Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
8-39442063-G-T c.-79G>T 5_prime_UTR_premature_start_codon_gain ADAM18 9 77700 1.1583E-4 38850 0 3.18796E-5
8-39442078-C-T c.-64C>T 5_prime_UTR_premature_start_codon_gain ADAM18 1 79888 1.25175E-5 39944 0 3.18674E-5
8-39442089-C-T c.-53C>T 5_prime_UTR_premature_start_codon_gain ADAM18 4 81308 4.91957E-5 40654 0 NA
8-39442099-C-T c.-43C>T 5_prime_UTR_premature_start_codon_gain ADAM18 1 81910 1.22085E-5 40955 0 4.84747E-5
8-39442105-C-G c.-37C>G 5_prime_UTR_premature_start_codon_gain ADAM18 229 82150 0.00278758 41075 5 0.00554211
8-39442156-C-T c.-1382C>T 5_prime_UTR_premature_start_codon_gain ADAM18 10 83000 1.20482E-4 41500 0 4.95188E-5
8-39442160-C-T p.Leu7Phe missense ADAM18 41 83050 4.93678E-4 41525 0 4.58485E-4
8-39442165-C-T p.Leu8Leu synonymous ADAM18 1 83090 1.20351E-5 41545 0 4.95156E-5
8-39442183-G-A p.Leu14Leu synonymous ADAM18 253 83066 0.00304577 41533 3 0.00722884
8-39442190-C-T p.His17Tyr missense ADAM18 1 83054 1.20404E-5 41527 0 0.00125
8-39442192-C-T c.-1346C>T 5_prime_UTR_premature_start_codon_gain ADAM18 20 83030 2.40877E-4 41515 1 4.14092E-4
8-39442193-G-C p.Glu18Gln missense ADAM18 9 83016 1.08413E-4 41508 0 1.27421E-4
8-39442197-G-A c.55+1G>A splice_donor ADAM18 21 83028 2.52927E-4 41514 0 3.18471E-4
8-39442201-G-A c.55+5G>A splice_region ADAM18 1 82998 1.20485E-5 41499 0 NA
8-39442789-C-G c.56-6C>G splice_region ADAM18 2 83056 2.40801E-5 41528 0 2.41887E-5
8-39442793-A-G c.56-2A>G splice_acceptor ADAM18 4 83094 4.81383E-5 41547 0 1.82967E-4
8-39442796-T-A p.Gly19Gly splice_region+synonymous ADAM18 3 83124 3.60907E-5 41562 1 0.00100705
8-39442804-G-T p.Gly22Val missense ADAM18 1 83144 1.20273E-5 41572 0 8.28981E-6
8-39442817-T-C p.His26His synonymous ADAM18 1 83198 1.20195E-5 41599 0 NA
8-39442821-A-C p.Thr28Pro missense ADAM18 4 83198 4.80781E-5 41599 0 3.18451E-5
8-39442827-C-T p.Pro30Ser missense ADAM18 69 83190 8.29427E-4 41595 0 0.00125
8-39442830-C-T p.Arg31Trp missense ADAM18 5 83192 6.01019E-5 41596 0 0.005625
8-39442831-G-T p.Arg31Leu missense ADAM18 1 83196 1.20198E-5 41598 0 NA
8-39442837-T-C p.Ile33Thr missense ADAM18 1 83202 1.20189E-5 41601 0 NA
8-39442841-G-A p.Lys34Lys synonymous ADAM18 4 83192 4.80815E-5 41596 0 1.19537E-5
8-39442851-A-G p.Ser38Gly missense ADAM18 3 83184 3.60646E-5 41592 0 NA
8-39442865-G-C p.Glu42Asp missense ADAM18 1 83140 1.20279E-5 41570 0 8.35799E-6
8-39442871-G-A p.Lys44Lys splice_region+synonymous ADAM18 1 83122 1.20305E-5 41561 0 NA
8-39442872-G-T c.132+1G>T splice_donor ADAM18 4 83106 4.81313E-5 41553 0 2.52951E-5
8-39442878-G-C c.132+7G>C splice_region ADAM18 1 83066 1.20386E-5 41533 0 3.41309E-5
8-39463266-T-G p.Val51Gly missense ADAM18 88 1170 0.0752137 585 4 0.135645
8-39463823-T-C c.133-3T>C splice_region ADAM18 30355 79102 0.383745 39551 6157 0.395159
8-39463828-G-T p.Met45Ile missense+splice_region ADAM18 1 80852 1.23683E-5 40426 0 NA
8-39463846-T-G p.Ter63Glyext*? stop_lost ADAM18 1 81420 1.2282E-5 40710 0 0.001875
8-39463847-G-A p.Asp52Asn missense ADAM18 1 81420 1.2282E-5 40710 0 9.00033E-6
8-39463855-A-C p.Gln54His missense ADAM18 2 81538 2.45284E-5 40769 0 8.93033E-6
8-39463873-C-T c.-1217C>T 5_prime_UTR_premature_start_codon_gain ADAM18 12 81112 1.47944E-4 40556 0 3.5081E-4
8-39463874-G-T p.Gly61* stop_gained ADAM18 6 81130 7.39554E-5 40565 0 7.43626E-5
8-39463874-G-A p.Gly61Arg missense ADAM18 6 81130 7.39554E-5 40565 0 7.43626E-5
8-39463886-GAT-G c.188+6_188+7delAT splice_region ADAM18 4 80980 4.93949E-5 40490 0 6.38081E-5
8-39466554-T-G c.189-7T>G splice_region ADAM18 2 81790 2.44529E-5 40895 0 3.18573E-5
8-39466564-A-G p.Ser64Ser synonymous ADAM18 1 82042 1.21889E-5 41021 0 1.95038E-5
8-39466571-C-T p.Pro67Ser missense ADAM18 1 82138 1.21746E-5 41069 0 NA
8-39466572-C-T p.Pro67Leu missense ADAM18 1 82144 1.21737E-5 41072 0 1.32748E-5
8-39466573-C-G p.Pro67Pro synonymous ADAM18 1 82180 1.21684E-5 41090 0 3.50855E-4
8-39466580-T-G p.Phe70Val missense ADAM18 1 82198 1.21657E-5 41099 0 4.26341E-6
8-39466588-T-C p.Val72Val synonymous ADAM18 1 82240 1.21595E-5 41120 0 NA
8-39466591-T-C p.Tyr73Tyr synonymous ADAM18 33 82242 4.01255E-4 41121 0 0.0016442
8-39466593-C-A p.Thr74Lys missense ADAM18 1 82208 1.21643E-5 41104 0 NA
8-39466600-T-C p.Asn76Asn synonymous ADAM18 1 82192 1.21666E-5 41096 0 NA
8-39466611-C-A p.Ser80Tyr missense ADAM18 1 82124 1.21767E-5 41062 0 3.19081E-5
8-39466623-T-C p.Val84Ala missense ADAM18 2 81976 2.43974E-5 40988 0 4.21439E-6
8-39466636-T-C p.Phe88Phe synonymous ADAM18 1 81636 1.22495E-5 40818 0 NA
8-39466996-T-A c.268-8T>A splice_region ADAM18 8 82406 9.70803E-5 41203 0 7.19011E-5
8-39467009-T-C c.-1124T>C 5_prime_UTR_premature_start_codon_gain ADAM18 1 82504 1.21206E-5 41252 0 NA
8-39467012-C-T p.Cys92Cys synonymous ADAM18 1 82516 1.21189E-5 41258 0 2.49493E-5
8-39467016-T-C p.Tyr94His missense ADAM18 1 82546 1.21145E-5 41273 0 NA
8-39467017-A-G p.Tyr94Cys missense ADAM18 2 82558 2.42254E-5 41279 0 1.66176E-5
8-39467018-C-T p.Tyr94Tyr synonymous ADAM18 1 82546 1.21145E-5 41273 0 9.56145E-5
8-39467033-C-T c.-1100C>T 5_prime_UTR_premature_start_codon_gain ADAM18 5 82578 6.05488E-5 41289 0 6.37633E-5
8-39467034-G-A p.Glu100Lys missense ADAM18 6 82584 7.26533E-5 41292 0 9.56633E-5
8-39467034-G-C p.Glu100Gln missense ADAM18 1 82584 1.21089E-5 41292 0 3.98791E-6
8-39467043-A-G p.Asn103Asp missense ADAM18 2 82596 2.42142E-5 41298 0 3.18552E-5
8-39467052-G-A p.Val106Met missense ADAM18 2 82592 2.42154E-5 41296 0 0.00100705
8-39467055-A-G p.Thr107Ala missense ADAM18 1 82568 1.21112E-5 41284 0 NA
8-39467062-G-T p.Ser109Ile missense ADAM18 1 82550 1.21139E-5 41275 0 NA
8-39467068-GT-G p.Ser112fs frameshift ADAM18 1 82512 1.21194E-5 41256 0 NA
8-39468048-G-A p.Arg115Arg splice_region+synonymous ADAM18 2 81600 2.45098E-5 40800 0 3.18654E-5
8-39468070-A-C p.Ile123Leu missense ADAM18 269 82154 0.00327434 41077 0 0.0126135
8-39468071-T-C p.Ile123Thr missense ADAM18 1 82186 1.21675E-5 41093 0 4.06752E-6
8-39468073-A-T p.Ser124Cys missense ADAM18 4 82198 4.8663E-5 41099 0 3.18431E-5
8-39468078-T-C p.Tyr125Tyr synonymous ADAM18 1 82250 1.21581E-5 41125 0 2.52092E-5
8-39468085-G-A p.Glu128Lys missense ADAM18 6 82302 7.29022E-5 41151 0 5.04541E-4
8-39468088-C-T p.Pro129Ser missense ADAM18 2 82302 2.43007E-5 41151 0 NA
8-39468107-G-C p.Arg135Thr missense ADAM18 1 82318 1.2148E-5 41159 0 NA
8-39468112-G-T p.Glu137* stop_gained ADAM18 1 82294 1.21516E-5 41147 0 NA
8-39468112-G-A p.Glu137Lys missense ADAM18 1 82294 1.21516E-5 41147 0 5.84239E-5
8-39468121-A-G p.Ile140Val missense ADAM18 3 82294 3.64547E-5 41147 0 0.00125156
8-39468128-A-T p.Gln142Leu missense ADAM18 1610 82246 0.0195754 41123 52 0.0334608
8-39468141-T-C p.Asn146Asn synonymous ADAM18 2 82216 2.43262E-5 41108 0 9.56023E-5
8-39468149-A-T p.Asn149Ile missense ADAM18 1 82190 1.21669E-5 41095 0 3.99834E-6
8-39468151-G-T p.Val150Leu missense ADAM18 4 82184 4.86713E-5 41092 0 4.98256E-5
8-39468154-T-A p.Ser151Thr missense ADAM18 1 82178 1.21687E-5 41089 0 8.30234E-6
8-39468155-C-A p.Ser151Tyr missense ADAM18 55 82184 6.6923E-4 41092 0 4.7853E-4
8-39468166-G-A p.Val155Ile missense ADAM18 2 82156 2.43439E-5 41078 0 1.99957E-5
8-39468167-T-C p.Val155Ala missense ADAM18 10 82150 1.21729E-4 41075 0 1.19941E-5
8-39468170-A-G p.Asn156Ser missense ADAM18 1 82170 1.21699E-5 41085 0 4.79639E-5
8-39468176-G-A p.Ser158Asn missense ADAM18 1 82126 1.21764E-5 41063 0 1.19929E-5
8-39468183-T-C p.Ile160Ile synonymous ADAM18 3 82124 3.65301E-5 41062 0 8.29022E-6
8-39468186-G-A p.Trp161* stop_gained ADAM18 2 82104 2.43593E-5 41052 0 NA
8-39468196-C-T p.Gln165* stop_gained ADAM18 3 82094 3.65435E-5 41047 0 3.18979E-5
8-39468199-C-T p.Pro166Ser missense ADAM18 7 82076 8.52868E-5 41038 0 3.99942E-5
8-39468204-C-G p.Tyr167* stop_gained ADAM18 20 82062 2.43718E-4 41031 0 0.00161944
8-39468209-T-G p.Val169Gly missense ADAM18 1 82070 1.21847E-5 41035 0 8.00442E-6
8-39468225-G-A p.Gln174Gln splice_region+synonymous ADAM18 2 81968 2.43998E-5 40984 0 NA
8-39468231-T-G c.522+6T>G splice_region ADAM18 13 81916 1.58699E-4 40958 0 1.16848E-4
8-39468238-A-G p.Ile179Val missense ADAM18 1 81800 1.22249E-5 40900 0 NA
8-39468242-T-C p.Leu180Pro missense ADAM18 1 81728 1.22357E-5 40864 0 NA
8-39468246-G-A p.Met181Ile missense ADAM18 1 81680 1.22429E-5 40840 0 6.95268E-5
8-39468250-T-C p.Ter183Argext*? stop_lost ADAM18 3 81570 3.67782E-5 40785 0 8.59742E-6
8-39468263-C-T c.*405C>T splice_region ADAM18 1 81074 1.23344E-5 40537 0 NA
8-39469093-G-A c.*841G>A splice_region ADAM18 3 24400 1.22951E-4 12200 0 1.9151E-4
8-39486885-T-C c.523-8T>C splice_region ADAM18 1 82526 1.21174E-5 41263 0 1.70654E-5
8-39486891-A-G c.523-2A>G splice_acceptor ADAM18 1 82620 1.21036E-5 41310 0 8.48018E-6
8-39486894-T-TA p.Asn177fs frameshift ADAM18 1 82668 1.20966E-5 41334 0 1.60785E-4
8-39486894-T-A p.Ter116Lysext*? stop_lost ADAM18 2 82668 2.41932E-5 41334 0 3.38495E-5
8-39486918-C-A p.Pro183His missense ADAM18 1 82914 1.20607E-5 41457 0 4.29428E-6
8-39486922-A-G p.Gln184Gln synonymous ADAM18 7 82922 8.44167E-5 41461 0 0.0020141
8-39486932-A-G p.Ile188Val missense ADAM18 21 82892 2.53342E-4 41446 0 0.00125313
8-39486959-G-A c.588+1G>A splice_donor ADAM18 1 82822 1.20741E-5 41411 0 NA
8-39494775-T-C c.589-8T>C splice_region ADAM18 1 81306 1.22992E-5 40653 0 NA
8-39494776-T-A c.589-7T>A splice_region ADAM18 1 81452 1.22772E-5 40726 0 8.46196E-6
8-39494782-G-A c.589-1G>A splice_acceptor ADAM18 77 81658 9.42957E-4 40829 1 0.003125
8-39494793-T-C p.Met200Thr missense ADAM18 2 82346 2.42878E-5 41173 0 8.31781E-6
8-39494795-G-A p.Gly201Arg missense ADAM18 2 82340 2.42895E-5 41170 0 4.02246E-6
8-39494805-T-C p.Met204Thr missense ADAM18 1 82446 1.21292E-5 41223 0 3.23583E-5
8-39494811-C-G p.Ala206Gly missense ADAM18 2 82440 2.42601E-5 41220 0 3.23646E-5
8-39494813-G-A p.Val207Ile missense ADAM18 2 82476 2.42495E-5 41238 0 NA
8-39494816-A-G p.Thr208Ala missense ADAM18 2 82452 2.42565E-5 41226 0 NA
8-39494828-G-T p.Val212Phe missense ADAM18 1317 82374 0.0159881 41187 58 0.0306419
8-39494831-C-T p.Gln213* stop_gained ADAM18 1 82412 1.21342E-5 41206 0 3.23939E-5
8-39494834-G-A p.Val214Ile missense ADAM18 1 82412 1.21342E-5 41206 0 8.29573E-6
8-39494843-C-A p.Leu217Ile missense ADAM18 2 82436 2.42612E-5 41218 0 NA
8-39494843-C-T p.Leu217Phe missense ADAM18 1 82436 1.21306E-5 41218 0 NA
8-39494847-T-C p.Val218Ala missense ADAM18 1 82418 1.21333E-5 41209 0 NA
8-39494848-C-T p.Val218Val synonymous ADAM18 1 82390 1.21374E-5 41195 0 3.2256E-5
8-39495052-T-G c.661-4T>G splice_region ADAM18 1 82776 1.20808E-5 41388 0 3.18918E-5
8-39495058-G-A p.Met221Ile missense+splice_region ADAM18 55 82890 6.6353E-4 41445 0 4.2702E-4
8-39495062-A-T p.Thr223Ser missense ADAM18 51 82922 6.15036E-4 41461 2 0.0011797
8-39495062-A-G p.Thr223Ala missense ADAM18 1 82922 1.20595E-5 41461 0 NA
8-39495064-C-A p.Thr223Thr synonymous ADAM18 1 82924 1.20592E-5 41462 0 1.6216E-5
8-39495074-T-C c.-896T>C 5_prime_UTR_premature_start_codon_gain ADAM18 1617 82944 0.0194951 41472 85 0.0384444
8-39495078-C-T p.Thr228Ile missense ADAM18 2 83010 2.40935E-5 41505 0 NA
8-39495084-T-C p.Ile230Thr missense ADAM18 2 83032 2.40871E-5 41516 0 5.03525E-4
8-39495101-T-C c.-869T>C 5_prime_UTR_premature_start_codon_gain ADAM18 1 83058 1.20398E-5 41529 0 3.18634E-5
8-39495103-G-A c.-867G>A 5_prime_UTR_premature_start_codon_gain ADAM18 1 83066 1.20386E-5 41533 0 NA
8-39495114-A-C p.Glu240Ala missense ADAM18 1 83066 1.20386E-5 41533 0 8.35031E-6
8-39495123-T-C p.Ile243Thr missense ADAM18 4 83062 4.81568E-5 41531 0 2.39355E-5
8-39495133-T-A p.Ser246Arg missense ADAM18 3 83062 3.61176E-5 41531 0 3.32668E-5
8-39495136-G-A p.Gly247Gly synonymous ADAM18 1 83062 1.20392E-5 41531 0 1.66251E-5
8-39495153-T-G p.Leu253* stop_gained ADAM18 1 83042 1.20421E-5 41521 0 NA
8-39495167-G-T p.Ala258Ser missense ADAM18 1 83010 1.20467E-5 41505 0 8.296E-6
8-39495170-T-C p.Trp259Arg missense ADAM18 1 83032 1.20435E-5 41516 0 NA
8-39495176-C-T p.Arg261Trp missense ADAM18 4 82996 4.81951E-5 41498 0 1.07871E-4
8-39495177-G-T p.Arg261Leu missense ADAM18 1 82994 1.20491E-5 41497 0 NA
8-39495177-G-A p.Arg261Gln missense ADAM18 2 82994 2.40981E-5 41497 0 3.3195E-5
8-39495183-A-G p.Tyr263Cys missense ADAM18 3 82978 3.61542E-5 41489 0 3.18817E-5
8-39495190-C-T p.Ile265Ile synonymous ADAM18 1 82940 1.20569E-5 41470 0 NA
8-39495194-C-T p.Arg267Trp missense ADAM18 3 82906 3.61856E-5 41453 0 0.00125
8-39495203-G-A p.Asp270Asn missense ADAM18 1 82844 1.20709E-5 41422 0 NA
8-39495212-T-C p.Tyr273His missense ADAM18 2 82726 2.41762E-5 41363 0 3.18959E-5
8-39495215-T-A p.Leu274Ile missense ADAM18 1 82612 1.21048E-5 41306 0 8.44381E-6
8-39495977-A-C c.828-7A>C splice_region ADAM18 1 80454 1.24295E-5 40227 0 NA
8-39495980-G-A c.828-4G>A splice_region ADAM18 1 80492 1.24236E-5 40246 0 1.85587E-5
8-39495990-G-A p.Arg278Arg synonymous ADAM18 1 80806 1.23753E-5 40403 0 4.40478E-6
8-39495997-C-T p.Pro281Ser missense ADAM18 1 80774 1.23802E-5 40387 0 3.92986E-5
8-39496006-G-A p.Val284Met missense ADAM18 2 80878 2.47286E-5 40439 0 NA
8-39496021-C-T p.Pro289Ser missense ADAM18 1 80988 1.23475E-5 40494 0 NA
8-39496021-C-G p.Pro289Ala missense ADAM18 3 80988 3.70425E-5 40494 0 3.19836E-5
8-39496024-G-A p.Gly290Ser missense ADAM18 2 80998 2.4692E-5 40499 0 1.71854E-5
8-39496029-T-C p.Thr291Thr synonymous ADAM18 51404 79940 0.643032 39970 16794 0.640646
8-39496030-G-A p.Val292Ile missense ADAM18 1 80934 1.23557E-5 40467 0 7.50976E-5
8-39496038-T-C p.Asn294Asn synonymous ADAM18 1 81264 1.23056E-5 40632 0 2.10202E-5
8-39496046-A-G p.Tyr297Cys missense ADAM18 1 81238 1.23095E-5 40619 0 3.19448E-5
8-39496049-A-T p.Asp298Val missense ADAM18 2 81220 2.46245E-5 40610 0 1.67729E-5
8-39496053-A-G p.Ala299Ala synonymous ADAM18 1 81112 1.23286E-5 40556 0 3.36649E-5
8-39496054-G-A p.Gly300Ser missense ADAM18 1 81086 1.23326E-5 40543 0 NA
8-39502872-G-T p.Gly309Cys missense ADAM18 4 82968 4.82114E-5 41484 0 0.00100705
8-39502876-T-C p.Leu310Ser missense ADAM18 1 82970 1.20525E-5 41485 0 8.27157E-6
8-39502887-T-A p.Ser314Thr missense ADAM18 2 82978 2.41028E-5 41489 0 8.26583E-6
8-39502888-C-T p.Ser314Leu missense ADAM18 1 82976 1.20517E-5 41488 0 2.47975E-5
8-39502889-G-A p.Ser314Ser synonymous ADAM18 2 82982 2.41016E-5 41491 0 7.98002E-6
8-39502890-G-A p.Val315Ile missense ADAM18 12 82986 1.44603E-4 41493 0 9.09106E-5
8-39502893-A-G p.Ile316Val missense ADAM18 1 82978 1.20514E-5 41489 0 NA
8-39502898-A-T c.-624A>T 5_prime_UTR_premature_start_codon_gain ADAM18 2 82990 2.40993E-5 41495 0 1.07426E-4
8-39502907-G-A p.Leu320Leu synonymous ADAM18 1 83000 1.20482E-5 41500 0 NA
8-39502923-G-T p.Gly326* stop_gained ADAM18 5 82970 6.02627E-5 41485 0 3.18695E-5
8-39502934-T-C p.Tyr329Tyr synonymous ADAM18 9 82938 1.08515E-4 41469 0 6.25E-4
8-39502941-A-C p.Ile332Leu missense ADAM18 2 82912 2.4122E-5 41456 0 NA
8-39502953-TTCTG-T p.Cys337fs frameshift ADAM18 5 82824 6.0369E-5 41412 0 6.37064E-5
8-39502955-CT-C p.Cys337fs frameshift ADAM18 1 82812 1.20755E-5 41406 0 NA
8-39502958-TCT-ACA p.CysLeu337* stop_gained ADAM18 1 82778 1.20805E-5 41389 0 NA
8-39502963-G-C p.Arg339Thr missense ADAM18 2 82756 2.41674E-5 41378 0 NA
8-39502965-G-A p.Ala340Thr missense ADAM18 1 82728 1.20878E-5 41364 0 1.65607E-5
8-39502966-C-T p.Ala340Val missense ADAM18 2 82712 2.41803E-5 41356 0 NA
8-39502969-C-T p.Thr341Ile missense ADAM18 1 82692 1.20931E-5 41346 0 4.00147E-6
8-39502971-T-A p.Cys342Ser missense ADAM18 1 82690 1.20934E-5 41345 0 NA
8-39505860-T-G c.1047-3T>G splice_region ADAM18 1 82748 1.20849E-5 41374 0 NA
8-39505865-G-T p.Ser350Ile missense+splice_region ADAM18 1 82766 1.20823E-5 41383 0 NA
8-39505889-G-A p.Ser358Asn missense ADAM18 1 82896 1.20633E-5 41448 0 8.51042E-6
8-39505895-G-T p.Cys360Phe missense ADAM18 13 82888 1.56838E-4 41444 0 3.18735E-5
8-39505898-G-A p.Ser361Asn missense ADAM18 9 82906 1.08557E-4 41453 0 4.7792E-4
8-39505905-C-T p.His363His synonymous ADAM18 2 82958 2.41086E-5 41479 0 1.2438E-4
8-39505907-A-G p.Asp364Gly missense ADAM18 1 82974 1.2052E-5 41487 0 9.55779E-5
8-39505915-T-C p.Tyr367His missense ADAM18 1 82992 1.20494E-5 41496 0 3.59801E-5
8-39505929-A-T p.Lys371Asn missense ADAM18 9 82982 1.08457E-4 41491 0 4.77768E-4
8-39505933-G-A p.Glu373Lys missense ADAM18 1 82956 1.20546E-5 41478 0 NA
8-39505941-A-T p.Lys375Asn missense ADAM18 1 82976 1.20517E-5 41488 0 NA
8-39505945-C-A p.Leu377Ile missense ADAM18 2 82968 2.41057E-5 41484 0 NA
8-39505946-T-G p.Leu377Arg missense ADAM18 1 82964 1.20534E-5 41482 0 NA
8-39505970-C-A p.Pro385Gln missense ADAM18 1 82952 1.20552E-5 41476 0 NA
8-39505994-G-A p.Cys393Tyr missense ADAM18 1 82984 1.20505E-5 41492 0 NA
8-39506015-C-A p.Ser400Tyr missense ADAM18 1 82948 1.20557E-5 41474 0 NA
8-39506015-C-T p.Ser400Phe missense ADAM18 1 82948 1.20557E-5 41474 0 3.18573E-5
8-39506018-A-G p.Asn401Ser missense ADAM18 10 82956 1.20546E-4 41478 0 2.2786E-4
8-39506026-T-C p.Cys404Arg missense ADAM18 1 82904 1.20621E-5 41452 0 8.52079E-6
8-39506031-CTG-C p.Cys406fs frameshift ADAM18 1 82828 1.20732E-5 41414 0 NA
8-39506035-G-C p.Gly407Arg missense ADAM18 2 82762 2.41657E-5 41381 0 6.39501E-5
8-39521309-T-A c.1231-5T>A splice_region ADAM18 4 82786 4.83173E-5 41393 0 3.69567E-5
8-39521310-T-C c.1231-4T>C splice_region ADAM18 67 82800 8.09179E-4 41400 0 0.00201381
8-39521322-A-G p.Gln413Gln synonymous ADAM18 2 82926 2.41179E-5 41463 0 3.19407E-5
8-39521323-T-C p.Phe414Leu missense ADAM18 1 82926 1.20589E-5 41463 0 1.66011E-5
8-39521325-T-G p.Phe414Leu missense ADAM18 1 82960 1.2054E-5 41480 0 4.01568E-6
8-39521330-A-T p.Lys416Met missense ADAM18 1 83014 1.20462E-5 41507 0 NA
8-39521350-T-C p.Cys423Arg missense ADAM18 1 83064 1.20389E-5 41532 0 1.99888E-5
8-39521351-G-GTAA p.Cys423_Lys424insAsn disruptive_inframe_insertion ADAM18 2 83064 2.40778E-5 41532 0 NA
8-39521352-T-A p.Cys423* stop_gained ADAM18 3 83062 3.61176E-5 41531 0 6.60099E-5
8-39521361-G-A p.Lys426Lys synonymous ADAM18 7 83050 8.42866E-5 41525 0 3.19101E-5
8-39521368-G-C p.Val429Leu missense ADAM18 5 83046 6.02076E-5 41523 0 2.00563E-5
8-39521375-G-A p.Cys431Tyr missense ADAM18 5 83014 6.02308E-5 41507 0 2.80568E-5
8-39521377-G-A p.Gly432Ser missense ADAM18 5 82998 6.02424E-5 41499 0 NA
8-39521378-G-A p.Gly432Asp missense ADAM18 2 83002 2.40958E-5 41501 0 NA
8-39521382-T-C p.Ser433Ser synonymous ADAM18 1 83008 1.2047E-5 41504 0 8.24837E-6
8-39521386-C-T p.Pro435Ser missense ADAM18 1 82994 1.20491E-5 41497 0 3.18979E-5
8-39521388-ATGT-A p.Cys437del conservative_inframe_deletion ADAM18 1 82972 1.20523E-5 41486 0 8.2481E-6
8-39521389-T-C p.Cys436Arg missense ADAM18 223 82966 0.00268785 41483 0 0.00205354
8-39521393-G-A p.Cys437Tyr missense ADAM18 5 82948 6.02787E-5 41474 0 NA
8-39521413-AGT-A c.1326+5_1326+6delGT splice_region ADAM18 8 82840 9.65717E-5 41420 0 9.5584E-5
8-39525509-C-T c.1327-8C>T splice_region ADAM18 1 83090 1.20351E-5 41545 0 8.25287E-6
8-39525510-C-A c.1327-7C>A splice_region ADAM18 2 83102 2.40668E-5 41551 0 NA
8-39525515-A-G c.1327-2A>G splice_acceptor ADAM18 4 83148 4.8107E-5 41574 0 1.64948E-5
8-39525516-G-C c.1327-1G>C splice_acceptor ADAM18 1 83154 1.20259E-5 41577 0 NA
8-39525545-A-G p.Lys452Arg missense ADAM18 8 83230 9.61192E-5 41615 0 5.03525E-4
8-39525546-G-A p.Lys452Lys synonymous ADAM18 1 83232 1.20146E-5 41616 0 8.24226E-6
8-39525564-T-C p.Cys458Cys synonymous ADAM18 6 83240 7.20807E-5 41620 0 4.12079E-5
8-39525580-T-C p.Cys464Arg missense ADAM18 2 83266 2.40194E-5 41633 0 3.1839E-5
8-39525580-T-G p.Cys464Gly missense ADAM18 1 83266 1.20097E-5 41633 0 1.19352E-5
8-39525584-A-G p.Asn465Ser missense ADAM18 2 83266 2.40194E-5 41633 0 3.1841E-5
8-39525593-C-T p.Ser468Phe missense ADAM18 2 83264 2.402E-5 41632 0 5.56939E-5
8-39525600-T-C c.-349T>C 5_prime_UTR_premature_start_codon_gain ADAM18 8 83254 9.60915E-5 41627 0 6.25E-4
8-39525620-C-G p.Ala477Gly missense ADAM18 1 83250 1.2012E-5 41625 0 NA
8-39525623-T-C p.Leu478Ser missense ADAM18 1 83240 1.20135E-5 41620 0 3.18431E-5
8-39525626-A-G p.Asn479Ser missense ADAM18 1 83244 1.20129E-5 41622 0 3.97814E-6
8-39525631-C-T p.Arg481Cys missense ADAM18 1 83242 1.20132E-5 41621 0 1.59122E-5
8-39525631-C-G p.Arg481Gly missense ADAM18 1 83242 1.20132E-5 41621 0 NA
8-39525632-G-A p.Arg481His missense ADAM18 41 83236 4.92575E-4 41618 0 0.00124228
8-39525635-T-A p.Leu482* stop_gained ADAM18 1 83246 1.20126E-5 41623 0 3.97795E-6
8-39525636-G-A c.-313G>A 5_prime_UTR_premature_start_codon_gain ADAM18 1 83250 1.2012E-5 41625 0 3.18532E-5
8-39525641-A-T p.Lys484Met missense ADAM18 1 83252 1.20117E-5 41626 0 NA
8-39525646-G-A p.Gly486Arg missense ADAM18 1 83250 1.2012E-5 41625 0 NA
8-39525652-G-T p.Ala488Ser missense ADAM18 1 83242 1.20132E-5 41621 0 NA
8-39525656-A-G p.Tyr489Cys missense ADAM18 1 83238 1.20137E-5 41619 0 2.47174E-5
8-39525662-A-G p.Tyr491Cys missense ADAM18 1 83230 1.20149E-5 41615 0 8.23927E-6
8-39525666-C-T c.-283C>T 5_prime_UTR_premature_start_codon_gain ADAM18 77 83224 9.25214E-4 41612 1 0.00178435
8-39525667-G-A p.Gly493Arg missense ADAM18 2 83224 2.40315E-5 41612 0 3.29565E-5
8-39525668-G-A p.Gly493Glu missense ADAM18 1 83222 1.20161E-5 41611 0 NA
8-39525676-C-G p.Gln496Glu missense ADAM18 2 83194 2.40402E-5 41597 0 3.29571E-5
8-39525680-C-A p.Thr497Asn missense ADAM18 6 83180 7.21327E-5 41590 0 0.0020141
8-39525681-T-C p.Thr497Thr synonymous ADAM18 426 83172 0.00512192 41586 5 0.00578387
8-39525683-C-T p.Thr498Ile missense ADAM18 4 83164 4.80977E-5 41582 0 3.58132E-5
8-39525684-T-C p.Thr498Thr synonymous ADAM18 2 83162 2.40494E-5 41581 0 2.3876E-5
8-39525690-C-A p.Asn500Lys missense ADAM18 27 83134 3.24777E-4 41567 2 5.03525E-4
8-39525690-C-T p.Asn500Asn synonymous ADAM18 1 83138 1.20282E-5 41569 0 2.47194E-5
8-39525693-G-C p.Gln501His missense ADAM18 1 83124 1.20302E-5 41562 0 NA
8-39525716-G-GAAAAATAAAA c.1525+1_1525+2insAAAAATAAAA splice_donor ADAM18 2 82904 2.41243E-5 41452 0 3.98413E-6
8-39525716-G-GAAAAATAAAATTAAGTTCTGTAAATCA c.1525+1_1525+2insAAAAATAAAATTAAGTTCTGTAAATCA splice_donor ADAM18 2 82904 2.41243E-5 41452 0 NA
8-39525716-G-GAAAAATAAAAT c.1525+1_1525+2insAAAAATAAAAT splice_donor ADAM18 1 82906 1.20619E-5 41453 0 3.98413E-6
8-39534953-C-T p.Ala510Val missense ADAM18 1 82846 1.20706E-5 41423 0 NA
8-39534956-A-C p.Gln511Pro missense ADAM18 1 82868 1.20674E-5 41434 0 NA
8-39534958-G-A p.Gly512Ser missense ADAM18 2 82864 2.41359E-5 41432 0 8.36386E-6
8-39534972-C-T c.-211C>T 5_prime_UTR_premature_start_codon_gain ADAM18 1 82924 1.20592E-5 41462 0 NA
8-39534979-A-G p.Lys519Glu missense ADAM18 1 82906 1.20619E-5 41453 0 NA
8-39534992-C-G p.Ser523Cys missense ADAM18 1 82918 1.20601E-5 41459 0 8.29889E-6
8-39534994-C-T c.-189C>T 5_prime_UTR_premature_start_codon_gain ADAM18 1 82936 1.20575E-5 41468 0 1.20839E-5
8-39534997-C-T p.His525Tyr missense ADAM18 3 82944 3.6169E-5 41472 0 2.01454E-5
8-39534998-A-C p.His525Pro missense ADAM18 3 82936 3.61725E-5 41468 0 8.30137E-5
8-39535006-T-TC p.Glu529fs frameshift ADAM18 1 82916 1.20604E-5 41458 0 NA
8-39535012-A-G p.Asn530Asp missense ADAM18 1 82896 1.20633E-5 41448 0 NA
8-39535029-T-C p.Asn535Asn synonymous ADAM18 1 82812 1.20755E-5 41406 0 NA
8-39535037-C-T p.Pro538Leu missense ADAM18 1 82780 1.20802E-5 41390 0 NA
8-39535037-C-G p.Pro538Arg missense ADAM18 1 82780 1.20802E-5 41390 0 4.1233E-6
8-39535042-C-T p.Pro540Ser missense ADAM18 3 82732 3.62617E-5 41366 0 2.54138E-5
8-39535048-G-A p.Glu542Lys missense ADAM18 2 82668 2.41932E-5 41334 0 8.56707E-6
8-39535051-C-T p.Arg543Trp missense ADAM18 35 82622 4.23616E-4 41311 0 3.19643E-4
8-39535052-G-A p.Arg543Gln missense ADAM18 34 82602 4.11612E-4 41301 0 6.25E-4
8-39535055-A-G p.Lys544Arg missense+splice_region ADAM18 9 82588 1.08975E-4 41294 0 1.28393E-5
8-39535057-T-C c.1631+2T>C splice_donor ADAM18 1 82568 1.21112E-5 41284 0 NA
8-39535059-C-T c.1631+4C>T splice_region ADAM18 1 82538 1.21156E-5 41269 0 5.30992E-5
8-39535062-A-G c.1631+7A>G splice_region ADAM18 2 82494 2.42442E-5 41247 0 3.6203E-5
8-39535063-T-C c.1631+8T>C splice_region ADAM18 1 82480 1.21242E-5 41240 0 NA
8-39537553-C-T c.1632-3C>T splice_region ADAM18 1 82758 1.20834E-5 41379 0 NA
8-39537556-G-A p.Lys544Lys splice_region+synonymous ADAM18 2 82786 2.41587E-5 41393 0 NA
8-39537560-G-A p.Val546Ile missense ADAM18 2 82824 2.41476E-5 41412 0 NA
8-39537574-A-G p.Lys550Lys synonymous ADAM18 4 82906 4.82474E-5 41453 0 NA
8-39537576-T-C p.Leu551Ser missense ADAM18 3 82914 3.61821E-5 41457 0 6.61912E-5
8-39537578-GC-TT p.Ala552Phe missense ADAM18 2 82940 2.41138E-5 41470 0 NA
8-39537583-T-C p.Cys553Cys synonymous ADAM18 2 82950 2.41109E-5 41475 0 6.37146E-5
8-39537593-C-T p.His557Tyr missense ADAM18 28 82994 3.37374E-4 41497 0 0.00375
8-39537616-C-T c.-67C>T 5_prime_UTR_premature_start_codon_gain ADAM18 3080 82906 0.0371505 41453 225 0.0666986
8-39537616-C-G p.Asp564Glu missense ADAM18 1 82952 1.20552E-5 41476 0 8.2687E-6
8-39537617-G-A p.Ala565Thr missense ADAM18 30 82954 3.61646E-4 41477 0 0.00151057
8-39537620-C-T p.Gln566* stop_gained ADAM18 5 82952 6.02758E-5 41476 0 6.37024E-5
8-39537626-A-G p.Thr568Ala missense ADAM18 658 82912 0.00793612 41456 6 0.010142
8-39537637-A-G p.Ser571Ser synonymous ADAM18 1 82914 1.20607E-5 41457 0 3.18451E-5
8-39537638-T-C p.Tyr572His missense ADAM18 1 82914 1.20607E-5 41457 0 7.972E-6
8-39537643-T-G p.Ile573Met missense ADAM18 1 82890 1.20642E-5 41445 0 1.99306E-5
8-39537645-A-G p.Gln574Arg missense ADAM18 1 82888 1.20645E-5 41444 0 1.19593E-5
8-39537651-A-C p.His576Pro missense ADAM18 1 82844 1.20709E-5 41422 0 3.18492E-5
8-39537658-T-C p.Cys578Cys synonymous ADAM18 1 82844 1.20709E-5 41422 0 NA
8-39537661-A-G p.Val579Val synonymous ADAM18 1 82832 1.20726E-5 41416 0 7.97493E-6
8-39537665-ATAGCCACTGGTT-A p.Ile581_Ser585delinsThr disruptive_inframe_deletion ADAM18 1 82824 1.20738E-5 41412 0 3.98839E-6
8-39537665-A-G p.Ile581Val missense ADAM18 1 82824 1.20738E-5 41412 0 1.27372E-4
8-39537681-C-G p.Ser586Cys missense ADAM18 2 82800 2.41546E-5 41400 0 NA
8-39537704-A-G p.Asn594Asp missense ADAM18 1 82790 1.20788E-5 41395 0 3.33985E-5
8-39537711-A-G p.Tyr596Cys missense ADAM18 2 82796 2.41558E-5 41398 0 1.67887E-5
8-39537719-G-A p.Asp599Asn missense ADAM18 1 82770 1.20817E-5 41385 0 NA
8-39537728-A-G p.Met602Val missense ADAM18 2 82748 2.41698E-5 41374 0 1.60754E-5
8-39537729-T-C p.Met602Thr missense ADAM18 2 82748 2.41698E-5 41374 0 3.18471E-5
8-39537730-G-A p.Met602Ile missense ADAM18 11 82740 1.32947E-4 41370 0 4.4586E-4
8-39537739-A-G p.Pro605Pro synonymous ADAM18 3 82726 3.62643E-5 41363 0 NA
8-39537745-G-T p.Met607Ile missense+splice_region ADAM18 3 82664 3.62915E-5 41332 0 3.18634E-5
8-39537750-C-A c.1821+5C>A splice_region ADAM18 1 82634 1.21016E-5 41317 0 3.18512E-5
8-39550119-T-C p.Tyr608His missense+splice_region ADAM18 1 82478 1.21244E-5 41239 0 4.14583E-6
8-39550138-G-A p.Cys614Tyr missense ADAM18 1 82754 1.2084E-5 41377 0 0.001024
8-39550139-C-A p.Cys614* stop_gained ADAM18 1 82752 1.20843E-5 41376 0 NA
8-39550160-A-G p.Gly621Gly synonymous ADAM18 1 82886 1.20648E-5 41443 0 6.857E-5
8-39550178-C-G p.Thr627Thr synonymous ADAM18 2 82870 2.41342E-5 41435 0 6.40082E-5
8-39550178-C-A p.Thr627Thr synonymous ADAM18 15 82868 1.81011E-4 41434 0 2.56033E-4
8-39550180-C-T p.Thr628Ile missense ADAM18 3 82862 3.62048E-5 41431 0 6.25E-4
8-39550181-A-C p.Thr628Thr synonymous ADAM18 1 82878 1.20659E-5 41439 0 8.32945E-6
8-39564306-C-G c.1903-3C>G splice_region ADAM18 1 82400 1.21359E-5 41200 0 NA
8-39564310-T-A p.Ile635Lys missense+splice_region ADAM18 102 82524 0.001236 41262 0 0.00938673
8-39564315-A-T p.Asn637Tyr missense ADAM18 1 82590 1.2108E-5 41295 0 6.36943E-5
8-39564321-T-G p.Phe639Val missense ADAM18 1 82706 1.2091E-5 41353 0 1.68169E-5
8-39564322-T-C p.Phe639Ser missense ADAM18 2 82712 2.41803E-5 41356 0 7.9855E-6
8-39564331-G-C p.Cys642Ser missense ADAM18 5 82772 6.04069E-5 41386 0 2.23029E-4
8-39564335-A-G p.Gln643Gln synonymous ADAM18 1 82804 1.20767E-5 41402 0 9.55536E-5
8-39564340-T-G p.Phe645Cys missense ADAM18 2 82862 2.41365E-5 41431 0 8.31324E-6
8-39564343-C-G p.Pro646Arg missense ADAM18 3 82872 3.62004E-5 41436 0 6.36943E-5
8-39564350-T-C p.His648His synonymous ADAM18 3 82944 3.6169E-5 41472 0 6.37105E-5
8-39564362-T-C p.Asp652Asp synonymous ADAM18 5 82976 6.02584E-5 41488 0 1.2738E-4
8-39564364-G-A p.Cys653Tyr missense ADAM18 1 82984 1.20505E-5 41492 0 NA
8-39564367-A-G p.Lys654Arg missense ADAM18 1312 82928 0.015821 41464 53 0.0304913
8-39564368-A-C p.Lys654Asn missense ADAM18 1 82978 1.20514E-5 41489 0 NA
8-39564374-GT-G p.Phe657fs frameshift ADAM18 2 82956 2.41092E-5 41478 0 5.03525E-4
8-39564382-C-T p.Ser659Phe missense ADAM18 4 82912 4.82439E-5 41456 0 2.49112E-5
8-39564384-C-T p.Pro660Ser missense ADAM18 1 82890 1.20642E-5 41445 0 8.30744E-6
8-39564388-G-C p.Gly661Ala missense ADAM18 2 82894 2.41272E-5 41447 0 1.66295E-5
8-39564388-G-T p.Gly661Val missense ADAM18 1 82894 1.20636E-5 41447 0 1.66295E-5
8-39564392-T-C p.Gly662Gly synonymous ADAM18 2 82816 2.41499E-5 41408 0 9.21209E-5
8-39564413-T-C p.Phe669Phe synonymous ADAM18 1 82390 1.21374E-5 41195 0 3.18552E-5
8-39564422-T-G p.Ser672Ser splice_region+synonymous ADAM18 1 82176 1.2169E-5 41088 0 NA
8-39564423-G-A p.Gly673Ser missense+splice_region ADAM18 1 82148 1.21732E-5 41074 0 NA
8-39564424-G-T c.2017+1G>T splice_donor ADAM18 3 82122 3.6531E-5 41061 0 3.57709E-4
8-39581279-C-T p.Thr677Ile missense ADAM18 44 80558 5.4619E-4 40279 0 0.00252016
8-39581287-G-A p.Gly680Ser missense ADAM18 2 80930 2.47127E-5 40465 0 NA
8-39581292-C-T p.Tyr681Tyr synonymous ADAM18 1 81656 1.22465E-5 40828 0 8.35771E-6
8-39581304-G-A p.Trp685* stop_gained ADAM18 5 82054 6.09355E-5 41027 0 9.61046E-5
8-39581310-C-T p.Asn687Asn synonymous ADAM18 1 82172 1.21696E-5 41086 0 NA
8-39581311-T-G p.Trp688Gly missense ADAM18 2 82158 2.43433E-5 41079 0 NA
8-39581320-C-T p.Leu691Leu synonymous ADAM18 1 82304 1.21501E-5 41152 0 NA
8-39581325-T-C p.Ser692Ser synonymous ADAM18 4 82340 4.85791E-5 41170 0 6.39836E-5
8-39581339-T-C p.Leu697Pro missense ADAM18 2 82334 2.42913E-5 41167 0 NA
8-39581342-C-T p.Pro698Leu missense ADAM18 1 82296 1.21513E-5 41148 0 3.20492E-5
8-39581343-GT-G p.Phe700fs frameshift ADAM18 32 82338 3.88642E-4 41169 0 2.22298E-4
8-39581343-G-A p.Pro698Pro synonymous ADAM18 17 82340 2.06461E-4 41170 0 0.00191946
8-39581350-A-G p.Ile701Val missense ADAM18 2 82366 2.42819E-5 41183 0 3.20082E-5
8-39581351-T-C p.Ile701Thr missense ADAM18 1 82358 1.21421E-5 41179 0 6.25E-4
8-39581368-A-T p.Ile707Phe missense ADAM18 1 82288 1.21524E-5 41144 0 6.25E-4
8-39581369-T-C p.Ile707Thr missense ADAM18 1 82260 1.21566E-5 41130 0 8.29242E-6
8-39581373-T-C p.Phe708Phe synonymous ADAM18 127 82138 0.00154618 41069 1 0.00322952
8-39581377-AGAAAT-A p.Glu712fs frameshift ADAM18 1 82140 1.21743E-5 41070 0 NA
8-39581378-G-T p.Arg710Ile missense ADAM18 154 82116 0.0018754 41058 0 0.00406582
8-39581382-T-C p.Asn711Asn synonymous ADAM18 1 82058 1.21865E-5 41029 0 8.3167E-6
8-39581394-A-G p.Lys715Lys synonymous ADAM18 3 81960 3.66032E-5 40980 0 9.58589E-5
8-39581395-T-A p.Ser716Thr missense ADAM18 966 81906 0.011794 40953 33 0.0252558
8-39581397-A-G p.Ser716Ser synonymous ADAM18 1 81932 1.22052E-5 40966 0 9.58528E-5
8-39581413-G-A p.Ala722Thr missense ADAM18 1 81546 1.2263E-5 40773 0 9.59325E-5
8-39581415-A-G p.Ala722Ala synonymous ADAM18 1 81514 1.22678E-5 40757 0 NA
8-39581417-A-G p.Glu723Gly missense ADAM18 843 81356 0.0103619 40678 26 0.022598
8-39581418-G-A p.Glu723Glu synonymous ADAM18 1 81406 1.22841E-5 40703 0 2.57989E-5
8-39581425-C-T p.Arg726Cys missense+splice_region ADAM18 14 80912 1.73027E-4 40456 0 8.65381E-5
8-39581426-G-A p.Arg726His missense+splice_region ADAM18 1 80570 1.24116E-5 40285 0 4.64186E-5
8-39581427-G-C c.2177+1G>C splice_donor ADAM18 12 80558 1.48961E-4 40279 0 3.83558E-4
8-39581434-T-A c.2177+8T>A splice_region ADAM18 2 80340 2.48942E-5 40170 0 NA
8-39587411-C-G c.2178-6C>G splice_region ADAM18 2 83144 2.40547E-5 41572 0 7.9576E-6
8-39587416-G-C c.2178-1G>C splice_acceptor ADAM18 3 83166 3.60724E-5 41583 0 3.29745E-5
8-39587424-T-C p.Ser729Pro missense ADAM18 1 83234 1.20143E-5 41617 0 NA
8-39587427-G-A p.Val730Ile missense ADAM18 10 83240 1.20135E-4 41620 0 1.89544E-4
8-39587441-C-T p.Ser734Ser synonymous ADAM18 1 83266 1.20097E-5 41633 0 6.76235E-5
8-39587444-T-C p.Asp735Asp synonymous ADAM18 1 83268 1.20094E-5 41634 0 7.95577E-6
8-39587445-G-C p.Asp736His missense ADAM18 1 83266 1.20097E-5 41633 0 NA
8-39587447-C-T p.Asp736Asp synonymous ADAM18 8 83262 9.60822E-5 41631 0 5.03525E-4
8-39587448-G-A p.Val737Met missense ADAM18 2 83258 2.40217E-5 41629 0 2.38681E-5
8-39587476-CATAGCAA-C c.*1531_*1537delGCAAATA splice_region ADAM18 5 83246 6.00629E-5 41623 0 NA
8-39587487-A-G c.*1538A>G splice_region ADAM18 1 83228 1.20152E-5 41614 0 NA
8-39587581-C-T c.*122C>T splice_region ADAM18 2 74348 2.69005E-5 37174 0 NA