General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information |
|
---|---|
Gene ID | 6794 |
Name | STK11 |
Synonymous | serine/threonine kinase 11;STK11;serine/threonine kinase 11 |
Definition | liver kinase B1|polarization-related protein LKB1|renal carcinoma antigen NY-REN-19|serine/threonine-protein kinase 11|serine/threonine-protein kinase LKB1|serine/threonine-protein kinase STK11 |
Position | 19p13.3 |
Gene Type | protein-coding |
Mutation summary: | Mutations in domains Mutational pattern in 17 major cancer types LoF vs missense mutations All the copy number variations from COSMIC database V72 All the mutations from COSMIC database V72 |
Mutation summary in protein domains | Top |
The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers | Top |
Loss of Function mutations compare to missense mutations | Top |
The ratio of the loss-of-function mutations over missense mutations is 0.48. |
The copy number variations for various cancers | Top |
The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) |
Site |
Histology |
Mutation Type |
---|---|---|---|
c.115C>T; p.R39C; 19:1207028-1207028 |
liver | carcinoma | Substitution - Missense |
c.882G>A; p.P294P; 19:1221968-1221968 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - coding silent |
c.2T>C; p.M1T; 19:1206915-1206915 |
ovary | sex_cord-stromal_tumour; granulosa_cell_tumour | Substitution - Missense |
c.910C>T; p.R304W; 19:1221996-1221996 |
cervix | adenoma_malignum | Substitution - Missense |
c.115C>T; p.R39C; 19:1207028-1207028 |
liver | carcinoma | Substitution - Missense |
c.910C>T; p.R304W; 19:1221996-1221996 |
cervix | carcinoma; adenocarcinoma | Substitution - Missense |
c.571A>T; p.K191*; 19:1220479-1220479 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.68delA; p.D23fs*28; 19:1206981-1206981 |
stomach | carcinoma; diffuse_adenocarcinoma | Deletion - Frameshift |
c.597+24_597+38del; p.?; 19:1220529-1220543 |
cervix | other; lobular_endocervical_glandular_hyperplasia | Unknown |
c.587G>T; p.G196V; 19:1220495-1220495 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.157delG; p.D53fs*11; 19:1207070-1207070 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.75_76CA>T; p.I26fs*25; 19:1206988-1206989 |
lung | carcinoma; adenocarcinoma | Complex - frameshift |
c.587G>T; p.G196V; 19:1220495-1220495 |
skin | malignant_melanoma | Substitution - Missense |
c.1_1302del1302; p.0?; 19:1206914-1226647 |
cervix | carcinoma; adenocarcinoma | Whole gene deletion |
c.1_1302del1302; p.0?; 19:1206914-1226647 |
cervix | carcinoma; adenocarcinoma | Whole gene deletion |
c.1_1302del1302; p.0?; 19:1206914-1226647 |
cervix | carcinoma; squamous_cell_carcinoma | Whole gene deletion |
c.1_1302del1302; p.0?; 19:1206914-1226647 |
lung | carcinoma; adenocarcinoma | Whole gene deletion |
c.462C>T; p.H154H; 19:1219411-1219411 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - coding silent |
c.1_1302del1302; p.0?; 19:1206914-1226647 |
cervix | carcinoma; squamous_cell_carcinoma | Whole gene deletion |
c.1_1302del1302; p.0?; 19:1206914-1226647 |
cervix | carcinoma; adenocarcinoma | Whole gene deletion |
c.1_1302del1302; p.0?; 19:1206914-1226647 |
cervix | carcinoma; adenocarcinoma | Whole gene deletion |
c.1_1302del1302; p.0?; 19:1206914-1226647 |
kidney | carcinoma; renal_cell_carcinoma | Whole gene deletion |
c.1_1302del1302; p.0?; 19:1206914-1226647 |
kidney | carcinoma; renal_cell_carcinoma | Whole gene deletion |
c.1_1302del1302; p.0?; 19:1206914-1226647 |
pancreas | carcinoma; ductal_carcinoma | Whole gene deletion |
c.1_1302del1302; p.0?; 19:1206914-1226647 |
cervix | carcinoma; squamous_cell_carcinoma | Whole gene deletion |
c.1_1302del1302; p.0?; 19:1206914-1226647 |
cervix | carcinoma; squamous_cell_carcinoma | Whole gene deletion |
c.1_1302del1302; p.0?; 19:1206914-1226647 |
cervix | carcinoma; squamous_cell_carcinoma | Whole gene deletion |
c.1_1302del1302; p.0?; 19:1206914-1226647 |
cervix | carcinoma; squamous_cell_carcinoma | Whole gene deletion |
c.318G>T; p.R106R; 19:1218444-1218444 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - coding silent |
c.1_1302del1302; p.0?; 19:1206914-1226647 |
cervix | carcinoma; squamous_cell_carcinoma | Whole gene deletion |
c.1_1302del1302; p.0?; 19:1206914-1226647 |
cervix | carcinoma; squamous_cell_carcinoma | Whole gene deletion |
c.1_1302del1302; p.0?; 19:1206914-1226647 |
cervix | carcinoma; adenocarcinoma | Whole gene deletion |
c.879_880insA; p.P294fs*24; 19:1221965-1221966 |
cervix | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.454C>T; p.Q152*; 19:1219403-1219403 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.733C>T; p.L245F; 19:1220716-1220716 |
lung; middle_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.508C>T; p.Q170*; 19:1220416-1220416 |
skin | malignant_melanoma | Substitution - Nonsense |
c.710A>G; p.D237G; 19:1220693-1220693 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.169delG; p.E57fs*7; 19:1207078-1207078 |
lung | carcinoma; non_small_cell_carcinoma | Deletion - Frameshift |
c.169delG; p.E57fs*7; 19:1207078-1207078 |
lung | carcinoma; non_small_cell_carcinoma | Deletion - Frameshift |
c.508C>T; p.Q170*; 19:1220416-1220416 |
skin | malignant_melanoma | Substitution - Nonsense |
c.508C>T; p.Q170*; 19:1220416-1220416 |
skin | malignant_melanoma | Substitution - Nonsense |
c.169delG; p.E57fs*7; 19:1207078-1207078 |
lung | carcinoma; non_small_cell_carcinoma | Deletion - Frameshift |
c.169delG; p.E57fs*7; 19:1207078-1207078 |
lung | carcinoma; non_small_cell_carcinoma | Deletion - Frameshift |
c.508C>T; p.Q170*; 19:1220416-1220416 |
skin | malignant_melanoma | Substitution - Nonsense |
c.508C>T; p.Q170*; 19:1220416-1220416 |
skin | malignant_melanoma | Substitution - Nonsense |
c.508C>T; p.Q170*; 19:1220416-1220416 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.508C>T; p.Q170*; 19:1220416-1220416 |
skin | malignant_melanoma | Substitution - Nonsense |
c.835_836GG>TT; p.G279F; 19:1221313-1221314 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.169delG; p.E57fs*7; 19:1207078-1207078 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.508C>T; p.Q170*; 19:1220416-1220416 |
lung | carcinoma; bronchioloalveolar_adenocarcinoma | Substitution - Nonsense |
c.1274G>A; p.R425H; 19:1226619-1226619 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.751G>C; p.G251R; 19:1221229-1221229 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.145T>G; p.Y49D; 19:1207058-1207058 |
skin | malignant_melanoma | Substitution - Missense |
c.1062C>G; p.F354L; 19:1223126-1223126 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1062C>G; p.F354L; 19:1223126-1223126 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1062C>G; p.F354L; 19:1223126-1223126 |
breast | carcinoma | Substitution - Missense |
c.1062C>G; p.F354L; 19:1223126-1223126 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1062C>G; p.F354L; 19:1223126-1223126 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.1062C>G; p.F354L; 19:1223126-1223126 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1062C>G; p.F354L; 19:1223126-1223126 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.1062C>G; p.F354L; 19:1223126-1223126 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1062C>G; p.F354L; 19:1223126-1223126 |
lung | carcinoma; bronchioloalveolar_adenocarcinoma | Substitution - Missense |
c.1062C>G; p.F354L; 19:1223126-1223126 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1062C>G; p.F354L; 19:1223126-1223126 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.1062C>G; p.F354L; 19:1223126-1223126 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1062C>G; p.F354L; 19:1223126-1223126 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1062C>G; p.F354L; 19:1223126-1223126 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1062C>G; p.F354L; 19:1223126-1223126 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1062C>G; p.F354L; 19:1223126-1223126 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1062C>G; p.F354L; 19:1223126-1223126 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1062C>G; p.F354L; 19:1223126-1223126 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.1062C>G; p.F354L; 19:1223126-1223126 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1062C>G; p.F354L; 19:1223126-1223126 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1062C>G; p.F354L; 19:1223126-1223126 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1062C>G; p.F354L; 19:1223126-1223126 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1062C>G; p.F354L; 19:1223126-1223126 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1062C>G; p.F354L; 19:1223126-1223126 |
lung | carcinoma; bronchioloalveolar_adenocarcinoma | Substitution - Missense |
c.1062C>G; p.F354L; 19:1223126-1223126 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1062C>G; p.F354L; 19:1223126-1223126 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1062C>G; p.F354L; 19:1223126-1223126 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1062C>G; p.F354L; 19:1223126-1223126 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1062C>G; p.F354L; 19:1223126-1223126 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1062C>G; p.F354L; 19:1223126-1223126 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.10G>A; p.V4M; 19:1206923-1206923 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.130A>T; p.K44*; 19:1207043-1207043 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.322A>T; p.K108*; 19:1218448-1218448 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1050C>G; p.D350E; 19:1223114-1223114 |
oesophagus | carcinoma | Substitution - Missense |
c.291-1G>T; p.?; 19:1218416-1218416 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Unknown |
c.870T>A; p.L290L; 19:1221956-1221956 |
ovary | sex_cord-stromal_tumour; granulosa_cell_tumour | Substitution - coding silent |
c.291-1G>T; p.?; 19:1218416-1218416 |
lung | carcinoma; adenocarcinoma | Unknown |
c.647C>T; p.S216F; 19:1220630-1220630 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.647C>T; p.S216F; 19:1220630-1220630 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.647C>T; p.S216F; 19:1220630-1220630 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.487G>A; p.G163S; 19:1220395-1220395 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.863-2A>T; p.?; 19:1221947-1221947 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Unknown |
c.180delC; p.Y60fs*1; 19:1207093-1207093 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.143delA; p.K48fs*3; 19:1207056-1207056 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.180delC; p.Y60fs*1; 19:1207093-1207093 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.863-2A>T; p.?; 19:1221947-1221947 |
lung | carcinoma; adenocarcinoma | Unknown |
c.180delC; p.Y60fs*1; 19:1207093-1207093 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.936delA; p.K312fs*24; 19:1223000-1223000 |
pancreas | carcinoma; ductal_carcinoma | Deletion - Frameshift |
c.291-11_305del26; p.?; 19:1218406-1218431 |
cervix | carcinoma; squamous_cell_carcinoma | Unknown |
c.493G>T; p.E165*; 19:1220401-1220401 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.493G>T; p.E165*; 19:1220401-1220401 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.541A>T; p.N181Y; 19:1220449-1220449 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.598-3C>T; p.?; 19:1220578-1220578 |
lung | carcinoma; adenocarcinoma | Unknown |
c.479T>C; p.L160P; 19:1220387-1220387 |
cervix | adenoma_malignum | Substitution - Missense |
c.597+1G>T; p.?; 19:1220506-1220506 |
oesophagus | carcinoma; adenocarcinoma | Unknown |
c.691T>C; p.F231L; 19:1220674-1220674 |
cervix | adenoma_malignum | Substitution - Missense |
c.597+1G>T; p.?; 19:1220506-1220506 |
lung | carcinoma; adenocarcinoma | Unknown |
c.734+1G>T; p.?; 19:1220718-1220718 |
lung | carcinoma; adenocarcinoma | Unknown |
c.1039_1040insG; p.A347fs*13; 19:1223103-1223104 |
lung | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.734+1G>T; p.?; 19:1220718-1220718 |
lung | carcinoma; adenocarcinoma | Unknown |
c.526G>C; p.D176H; 19:1220434-1220434 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.734+1G>T; p.?; 19:1220718-1220718 |
lung | carcinoma; adenocarcinoma | Unknown |
c.1100C>T; p.T367M; 19:1223164-1223164 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.260G>A; p.R87K; 19:1207173-1207173 |
skin | malignant_melanoma | Substitution - Missense |
c.260G>A; p.R87K; 19:1207173-1207173 |
skin | malignant_melanoma | Substitution - Missense |
c.979_980insAG; p.D327fs*10; 19:1223043-1223044 |
lung | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.454C>A; p.Q152K; 19:1219403-1219403 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.628T>C; p.C210R; 19:1220611-1220611 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.707T>C; p.V236A; 19:1220690-1220690 |
skin | malignant_melanoma | Substitution - Missense |
c.630C>A; p.C210*; 19:1220613-1220613 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.42G>A; p.E14E; 19:1206955-1206955 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1105C>T; p.P369S; 19:1223169-1223169 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.595G>C; p.E199Q; 19:1220503-1220503 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.206C>A; p.S69*; 19:1207119-1207119 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.859A>T; p.K287*; 19:1221337-1221337 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1137C>A; p.H379Q; 19:1226482-1226482 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.206C>A; p.S69*; 19:1207119-1207119 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.180C>A; p.Y60*; 19:1207093-1207093 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.290+2T>G; p.?; 19:1207205-1207205 |
lung | carcinoma; adenocarcinoma | Unknown |
c.1049A>G; p.D350G; 19:1223113-1223113 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.232A>G; p.K78E; 19:1207145-1207145 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1240G>A; p.A414T; 19:1226585-1226585 |
pancreas | carcinoma | Substitution - Missense |
c.232A>G; p.K78E; 19:1207145-1207145 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.367C>T; p.Q123*; 19:1218493-1218493 |
breast | carcinoma | Substitution - Nonsense |
c.396C>A; p.C132*; 19:1219345-1219345 |
liver | carcinoma | Substitution - Nonsense |
c.367C>T; p.Q123*; 19:1218493-1218493 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.535C>T; p.P179S; 19:1220443-1220443 |
prostate | carcinoma | Substitution - Missense |
c.703A>T; p.K235*; 19:1220686-1220686 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.621C>G; p.D207E; 19:1220604-1220604 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.579delC; p.D194fs*93; 19:1220487-1220487 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.209delA; p.E70fs*26; 19:1207122-1207122 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.426C>T; p.S142S; 19:1219375-1219375 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.411G>A; p.Q137Q; 19:1219360-1219360 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1168G>A; p.V390M; 19:1226513-1226513 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.465-1G>T; p.?; 19:1220372-1220372 |
lung | carcinoma; adenocarcinoma | Unknown |
c.908T>G; p.I303S; 19:1221994-1221994 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.465-1G>T; p.?; 19:1220372-1220372 |
lung | carcinoma; adenocarcinoma | Unknown |
c.291-2A>T; p.?; 19:1218415-1218415 |
lung | carcinoma; adenocarcinoma | Unknown |
c.598-1G>T; p.?; 19:1220580-1220580 |
lung | carcinoma; adenocarcinoma | Unknown |
c.291-2A>T; p.?; 19:1218415-1218415 |
lung | carcinoma; adenocarcinoma | Unknown |
c.57G>T; p.S19S; 19:1206970-1206970 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.357C>T; p.N119N; 19:1218483-1218483 |
skin | malignant_melanoma | Substitution - coding silent |
c.522C>T; p.H174H; 19:1220430-1220430 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.522C>T; p.H174H; 19:1220430-1220430 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.583C>A; p.L195M; 19:1220491-1220491 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.921-1G>T; p.?; 19:1222984-1222984 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.920+1G>C; p.?; 19:1222007-1222007 |
oesophagus | carcinoma; adenocarcinoma | Unknown |
c.358G>T; p.E120*; 19:1218484-1218484 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.149T>G; p.L50R; 19:1207062-1207062 |
soft_tissue; fibrous_tissue_and_uncertain_o | alveolar_soft_part_sarcoma | Substitution - Missense |
c.358G>T; p.E120*; 19:1218484-1218484 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.228delC; p.V77fs*19; 19:1207141-1207141 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.358G>T; p.E120*; 19:1218484-1218484 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.455A>G; p.Q152R; 19:1219404-1219404 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.455A>G; p.Q152R; 19:1219404-1219404 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.120_130del11; p.K41fs*118; 19:1207033-1207043 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.455A>G; p.Q152R; 19:1219404-1219404 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.411_412GG>TT; p.Q137_E138>H*; 19:1219360-1219361 |
lung | carcinoma; adenocarcinoma | Complex - compound substitution |
c.318G>A; p.R106R; 19:1218444-1218444 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.735-1G>T; p.?; 19:1221212-1221212 |
lung | carcinoma; adenocarcinoma | Unknown |
c.735-1G>T; p.?; 19:1221212-1221212 |
lung | carcinoma; adenocarcinoma | Unknown |
c.579_580CG>AT; p.D194Y; 19:1220487-1220488 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.735-1G>T; p.?; 19:1221212-1221212 |
lung | carcinoma; adenocarcinoma | Unknown |
c.735-1G>T; p.?; 19:1221212-1221212 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Unknown |
c.290+2T>A; p.?; 19:1207205-1207205 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.511G>A; p.G171S; 19:1220419-1220419 |
large_intestine; colon | adenoma | Substitution - Missense |
c.511G>A; p.G171S; 19:1220419-1220419 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.829G>T; p.D277Y; 19:1221307-1221307 |
lung | carcinoma; mixed_adenosquamous_carcinoma | Substitution - Missense |
c.179A>G; p.Y60C; 19:1207092-1207092 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.465_597del133; p.Y156fs*87; 19:1220373-1220505 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.465_597del133; p.Y156fs*87; 19:1220373-1220505 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.465_597del133; p.Y156fs*87; 19:1220373-1220505 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.465_597del133; p.Y156fs*87; 19:1220373-1220505 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.181delG; p.G61fs*3; 19:1207094-1207094 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.465-2A>T; p.?; 19:1220371-1220371 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Unknown |
c.474T>G; p.C158W; 19:1220382-1220382 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.598-2A>T; p.?; 19:1220579-1220579 |
lung | carcinoma; adenocarcinoma | Unknown |
c.137T>C; p.I46T; 19:1207050-1207050 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.862+1G>T; p.?; 19:1221341-1221341 |
lung | carcinoma; adenocarcinoma | Unknown |
c.1_378del378; p.?; 19:1206914-1220460 |
skin; penis | carcinoma; squamous_cell_carcinoma | Unknown |
c.784A>T; p.K262*; 19:1221262-1221262 |
lung; middle_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1_378del378; p.?; 19:1206914-1220460 |
skin; penis | carcinoma; squamous_cell_carcinoma | Unknown |
c.233A>G; p.K78R; 19:1207146-1207146 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.503A>G; p.H168R; 19:1220411-1220411 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.110A>T; p.Q37L; 19:1207023-1207023 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.137T>C; p.I46T; 19:1207050-1207050 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1_378del378; p.?; 19:1206914-1220460 |
skin; penis | carcinoma; squamous_cell_carcinoma | Unknown |
c.126_149del24; p.A43_L50del; 19:1207039-1207062 |
lung | carcinoma; adenocarcinoma | Deletion - In frame |
c.264C>A; p.I88I; 19:1207177-1207177 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.910C>G; p.R304G; 19:1221996-1221996 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.910C>G; p.R304G; 19:1221996-1221996 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.735-2A>T; p.?; 19:1221211-1221211 |
lung | carcinoma; adenocarcinoma | Unknown |
c.941C>A; p.P314H; 19:1223005-1223005 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.256C>G; p.R86G; 19:1207169-1207169 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.509_509delA; p.Q170fs*117; 19:1220417-1220417 |
cervix | other; lobular_endocervical_glandular_hyperplasia | Deletion - Frameshift |
c.941C>A; p.P314H; 19:1223005-1223005 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.921-1G>A; p.?; 19:1222984-1222984 |
lung | carcinoma; adenocarcinoma | Unknown |
c.109C>A; p.Q37K; 19:1207022-1207022 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.520C>T; p.H174Y; 19:1220428-1220428 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.407_408TG>AT; p.M136N; 19:1219356-1219357 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.837delC; p.P281fs*6; 19:1221315-1221315 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.465-2A>G; p.?; 19:1220371-1220371 |
cervix | carcinoma; endocervical_adenocarcinoma | Unknown |
c.178_179insA; p.Y60fs*1; 19:1207091-1207092 |
breast | carcinoma | Insertion - Frameshift |
c.837delC; p.P281fs*6; 19:1221315-1221315 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.589G>A; p.V197M; 19:1220497-1220497 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.260G>T; p.R87M; 19:1207173-1207173 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1008_1009delTG; p.V337fs*22; 19:1223072-1223073 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - Frameshift |
c.646T>C; p.S216P; 19:1220629-1220629 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.167_168insTTCC; p.E57fs*107; 19:1207080-1207081 |
breast | carcinoma | Insertion - Frameshift |
c.152_153insG; p.D53fs*110; 19:1207065-1207066 |
lung | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.368A>G; p.Q123R; 19:1218494-1218494 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524A>T; p.K175M; 19:1220432-1220432 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.709G>T; p.D237Y; 19:1220692-1220692 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.544_546delCTG; p.L182del; 19:1220452-1220454 |
lung | carcinoma; adenocarcinoma | Deletion - In frame |
c.658C>T; p.Q220*; 19:1220641-1220641 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.167G>T; p.G56V; 19:1207080-1207080 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.658C>T; p.Q220*; 19:1220641-1220641 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.658C>T; p.Q220*; 19:1220641-1220641 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.658C>T; p.Q220*; 19:1220641-1220641 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.644G>A; p.G215D; 19:1220627-1220627 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.184A>T; p.K62*; 19:1207097-1207097 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.205T>C; p.S69P; 19:1207118-1207118 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.921-10G>A; p.?; 19:1222975-1222975 |
cervix | adenoma_malignum | Unknown |
c.1276C>T; p.R426W; 19:1226621-1226621 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.184A>T; p.K62*; 19:1207097-1207097 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.536C>T; p.P179L; 19:1220444-1220444 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1A>G; p.M1V; 19:1206914-1206914 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.532A>T; p.K178*; 19:1220440-1220440 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Nonsense |
c.810delG; p.S271fs*16; 19:1221288-1221288 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.765_766CG>TT; p.F255>?; 19:1221243-1221244 |
lung | carcinoma; adenocarcinoma | Complex |
c.528C>T; p.D176D; 19:1220436-1220436 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.465_862del398; p.?; 19:1220373-1221340 |
lung | carcinoma; non_small_cell_carcinoma | Unknown |
c.465_862del398; p.?; 19:1220373-1221340 |
lung | carcinoma; non_small_cell_carcinoma | Unknown |
c.127_128insGG; p.A43fs*9; 19:1207040-1207041 |
lung | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.148_159del12; p.L50_D53del; 19:1207061-1207072 |
lung | carcinoma; adenocarcinoma | Deletion - In frame |
c.814T>C; p.Y272H; 19:1221292-1221292 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.787_790delTTGT; p.F264fs*22; 19:1221265-1221268 |
gastrointestinal_tract_(site_indeterminate) | other; hamartoma | Deletion - Frameshift |
c.787_790delTTGT; p.F264fs*22; 19:1221265-1221268 |
gastrointestinal_tract_(site_indeterminate) | other; hamartoma | Deletion - Frameshift |
c.787_790delTTGT; p.F264fs*22; 19:1221265-1221268 |
gastrointestinal_tract_(site_indeterminate) | other; hamartoma | Deletion - Frameshift |
c.787_790delTTGT; p.F264fs*22; 19:1221265-1221268 |
gastrointestinal_tract_(site_indeterminate) | other; hamartoma | Deletion - Frameshift |
c.996G>A; p.W332*; 19:1223060-1223060 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.996G>A; p.W332*; 19:1223060-1223060 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.165_166insT; p.G56fs*107; 19:1207078-1207079 |
lung | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1198C>T; p.L400L; 19:1226543-1226543 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.735_862del128; p.Y246fs*3; 19:1221213-1221340 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.129delC; p.K44fs*7; 19:1207042-1207042 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.527A>C; p.D176A; 19:1220435-1220435 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.180C>T; p.Y60Y; 19:1207093-1207093 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.409C>T; p.Q137*; 19:1219358-1219358 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.170A>G; p.E57G; 19:1207083-1207083 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.180C>T; p.Y60Y; 19:1207093-1207093 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.650_651insC; p.A218fs*48; 19:1220633-1220634 |
gastrointestinal_tract_(site_indeterminate) | other; hamartoma | Insertion - Frameshift |
c.613G>A; p.A205T; 19:1220596-1220596 |
upper_aerodigestive_tract; sinonasal_and_nasal_cavity | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.171A>G; p.E57E; 19:1207084-1207084 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.724G>C; p.G242R; 19:1220707-1220707 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.622G>A; p.D208N; 19:1220605-1220605 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.333C>T; p.I111I; 19:1218459-1218459 |
skin | malignant_melanoma | Substitution - coding silent |
c.1208A>T; p.K403I; 19:1226553-1226553 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.256C>A; p.R86R; 19:1207169-1207169 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.735-2A>G; p.?; 19:1221211-1221211 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.735-2A>G; p.?; 19:1221211-1221211 |
large_intestine; caecum | carcinoma; adenocarcinoma | Unknown |
c.735-2A>G; p.?; 19:1221211-1221211 |
large_intestine; caecum | carcinoma; adenocarcinoma | Unknown |
c.735-2A>G; p.?; 19:1221211-1221211 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.735-2A>G; p.?; 19:1221211-1221211 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.957_958AG>T; p.V320fs*16; 19:1223021-1223022 |
cervix | carcinoma; adenocarcinoma | Complex - frameshift |
c.1190C>T; p.A397V; 19:1226535-1226535 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.648C>T; p.S216S; 19:1220631-1220631 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1190C>T; p.A397V; 19:1226535-1226535 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.667G>T; p.E223*; 19:1220650-1220650 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.667G>T; p.E223*; 19:1220650-1220650 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.945G>A; p.P315P; 19:1223009-1223009 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1167C>T; p.A389A; 19:1226512-1226512 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.657C>T; p.F219F; 19:1220640-1220640 |
breast | carcinoma; HER-positive_carcinoma | Substitution - coding silent |
c.97G>T; p.E33*; 19:1207010-1207010 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1117C>T; p.P373S; 19:1226462-1226462 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.196G>A; p.V66M; 19:1207109-1207109 |
cervix | adenoma_malignum | Substitution - Missense |
c.196G>A; p.V66M; 19:1207109-1207109 |
cervix | adenoma_malignum | Substitution - Missense |
c.145T>C; p.Y49H; 19:1207058-1207058 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.725G>T; p.G242V; 19:1220708-1220708 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.97G>T; p.E33*; 19:1207010-1207010 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.827delG; p.G276fs*11; 19:1221305-1221305 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.751_752GG>TT; p.G251F; 19:1221229-1221230 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.334C>T; p.Q112*; 19:1218460-1218460 |
skin | malignant_melanoma | Substitution - Nonsense |
c.168G>T; p.G56G; 19:1207081-1207081 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.45C>T; p.G15G; 19:1206958-1206958 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.475C>T; p.Q159*; 19:1220383-1220383 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.475C>T; p.Q159*; 19:1220383-1220383 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.530T>C; p.I177T; 19:1220438-1220438 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.475C>T; p.Q159*; 19:1220383-1220383 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.403G>C; p.G135R; 19:1219352-1219352 |
skin | malignant_melanoma | Substitution - Missense |
c.891G>C; p.R297S; 19:1221977-1221977 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.610_623del14; p.F204fs*57; 19:1220593-1220606 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.563delG; p.G188fs*99; 19:1220471-1220471 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.250A>T; p.K84*; 19:1207163-1207163 |
pancreas | carcinoma | Substitution - Nonsense |
c.194A>G; p.E65G; 19:1207107-1207107 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.752G>T; p.G251V; 19:1221230-1221230 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.166G>T; p.G56W; 19:1207079-1207079 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.166G>T; p.G56W; 19:1207079-1207079 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.166_178del13; p.G56fs*4; 19:1207079-1207091 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.584_585insT; p.V197fs*69; 19:1220492-1220493 |
lung | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.802delG; p.K269fs*18; 19:1221280-1221280 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.894C>A; p.F298L; 19:1221980-1221980 |
cervix | carcinoma; adenocarcinoma | Substitution - Missense |
c.581A>T; p.D194V; 19:1220489-1220489 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.802G>A; p.G268R; 19:1221280-1221280 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.649_650insG; p.P217fs*49; 19:1220632-1220633 |
lung | carcinoma; bronchioloalveolar_adenocarcinoma | Insertion - Frameshift |
c.465-1G>A; p.?; 19:1220372-1220372 |
lung | carcinoma; adenocarcinoma | Unknown |
c.431delC; p.P144fs*17; 19:1219380-1219380 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.379-5C>G; p.?; 19:1219323-1219323 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.40G>A; p.E14K; 19:1206953-1206953 |
cervix | adenoma_malignum | Substitution - Missense |
c.595G>T; p.E199*; 19:1220503-1220503 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.206C>T; p.S69L; 19:1207119-1207119 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.595G>T; p.E199*; 19:1220503-1220503 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.842C>T; p.P281L; 19:1221320-1221320 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.842C>T; p.P281L; 19:1221320-1221320 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.842C>T; p.P281L; 19:1221320-1221320 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.842C>T; p.P281L; 19:1221320-1221320 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.842C>T; p.P281L; 19:1221320-1221320 |
large_intestine; rectum | adenoma | Substitution - Missense |
c.842C>T; p.P281L; 19:1221320-1221320 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.842C>T; p.P281L; 19:1221320-1221320 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.842C>T; p.P281L; 19:1221320-1221320 |
ovary | carcinoma; clear_cell_carcinoma | Substitution - Missense |
c.842C>T; p.P281L; 19:1221320-1221320 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.842C>T; p.P281L; 19:1221320-1221320 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.432_433GG>TT; p.P144>?; 19:1219381-1219382 |
lung | carcinoma; adenocarcinoma | Complex |
c.842C>T; p.P281L; 19:1221320-1221320 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.580G>T; p.D194Y; 19:1220488-1220488 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.580G>T; p.D194Y; 19:1220488-1220488 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.580G>T; p.D194Y; 19:1220488-1220488 |
skin | malignant_melanoma | Substitution - Missense |
c.580G>T; p.D194Y; 19:1220488-1220488 |
skin | malignant_melanoma | Substitution - Missense |
c.724G>T; p.G242W; 19:1220707-1220707 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.580G>T; p.D194Y; 19:1220488-1220488 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.580G>T; p.D194Y; 19:1220488-1220488 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.580G>T; p.D194Y; 19:1220488-1220488 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.842delC; p.P281fs*6; 19:1221320-1221320 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.842delC; p.P281fs*6; 19:1221320-1221320 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.842delC; p.P281fs*6; 19:1221320-1221320 |
lung | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.842delC; p.P281fs*6; 19:1221320-1221320 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.842delC; p.P281fs*6; 19:1221320-1221320 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.842delC; p.P281fs*6; 19:1221320-1221320 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.842delC; p.P281fs*6; 19:1221320-1221320 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.957A>G; p.P319P; 19:1223021-1223021 |
large_intestine; rectum | NS | Substitution - coding silent |
c.908T>A; p.I303N; 19:1221994-1221994 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.539G>T; p.G180V; 19:1220447-1220447 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1050C>T; p.D350D; 19:1223114-1223114 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1050C>T; p.D350D; 19:1223114-1223114 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - coding silent |
c.578C>T; p.S193F; 19:1220486-1220486 |
skin | malignant_melanoma | Substitution - Missense |
c.108C>A; p.Y36*; 19:1207021-1207021 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.1041G>A; p.A347A; 19:1223105-1223105 |
bone; extraskeletal | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.1165G>A; p.A389T; 19:1226510-1226510 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.109C>T; p.Q37*; 19:1207022-1207022 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.109C>T; p.Q37*; 19:1207022-1207022 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.109C>T; p.Q37*; 19:1207022-1207022 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.109C>T; p.Q37*; 19:1207022-1207022 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.258A>G; p.R86R; 19:1207171-1207171 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.109C>T; p.Q37*; 19:1207022-1207022 |
lung | carcinoma; large_cell_carcinoma | Substitution - Nonsense |
c.109C>T; p.Q37*; 19:1207022-1207022 |
lung | carcinoma; large_cell_carcinoma | Substitution - Nonsense |
c.109C>T; p.Q37*; 19:1207022-1207022 |
lung | carcinoma; large_cell_carcinoma | Substitution - Nonsense |
c.109C>T; p.Q37*; 19:1207022-1207022 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.643_645GGC>AGT; p.G215S; 19:1220626-1220628 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.109C>T; p.Q37*; 19:1207022-1207022 |
lung | carcinoma; bronchioloalveolar_adenocarcinoma | Substitution - Nonsense |
c.109C>T; p.Q37*; 19:1207022-1207022 |
lung | carcinoma; bronchioloalveolar_adenocarcinoma | Substitution - Nonsense |
c.109C>T; p.Q37*; 19:1207022-1207022 |
stomach | carcinoma | Substitution - Nonsense |
c.109C>T; p.Q37*; 19:1207022-1207022 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.109C>T; p.Q37*; 19:1207022-1207022 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.165delG; p.E57fs*7; 19:1207078-1207078 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1090C>T; p.Q364*; 19:1223154-1223154 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.580G>A; p.D194N; 19:1220488-1220488 |
small_intestine; duodenum | carcinoma; adenocarcinoma | Substitution - Missense |
c.597G>C; p.E199D; 19:1220505-1220505 |
pancreas | other; dysplasia-in_situ_neoplasm | Substitution - Missense |
c.597G>C; p.E199D; 19:1220505-1220505 |
pancreas | other; dysplasia-in_situ_neoplasm | Substitution - Missense |
c.580G>A; p.D194N; 19:1220488-1220488 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.153delG; p.D53fs*11; 19:1207066-1207066 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.153delG; p.D53fs*11; 19:1207066-1207066 |
lung | carcinoma; large_cell_carcinoma | Deletion - Frameshift |
c.984C>T; p.T328T; 19:1223048-1223048 |
skin | malignant_melanoma | Substitution - coding silent |
c.793G>T; p.E265*; 19:1221271-1221271 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.598-1G>A; p.?; 19:1220580-1220580 |
lung | carcinoma; adenocarcinoma | Unknown |
c.598-1G>A; p.?; 19:1220580-1220580 |
lung | carcinoma; adenocarcinoma | Unknown |
c.971C>T; p.P324L; 19:1223035-1223035 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.436A>T; p.K146*; 19:1219385-1219385 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.271_272GG>TT; p.G91L; 19:1207184-1207185 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.56C>A; p.S19*; 19:1206969-1206969 |
cervix | carcinoma; mixed_adenosquamous_carcinoma | Substitution - Nonsense |
c.1048G>A; p.D350N; 19:1223112-1223112 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.102C>T; p.V34V; 19:1207015-1207015 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - coding silent |
c.224G>T; p.R75M; 19:1207137-1207137 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.608C>T; p.P203L; 19:1220591-1220591 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.654T>C; p.A218A; 19:1220637-1220637 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.521A>G; p.H174R; 19:1220429-1220429 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1257C>T; p.S419S; 19:1226602-1226602 |
pancreas | carcinoma; ductal_carcinoma | Substitution - coding silent |
c.923G>T; p.W308L; 19:1222987-1222987 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.208G>A; p.E70K; 19:1207121-1207121 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.889A>G; p.R297G; 19:1221975-1221975 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.264C>G; p.I88M; 19:1207177-1207177 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.274G>A; p.E92K; 19:1207187-1207187 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.396C>T; p.C132C; 19:1219345-1219345 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.842_843insC; p.L282fs*3; 19:1221320-1221321 |
lung | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.842_843insC; p.L282fs*3; 19:1221320-1221321 |
lung | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.17C>A; p.P6Q; 19:1206930-1206930 |
cervix | carcinoma; mixed_adenosquamous_carcinoma | Substitution - Missense |
c.842_843insC; p.L282fs*3; 19:1221320-1221321 |
lung | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.526G>T; p.D176Y; 19:1220434-1220434 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.717G>T; p.W239C; 19:1220700-1220700 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.509A>G; p.Q170R; 19:1220417-1220417 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.717G>T; p.W239C; 19:1220700-1220700 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.509A>G; p.Q170R; 19:1220417-1220417 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.488G>A; p.G163D; 19:1220396-1220396 |
testis | germ_cell_tumour; mixed | Substitution - Missense |
c.717G>T; p.W239C; 19:1220700-1220700 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.595G>A; p.E199K; 19:1220503-1220503 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.208G>T; p.E70*; 19:1207121-1207121 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.208G>T; p.E70*; 19:1207121-1207121 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.542A>T; p.N181I; 19:1220450-1220450 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.208G>T; p.E70*; 19:1207121-1207121 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.180C>G; p.Y60*; 19:1207093-1207093 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.598-13del22; p.?; 19:1220568-1220589 |
lung | carcinoma; adenocarcinoma | Unknown |
c.816C>T; p.Y272Y; 19:1221294-1221294 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.816C>T; p.Y272Y; 19:1221294-1221294 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.816C>T; p.Y272Y; 19:1221294-1221294 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.816C>T; p.Y272Y; 19:1221294-1221294 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.709_709delG; p.D237fs*50; 19:1220692-1220692 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.650delC; p.P217fs*70; 19:1220633-1220633 |
pancreas | carcinoma; ductal_carcinoma | Deletion - Frameshift |
c.193G>T; p.E65*; 19:1207106-1207106 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.650delC; p.P217fs*70; 19:1220633-1220633 |
pancreas | other; dysplasia-in_situ_neoplasm | Deletion - Frameshift |
c.1225C>T; p.R409W; 19:1226570-1226570 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.1193C>T; p.A398V; 19:1226538-1226538 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.169G>T; p.E57*; 19:1207082-1207082 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.513C>T; p.G171G; 19:1220421-1220421 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - coding silent |
c.662C>T; p.P221L; 19:1220645-1220645 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.256C>T; p.R86*; 19:1207169-1207169 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.96C>G; p.T32T; 19:1207009-1207009 |
cervix | adenoma_malignum | Substitution - coding silent |
c.96C>G; p.T32T; 19:1207009-1207009 |
small_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.128delC; p.K44fs*7; 19:1207041-1207041 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1226G>A; p.R409Q; 19:1226571-1226571 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.487G>T; p.G163C; 19:1220395-1220395 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1226G>A; p.R409Q; 19:1226571-1226571 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1226G>A; p.R409Q; 19:1226571-1226571 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1226G>A; p.R409Q; 19:1226571-1226571 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1226G>A; p.R409Q; 19:1226571-1226571 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1226G>A; p.R409Q; 19:1226571-1226571 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.320A>G; p.H107R; 19:1218446-1218446 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |