| Gene ID | 284 |
| Symbol | ANGPT1 |
| Synonymous | AGP1|AGPT|ANG1 |
| Full name | angiopoietin 1 |
| Gene description | ANG-1|angiopoietin-1 |
| Cytoband | 8q23.1 |
| Gene type | protein-coding |
| Synonymous | MIM:601667; HGNC:HGNC:484; Ensembl:ENSG00000154188; HPRD:03392; Vega:OTTHUMG00000164812 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.604G>A; p.E202K; 8:107322100-107322100 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.604G>A; p.E202K; 8:107322100-107322100 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.565G>A; p.E189K; 8:107336160-107336160 |
skin | malignant_melanoma | Substitution - Missense |
c.1388C>G; p.A463G; 8:107251961-107251961 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.701A>G; p.E234G; 8:107322003-107322003 |
skin | malignant_melanoma | Substitution - Missense |
c.441T>A; p.D147E; 8:107346954-107346954 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1008C>A; p.F336L; 8:107293963-107293963 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.821G>A; p.G274E; 8:107303352-107303352 |
skin | malignant_melanoma | Substitution - Missense |
c.821G>A; p.G274E; 8:107303352-107303352 |
skin | malignant_melanoma | Substitution - Missense |
c.1311A>G; p.K437K; 8:107264243-107264243 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.821G>A; p.G274E; 8:107303352-107303352 |
skin | malignant_melanoma | Substitution - Missense |
c.821G>A; p.G274E; 8:107303352-107303352 |
skin; arm | malignant_melanoma | Substitution - Missense |
c.767A>G; p.D256G; 8:107321937-107321937 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1268A>C; p.D423A; 8:107264286-107264286 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.1235G>A; p.G412E; 8:107264319-107264319 |
skin | malignant_melanoma | Substitution - Missense |
c.275A>C; p.N92T; 8:107497284-107497284 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1024G>A; p.E342K; 8:107293947-107293947 |
skin | malignant_melanoma | Substitution - Missense |
c.1024G>A; p.E342K; 8:107293947-107293947 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1235G>A; p.G412E; 8:107264319-107264319 |
skin | malignant_melanoma | Substitution - Missense |
c.1235G>A; p.G412E; 8:107264319-107264319 |
skin | malignant_melanoma | Substitution - Missense |
c.64C>G; p.Q22E; 8:107497495-107497495 |
breast | carcinoma | Substitution - Missense |
c.1235G>A; p.G412E; 8:107264319-107264319 |
skin; arm | malignant_melanoma | Substitution - Missense |
c.562C>T; p.H188Y; 8:107336163-107336163 |
skin | malignant_melanoma | Substitution - Missense |
c.1037G>A; p.G346D; 8:107284847-107284847 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.439G>A; p.D147N; 8:107346956-107346956 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.142C>T; p.P48S; 8:107497417-107497417 |
skin | malignant_melanoma | Substitution - Missense |
c.1456C>T; p.R486C; 8:107251893-107251893 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1333G>T; p.G445*; 8:107264221-107264221 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.64C>T; p.Q22*; 8:107497495-107497495 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1166A>G; p.D389G; 8:107284718-107284718 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.663C>G; p.G221G; 8:107322041-107322041 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1151C>T; p.A384V; 8:107284733-107284733 |
skin; scalp | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.40C>T; p.L14L; 8:107497519-107497519 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1001T>C; p.L334P; 8:107293970-107293970 |
liver | carcinoma | Substitution - Missense |
c.1181G>A; p.G394E; 8:107284703-107284703 |
skin | malignant_melanoma | Substitution - Missense |
c.886A>G; p.S296G; 8:107303287-107303287 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1181G>A; p.G394E; 8:107284703-107284703 |
skin | malignant_melanoma | Substitution - Missense |
c.832G>A; p.E278K; 8:107303341-107303341 |
skin | malignant_melanoma | Substitution - Missense |
c.1181G>A; p.G394E; 8:107284703-107284703 |
skin; upper_leg | malignant_melanoma | Substitution - Missense |
c.1388C>T; p.A463V; 8:107251961-107251961 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.1388C>T; p.A463V; 8:107251961-107251961 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.329C>T; p.S110L; 8:107347066-107347066 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.329C>T; p.S110L; 8:107347066-107347066 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1075G>A; p.E359K; 8:107284809-107284809 |
skin | malignant_melanoma | Substitution - Missense |
c.970A>G; p.T324A; 8:107294001-107294001 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.603G>A; p.M201I; 8:107322101-107322101 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.398G>A; p.S133N; 8:107346997-107346997 |
skin | malignant_melanoma | Substitution - Missense |
c.754C>T; p.L252L; 8:107321950-107321950 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1411A>G; p.N471D; 8:107251938-107251938 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1390G>C; p.G464R; 8:107251959-107251959 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.576-1G>C; p.?; 8:107322129-107322129 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Unknown |
c.640G>A; p.E214K; 8:107322064-107322064 |
skin; arm | malignant_melanoma | Substitution - Missense |
c.640G>A; p.E214K; 8:107322064-107322064 |
skin | malignant_melanoma | Substitution - Missense |
c.1402G>A; p.G468R; 8:107251947-107251947 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.361C>A; p.Q121K; 8:107347034-107347034 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.510C>A; p.T170T; 8:107336215-107336215 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.757G>A; p.E253K; 8:107321947-107321947 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1389G>T; p.A463A; 8:107251960-107251960 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.155G>T; p.G52V; 8:107497404-107497404 |
liver | carcinoma | Substitution - Missense |
c.1303A>T; p.M435L; 8:107264251-107264251 |
liver | carcinoma | Substitution - Missense |
c.765G>A; p.M255I; 8:107321939-107321939 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.155G>T; p.G52V; 8:107497404-107497404 |
liver | carcinoma | Substitution - Missense |
c.547G>A; p.E183K; 8:107336178-107336178 |
skin | malignant_melanoma | Substitution - Missense |
c.547G>A; p.E183K; 8:107336178-107336178 |
skin | malignant_melanoma | Substitution - Missense |
c.1148G>A; p.R383Q; 8:107284736-107284736 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1037G>T; p.G346V; 8:107284847-107284847 |
breast | carcinoma | Substitution - Missense |
c.467C>A; p.T156N; 8:107336258-107336258 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1333+1G>A; p.?; 8:107264220-107264220 |
skin | malignant_melanoma | Unknown |
c.1035G>T; p.M345I; 8:107293936-107293936 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.211G>A; p.A71T; 8:107497348-107497348 |
haematopoietic_and_lymphoid_tissue; central_nervous_system | lymphoid_neoplasm; primary_central_nervous_system_lymphoma | Substitution - Missense |
c.1057G>A; p.E353K; 8:107284827-107284827 |
skin | malignant_melanoma | Substitution - Missense |
c.1143G>A; p.G381G; 8:107284741-107284741 |
skin | malignant_melanoma | Substitution - coding silent |
c.1477C>T; p.R493*; 8:107251872-107251872 |
pancreas | carcinoma | Substitution - Nonsense |
c.1477C>T; p.R493*; 8:107251872-107251872 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1477C>T; p.R493*; 8:107251872-107251872 |
pancreas | carcinoma | Substitution - Nonsense |
c.1340G>A; p.W447*; 8:107252009-107252009 |
skin | malignant_melanoma | Substitution - Nonsense |
c.447G>A; p.E149E; 8:107346948-107346948 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.660A>G; p.Q220Q; 8:107322044-107322044 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.660A>G; p.Q220Q; 8:107322044-107322044 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.985C>T; p.R329C; 8:107293986-107293986 |
skin | malignant_melanoma | Substitution - Missense |
c.985C>T; p.R329C; 8:107293986-107293986 |
skin | malignant_melanoma | Substitution - Missense |
c.158A>T; p.N53I; 8:107497401-107497401 |
pancreas | carcinoma | Substitution - Missense |
c.158A>T; p.N53I; 8:107497401-107497401 |
pancreas | carcinoma | Substitution - Missense |
c.750G>T; p.Q250H; 8:107321954-107321954 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.879T>C; p.F293F; 8:107303294-107303294 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.250C>T; p.Q84*; 8:107497309-107497309 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.661G>A; p.G221S; 8:107322043-107322043 |
skin | malignant_melanoma | Substitution - Missense |
c.124G>A; p.A42T; 8:107497435-107497435 |
NS | malignant_melanoma | Substitution - Missense |
c.394A>G; p.T132A; 8:107347001-107347001 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1470G>A; p.M490I; 8:107251879-107251879 |
skin | malignant_melanoma | Substitution - Missense |
c.965G>T; p.G322V; 8:107294006-107294006 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.907A>G; p.I303V; 8:107303266-107303266 |
breast | carcinoma | Substitution - Missense |
c.1328C>T; p.T443I; 8:107264226-107264226 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1232C>A; p.A411E; 8:107264322-107264322 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1232C>A; p.A411E; 8:107264322-107264322 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.109C>A; p.Q37K; 8:107497450-107497450 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.797C>G; p.T266S; 8:107321907-107321907 |
breast | carcinoma | Substitution - Missense |
c.1373G>A; p.G458E; 8:107251976-107251976 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1457G>A; p.R486H; 8:107251892-107251892 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.841C>T; p.P281S; 8:107303332-107303332 |
skin | malignant_melanoma | Substitution - Missense |
c.342G>C; p.Q114H; 8:107347053-107347053 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.476T>C; p.L159P; 8:107336249-107336249 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.15T>A; p.L5L; 8:107497544-107497544 |
liver | carcinoma | Substitution - coding silent |
c.15T>A; p.L5L; 8:107497544-107497544 |
liver | carcinoma | Substitution - coding silent |
c.395C>T; p.T132I; 8:107347000-107347000 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.809T>C; p.L270S; 8:107303364-107303364 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1473G>A; p.M491I; 8:107251876-107251876 |
skin | malignant_melanoma | Substitution - Missense |
c.1473G>A; p.M491I; 8:107251876-107251876 |
skin | malignant_melanoma | Substitution - Missense |
c.376A>G; p.T126A; 8:107347019-107347019 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.681A>C; p.T227T; 8:107322023-107322023 |
skin | malignant_melanoma | Substitution - coding silent |
c.1132G>A; p.D378N; 8:107284752-107284752 |
skin | malignant_melanoma | Substitution - Missense |
c.1132G>A; p.D378N; 8:107284752-107284752 |
skin | malignant_melanoma | Substitution - Missense |
c.1132G>A; p.D378N; 8:107284752-107284752 |
skin | malignant_melanoma | Substitution - Missense |
c.1132G>A; p.D378N; 8:107284752-107284752 |
skin | malignant_melanoma | Substitution - Missense |
c.1070G>A; p.G357E; 8:107284814-107284814 |
skin | malignant_melanoma | Substitution - Missense |
c.676C>G; p.Q226E; 8:107322028-107322028 |
prostate | carcinoma | Substitution - Missense |
c.854_855insAA; p.C285fs*1; 8:107303318-107303319 |
ovary | carcinoma; serous_carcinoma | Insertion - Frameshift |
c.1416G>A; p.G472G; 8:107251933-107251933 |
skin | malignant_melanoma | Substitution - coding silent |
c.700G>A; p.E234K; 8:107322004-107322004 |
skin | malignant_melanoma | Substitution - Missense |
c.477T>C; p.L159L; 8:107336248-107336248 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.405C>G; p.L135L; 8:107346990-107346990 |
breast | carcinoma | Substitution - coding silent |
c.1187A>G; p.E396G; 8:107284697-107284697 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.738C>T; p.V246V; 8:107321966-107321966 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.738C>T; p.V246V; 8:107321966-107321966 |
skin | malignant_melanoma | Substitution - coding silent |
c.899C>T; p.T300I; 8:107303274-107303274 |
skin | malignant_melanoma | Substitution - Missense |
c.1478G>A; p.R493Q; 8:107251871-107251871 |
pancreas | carcinoma | Substitution - Missense |
c.1478G>A; p.R493Q; 8:107251871-107251871 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.17_21delCCTTT; p.S6fs*27; 8:107497538-107497542 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1478G>A; p.R493Q; 8:107251871-107251871 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.12C>T; p.F4F; 8:107497547-107497547 |
skin | malignant_melanoma | Substitution - coding silent |
c.12C>T; p.F4F; 8:107497547-107497547 |
skin | malignant_melanoma | Substitution - coding silent |
c.1215A>G; p.K405K; 8:107264339-107264339 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.535C>T; p.Q179*; 8:107336190-107336190 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.201G>A; p.L67L; 8:107497358-107497358 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1223C>A; p.T408N; 8:107264331-107264331 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.663C>T; p.G221G; 8:107322041-107322041 |
skin | malignant_melanoma | Substitution - coding silent |
c.762G>T; p.L254L; 8:107321942-107321942 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.655C>A; p.L219I; 8:107322049-107322049 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1267G>A; p.D423N; 8:107264287-107264287 |
skin | malignant_melanoma | Substitution - Missense |
c.1066C>T; p.L356L; 8:107284818-107284818 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1066C>T; p.L356L; 8:107284818-107284818 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.228G>T; p.P76P; 8:107497331-107497331 |
breast | carcinoma | Substitution - coding silent |
c.489G>A; p.L163L; 8:107336236-107336236 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.664T>C; p.L222L; 8:107322040-107322040 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1198T>C; p.Y400H; 8:107284686-107284686 |
salivary_gland; parotid | carcinoma; adenoid_cystic_carcinoma | Substitution - Missense |
c.887G>T; p.S296I; 8:107303286-107303286 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.790C>G; p.L264V; 8:107321914-107321914 |
breast | carcinoma | Substitution - Missense |
c.1421A>C; p.K474T; 8:107251928-107251928 |
pancreas | carcinoma | Substitution - Missense |
c.1382A>G; p.Y461C; 8:107251967-107251967 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.370A>T; p.T124S; 8:107347025-107347025 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.375T>C; p.A125A; 8:107347020-107347020 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.1057G>T; p.E353*; 8:107284827-107284827 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.673C>T; p.R225C; 8:107322031-107322031 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.333G>A; p.E111E; 8:107347062-107347062 |
liver | carcinoma | Substitution - coding silent |
c.333G>A; p.E111E; 8:107347062-107347062 |
liver | carcinoma | Substitution - coding silent |
c.396C>A; p.T132T; 8:107346999-107346999 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.409C>G; p.Q137E; 8:107346986-107346986 |
breast | carcinoma | Substitution - Missense |
c.396C>A; p.T132T; 8:107346999-107346999 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.388A>T; p.I130L; 8:107347007-107347007 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1354G>A; p.G452S; 8:107251995-107251995 |
skin | malignant_melanoma | Substitution - Missense |
c.690C>T; p.I230I; 8:107322014-107322014 |
skin | malignant_melanoma | Substitution - coding silent |
c.587A>C; p.H196P; 8:107322117-107322117 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.829G>A; p.E277K; 8:107303344-107303344 |
skin | malignant_melanoma | Substitution - Missense |
c.1023G>T; p.K341N; 8:107293948-107293948 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1481C>T; p.P494L; 8:107251868-107251868 |
skin | malignant_melanoma | Substitution - Missense |
c.781C>T; p.L261F; 8:107321923-107321923 |
skin | malignant_melanoma | Substitution - Missense |
c.1203G>C; p.R401S; 8:107264351-107264351 |
skin | malignant_melanoma | Substitution - Missense |
c.594C>T; p.I198I; 8:107322110-107322110 |
skin | malignant_melanoma | Substitution - coding silent |
c.385G>A; p.E129K; 8:107347010-107347010 |
skin | malignant_melanoma | Substitution - Missense |
c.510C>T; p.T170T; 8:107336215-107336215 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.351G>C; p.Q117H; 8:107347044-107347044 |
breast | carcinoma | Substitution - Missense |
c.174G>T; p.T58T; 8:107497385-107497385 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.432G>A; p.K144K; 8:107346963-107346963 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1403G>T; p.G468V; 8:107251946-107251946 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.208_209delGA; p.D70fs*31; 8:107497350-107497351 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.208_209delGA; p.D70fs*31; 8:107497350-107497351 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.208_209delGA; p.D70fs*31; 8:107497350-107497351 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.208_209delGA; p.D70fs*31; 8:107497350-107497351 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.208_209delGA; p.D70fs*31; 8:107497350-107497351 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.208_209delGA; p.D70fs*31; 8:107497350-107497351 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.208_209delGA; p.D70fs*31; 8:107497350-107497351 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.208_209delGA; p.D70fs*31; 8:107497350-107497351 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.576-1G>A; p.?; 8:107322129-107322129 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.473G>A; p.R158Q; 8:107336252-107336252 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1138G>A; p.E380K; 8:107284746-107284746 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.707A>G; p.Q236R; 8:107321997-107321997 |
skin | malignant_melanoma | Substitution - Missense |
c.621A>G; p.E207E; 8:107322083-107322083 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1180G>A; p.G394R; 8:107284704-107284704 |
skin | malignant_melanoma | Substitution - Missense |
c.888T>A; p.S296R; 8:107303285-107303285 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.843A>T; p.P281P; 8:107303330-107303330 |
breast | carcinoma | Substitution - coding silent |
c.917T>C; p.M306T; 8:107303256-107303256 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.145G>C; p.E49Q; 8:107497414-107497414 |
liver | carcinoma | Substitution - Missense |
c.893T>C; p.I298T; 8:107303280-107303280 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.145G>C; p.E49Q; 8:107497414-107497414 |
liver | carcinoma | Substitution - Missense |
c.1357C>T; p.P453S; 8:107251992-107251992 |
skin | malignant_melanoma | Substitution - Missense |
c.966T>A; p.G322G; 8:107294005-107294005 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.27C>T; p.F9F; 8:107497532-107497532 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.43A>G; p.T15A; 8:107497516-107497516 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.367C>T; p.H123Y; 8:107347028-107347028 |
skin | malignant_melanoma | Substitution - Missense |
c.852C>T; p.D284D; 8:107303321-107303321 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.704A>G; p.K235R; 8:107322000-107322000 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.1247G>A; p.S416N; 8:107264307-107264307 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.576-5T>A; p.?; 8:107322133-107322133 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.410A>G; p.Q137R; 8:107346985-107346985 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.648A>C; p.K216N; 8:107322056-107322056 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.801A>G; p.K267K; 8:107321903-107321903 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1101G>A; p.Q367Q; 8:107284783-107284783 |
skin | malignant_melanoma | Substitution - coding silent |
c.1298A>G; p.N433S; 8:107264256-107264256 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1403G>A; p.G468E; 8:107251946-107251946 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1403G>A; p.G468E; 8:107251946-107251946 |
skin | malignant_melanoma | Substitution - Missense |
c.1403G>A; p.G468E; 8:107251946-107251946 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1403G>A; p.G468E; 8:107251946-107251946 |
skin | malignant_melanoma | Substitution - Missense |
c.656T>C; p.L219P; 8:107322048-107322048 |
liver | carcinoma | Substitution - Missense |
c.656T>C; p.L219P; 8:107322048-107322048 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.139C>T; p.L47F; 8:107497420-107497420 |
pancreas | carcinoma | Substitution - Missense |
c.411G>A; p.Q137Q; 8:107346984-107346984 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.793T>C; p.C265R; 8:107321911-107321911 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.945T>A; p.N315K; 8:107294026-107294026 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.945T>A; p.N315K; 8:107294026-107294026 |
liver | carcinoma | Substitution - Missense |
c.446A>G; p.E149G; 8:107346949-107346949 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.301G>A; p.E101K; 8:107347094-107347094 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.301G>A; p.E101K; 8:107347094-107347094 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1426C>T; p.H476Y; 8:107251923-107251923 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.962G>A; p.G321E; 8:107294009-107294009 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.392G>A; p.G131E; 8:107347003-107347003 |
skin; head_neck | malignant_melanoma; superficial_spreading | Substitution - Missense |
c.1451C>T; p.S484F; 8:107251898-107251898 |
skin | malignant_melanoma | Substitution - Missense |
c.392G>A; p.G131E; 8:107347003-107347003 |
skin | malignant_melanoma | Substitution - Missense |
c.987T>C; p.R329R; 8:107293984-107293984 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.848G>A; p.R283K; 8:107303325-107303325 |
skin | malignant_melanoma | Substitution - Missense |
c.1482T>A; p.P494P; 8:107251867-107251867 |
skin | malignant_melanoma | Substitution - coding silent |