General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information |
|
---|---|
Gene ID | 8864 |
Name | PER2 |
Synonymous | period circadian clock 2;PER2;period circadian clock 2 |
Definition | circadian clock protein PERIOD 2|hPER2|period 2|period circadian protein 2|period circadian protein homolog 2|period homolog 2 |
Position | 2q37.3 |
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 0.01. |
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.934C>T; p.L312L; 2:238268089-238268089 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3505C>T; p.L1169L; 2:238249175-238249175 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3686C>T; p.S1229F; 2:238246457-238246457 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.400A>G; p.T134A; 2:238275791-238275791 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1993T>C; p.S665P; 2:238256994-238256994 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1993T>C; p.S665P; 2:238256994-238256994 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1894G>T; p.A632S; 2:238258282-238258282 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3601G>A; p.A1201T; 2:238249079-238249079 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1093C>T; p.P365S; 2:238263012-238263012 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2838G>C; p.Q946H; 2:238253185-238253185 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.282A>G; p.T94T; 2:238277142-238277142 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.2455G>A; p.A819T; 2:238253568-238253568 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1192A>G; p.I398V; 2:238262306-238262306 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2861C>T; p.S954L; 2:238253162-238253162 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3451T>C; p.Y1151H; 2:238250567-238250567 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2347G>A; p.G783R; 2:238253676-238253676 |
breast | carcinoma | Substitution - Missense |
c.3059C>T; p.A1020V; 2:238252964-238252964 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2047A>C; p.K683Q; 2:238256940-238256940 |
kidney | other; neoplasm | Substitution - Missense |
c.578T>C; p.F193S; 2:238271506-238271506 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.569C>T; p.A190V; 2:238273071-238273071 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3584A>G; p.Q1195R; 2:238249096-238249096 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3449C>T; p.T1150M; 2:238250569-238250569 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.256G>A; p.A86T; 2:238277168-238277168 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.2776C>T; p.P926S; 2:238253247-238253247 |
skin | malignant_melanoma | Substitution - Missense |
c.621C>T; p.I207I; 2:238271463-238271463 |
skin | malignant_melanoma | Substitution - coding silent |
c.3562C>T; p.R1188C; 2:238249118-238249118 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.3562C>T; p.R1188C; 2:238249118-238249118 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.3733T>A; p.S1245T; 2:238246410-238246410 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.33C>T; p.P11P; 2:238277904-238277904 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1540G>T; p.A514S; 2:238260830-238260830 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2464C>T; p.P822S; 2:238253559-238253559 |
skin | malignant_melanoma | Substitution - Missense |
c.2464C>T; p.P822S; 2:238253559-238253559 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1944T>C; p.G648G; 2:238257043-238257043 |
breast | carcinoma | Substitution - coding silent |
c.1474G>A; p.E492K; 2:238260896-238260896 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.564G>A; p.K188K; 2:238273076-238273076 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2252T>C; p.L751P; 2:238255725-238255725 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3731G>A; p.G1244E; 2:238246412-238246412 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.798G>A; p.E266E; 2:238268949-238268949 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.895C>T; p.R299W; 2:238268128-238268128 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.542T>A; p.V181D; 2:238273098-238273098 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2114C>T; p.A705V; 2:238255863-238255863 |
breast | carcinoma | Substitution - Missense |
c.1204G>T; p.A402S; 2:238262294-238262294 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.709G>A; p.G237S; 2:238271375-238271375 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.13G>A; p.A5T; 2:238277924-238277924 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.13G>A; p.A5T; 2:238277924-238277924 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.3464C>T; p.S1155F; 2:238250554-238250554 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2139C>T; p.L713L; 2:238255838-238255838 |
breast | carcinoma | Substitution - coding silent |
c.735G>A; p.P245P; 2:238271349-238271349 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2816C>T; p.S939F; 2:238253207-238253207 |
skin | malignant_melanoma | Substitution - Missense |
c.2269C>T; p.H757Y; 2:238255708-238255708 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1992G>A; p.A664A; 2:238256995-238256995 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1992G>A; p.A664A; 2:238256995-238256995 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1992G>A; p.A664A; 2:238256995-238256995 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.1175C>G; p.P392R; 2:238262323-238262323 |
pancreas | carcinoma | Substitution - Missense |
c.3102G>A; p.A1034A; 2:238252921-238252921 |
breast | carcinoma | Substitution - coding silent |
c.3145G>A; p.A1049T; 2:238251728-238251728 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3145G>A; p.A1049T; 2:238251728-238251728 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2116G>T; p.G706C; 2:238255861-238255861 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1864C>T; p.R622W; 2:238258312-238258312 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.107G>A; p.S36N; 2:238277830-238277830 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1703C>T; p.P568L; 2:238258569-238258569 |
skin | malignant_melanoma | Substitution - Missense |
c.2048A>C; p.K683T; 2:238256939-238256939 |
kidney | other; neoplasm | Substitution - Missense |
c.2564C>T; p.S855L; 2:238253459-238253459 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1258C>T; p.P420S; 2:238262240-238262240 |
breast | carcinoma | Substitution - Missense |
c.55G>A; p.V19M; 2:238277882-238277882 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.770C>T; p.A257V; 2:238271314-238271314 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3253G>A; p.D1085N; 2:238251620-238251620 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.3403C>T; p.P1135S; 2:238250615-238250615 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.487G>A; p.G163S; 2:238273153-238273153 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2857A>C; p.T953P; 2:238253166-238253166 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.989delA; p.K330fs*32; 2:238265569-238265569 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2433C>T; p.T811T; 2:238253590-238253590 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.383C>A; p.A128D; 2:238275808-238275808 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2433C>T; p.T811T; 2:238253590-238253590 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - coding silent |
c.2433C>T; p.T811T; 2:238253590-238253590 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1757G>T; p.C586F; 2:238258515-238258515 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.308C>T; p.S103L; 2:238275883-238275883 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.22C>T; p.P8S; 2:238277915-238277915 |
skin | malignant_melanoma | Substitution - Missense |
c.932T>G; p.L311R; 2:238268091-238268091 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1196G>A; p.R399Q; 2:238262302-238262302 |
pancreas | carcinoma | Substitution - Missense |
c.2467C>G; p.L823V; 2:238253556-238253556 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.1173G>T; p.Q391H; 2:238262325-238262325 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2961G>A; p.S987S; 2:238253062-238253062 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.638C>T; p.S213F; 2:238271446-238271446 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2522G>A; p.C841Y; 2:238253501-238253501 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2115G>A; p.A705A; 2:238255862-238255862 |
prostate | carcinoma | Substitution - coding silent |
c.80C>A; p.P27Q; 2:238277857-238277857 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2951G>A; p.R984H; 2:238253072-238253072 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.122A>G; p.H41R; 2:238277815-238277815 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.105C>T; p.S35S; 2:238277832-238277832 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2935C>A; p.P979T; 2:238253088-238253088 |
lung; middle_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2849C>T; p.P950L; 2:238253174-238253174 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3382A>G; p.I1128V; 2:238250636-238250636 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1611G>T; p.K537N; 2:238259985-238259985 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1844C>T; p.A615V; 2:238258332-238258332 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1429A>T; p.S477C; 2:238260941-238260941 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.2327C>A; p.P776H; 2:238253696-238253696 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1425C>T; p.P475P; 2:238260945-238260945 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.668G>A; p.S223N; 2:238271416-238271416 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1562A>G; p.N521S; 2:238260034-238260034 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2826C>A; p.A942A; 2:238253197-238253197 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1562A>G; p.N521S; 2:238260034-238260034 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3648delA; p.G1217fs*31; 2:238246495-238246495 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.932T>C; p.L311P; 2:238268091-238268091 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.61C>A; p.P21T; 2:238277876-238277876 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.2469G>A; p.L823L; 2:238253554-238253554 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2469G>A; p.L823L; 2:238253554-238253554 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2469G>A; p.L823L; 2:238253554-238253554 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1102G>A; p.V368M; 2:238263003-238263003 |
breast | carcinoma | Substitution - Missense |
c.3765G>A; p.T1255T; 2:238246378-238246378 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3670G>A; p.E1224K; 2:238246473-238246473 |
breast | carcinoma | Substitution - Missense |
c.2317C>T; p.R773*; 2:238255660-238255660 |
breast | carcinoma | Substitution - Nonsense |
c.1946C>G; p.T649R; 2:238257041-238257041 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.548C>T; p.S183F; 2:238273092-238273092 |
skin | malignant_melanoma | Substitution - Missense |
c.891G>A; p.K297K; 2:238268132-238268132 |
skin | malignant_melanoma | Substitution - coding silent |
c.2806A>G; p.T936A; 2:238253217-238253217 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.505G>C; p.D169H; 2:238273135-238273135 |
breast | carcinoma | Substitution - Missense |
c.2964C>T; p.P988P; 2:238253059-238253059 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3108G>C; p.L1036L; 2:238252915-238252915 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.535G>A; p.E179K; 2:238273105-238273105 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.1541C>T; p.A514V; 2:238260829-238260829 |
skin | malignant_melanoma | Substitution - Missense |
c.2327C>T; p.P776L; 2:238253696-238253696 |
skin | malignant_melanoma | Substitution - Missense |
c.3187G>T; p.E1063*; 2:238251686-238251686 |
prostate | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.3408C>A; p.I1136I; 2:238250610-238250610 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2638G>A; p.A880T; 2:238253385-238253385 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3537C>G; p.F1179L; 2:238249143-238249143 |
peritoneum; appendix | other; pseudomyxoma_peritonei | Substitution - Missense |
c.817C>T; p.R273C; 2:238268930-238268930 |
bone; pelvis | chondrosarcoma | Substitution - Missense |
c.582G>A; p.A194A; 2:238271502-238271502 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1519G>A; p.E507K; 2:238260851-238260851 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.3237C>T; p.S1079S; 2:238251636-238251636 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.703G>A; p.D235N; 2:238271381-238271381 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2028C>T; p.I676I; 2:238256959-238256959 |
skin | malignant_melanoma | Substitution - coding silent |
c.3272C>T; p.A1091V; 2:238251601-238251601 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2346C>T; p.S782S; 2:238253677-238253677 |
breast | carcinoma | Substitution - coding silent |
c.306T>G; p.S102S; 2:238275885-238275885 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.1201C>T; p.R401C; 2:238262297-238262297 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1821C>T; p.C607C; 2:238258355-238258355 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1306G>A; p.V436M; 2:238262192-238262192 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.3264G>A; p.P1088P; 2:238251609-238251609 |
NS | NS | Substitution - coding silent |
c.3452A>G; p.Y1151C; 2:238250566-238250566 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3046G>A; p.A1016T; 2:238252977-238252977 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2320+6T>C; p.?; 2:238255651-238255651 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Unknown |
c.84G>A; p.L28L; 2:238277853-238277853 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2100C>T; p.S700S; 2:238255877-238255877 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2866C>T; p.P956S; 2:238253157-238253157 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.12C>T; p.Y4Y; 2:238277925-238277925 |
liver | carcinoma | Substitution - coding silent |
c.2688C>T; p.F896F; 2:238253335-238253335 |
skin | malignant_melanoma | Substitution - coding silent |
c.3204C>T; p.A1068A; 2:238251669-238251669 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2741C>T; p.P914L; 2:238253282-238253282 |
skin | malignant_melanoma | Substitution - Missense |
c.1256A>G; p.N419S; 2:238262242-238262242 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3681T>A; p.I1227I; 2:238246462-238246462 |
skin | malignant_melanoma | Substitution - coding silent |
c.2307G>A; p.Q769Q; 2:238255670-238255670 |
skin | malignant_melanoma | Substitution - coding silent |
c.1075C>T; p.Q359*; 2:238263030-238263030 |
skin | malignant_melanoma | Substitution - Nonsense |
c.746C>T; p.P249L; 2:238271338-238271338 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2735C>T; p.S912F; 2:238253288-238253288 |
skin | malignant_melanoma | Substitution - Missense |
c.746C>T; p.P249L; 2:238271338-238271338 |
skin | malignant_melanoma | Substitution - Missense |
c.2748G>A; p.G916G; 2:238253275-238253275 |
skin | malignant_melanoma | Substitution - coding silent |
c.2735C>T; p.S912F; 2:238253288-238253288 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.328G>A; p.E110K; 2:238275863-238275863 |
skin | malignant_melanoma | Substitution - Missense |
c.2852G>A; p.S951N; 2:238253171-238253171 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.3306T>A; p.Y1102*; 2:238250712-238250712 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.426C>T; p.L142L; 2:238275765-238275765 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3093G>A; p.Q1031Q; 2:238252930-238252930 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.116G>A; p.S39N; 2:238277821-238277821 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.116G>A; p.S39N; 2:238277821-238277821 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.248T>C; p.L83P; 2:238277176-238277176 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1627+1G>T; p.?; 2:238259968-238259968 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Unknown |
c.2644C>T; p.P882S; 2:238253379-238253379 |
liver | carcinoma | Substitution - Missense |
c.2644C>T; p.P882S; 2:238253379-238253379 |
liver | carcinoma | Substitution - Missense |
c.2448C>T; p.P816P; 2:238253575-238253575 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.214_215CC>TT; p.P72L; 2:238277722-238277723 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.801G>T; p.E267D; 2:238268946-238268946 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.152G>C; p.R51P; 2:238277785-238277785 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1935G>T; p.T645T; 2:238257052-238257052 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.151C>T; p.R51W; 2:238277786-238277786 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2413C>T; p.R805*; 2:238253610-238253610 |
skin | malignant_melanoma | Substitution - Nonsense |
c.3275-1G>T; p.?; 2:238250744-238250744 |
liver | carcinoma; hepatocellular_carcinoma | Unknown |
c.1501A>T; p.S501C; 2:238260869-238260869 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.3357T>A; p.T1119T; 2:238250661-238250661 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2914G>T; p.A972S; 2:238253109-238253109 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1494C>T; p.T498T; 2:238260876-238260876 |
skin | malignant_melanoma | Substitution - coding silent |
c.2740C>T; p.P914S; 2:238253283-238253283 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.216G>A; p.P72P; 2:238277721-238277721 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.2278T>C; p.Y760H; 2:238255699-238255699 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.178G>A; p.D60N; 2:238277759-238277759 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.354G>A; p.L118L; 2:238275837-238275837 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.2689C>T; p.P897S; 2:238253334-238253334 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2998C>T; p.P1000S; 2:238253025-238253025 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1958C>T; p.S653L; 2:238257029-238257029 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1934C>T; p.T645M; 2:238257053-238257053 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1768G>A; p.V590I; 2:238258504-238258504 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1768G>A; p.V590I; 2:238258504-238258504 |
stomach | adenocarcinoma | Substitution - Missense |
c.1447G>A; p.G483R; 2:238260923-238260923 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3140G>C; p.S1047T; 2:238251733-238251733 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.3496A>G; p.R1166G; 2:238249184-238249184 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.3592_3593GG>TT; p.G1198F; 2:238249087-238249088 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3144C>T; p.D1048D; 2:238251729-238251729 |
stomach | adenocarcinoma | Substitution - coding silent |
c.570+1G>A; p.?; 2:238273069-238273069 |
breast | carcinoma | Unknown |
c.3496A>G; p.R1166G; 2:238249184-238249184 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.3140G>C; p.S1047T; 2:238251733-238251733 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2818G>C; p.E940Q; 2:238253205-238253205 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.215C>T; p.P72L; 2:238277722-238277722 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1168G>A; p.G390R; 2:238262330-238262330 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1972G>A; p.G658S; 2:238257015-238257015 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.776C>A; p.S259Y; 2:238268971-238268971 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1658A>G; p.K553R; 2:238258614-238258614 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.177C>T; p.D59D; 2:238277760-238277760 |
stomach | adenocarcinoma | Substitution - coding silent |
c.1705G>A; p.E569K; 2:238258567-238258567 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.3163G>A; p.G1055S; 2:238251710-238251710 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1254C>T; p.I418I; 2:238262244-238262244 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2612C>T; p.P871L; 2:238253411-238253411 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.2831C>T; p.A944V; 2:238253192-238253192 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |