COSM1741097 | c.578_579insTTG | p.D193_D194insC | Insertion - In frame | Haematopoietic_and_lymphoid_tissue
|
COSM5607220 | c.1942G>A | p.E648K | Substitution - Missense | Skin
|
COSM2723784 | c.1748T>G | p.L583R | Substitution - Missense | Large_intestine
|
COSM1497183 | c.101T>C | p.V34A | Substitution - Missense | Kidney
|
COSM1114019 | c.228G>T | p.E76D | Substitution - Missense | Endometrium
|
COSM5445901 | c.568_569insGTG | p.D189_D190insG | Insertion - In frame | Thyroid
|
COSM216176 | c.168C>A | p.Y56* | Substitution - Nonsense | Central_nervous_system
|
COSM3964636 | c.1050C>T | p.V350V | Substitution - coding silent | Lung
|
COSM1465246 | c.563_564insTGA | p.D194_V195insD | Insertion - In frame | Upper_aerodigestive_tract
|
COSM1465247 | c.587delT | p.C198fs*43 | Deletion - Frameshift | Large_intestine
|
COSM3719939 | c.1180delA | p.I394fs*1 | Deletion - Frameshift | Haematopoietic_and_lymphoid_tissue
|
COSM5607220 | c.1942G>A | p.E648K | Substitution - Missense | Skin
|
COSM4507545 | c.749C>T | p.P250L | Substitution - Missense | Skin
|
COSM1114032 | c.1589T>C | p.V530A | Substitution - Missense | Endometrium
|
COSM165656 | c.762T>A | p.N254K | Substitution - Missense | Breast
|
COSM1114027 | c.987G>A | p.E329E | Substitution - coding silent | Endometrium
|
COSM5644933 | c.1527G>T | p.L509F | Substitution - Missense | Oesophagus
|
COSM1114033 | c.1595C>T | p.P532L | Substitution - Missense | Endometrium
|
COSM1465246 | c.563_564insTGA | p.D194_V195insD | Insertion - In frame | Upper_aerodigestive_tract
|
COSM5447879 | c.174T>C | p.H58H | Substitution - coding silent | Large_intestine
|
COSM1114038 | c.1914G>T | p.M638I | Substitution - Missense | Endometrium
|
COSM1114026 | c.922T>G | p.L308V | Substitution - Missense | Endometrium
|
COSM85241 | c.954T>C | p.S318S | Substitution - coding silent | Pancreas
|
COSM1465246 | c.563_564insTGA | p.D194_V195insD | Insertion - In frame | Upper_aerodigestive_tract
|
COSM4186986 | c.1748T>A | p.L583H | Substitution - Missense | Kidney
|
COSM5487297 | c.85G>T | p.G29* | Substitution - Nonsense | Haematopoietic_and_lymphoid_tissue
|
COSM1114022 | c.559G>A | p.D187N | Substitution - Missense | Endometrium
|
COSM4377010 | c.1707A>G | p.I569M | Substitution - Missense | Large_intestine
|
COSM1114025 | c.911C>G | p.S304C | Substitution - Missense | Endometrium
|
COSM4904598 | c.1876C>T | p.P626S | Substitution - Missense | Skin
|
COSM1737066 | c.8G>A | p.S3N | Substitution - Missense | Central_nervous_system
|
COSM3843404 | c.1673C>A | p.S558Y | Substitution - Missense | Breast
|
COSM5419217 | c.277G>A | p.V93I | Substitution - Missense | Haematopoietic_and_lymphoid_tissue
|
COSM1465255 | c.1972A>G | p.T658A | Substitution - Missense | Large_intestine
|
COSM2723784 | c.1748T>G | p.L583R | Substitution - Missense | Large_intestine
|
COSM5644932 | c.1522A>G | p.S508G | Substitution - Missense | Oesophagus
|
COSM456627 | c.2014_2015insTA | p.Y672fs*>2 | Insertion - Frameshift | Breast
|
COSM4106225 | c.203T>C | p.V68A | Substitution - Missense | Stomach
|
COSM1465246 | c.563_564insTGA | p.D194_V195insD | Insertion - In frame | Central_nervous_system
|
COSM324355 | c.1687C>T | p.Q563* | Substitution - Nonsense | Lung
|
COSM1465246 | c.563_564insTGA | p.D194_V195insD | Insertion - In frame | Upper_aerodigestive_tract
|
COSM3557312 | c.1772C>T | p.S591F | Substitution - Missense | Skin
|
COSM755631 | c.691C>A | p.P231T | Substitution - Missense | Lung
|
COSM1114028 | c.1003A>G | p.I335V | Substitution - Missense | Endometrium
|
COSM1465246 | c.563_564insTGA | p.D194_V195insD | Insertion - In frame | Upper_aerodigestive_tract
|
COSM1114021 | c.450G>T | p.Q150H | Substitution - Missense | Endometrium
|
COSM5587019 | c.1354C>T | p.P452S | Substitution - Missense | Skin
|
COSM3843403 | c.1651C>T | p.Q551* | Substitution - Nonsense | Breast
|
COSM1741099 | c.585_586insTGT | p.V195_I196insC | Insertion - In frame | Haematopoietic_and_lymphoid_tissue
|
COSM1114034 | c.1609C>T | p.R537C | Substitution - Missense | Endometrium
|
COSM1465253 | c.1569G>T | p.P523P | Substitution - coding silent | Large_intestine
|
COSM3774021 | c.584T>A | p.V195D | Substitution - Missense | Kidney
|
COSM5419432 | c.1312G>A | p.G438S | Substitution - Missense | Haematopoietic_and_lymphoid_tissue
|
COSM4850664 | c.1634C>T | p.T545I | Substitution - Missense | Cervix
|
COSM1465246 | c.563_564insTGA | p.D194_V195insD | Insertion - In frame | Upper_aerodigestive_tract
|
COSM1114031 | c.1569G>A | p.P523P | Substitution - coding silent | Endometrium
|
COSM1744772 | c.474T>G | p.D158E | Substitution - Missense | Biliary_tract
|
COSM4548962 | c.460G>C | p.D154H | Substitution - Missense | Skin
|
COSM1114035 | c.1701A>G | p.S567S | Substitution - coding silent | Endometrium
|
COSM5693909 | c.1367A>T | p.E456V | Substitution - Missense | Soft_tissue
|
COSM3557313 | c.1883G>A | p.G628E | Substitution - Missense | Skin
|
COSM5703381 | c.1392delA | p.T466fs*11 | Deletion - Frameshift | Autonomic_ganglia
|
COSM1114018 | c.122G>A | p.R41Q | Substitution - Missense | Endometrium
|
COSM1315150 | c.58A>T | p.N20Y | Substitution - Missense | Urinary_tract
|
COSM3728748 | c.1407C>T | p.S469S | Substitution - coding silent | Stomach
|
COSM5960098 | c.1180A>T | p.I394L | Substitution - Missense | Thyroid
|
COSM1465246 | c.563_564insTGA | p.D194_V195insD | Insertion - In frame | Upper_aerodigestive_tract
|
COSM270575 | c.47G>A | p.G16D | Substitution - Missense | Large_intestine
|
COSM216176 | c.168C>A | p.Y56* | Substitution - Nonsense | Central_nervous_system
|
COSM1465246 | c.563_564insTGA | p.D194_V195insD | Insertion - In frame | Central_nervous_system
|
COSM1665064 | c.708C>G | p.N236K | Substitution - Missense | Kidney
|
COSM2723765 | c.1284G>A | p.S428S | Substitution - coding silent | Large_intestine
|
COSM4106226 | c.281G>C | p.R94T | Substitution - Missense | Stomach
|
COSM5607220 | c.1942G>A | p.E648K | Substitution - Missense | Skin
|
COSM4106227 | c.526G>A | p.E176K | Substitution - Missense | Stomach
|
COSM3694307 | c.591T>G | p.F197L | Substitution - Missense | Large_intestine
|
COSM1465246 | c.563_564insTGA | p.D194_V195insD | Insertion - In frame | Upper_aerodigestive_tract
|
COSM1741095 | c.581_582insCTG | p.D194_V195insC | Insertion - In frame | Haematopoietic_and_lymphoid_tissue
|
COSM73333 | c.775A>G | p.S259G | Substitution - Missense | Ovary
|
COSM3363784 | c.1252T>A | p.L418I | Substitution - Missense | Kidney
|
COSM1741155 | c.577_578insTAT | p.D193>VY | Complex - insertion inframe | Haematopoietic_and_lymphoid_tissue
|
COSM3992320 | c.76C>T | p.R26C | Substitution - Missense | Kidney
|
COSM1465251 | c.956C>T | p.A319V | Substitution - Missense | Large_intestine
|
COSM1465250 | c.939G>A | p.Q313Q | Substitution - coding silent | Large_intestine
|
COSM117269 | c.620C>A | p.T207N | Substitution - Missense | Ovary
|
COSM4742125 | c.1789T>C | p.Y597H | Substitution - Missense | Large_intestine
|
COSM1465252 | c.1056T>C | p.N352N | Substitution - coding silent | Large_intestine
|
COSM1465246 | c.563_564insTGA | p.D194_V195insD | Insertion - In frame | Upper_aerodigestive_tract
|
COSM5487297 | c.85G>T | p.G29* | Substitution - Nonsense | Haematopoietic_and_lymphoid_tissue
|
COSM1465246 | c.563_564insTGA | p.D194_V195insD | Insertion - In frame | Central_nervous_system
|
COSM3424402 | c.1311C>T | p.I437I | Substitution - coding silent | Large_intestine
|
COSM1741096 | c.569_570insNTG | p.D190>XC | Complex - insertion inframe | Haematopoietic_and_lymphoid_tissue
|
COSM5695248 | c.339A>T | p.I113I | Substitution - coding silent | Soft_tissue
|
COSM2723784 | c.1748T>G | p.L583R | Substitution - Missense | Large_intestine
|
COSM1270711 | c.510T>C | p.S170S | Substitution - coding silent | Oesophagus
|
COSM3390393 | c.421G>T | p.D141Y | Substitution - Missense | Pancreas
|
COSM4742123 | c.1520C>T | p.T507I | Substitution - Missense | Large_intestine
|
COSM367586 | c.1847G>T | p.G616V | Substitution - Missense | Lung
|
COSM1465246 | c.563_564insTGA | p.D194_V195insD | Insertion - In frame | Upper_aerodigestive_tract
|
COSM2723751 | c.12A>C | p.R4S | Substitution - Missense | Large_intestine
|
COSM5699496 | c.132G>C | p.R44R | Substitution - coding silent | Soft_tissue
|
COSM165655 | c.1039G>C | p.D347H | Substitution - Missense | Breast
|
COSM5427256 | c.112G>A | p.V38M | Substitution - Missense | Haematopoietic_and_lymphoid_tissue
|
COSM130277 | c.1283C>T | p.S428L | Substitution - Missense | Upper_aerodigestive_tract
|
COSM4742124 | c.1625T>A | p.I542N | Substitution - Missense | Large_intestine
|
COSM202338 | c.1048G>A | p.V350I | Substitution - Missense | Central_nervous_system
|
COSM1114024 | c.832C>A | p.P278T | Substitution - Missense | Endometrium
|
COSM3800373 | c.435G>A | p.K145K | Substitution - coding silent | Urinary_tract
|
COSM6018707 | c.1230G>T | p.M410I | Substitution - Missense | Skin
|
COSM1465246 | c.563_564insTGA | p.D194_V195insD | Insertion - In frame | Central_nervous_system
|
COSM4945104 | c.26C>G | p.A9G | Substitution - Missense | Liver
|
COSM5949393 | c.1123A>T | p.M375L | Substitution - Missense | Haematopoietic_and_lymphoid_tissue
|
COSM3557311 | c.1753C>T | p.R585C | Substitution - Missense | Skin
|
COSM1114036 | c.1803C>T | p.S601S | Substitution - coding silent | Endometrium
|
COSM3557309 | c.1596T>C | p.P532P | Substitution - coding silent | Skin
|
COSM1465254 | c.1955T>A | p.I652N | Substitution - Missense | Large_intestine
|
COSM4106229 | c.1529G>A | p.R510Q | Substitution - Missense | Stomach
|
COSM3913273 | c.1163C>T | p.S388F | Substitution - Missense | Skin
|
COSM26961 | c.598G>A | p.E200K | Substitution - Missense | Skin
|
COSM1114016 | c.13A>C | p.K5Q | Substitution - Missense | Endometrium
|
COSM1114020 | c.335T>A | p.F112Y | Substitution - Missense | Endometrium
|
COSM4610146 | c.1262C>T | p.A421V | Substitution - Missense | Haematopoietic_and_lymphoid_tissue
|
COSM4106231 | c.1814G>A | p.S605N | Substitution - Missense | Stomach
|
COSM2723766 | c.1323T>G | p.T441T | Substitution - coding silent | Large_intestine
|
COSM202338 | c.1048G>A | p.V350I | Substitution - Missense | Central_nervous_system
|
COSM5607220 | c.1942G>A | p.E648K | Substitution - Missense | Skin
|
COSM1465246 | c.563_564insTGA | p.D194_V195insD | Insertion - In frame | Upper_aerodigestive_tract
|
COSM1741153 | c.574_575insAAT | p.D192>EY | Complex - insertion inframe | Haematopoietic_and_lymphoid_tissue
|
COSM85241 | c.954T>C | p.S318S | Substitution - coding silent | Breast
|
COSM5607220 | c.1942G>A | p.E648K | Substitution - Missense | Skin
|
COSM3843402 | c.1009G>A | p.D337N | Substitution - Missense | Breast
|
COSM4838115 | c.1398G>T | p.T466T | Substitution - coding silent | Cervix
|
COSM4106228 | c.1105G>T | p.G369* | Substitution - Nonsense | Stomach
|
COSM3720430 | c.110T>C | p.I37T | Substitution - Missense | Haematopoietic_and_lymphoid_tissue
|
COSM1114030 | c.1172T>G | p.I391S | Substitution - Missense | Endometrium
|
COSM1114017 | c.42C>A | p.Y14* | Substitution - Nonsense | Endometrium
|
COSM383674 | c.432C>T | p.D144D | Substitution - coding silent | Lung
|
COSM4843943 | c.1673C>T | p.S558F | Substitution - Missense | Cervix
|
COSM1465246 | c.563_564insTGA | p.D194_V195insD | Insertion - In frame | Upper_aerodigestive_tract
|
COSM5622205 | c.1129A>G | p.I377V | Substitution - Missense | Haematopoietic_and_lymphoid_tissue
|
COSM1741154 | c.580_581insTAT | p.D194>VY | Complex - insertion inframe | Haematopoietic_and_lymphoid_tissue
|
COSM4106230 | c.1753C>G | p.R585G | Substitution - Missense | Stomach
|
COSM1114037 | c.1887C>T | p.T629T | Substitution - coding silent | Endometrium
|
COSM26961 | c.598G>A | p.E200K | Substitution - Missense | Upper_aerodigestive_tract
|
COSM3557308 | c.1175C>T | p.S392L | Substitution - Missense | Skin
|
COSM1465246 | c.563_564insTGA | p.D194_V195insD | Insertion - In frame | Upper_aerodigestive_tract
|
COSM1114029 | c.1060T>C | p.S354P | Substitution - Missense | Endometrium
|
COSM5446592 | c.578_579insCGA | p.D194_V195insD | Insertion - In frame | Thyroid
|
COSM367800 | c.1231G>T | p.E411* | Substitution - Nonsense | Lung
|
COSM4459628 | c.1133C>T | p.P378L | Substitution - Missense | Skin
|
COSM1114023 | c.656C>A | p.S219Y | Substitution - Missense | Endometrium
|
COSM1490422 | c.1872A>C | p.E624D | Substitution - Missense | Breast
|
COSM1319528 | c.230T>A | p.I77N | Substitution - Missense | Haematopoietic_and_lymphoid_tissue
|
COSM3557310 | c.1700C>T | p.S567L | Substitution - Missense | Skin
|
COSM356350 | c.1408G>T | p.E470* | Substitution - Nonsense | Lung
|