 41497 0 8.25287E-6
16-57602042-C-G c.1090+6C>G splice_region GPR114 1 82824 1.20738E-5 41412 0 NA
16-57604317-TCCCACCCCTCAGGGGC-T p.Gly364fs frameshift GPR114 1 82466 1.21262E-5 41233 0 2.00968E-5
16-57604322-C-T c.1091-8C>T splice_region GPR114 1 82546 1.21145E-5 41273 0 NA
16-57604323-C-G c.1091-7C>G splice_region GPR114 1 82564 1.21118E-5 41282 0 8.3545E-6
16-57604326-T-G c.1091-4T>G splice_region GPR114 2 82608 2.42107E-5 41304 0 4.0067E-6
16-57604330-G-C p.Gly364Ala missense+splice_region GPR114 2 82682 2.41891E-5 41341 0 3.18512E-5
16-57604343-C-T p.Leu368Leu synonymous GPR114 36 82856 4.34489E-4 41428 0 3.27413E-4
16-57604351-T-G p.Leu371Arg missense GPR114 11 82920 1.32658E-4 41460 0 0.00151057
16-57604351-T-C p.Leu371Pro missense GPR114 1 82920 1.20598E-5 41460 0 NA
16-57604358-C-G p.Ser373Ser synonymous GPR114 1 82944 1.20563E-5 41472 0 NA
16-57604375-C-T p.Ser379Leu missense GPR114 1 82992 1.20494E-5 41496 0 3.1839E-5
16-57604379-A-G p.Val380Val synonymous GPR114 2 83006 2.40946E-5 41503 0 2.78847E-5
16-57604380-T-A p.Tyr381Asn missense GPR114 1 83020 1.20453E-5 41510 0 NA
16-57604382-C-T p.Tyr381Tyr synonymous GPR114 3 83006 3.6142E-5 41503 0 4.97488E-5
16-57604383-G-A p.Gly382Arg missense GPR114 1 82998 1.20485E-5 41499 0 8.29022E-6
16-57604398-C-T p.Pro387Ser missense GPR114 1 83026 1.20444E-5 41513 0 7.45774E-5
16-57604400-C-T p.Pro387Pro synonymous GPR114 11 83014 1.32508E-4 41507 0 0.00125
16-57604401-G-A p.Val388Ile missense GPR114 13 83000 1.56627E-4 41500 0 6.25E-4
16-57604406-C-T p.Phe389Phe synonymous GPR114 2 83000 2.40964E-5 41500 0 4.97117E-5
16-57604407-G-A p.Asp390Asn missense GPR114 12 83000 1.44578E-4 41500 1 5.57747E-5
16-57604411-G-A p.Ser391Asn missense GPR114 2 83006 2.40946E-5 41503 0 1.82261E-4
16-57604416-G-A p.Glu393Lys missense GPR114 1 82974 1.2052E-5 41487 0 NA
16-57604429-G-C p.Gly397Ala missense GPR114 21 82918 2.53262E-4 41459 0 5.09392E-4
16-57604439-C-T p.Asn400Asn synonymous GPR114 1 82858 1.20688E-5 41429 0 NA
16-57608734-G-A p.Val406Met missense GPR114 1 80386 1.244E-5 40193 0 6.27791E-5
16-57608738-G-A p.Arg407Gln missense GPR114 1 80398 1.24381E-5 40199 0 1.78403E-5
16-57608743-C-T p.Pro409Ser missense GPR114 2 80672 2.47917E-5 40336 0 8.85128E-6
16-57608745-C-T p.Pro409Pro synonymous GPR114 5 80724 6.19394E-5 40362 0 5.29624E-5
16-57608751-G-A p.Val411Val synonymous GPR114 1 80842 1.23698E-5 40421 0 6.25782E-4
16-57608753-A-G p.His412Arg missense GPR114 12 80900 1.48331E-4 40450 0 2.78329E-4
16-57608769-G-C p.Met417Ile missense GPR114 1 81188 1.23171E-5 40594 0 NA
16-57608775-C-T p.Tyr419Tyr synonymous GPR114 2 81266 2.46105E-5 40633 0 3.18715E-5
16-57608776-G-A p.Gly420Ser missense GPR114 1 81332 1.22953E-5 40666 0 9.24214E-5
16-57608778-C-T p.Gly420Gly synonymous GPR114 2 81310 2.45972E-5 40655 0 0.00151515
16-57608779-G-A p.Gly421Ser missense GPR114 10 81392 1.22862E-4 40696 0 6.25782E-4
16-57608787-G-A p.Thr423Thr synonymous GPR114 4 81412 4.91328E-5 40706 0 5.25741E-5
16-57608797-A-G p.Asn427Asp missense GPR114 5 81684 6.12115E-5 40842 0 6.37714E-5
16-57608806-G-T p.Val430Leu missense GPR114 1 81718 1.22372E-5 40859 0 NA
16-57608820-G-A p.Ala434Ala synonymous GPR114 7 81704 8.56751E-5 40852 0 9.56206E-5
16-57608823-G-A p.Leu435Leu synonymous GPR114 3 81840 3.66569E-5 40920 0 8.3275E-6
16-57608832-G-C p.Leu438Leu synonymous GPR114 3 81934 3.66148E-5 40967 0 3.18776E-5
16-57608833-C-T p.Arg439Cys missense GPR114 6 81900 7.32601E-5 40950 0 9.56572E-5
16-57608834-G-A p.Arg439His missense GPR114 3 81946 3.66095E-5 40973 0 1.33369E-4
16-57608842-C-T p.Arg442Trp missense GPR114 1 82068 1.2185E-5 41034 0 3.61925E-5
16-57608843-G-A p.Arg442Gln missense GPR114 2 82208 2.43285E-5 41104 0 3.18817E-5
16-57608849-G-A p.Arg444Gln missense GPR114 11 82184 1.33846E-4 41092 0 5.03525E-4
16-57608852-C-T p.Ala445Val missense GPR114 8 82224 9.72952E-5 41112 0 3.61208E-5
16-57608853-G-A p.Ala445Ala synonymous GPR114 3 82282 3.646E-5 41141 0 9.5584E-5
16-57608860-C-T p.Pro448Ser missense GPR114 1 82388 1.21377E-5 41194 0 8.01706E-6
16-57608866-G-T p.Val450Phe missense GPR114 6 82388 7.28261E-5 41194 0 3.18715E-5
16-57608875-T-C p.Cys453Arg missense GPR114 1 82580 1.21095E-5 41290 0 5.04032E-4
16-57608877-C-T p.Cys453Cys synonymous GPR114 1 82574 1.21103E-5 41287 0 3.18634E-5
16-57608887-G-A p.Val457Ile missense GPR114 16 82620 1.93658E-4 41310 0 3.91484E-4
16-57608896-C-T p.Leu460Leu synonymous GPR114 1 82636 1.21013E-5 41318 0 NA
16-57608898-G-A p.Leu460Leu synonymous GPR114 1 82644 1.21001E-5 41322 0 NA
16-57608905-A-G p.Thr463Ala missense GPR114 1 82682 1.20945E-5 41341 0 NA
16-57608908-G-A p.Val464Met missense GPR114 2 82678 2.41902E-5 41339 0 8.00077E-6
16-57608910-G-A p.Val464Val synonymous GPR114 33 82672 3.99168E-4 41336 0 6.69173E-4
16-57608913-G-T p.Leu465Leu synonymous GPR114 1 82670 1.20963E-5 41335 0 4.00026E-6
16-57608913-G-A p.Leu465Leu synonymous GPR114 1 82670 1.20963E-5 41335 0 NA
16-57608914-CTGGGAACCACCTG-C p.Leu466fs frameshift GPR114 1 82670 1.20963E-5 41335 0 NA
16-57608955-C-T p.Val479Val synonymous GPR114 2821 82178 0.0343279 41089 223 0.0648402
16-57608963-T-A p.Leu482Gln missense GPR114 1 82108 1.21791E-5 41054 0 NA
16-57608973-G-T p.Leu485Leu synonymous GPR114 2 81990 2.43932E-5 40995 0 4.017E-6
16-57608977-C-G p.Leu487Val missense GPR114 11 81952 1.34225E-4 40976 0 5.01454E-5
16-57609000-C-G p.Leu494Leu synonymous GPR114 3172 81338 0.0389978 40669 147 0.0706459
16-57609003-C-T p.Tyr495Tyr splice_region+synonymous GPR114 12 81426 1.47373E-4 40713 0 0.00151057
16-57609004-G-C p.Gly496Arg missense+splice_region GPR114 1 81394 1.22859E-5 40697 0 4.07677E-6
16-57609378-C-A p.Ser505Ser synonymous GPR114 1 82616 1.21042E-5 41308 0 NA
16-57609383-G-A p.Arg507Gln missense GPR114 1 82580 1.21095E-5 41290 0 3.18654E-5
16-57609392-C-T p.Ser510Leu missense GPR114 24 82634 2.90437E-4 41317 0 4.77829E-4
16-57609392-C-G p.Ser510* stop_gained GPR114 3 82636 3.63038E-5 41318 0 3.97722E-6
16-57609400-G-A p.Glu513Lys missense GPR114 1 82658 1.2098E-5 41329 0 NA
16-57609408-G-A p.Lys515Lys synonymous GPR114 7 82676 8.46679E-5 41338 0 1.59307E-4
16-57609428-G-C p.Ser522Thr missense GPR114 26 82508 3.15121E-4 41254 0 7.32624E-4
16-57609431-C-T p.Ser523Phe missense GPR114 1 82468 1.21259E-5 41234 0 NA
16-57609445-C-A p.Gln528Lys missense GPR114 1 82286 1.21527E-5 41143 0 3.98048E-6
16-57609550-A-G n.1655A>G splice_region GPR114 1 70536 1.41772E-5 35268 0 NA
16-57624516-G-A n.278-8G>A splice_region GPR114 3038 52248 0.0581458 26124 102 0.0692282
16-57624522-A-C n.278-2A>C splice_acceptor GPR114 1 52384 1.90898E-5 26192 0 NA
16-57624681-C-T n.435C>T splice_region GPR114 3 52340 5.73175E-5 26170 0 9.62596E-5
16-57624682-G-A n.436G>A splice_region GPR114 6 52332 1.14653E-4 26166 0 9.55597E-5
16-57624688-T-A n.436+6T>A splice_region GPR114 1 52310 1.91168E-5 26155 0 4.22934E-5
16-57625525-G-A n.437-1G>A splice_acceptor GPR114 1 51956 1.92471E-5 25978 0 2.61142E-4
16-57625527-G-A n.438G>A splice_region GPR114 1 51906 1.92656E-5 25953 0 NA