| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 7058 |
Name | THBS2 |
Synonymous | thrombospondin 2;THBS2;thrombospondin 2 |
Definition | thrombospondin-2 |
Position | 6q27 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.2100G>T; p.W700C; 6:169232031-169232031 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Substitution - Missense |
c.2039G>A; p.C680Y; 6:169232092-169232092 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.2697T>C; p.D899D; 6:169225221-169225221 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1288T>G; p.C430G; 6:169237637-169237637 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2400C>T; p.S800S; 6:169228141-169228141 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1268G>A; p.R423Q; 6:169237657-169237657 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3364T>C; p.Y1122H; 6:169221437-169221437 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1020G>T; p.T340T; 6:169240464-169240464 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.298C>T; p.L100L; 6:169248728-169248728 |
skin | malignant_melanoma | Substitution - coding silent |
c.1241C>G; p.T414S; 6:169237684-169237684 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2212G>A; p.D738N; 6:169229619-169229619 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.789C>T; p.P263P; 6:169241864-169241864 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.730C>T; p.L244L; 6:169241923-169241923 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.454G>A; p.V152I; 6:169248572-169248572 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.345C>T; p.I115I; 6:169248681-169248681 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2159G>A; p.C720Y; 6:169229672-169229672 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.345C>T; p.I115I; 6:169248681-169248681 |
skin | malignant_melanoma | Substitution - coding silent |
c.345C>T; p.I115I; 6:169248681-169248681 |
skin | malignant_melanoma | Substitution - coding silent |
c.345C>T; p.I115I; 6:169248681-169248681 |
skin | malignant_melanoma | Substitution - coding silent |
c.2679C>T; p.G893G; 6:169225239-169225239 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.373G>T; p.D125Y; 6:169248653-169248653 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1173C>T; p.T391T; 6:169237752-169237752 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.1173C>T; p.T391T; 6:169237752-169237752 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2007C>A; p.G669G; 6:169232124-169232124 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.244G>T; p.E82*; 6:169248782-169248782 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Nonsense |
c.1874G>A; p.R625Q; 6:169232722-169232722 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.47C>T; p.T16M; 6:169250738-169250738 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2859C>A; p.A953A; 6:169223390-169223390 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2892G>A; p.M964I; 6:169223357-169223357 |
liver | carcinoma | Substitution - Missense |
c.3450G>A; p.L1150L; 6:169220259-169220259 |
skin | malignant_melanoma | Substitution - coding silent |
c.2892G>A; p.M964I; 6:169223357-169223357 |
liver | carcinoma | Substitution - Missense |
c.2780G>T; p.G927V; 6:169223469-169223469 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.813G>A; p.E271E; 6:169241840-169241840 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1880G>A; p.R627K; 6:169232716-169232716 |
skin | malignant_melanoma | Substitution - Missense |
c.624C>T; p.N208N; 6:169246267-169246267 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2891T>A; p.M964K; 6:169223358-169223358 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.427G>A; p.G143S; 6:169248599-169248599 |
pancreas | carcinoma | Substitution - Missense |
c.2905C>A; p.P969T; 6:169223344-169223344 |
liver | carcinoma | Substitution - Missense |
c.191C>T; p.P64L; 6:169248835-169248835 |
skin | malignant_melanoma | Substitution - Missense |
c.795G>T; p.V265V; 6:169241858-169241858 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2167C>G; p.L723V; 6:169229664-169229664 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2712C>T; p.G904G; 6:169225206-169225206 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.418G>A; p.E140K; 6:169248608-169248608 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2167C>G; p.L723V; 6:169229664-169229664 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1584C>A; p.Y528*; 6:169234801-169234801 |
kidney | carcinoma; renal_cell_carcinoma | Substitution - Nonsense |
c.1333C>T; p.P445S; 6:169237314-169237314 |
skin | malignant_melanoma | Substitution - Missense |
c.953C>G; p.S318*; 6:169240531-169240531 |
skin | malignant_melanoma | Substitution - Nonsense |
c.463C>A; p.Q155K; 6:169248563-169248563 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1127A>G; p.H376R; 6:169239601-169239601 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1818G>A; p.K606K; 6:169232778-169232778 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.1818G>A; p.K606K; 6:169232778-169232778 |
liver | carcinoma | Substitution - coding silent |
c.1868C>T; p.P623L; 6:169232728-169232728 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.391G>A; p.D131N; 6:169248635-169248635 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2944C>T; p.R982C; 6:169223305-169223305 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2944C>T; p.R982C; 6:169223305-169223305 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.369G>A; p.T123T; 6:169248657-169248657 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3472G>A; p.E1158K; 6:169220237-169220237 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.771delC; p.S258fs*30; 6:169241882-169241882 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.556G>T; p.E186*; 6:169248470-169248470 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.556G>T; p.E186*; 6:169248470-169248470 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.908T>G; p.F303C; 6:169240576-169240576 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.1916C>A; p.A639D; 6:169232680-169232680 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1582T>C; p.Y528H; 6:169234803-169234803 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1069C>T; p.P357S; 6:169239659-169239659 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2520G>T; p.L840L; 6:169226198-169226198 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.260C>T; p.T87M; 6:169248766-169248766 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1648G>A; p.V550M; 6:169234737-169234737 |
pancreas | carcinoid-endocrine_tumour | Substitution - Missense |
c.734G>C; p.R245P; 6:169241919-169241919 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.1986C>T; p.H662H; 6:169232145-169232145 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2344G>A; p.V782M; 6:169228197-169228197 |
pancreas | carcinoma | Substitution - Missense |
c.485G>A; p.S162N; 6:169248541-169248541 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2463T>C; p.T821T; 6:169226255-169226255 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.565C>T; p.R189W; 6:169248461-169248461 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.466G>A; p.V156M; 6:169248560-169248560 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3449T>C; p.L1150P; 6:169220260-169220260 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.432G>A; p.L144L; 6:169248594-169248594 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.2059G>A; p.D687N; 6:169232072-169232072 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.906G>T; p.Q302H; 6:169240578-169240578 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1188G>A; p.T396T; 6:169237737-169237737 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.354C>T; p.N118N; 6:169248672-169248672 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.75G>A; p.T25T; 6:169248951-169248951 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.935C>T; p.P312L; 6:169240549-169240549 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3221C>T; p.T1074M; 6:169222249-169222249 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3165G>A; p.T1055T; 6:169222305-169222305 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2324G>A; p.R775H; 6:169228217-169228217 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1623G>T; p.Q541H; 6:169234762-169234762 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.856C>T; p.L286F; 6:169241797-169241797 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.144C>T; p.P48P; 6:169248882-169248882 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2094C>A; p.D698E; 6:169232037-169232037 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.393C>T; p.D131D; 6:169248633-169248633 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - coding silent |
c.393C>T; p.D131D; 6:169248633-169248633 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2061C>T; p.D687D; 6:169232070-169232070 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.393C>T; p.D131D; 6:169248633-169248633 |
breast | carcinoma | Substitution - coding silent |
c.2061C>T; p.D687D; 6:169232070-169232070 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2061C>T; p.D687D; 6:169232070-169232070 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.507C>T; p.L169L; 6:169248519-169248519 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2061C>T; p.D687D; 6:169232070-169232070 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.52+1G>A; p.?; 6:169250732-169250732 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.52+1G>A; p.?; 6:169250732-169250732 |
large_intestine; rectum | carcinoma; adenocarcinoma | Unknown |
c.3255G>A; p.T1085T; 6:169222215-169222215 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.840C>A; p.L280L; 6:169241813-169241813 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2242G>A; p.G748S; 6:169229589-169229589 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.401G>A; p.R134Q; 6:169248625-169248625 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.52+1G>A; p.?; 6:169250732-169250732 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.401G>A; p.R134Q; 6:169248625-169248625 |
peritoneum; appendix | other; pseudomyxoma_peritonei | Substitution - Missense |
c.1378C>T; p.R460C; 6:169237269-169237269 |
thyroid | carcinoma | Substitution - Missense |
c.3255G>A; p.T1085T; 6:169222215-169222215 |
pancreas | carcinoma | Substitution - coding silent |
c.566G>C; p.R189P; 6:169248460-169248460 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.811G>A; p.E271K; 6:169241842-169241842 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.176G>A; p.R59H; 6:169248850-169248850 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.176G>A; p.R59H; 6:169248850-169248850 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1245C>T; p.C415C; 6:169237680-169237680 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1756A>T; p.T586S; 6:169232913-169232913 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.201C>T; p.N67N; 6:169248825-169248825 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.138C>A; p.R46R; 6:169248888-169248888 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1812C>T; p.T604T; 6:169232784-169232784 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3220A>T; p.T1074S; 6:169222250-169222250 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.213C>T; p.L71L; 6:169248813-169248813 |
breast | carcinoma | Substitution - coding silent |
c.216C>T; p.S72S; 6:169248810-169248810 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2034C>T; p.C678C; 6:169232097-169232097 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2034C>T; p.C678C; 6:169232097-169232097 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3189_3190insG; p.S1064fs*48; 6:169222280-169222281 |
ovary | carcinoma; serous_carcinoma | Insertion - Frameshift |
c.2034C>T; p.C678C; 6:169232097-169232097 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1102G>A; p.G368S; 6:169239626-169239626 |
oesophagus | carcinoma | Substitution - Missense |
c.2847T>G; p.P949P; 6:169223402-169223402 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2847T>G; p.P949P; 6:169223402-169223402 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2827G>T; p.D943Y; 6:169223422-169223422 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2599G>A; p.D867N; 6:169225319-169225319 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1950C>G; p.N650K; 6:169232181-169232181 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.973C>T; p.R325W; 6:169240511-169240511 |
pancreas | carcinoma | Substitution - Missense |
c.2658C>T; p.D886D; 6:169225260-169225260 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.267G>A; p.Q89Q; 6:169248759-169248759 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3059G>A; p.R1020Q; 6:169222411-169222411 |
liver | carcinoma | Substitution - Missense |
c.3059G>A; p.R1020Q; 6:169222411-169222411 |
liver | carcinoma | Substitution - Missense |
c.1422G>C; p.K474N; 6:169237225-169237225 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2487C>T; p.D829D; 6:169226231-169226231 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.656A>G; p.D219G; 6:169246235-169246235 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1081G>A; p.A361T; 6:169239647-169239647 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2260-1G>A; p.?; 6:169228282-169228282 |
skin | malignant_melanoma | Unknown |
c.3254C>T; p.T1085M; 6:169222216-169222216 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1206G>A; p.Q402Q; 6:169237719-169237719 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3223G>A; p.G1075S; 6:169222247-169222247 |
skin; trunk | malignant_melanoma; nodular | Substitution - Missense |
c.255C>T; p.F85F; 6:169248771-169248771 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1369A>T; p.N457Y; 6:169237278-169237278 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.243G>A; p.K81K; 6:169248783-169248783 |
skin | malignant_melanoma | Substitution - coding silent |
c.1617G>A; p.E539E; 6:169234768-169234768 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.1484G>T; p.G495V; 6:169234901-169234901 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.547C>T; p.L183L; 6:169248479-169248479 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.777G>A; p.S259S; 6:169241876-169241876 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.894G>A; p.S298S; 6:169240590-169240590 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1183G>A; p.V395M; 6:169237742-169237742 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1519A>G; p.T507A; 6:169234866-169234866 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.296C>T; p.T99M; 6:169248730-169248730 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.296C>T; p.T99M; 6:169248730-169248730 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3435C>T; p.Y1145Y; 6:169220274-169220274 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2096G>T; p.G699V; 6:169232035-169232035 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3042C>G; p.F1014L; 6:169222428-169222428 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3241G>A; p.A1081T; 6:169222229-169222229 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1257C>G; p.S419S; 6:169237668-169237668 |
breast | carcinoma | Substitution - coding silent |
c.1257C>G; p.S419S; 6:169237668-169237668 |
thyroid | other; neoplasm | Substitution - coding silent |
c.2333A>G; p.N778S; 6:169228208-169228208 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1990G>A; p.E664K; 6:169232141-169232141 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3372-3delT; p.?; 6:169220340-169220340 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.1257C>G; p.S419S; 6:169237668-169237668 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1257C>G; p.S419S; 6:169237668-169237668 |
thyroid | other; neoplasm | Substitution - coding silent |
c.2905C>T; p.P969S; 6:169223344-169223344 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2905C>T; p.P969S; 6:169223344-169223344 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.541G>A; p.E181K; 6:169248485-169248485 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.3107G>A; p.R1036H; 6:169222363-169222363 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.3107G>A; p.R1036H; 6:169222363-169222363 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.541G>A; p.E181K; 6:169248485-169248485 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.798C>T; p.C266C; 6:169241855-169241855 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1990G>T; p.E664*; 6:169232141-169232141 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1379G>A; p.R460H; 6:169237268-169237268 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1379G>A; p.R460H; 6:169237268-169237268 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2776G>A; p.D926N; 6:169223473-169223473 |
skin | malignant_melanoma | Substitution - Missense |
c.1385G>A; p.R462H; 6:169237262-169237262 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3501C>T; p.Y1167Y; 6:169220208-169220208 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1385G>A; p.R462H; 6:169237262-169237262 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.3340C>G; p.L1114V; 6:169221461-169221461 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2094C>T; p.D698D; 6:169232037-169232037 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1157C>T; p.P386L; 6:169237768-169237768 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1008C>A; p.D336E; 6:169240476-169240476 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.566G>A; p.R189Q; 6:169248460-169248460 |
large_intestine; rectum | NS | Substitution - Missense |
c.3064G>A; p.D1022N; 6:169222406-169222406 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.82G>A; p.D28N; 6:169248944-169248944 |
skin | malignant_melanoma | Substitution - Missense |
c.171C>T; p.F57F; 6:169248855-169248855 |
skin | malignant_melanoma | Substitution - coding silent |
c.874G>A; p.E292K; 6:169241779-169241779 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.171C>T; p.F57F; 6:169248855-169248855 |
skin | malignant_melanoma | Substitution - coding silent |
c.853G>A; p.V285I; 6:169241800-169241800 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2901G>A; p.L967L; 6:169223348-169223348 |
skin | malignant_melanoma | Substitution - coding silent |
c.1555C>T; p.R519W; 6:169234830-169234830 |
skin | malignant_melanoma | Substitution - Missense |
c.2858C>T; p.A953V; 6:169223391-169223391 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2879G>C; p.R960T; 6:169223370-169223370 |
liver | carcinoma | Substitution - Missense |
c.1469C>T; p.P490L; 6:169237178-169237178 |
skin; scalp | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1304G>A; p.R435Q; 6:169237343-169237343 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.140G>A; p.G47E; 6:169248886-169248886 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.96C>A; p.I32I; 6:169248930-169248930 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.2361G>C; p.Q787H; 6:169228180-169228180 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.2589C>T; p.D863D; 6:169225329-169225329 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.2484T>A; p.G828G; 6:169226234-169226234 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.363G>A; p.A121A; 6:169248663-169248663 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.876G>A; p.E292E; 6:169241777-169241777 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.876G>A; p.E292E; 6:169241777-169241777 |
skin | malignant_melanoma | Substitution - coding silent |
c.1599C>A; p.C533*; 6:169234786-169234786 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.270C>G; p.L90L; 6:169248756-169248756 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.650T>C; p.V217A; 6:169246241-169246241 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1865G>A; p.C622Y; 6:169232731-169232731 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.181G>A; p.D61N; 6:169248845-169248845 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1265C>A; p.T422K; 6:169237660-169237660 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3362G>C; p.G1121A; 6:169221439-169221439 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1902C>A; p.V634V; 6:169232694-169232694 |
liver | carcinoma | Substitution - coding silent |
c.2434C>T; p.R812*; 6:169226284-169226284 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.3150G>T; p.W1050C; 6:169222320-169222320 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1902C>A; p.V634V; 6:169232694-169232694 |
liver | carcinoma | Substitution - coding silent |
c.2434C>T; p.R812*; 6:169226284-169226284 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2582_2584delACG; p.N861_E862>K; 6:169225334-169225336 |
lung | carcinoma; adenocarcinoma | Complex - deletion inframe |
c.1872C>A; p.P624P; 6:169232724-169232724 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.554C>T; p.A185V; 6:169248472-169248472 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2434C>T; p.R812*; 6:169226284-169226284 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.279C>T; p.D93D; 6:169248747-169248747 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1792C>T; p.P598S; 6:169232804-169232804 |
skin; scalp | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1511C>T; p.S504L; 6:169234874-169234874 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1223G>C; p.C408S; 6:169237702-169237702 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.502G>A; p.D168N; 6:169248524-169248524 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.502G>A; p.D168N; 6:169248524-169248524 |
skin | malignant_melanoma | Substitution - Missense |
c.502G>A; p.D168N; 6:169248524-169248524 |
skin | malignant_melanoma | Substitution - Missense |
c.1679C>T; p.P560L; 6:169232990-169232990 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3075C>T; p.A1025A; 6:169222395-169222395 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2054C>T; p.A685V; 6:169232077-169232077 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2053G>A; p.A685T; 6:169232078-169232078 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2053G>A; p.A685T; 6:169232078-169232078 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2990G>T; p.G997V; 6:169223259-169223259 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.2185G>C; p.E729Q; 6:169229646-169229646 |
ovary | carcinoma; clear_cell_carcinoma | Substitution - Missense |
c.1780-3C>T; p.?; 6:169232819-169232819 |
liver | carcinoma | Unknown |
c.1818G>T; p.K606N; 6:169232778-169232778 |
pancreas | carcinoma | Substitution - Missense |
c.3469C>A; p.Q1157K; 6:169220240-169220240 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2464G>A; p.D822N; 6:169226254-169226254 |
breast | carcinoma | Substitution - Missense |
c.2317G>T; p.G773W; 6:169228224-169228224 |
ovary | other; neoplasm | Substitution - Missense |
c.3472G>T; p.E1158*; 6:169220237-169220237 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1945G>A; p.E649K; 6:169232186-169232186 |
pancreas | carcinoma | Substitution - Missense |
c.2706C>T; p.N902N; 6:169225212-169225212 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.153C>T; p.G51G; 6:169248873-169248873 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2776G>T; p.D926Y; 6:169223473-169223473 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2404G>A; p.D802N; 6:169228137-169228137 |
skin | malignant_melanoma | Substitution - Missense |
c.2391C>T; p.D797D; 6:169228150-169228150 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1013G>T; p.C338F; 6:169240471-169240471 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2391C>T; p.D797D; 6:169228150-169228150 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3278G>A; p.R1093Q; 6:169221523-169221523 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.598_599delAG; p.H201fs*13; 6:169248427-169248428 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1894G>T; p.V632F; 6:169232702-169232702 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.910C>T; p.L304F; 6:169240574-169240574 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.2079G>T; p.E693D; 6:169232052-169232052 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.776C>T; p.S259L; 6:169241877-169241877 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2095G>T; p.G699C; 6:169232036-169232036 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.145G>A; p.D49N; 6:169248881-169248881 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1383C>T; p.I461I; 6:169237264-169237264 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.977T>C; p.F326S; 6:169240507-169240507 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.977T>C; p.F326S; 6:169240507-169240507 |
liver | carcinoma | Substitution - Missense |
c.2085G>A; p.S695S; 6:169232046-169232046 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.893C>T; p.S298L; 6:169240591-169240591 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1404G>A; p.V468V; 6:169237243-169237243 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1487G>A; p.R496H; 6:169234898-169234898 |
ovary | other; neoplasm | Substitution - Missense |
c.140G>T; p.G47V; 6:169248886-169248886 |
liver | carcinoma | Substitution - Missense |
c.2881A>G; p.N961D; 6:169223368-169223368 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1604G>A; p.G535E; 6:169234781-169234781 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.140G>T; p.G47V; 6:169248886-169248886 |
liver | carcinoma | Substitution - Missense |
c.1487G>A; p.R496H; 6:169234898-169234898 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.140G>T; p.G47V; 6:169248886-169248886 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2451C>T; p.Y817Y; 6:169226267-169226267 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2774-2A>T; p.?; 6:169223477-169223477 |
liver | carcinoma | Unknown |
c.760T>C; p.Y254H; 6:169241893-169241893 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.475G>A; p.E159K; 6:169248551-169248551 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3370A>C; p.R1124R; 6:169221431-169221431 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1297C>T; p.R433C; 6:169237628-169237628 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.611G>A; p.G204D; 6:169246280-169246280 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2121C>T; p.C707C; 6:169232010-169232010 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.537C>T; p.F179F; 6:169248489-169248489 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.2988_2989CG>AA; p.G997S; 6:169223260-169223261 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.2988_2989CG>AA; p.G997S; 6:169223260-169223261 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.554C>A; p.A185E; 6:169248472-169248472 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.705C>T; p.N235N; 6:169241948-169241948 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.260C>A; p.T87K; 6:169248766-169248766 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.976T>G; p.F326V; 6:169240508-169240508 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.339C>T; p.F113F; 6:169248687-169248687 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1251delG; p.S419fs*9; 6:169237674-169237674 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.970G>A; p.G324S; 6:169240514-169240514 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.110G>A; p.R37H; 6:169248916-169248916 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2280C>G; p.F760L; 6:169228261-169228261 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2003T>C; p.L668P; 6:169232128-169232128 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.41C>A; p.P14H; 6:169250744-169250744 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.251T>G; p.F84C; 6:169248775-169248775 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.175C>T; p.R59C; 6:169248851-169248851 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1806C>A; p.F602L; 6:169232790-169232790 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.194C>T; p.P65L; 6:169248832-169248832 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.276G>T; p.Q92H; 6:169248750-169248750 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.361G>A; p.A121T; 6:169248665-169248665 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.2073C>T; p.C691C; 6:169232058-169232058 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.175C>T; p.R59C; 6:169248851-169248851 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.3360T>C; p.T1120T; 6:169221441-169221441 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1540A>G; p.I514V; 6:169234845-169234845 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2433A>G; p.E811E; 6:169226285-169226285 |
breast | carcinoma | Substitution - coding silent |
c.3360T>C; p.T1120T; 6:169221441-169221441 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.3360T>C; p.T1120T; 6:169221441-169221441 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.3360T>C; p.T1120T; 6:169221441-169221441 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.1439G>A; p.G480D; 6:169237208-169237208 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1086T>C; p.S362S; 6:169239642-169239642 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3376T>A; p.L1126I; 6:169220333-169220333 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2222A>T; p.D741V; 6:169229609-169229609 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2524C>A; p.H842N; 6:169226194-169226194 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.223A>G; p.T75A; 6:169248803-169248803 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.550C>T; p.Q184*; 6:169248476-169248476 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2369delC; p.T790fs*75; 6:169228172-169228172 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2007C>T; p.G669G; 6:169232124-169232124 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1651G>T; p.D551Y; 6:169234734-169234734 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.151G>T; p.G51C; 6:169248875-169248875 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.2007C>T; p.G669G; 6:169232124-169232124 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.3285A>G; p.L1095L; 6:169221516-169221516 |
liver | carcinoma | Substitution - coding silent |
c.2962C>A; p.L988M; 6:169223287-169223287 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1267C>A; p.R423R; 6:169237658-169237658 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1623G>C; p.Q541H; 6:169234762-169234762 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.3221C>A; p.T1074K; 6:169222249-169222249 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1422G>T; p.K474N; 6:169237225-169237225 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2339C>A; p.P780H; 6:169228202-169228202 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1217G>T; p.R406L; 6:169237708-169237708 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1175A>T; p.Q392L; 6:169237750-169237750 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2054C>A; p.A685E; 6:169232077-169232077 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3349A>G; p.R1117G; 6:169221452-169221452 |
prostate | carcinoma | Substitution - Missense |
c.1912G>T; p.A638S; 6:169232684-169232684 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.529G>A; p.E177K; 6:169248497-169248497 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1912G>T; p.A638S; 6:169232684-169232684 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2077G>A; p.E693K; 6:169232054-169232054 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.3502G>A; p.E1168K; 6:169220207-169220207 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3291C>T; p.H1097H; 6:169221510-169221510 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.3502G>A; p.E1168K; 6:169220207-169220207 |
NS | malignant_melanoma | Substitution - Missense |
c.1902C>T; p.V634V; 6:169232694-169232694 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2152G>A; p.D718N; 6:169229679-169229679 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.1883G>A; p.G628E; 6:169232713-169232713 |
skin | malignant_melanoma | Substitution - Missense |
c.983C>T; p.A328V; 6:169240501-169240501 |
pleura | pulmonary_blastoma | Substitution - Missense |
c.3254C>A; p.T1085K; 6:169222216-169222216 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.1348T>G; p.S450A; 6:169237299-169237299 |
liver | carcinoma | Substitution - Missense |
c.2152G>A; p.D718N; 6:169229679-169229679 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1348T>G; p.S450A; 6:169237299-169237299 |
liver | carcinoma | Substitution - Missense |
c.1348T>G; p.S450A; 6:169237299-169237299 |
liver | carcinoma | Substitution - Missense |
c.983C>T; p.A328V; 6:169240501-169240501 |
pleura | pulmonary_blastoma | Substitution - Missense |
c.2177C>A; p.S726Y; 6:169229654-169229654 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1502C>G; p.S501C; 6:169234883-169234883 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.426C>A; p.V142V; 6:169248600-169248600 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1777G>A; p.E593K; 6:169232892-169232892 |
liver | carcinoma | Substitution - Missense |
c.768C>T; p.G256G; 6:169241885-169241885 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.235C>T; p.R79W; 6:169248791-169248791 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2096G>C; p.G699A; 6:169232035-169232035 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.280G>A; p.G94S; 6:169248746-169248746 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1803C>A; p.C601*; 6:169232793-169232793 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.280G>A; p.G94S; 6:169248746-169248746 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1618C>T; p.R540C; 6:169234767-169234767 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1340C>A; p.S447Y; 6:169237307-169237307 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3267G>A; p.P1089P; 6:169222203-169222203 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.984G>A; p.A328A; 6:169240500-169240500 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2012T>G; p.F671C; 6:169232119-169232119 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1988C>T; p.A663V; 6:169232143-169232143 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.20T>A; p.L7Q; 6:169250765-169250765 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.325_326TC>GT; p.S109>?; 6:169248700-169248701 |
NS | malignant_melanoma | Complex |
c.728C>T; p.T243M; 6:169241925-169241925 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.864C>T; p.N288N; 6:169241789-169241789 |
breast | carcinoma | Substitution - coding silent |
c.2713G>A; p.V905I; 6:169225205-169225205 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1390T>G; p.C464G; 6:169237257-169237257 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.21G>A; p.L7L; 6:169250764-169250764 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.368C>T; p.T123M; 6:169248658-169248658 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.368C>T; p.T123M; 6:169248658-169248658 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1896C>T; p.V632V; 6:169232700-169232700 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1091C>T; p.S364F; 6:169239637-169239637 |
skin | malignant_melanoma | Substitution - Missense |
c.2500C>A; p.H834N; 6:169226218-169226218 |
breast | carcinoma | Substitution - Missense |
c.327C>T; p.S109S; 6:169248699-169248699 |
skin | malignant_melanoma | Substitution - coding silent |
c.2086G>A; p.D696N; 6:169232045-169232045 |
skin; neck | malignant_melanoma | Substitution - Missense |
c.1181C>T; p.S394F; 6:169237744-169237744 |
skin | malignant_melanoma | Substitution - Missense |
c.2783G>A; p.R928Q; 6:169223466-169223466 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3292G>A; p.D1098N; 6:169221509-169221509 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.340G>A; p.E114K; 6:169248686-169248686 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.2906C>G; p.P969R; 6:169223343-169223343 |
NS | malignant_melanoma | Substitution - Missense |
c.3292G>A; p.D1098N; 6:169221509-169221509 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1064G>A; p.C355Y; 6:169239664-169239664 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2906C>G; p.P969R; 6:169223343-169223343 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia | Substitution - Missense |
c.2019C>T; p.D673D; 6:169232112-169232112 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1418delG; p.G473fs*277; 6:169237229-169237229 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.414C>T; p.S138S; 6:169248612-169248612 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2583C>T; p.N861N; 6:169225335-169225335 |
pancreas | carcinoma | Substitution - coding silent |
c.261G>T; p.T87T; 6:169248765-169248765 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3445C>T; p.R1149W; 6:169220264-169220264 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2803G>A; p.D935N; 6:169223446-169223446 |
skin | malignant_melanoma | Substitution - Missense |
c.2803G>A; p.D935N; 6:169223446-169223446 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2169G>A; p.L723L; 6:169229662-169229662 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.708C>T; p.A236A; 6:169241945-169241945 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - coding silent |
c.1584C>T; p.Y528Y; 6:169234801-169234801 |
liver | carcinoma | Substitution - coding silent |
c.2152-9C>T; p.?; 6:169229688-169229688 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.3193C>T; p.L1065F; 6:169222277-169222277 |
bone; tibia | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.1857C>T; p.C619C; 6:169232739-169232739 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1584C>T; p.Y528Y; 6:169234801-169234801 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.2152-9C>T; p.?; 6:169229688-169229688 |
liver | carcinoma; hepatocellular_carcinoma | Unknown |
c.149C>A; p.P50H; 6:169248877-169248877 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1600G>A; p.V534M; 6:169234785-169234785 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.573C>T; p.Y191Y; 6:169248453-169248453 |
pancreas | carcinoma | Substitution - coding silent |
c.2438A>G; p.D813G; 6:169226280-169226280 |
ovary | other; neoplasm | Substitution - Missense |
c.233T>C; p.M78T; 6:169248793-169248793 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.609+7T>C; p.?; 6:169248410-169248410 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.2488G>A; p.G830S; 6:169226230-169226230 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2488G>A; p.G830S; 6:169226230-169226230 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |