| Gene ID | 259266 |
| Symbol | ASPM |
| Synonymous | ASP|Calmbp1|MCPH5 |
| Full name | asp (abnormal spindle) homolog, microcephaly associated (Drosophila) |
| Gene description | abnormal spindle-like microcephaly-associated protein |
| Cytoband | 1q31 |
| Gene type | protein-coding |
| Synonymous | MIM:605481; HGNC:HGNC:19048; Ensembl:ENSG00000066279; HPRD:08384; Vega:OTTHUMG00000036277 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.2500G>T; p.E834*; 1:197130044-197130044 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.9789T>C; p.Y3263Y; 1:197090236-197090236 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.7723A>G; p.K2575E; 1:197101528-197101528 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.134G>A; p.C45Y; 1:197146304-197146304 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.7010C>T; p.A2337V; 1:197102241-197102241 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.6015G>T; p.R2005S; 1:197103236-197103236 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5939A>G; p.Y1980C; 1:197103312-197103312 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.6931G>A; p.V2311I; 1:197102320-197102320 |
fallopian_tube | carcinoma; serous_carcinoma | Substitution - Missense |
c.7857delA; p.K2619fs*22; 1:197101394-197101394 |
stomach | adenocarcinoma | Deletion - Frameshift |
c.7857delA; p.K2619fs*22; 1:197101394-197101394 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.5759T>C; p.F1920S; 1:197103492-197103492 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Substitution - Missense |
c.3056G>A; p.R1019Q; 1:197125072-197125072 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.7473C>G; p.F2491L; 1:197101778-197101778 |
breast | carcinoma | Substitution - Missense |
c.918G>T; p.L306F; 1:197143334-197143334 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.9546T>A; p.N3182K; 1:197090940-197090940 |
prostate | carcinoma | Substitution - Missense |
c.2390G>A; p.R797Q; 1:197133379-197133379 |
skin | malignant_melanoma | Substitution - Missense |
c.8986C>T; p.R2996W; 1:197095999-197095999 |
endometrium | carcinoma; serous_carcinoma | Substitution - Missense |
c.5769A>G; p.A1923A; 1:197103482-197103482 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.8986C>T; p.R2996W; 1:197095999-197095999 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1549G>C; p.A517P; 1:197142703-197142703 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Substitution - Missense |
c.5302C>T; p.R1768W; 1:197103949-197103949 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.8900G>A; p.C2967Y; 1:197096085-197096085 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.4655A>T; p.K1552I; 1:197104596-197104596 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.5149delA; p.I1717fs*1; 1:197104102-197104102 |
large_intestine; colon | NS | Deletion - Frameshift |
c.4898G>C; p.R1633P; 1:197104353-197104353 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.9871G>T; p.A3291S; 1:197090043-197090043 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3273T>C; p.D1091D; 1:197124227-197124227 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5149delA; p.I1717fs*1; 1:197104102-197104102 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.5149delA; p.I1717fs*1; 1:197104102-197104102 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.10117T>G; p.C3373G; 1:197088300-197088300 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.6383A>T; p.K2128I; 1:197102868-197102868 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1896G>T; p.E632D; 1:197142356-197142356 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.4418C>T; p.S1473L; 1:197104833-197104833 |
skin | malignant_melanoma | Substitution - Missense |
c.6187T>C; p.Y2063H; 1:197103064-197103064 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.839C>T; p.S280F; 1:197143413-197143413 |
skin | malignant_melanoma | Substitution - Missense |
c.4897C>T; p.R1633C; 1:197104354-197104354 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.9526G>C; p.E3176Q; 1:197090960-197090960 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1994C>T; p.S665F; 1:197139799-197139799 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.571C>T; p.P191S; 1:197143681-197143681 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.9421G>A; p.V3141I; 1:197091930-197091930 |
breast | carcinoma | Substitution - Missense |
c.5964G>A; p.K1988K; 1:197103287-197103287 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3138G>C; p.R1046S; 1:197124900-197124900 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.8099G>A; p.R2700Q; 1:197101152-197101152 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.5452C>T; p.R1818C; 1:197103799-197103799 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2830C>T; p.L944F; 1:197128596-197128596 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4009A>C; p.M1337L; 1:197117845-197117845 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.7187G>T; p.R2396M; 1:197102064-197102064 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.7782_7783delGA; p.K2595fs*6; 1:197101468-197101469 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - Frameshift |
c.817G>T; p.E273*; 1:197143435-197143435 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.3540T>C; p.N1180N; 1:197122446-197122446 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.8644T>C; p.Y2882H; 1:197100607-197100607 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.7205G>C; p.R2402T; 1:197102046-197102046 |
skin | malignant_melanoma | Substitution - Missense |
c.9444G>T; p.Q3148H; 1:197091907-197091907 |
kidney | carcinoma; renal_cell_carcinoma | Substitution - Missense |
c.9896T>C; p.I3299T; 1:197090018-197090018 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.9579C>T; p.R3193R; 1:197090907-197090907 |
thyroid | carcinoma | Substitution - coding silent |
c.5316G>A; p.L1772L; 1:197103935-197103935 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.6305C>A; p.S2102Y; 1:197102946-197102946 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.7380A>T; p.A2460A; 1:197101871-197101871 |
lung | carcinoma; small_cell_carcinoma | Substitution - coding silent |
c.2828A>T; p.H943L; 1:197128598-197128598 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4072T>G; p.W1358G; 1:197105179-197105179 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.5671C>T; p.R1891W; 1:197103580-197103580 |
skin; extremity | malignant_melanoma | Substitution - Missense |
c.7540T>A; p.Y2514N; 1:197101711-197101711 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.6178A>G; p.K2060E; 1:197103073-197103073 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.6989G>T; p.R2330M; 1:197102262-197102262 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.7540T>A; p.Y2514N; 1:197101711-197101711 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.60G>C; p.P20P; 1:197146378-197146378 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2892C>T; p.A964A; 1:197128534-197128534 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.646G>A; p.E216K; 1:197143606-197143606 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.7382C>T; p.A2461V; 1:197101869-197101869 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3875G>C; p.R1292T; 1:197117979-197117979 |
prostate | carcinoma | Substitution - Missense |
c.1585G>C; p.E529Q; 1:197142667-197142667 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.5879G>A; p.G1960E; 1:197103372-197103372 |
skin | malignant_melanoma | Substitution - Missense |
c.468G>A; p.K156K; 1:197143784-197143784 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.5333T>C; p.I1778T; 1:197103918-197103918 |
bone; pelvis | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.4848C>T; p.F1616F; 1:197104403-197104403 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.9645G>A; p.W3215*; 1:197090380-197090380 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.8735G>C; p.S2912T; 1:197100516-197100516 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2938C>T; p.R980*; 1:197125190-197125190 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.10128G>T; p.L3376F; 1:197088289-197088289 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.622G>T; p.E208*; 1:197143630-197143630 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.4194T>C; p.V1398V; 1:197105057-197105057 |
skin | malignant_melanoma | Substitution - coding silent |
c.6091T>C; p.Y2031H; 1:197103160-197103160 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.8483T>A; p.M2828K; 1:197100768-197100768 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2217A>C; p.K739N; 1:197133552-197133552 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1669A>T; p.S557C; 1:197142583-197142583 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.8315A>G; p.Q2772R; 1:197100936-197100936 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3976T>C; p.W1326R; 1:197117878-197117878 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3864C>T; p.R1288R; 1:197121921-197121921 |
skin | malignant_melanoma | Substitution - coding silent |
c.6143T>A; p.V2048D; 1:197103108-197103108 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2217A>C; p.K739N; 1:197133552-197133552 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2217A>C; p.K739N; 1:197133552-197133552 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.3515C>T; p.T1172M; 1:197122471-197122471 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3515C>T; p.T1172M; 1:197122471-197122471 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.9584T>A; p.F3195Y; 1:197090902-197090902 |
skin | malignant_melanoma | Substitution - Missense |
c.2034C>G; p.P678P; 1:197135235-197135235 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2137_2138CC>TT; p.P713F; 1:197135131-197135132 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.8742C>T; p.I2914I; 1:197100509-197100509 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.9584T>A; p.F3195Y; 1:197090902-197090902 |
skin | malignant_melanoma | Substitution - Missense |
c.10331+2T>A; p.?; 1:197086801-197086801 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Unknown |
c.3491G>A; p.R1164H; 1:197122495-197122495 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1287G>A; p.W429*; 1:197142965-197142965 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1153G>C; p.E385Q; 1:197143099-197143099 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.4143A>G; p.I1381M; 1:197105108-197105108 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.10011T>C; p.Y3337Y; 1:197088406-197088406 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.7526T>C; p.L2509P; 1:197101725-197101725 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2032C>T; p.P678S; 1:197135237-197135237 |
skin | malignant_melanoma | Substitution - Missense |
c.7304T>C; p.I2435T; 1:197101947-197101947 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.9328C>T; p.H3110Y; 1:197092023-197092023 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1858G>C; p.V620L; 1:197142394-197142394 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3518A>C; p.Q1173P; 1:197122468-197122468 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3176T>A; p.I1059N; 1:197124324-197124324 |
skin | malignant_melanoma | Substitution - Missense |
c.6166G>A; p.A2056T; 1:197103085-197103085 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.4508C>T; p.A1503V; 1:197104743-197104743 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.6912T>G; p.H2304Q; 1:197102339-197102339 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2463T>G; p.P821P; 1:197132309-197132309 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4149G>A; p.M1383I; 1:197105102-197105102 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.8908G>A; p.A2970T; 1:197096077-197096077 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.8191G>A; p.E2731K; 1:197101060-197101060 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.9033G>A; p.W3011*; 1:197094135-197094135 |
skin | malignant_melanoma | Substitution - Nonsense |
c.5047_5053delATAAAAT; p.I1683fs*7; 1:197104198-197104204 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - Frameshift |
c.2500G>A; p.E834K; 1:197130044-197130044 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.8892G>T; p.W2964C; 1:197096093-197096093 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.5709G>A; p.K1903K; 1:197103542-197103542 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2247G>A; p.E749E; 1:197133522-197133522 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.9319C>T; p.R3107*; 1:197092032-197092032 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.9319C>T; p.R3107*; 1:197092032-197092032 |
skin | malignant_melanoma | Substitution - Nonsense |
c.122_123delTC; p.L41fs*30; 1:197146315-197146316 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - Frameshift |
c.3612G>T; p.E1204D; 1:197122288-197122288 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3979C>T; p.R1327*; 1:197117875-197117875 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2229T>A; p.P743P; 1:197133540-197133540 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3056G>T; p.R1019L; 1:197125072-197125072 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2307A>C; p.A769A; 1:197133462-197133462 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1824G>A; p.E608E; 1:197142428-197142428 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2307A>C; p.A769A; 1:197133462-197133462 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.9240A>T; p.K3080N; 1:197093106-197093106 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2307A>C; p.A769A; 1:197133462-197133462 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.2307A>C; p.A769A; 1:197133462-197133462 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.7943G>A; p.R2648K; 1:197101308-197101308 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1824G>A; p.E608E; 1:197142428-197142428 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2307A>C; p.A769A; 1:197133462-197133462 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1249A>G; p.N417D; 1:197143003-197143003 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2047C>A; p.P683T; 1:197135222-197135222 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.6175A>C; p.T2059P; 1:197103076-197103076 |
thyroid | carcinoma; medullary_carcinoma | Substitution - Missense |
c.2751C>T; p.A917A; 1:197129196-197129196 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2751C>T; p.A917A; 1:197129196-197129196 |
liver | carcinoma | Substitution - coding silent |
c.1731C>T; p.S577S; 1:197142521-197142521 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.9164C>A; p.A3055D; 1:197093182-197093182 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.1731C>T; p.S577S; 1:197142521-197142521 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3310G>A; p.G1104S; 1:197124190-197124190 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.6302A>G; p.Q2101R; 1:197102949-197102949 |
liver | carcinoma | Substitution - Missense |
c.1731C>T; p.S577S; 1:197142521-197142521 |
lung | carcinoma; small_cell_carcinoma | Substitution - coding silent |
c.4285T>C; p.S1429P; 1:197104966-197104966 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2799C>T; p.F933F; 1:197128627-197128627 |
skin | malignant_melanoma | Substitution - coding silent |
c.3856C>G; p.L1286V; 1:197121929-197121929 |
breast | carcinoma | Substitution - Missense |
c.1250A>G; p.N417S; 1:197143002-197143002 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.6659A>T; p.Q2220L; 1:197102592-197102592 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.2799C>T; p.F933F; 1:197128627-197128627 |
skin | malignant_melanoma | Substitution - coding silent |
c.8519C>A; p.A2840D; 1:197100732-197100732 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.6323G>A; p.R2108K; 1:197102928-197102928 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.9638C>T; p.A3213V; 1:197090387-197090387 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.7551T>C; p.Y2517Y; 1:197101700-197101700 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.7551T>C; p.Y2517Y; 1:197101700-197101700 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.5156C>T; p.A1719V; 1:197104095-197104095 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.7250G>C; p.R2417T; 1:197102001-197102001 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.9541C>T; p.R3181*; 1:197090945-197090945 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.4828G>A; p.V1610I; 1:197104423-197104423 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.2752G>A; p.E918K; 1:197129195-197129195 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2752G>A; p.E918K; 1:197129195-197129195 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.9395T>G; p.L3132R; 1:197091956-197091956 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2929C>T; p.R977C; 1:197128497-197128497 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.7917_7921delAATAA; p.I2640fs*7; 1:197101330-197101334 |
breast | carcinoma | Deletion - Frameshift |
c.2603C>A; p.P868H; 1:197129941-197129941 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.9578G>T; p.R3193L; 1:197090908-197090908 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.298-1G>A; p.?; 1:197144101-197144101 |
breast | carcinoma | Unknown |
c.808T>C; p.S270P; 1:197143444-197143444 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.4829T>A; p.V1610D; 1:197104422-197104422 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.719C>T; p.S240F; 1:197143533-197143533 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2938C>A; p.R980R; 1:197125190-197125190 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.980G>T; p.G327V; 1:197143272-197143272 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2938C>A; p.R980R; 1:197125190-197125190 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3983G>T; p.R1328I; 1:197117871-197117871 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.790G>A; p.A264T; 1:197143462-197143462 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.8045G>A; p.R2682Q; 1:197101206-197101206 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3010C>T; p.Q1004*; 1:197125118-197125118 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.2306C>T; p.A769V; 1:197133463-197133463 |
breast | carcinoma | Substitution - Missense |
c.7771A>C; p.K2591Q; 1:197101480-197101480 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1813_1814insT; p.S605fs*6; 1:197142438-197142439 |
large_intestine; caecum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.10368G>T; p.M3456I; 1:197084390-197084390 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.10115C>T; p.T3372I; 1:197088302-197088302 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.8432A>G; p.Y2811C; 1:197100819-197100819 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1222C>T; p.Q408*; 1:197143030-197143030 |
skin | malignant_melanoma | Substitution - Nonsense |
c.8070G>T; p.R2690R; 1:197101181-197101181 |
liver | carcinoma | Substitution - coding silent |
c.8300C>T; p.A2767V; 1:197100951-197100951 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4449A>G; p.K1483K; 1:197104802-197104802 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.6919C>T; p.Q2307*; 1:197102332-197102332 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia | Substitution - Nonsense |
c.2649C>T; p.S883S; 1:197129298-197129298 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1680C>T; p.N560N; 1:197142572-197142572 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.8581A>G; p.R2861G; 1:197100670-197100670 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.4449A>G; p.K1483K; 1:197104802-197104802 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.1320A>T; p.E440D; 1:197142932-197142932 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.8070G>T; p.R2690R; 1:197101181-197101181 |
liver | carcinoma | Substitution - coding silent |
c.8525G>A; p.R2842Q; 1:197100726-197100726 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.684C>T; p.F228F; 1:197143568-197143568 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2299C>T; p.R767C; 1:197133470-197133470 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.7005C>T; p.H2335H; 1:197102246-197102246 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.7056G>C; p.M2352I; 1:197102195-197102195 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2942C>A; p.T981N; 1:197125186-197125186 |
breast | carcinoma | Substitution - Missense |
c.4704A>T; p.S1568S; 1:197104547-197104547 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.8560A>G; p.R2854G; 1:197100691-197100691 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1845G>T; p.K615N; 1:197142407-197142407 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4251T>C; p.Y1417Y; 1:197105000-197105000 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.6501G>A; p.L2167L; 1:197102750-197102750 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.7174C>T; p.Q2392*; 1:197102077-197102077 |
skin; leg | malignant_melanoma | Substitution - Nonsense |
c.7174C>T; p.Q2392*; 1:197102077-197102077 |
skin; leg | malignant_melanoma | Substitution - Nonsense |
c.5961A>G; p.Q1987Q; 1:197103290-197103290 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.6310T>C; p.Y2104H; 1:197102941-197102941 |
skin | malignant_melanoma | Substitution - Missense |
c.5961A>G; p.Q1987Q; 1:197103290-197103290 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3604A>G; p.T1202A; 1:197122296-197122296 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.8094C>G; p.F2698L; 1:197101157-197101157 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5961A>G; p.Q1987Q; 1:197103290-197103290 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.3146G>T; p.W1049L; 1:197124892-197124892 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.9842G>A; p.R3281K; 1:197090072-197090072 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.4457A>G; p.Y1486C; 1:197104794-197104794 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.4136C>A; p.S1379Y; 1:197105115-197105115 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4264T>C; p.S1422P; 1:197104987-197104987 |
breast | carcinoma | Substitution - Missense |
c.4226G>C; p.R1409T; 1:197105025-197105025 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4136C>A; p.S1379Y; 1:197105115-197105115 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4719A>G; p.R1573R; 1:197104532-197104532 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4226G>C; p.R1409T; 1:197105025-197105025 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.9633T>C; p.I3211I; 1:197090853-197090853 |
prostate | carcinoma | Substitution - coding silent |
c.7987G>A; p.A2663T; 1:197101264-197101264 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3475G>A; p.D1159N; 1:197122511-197122511 |
breast | carcinoma | Substitution - Missense |
c.6412A>G; p.T2138A; 1:197102839-197102839 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2611C>T; p.P871S; 1:197129933-197129933 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.7935C>T; p.L2645L; 1:197101316-197101316 |
skin | malignant_melanoma | Substitution - coding silent |
c.1807C>T; p.H603Y; 1:197142445-197142445 |
skin | malignant_melanoma | Substitution - Missense |
c.9940G>A; p.E3314K; 1:197089974-197089974 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.6331A>G; p.R2111G; 1:197102920-197102920 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.8360T>C; p.V2787A; 1:197100891-197100891 |
skin | malignant_melanoma | Substitution - Missense |
c.6331A>G; p.R2111G; 1:197102920-197102920 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.6331A>G; p.R2111G; 1:197102920-197102920 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.7896G>T; p.Q2632H; 1:197101355-197101355 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.6376A>T; p.M2126L; 1:197102875-197102875 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.10218A>T; p.T3406T; 1:197086916-197086916 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.9830-8delT; p.?; 1:197090092-197090092 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.10427C>T; p.P3476L; 1:197084331-197084331 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.9682A>C; p.K3228Q; 1:197090343-197090343 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1366G>T; p.E456*; 1:197142886-197142886 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.7056G>T; p.M2352I; 1:197102195-197102195 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.8506_8507delCA; p.Q2836fs*35; 1:197100744-197100745 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.5814G>A; p.R1938R; 1:197103437-197103437 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.728G>A; p.R243Q; 1:197143524-197143524 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.5492T>A; p.I1831N; 1:197103759-197103759 |
skin | malignant_melanoma | Substitution - Missense |
c.6671G>C; p.W2224S; 1:197102580-197102580 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.728G>A; p.R243Q; 1:197143524-197143524 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4294A>C; p.R1432R; 1:197104957-197104957 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5568A>G; p.R1856R; 1:197103683-197103683 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1252G>A; p.E418K; 1:197143000-197143000 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4875T>C; p.V1625V; 1:197104376-197104376 |
liver | carcinoma | Substitution - coding silent |
c.4875T>C; p.V1625V; 1:197104376-197104376 |
liver | carcinoma | Substitution - coding silent |
c.7606G>T; p.V2536F; 1:197101645-197101645 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.4732C>T; p.R1578*; 1:197104519-197104519 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.4732C>T; p.R1578*; 1:197104519-197104519 |
skin | malignant_melanoma | Substitution - Nonsense |
c.4732C>T; p.R1578*; 1:197104519-197104519 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1190delT; p.L397fs*1; 1:197143062-197143062 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.7598C>G; p.S2533C; 1:197101653-197101653 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4732C>T; p.R1578*; 1:197104519-197104519 |
skin | malignant_melanoma | Substitution - Nonsense |
c.2456A>G; p.Y819C; 1:197132316-197132316 |
lung; middle_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.3742-3delT; p.?; 1:197122046-197122046 |
liver | carcinoma | Unknown |
c.9593G>A; p.R3198H; 1:197090893-197090893 |
bone; pelvis | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.5031C>T; p.S1677S; 1:197104220-197104220 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.398A>G; p.Q133R; 1:197144000-197144000 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.724C>T; p.R242C; 1:197143528-197143528 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.4975G>T; p.V1659F; 1:197104276-197104276 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4975G>T; p.V1659F; 1:197104276-197104276 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.6896A>G; p.H2299R; 1:197102355-197102355 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.10374A>C; p.E3458D; 1:197084384-197084384 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.6242A>G; p.K2081R; 1:197103009-197103009 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.5039delA; p.N1680fs*4; 1:197104212-197104212 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.4975G>T; p.V1659F; 1:197104276-197104276 |
skin; sole | malignant_melanoma; acral_lentiginous | Substitution - Missense |
c.5137C>T; p.R1713C; 1:197104114-197104114 |
skin | malignant_melanoma | Substitution - Missense |
c.10170A>T; p.R3390R; 1:197086964-197086964 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.4898G>A; p.R1633H; 1:197104353-197104353 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.10275T>C; p.S3425S; 1:197086859-197086859 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.8823T>A; p.A2941A; 1:197096162-197096162 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.7725G>A; p.K2575K; 1:197101526-197101526 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.1552A>G; p.K518E; 1:197142700-197142700 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.9577C>T; p.R3193C; 1:197090909-197090909 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.10095C>T; p.G3365G; 1:197088322-197088322 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.9577C>T; p.R3193C; 1:197090909-197090909 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2561G>A; p.R854H; 1:197129983-197129983 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2625A>G; p.R875R; 1:197129919-197129919 |
liver | carcinoma | Substitution - coding silent |
c.8048A>G; p.K2683R; 1:197101203-197101203 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2625A>G; p.R875R; 1:197129919-197129919 |
liver | carcinoma | Substitution - coding silent |
c.3146G>A; p.W1049*; 1:197124892-197124892 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.4153A>G; p.I1385V; 1:197105098-197105098 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.304G>T; p.E102*; 1:197144094-197144094 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.2625A>G; p.R875R; 1:197129919-197129919 |
liver | carcinoma | Substitution - coding silent |
c.9061C>G; p.H3021D; 1:197094107-197094107 |
breast | carcinoma | Substitution - Missense |
c.2824C>T; p.R942C; 1:197128602-197128602 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2824C>T; p.R942C; 1:197128602-197128602 |
skin | malignant_melanoma | Substitution - Missense |
c.897C>A; p.T299T; 1:197143355-197143355 |
breast | carcinoma | Substitution - coding silent |
c.5801G>C; p.W1934S; 1:197103450-197103450 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.9730C>T; p.R3244*; 1:197090295-197090295 |
pancreas | carcinoma | Substitution - Nonsense |
c.8379G>A; p.M2793I; 1:197100872-197100872 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.9730C>T; p.R3244*; 1:197090295-197090295 |
skin; mucosal | malignant_melanoma | Substitution - Nonsense |
c.4000A>C; p.K1334Q; 1:197117854-197117854 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1766C>G; p.A589G; 1:197142486-197142486 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.6990G>T; p.R2330S; 1:197102261-197102261 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.6332G>A; p.R2111K; 1:197102919-197102919 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.4504C>A; p.Q1502K; 1:197104747-197104747 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.8940T>C; p.A2980A; 1:197096045-197096045 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4008A>G; p.L1336L; 1:197117846-197117846 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.893T>C; p.L298P; 1:197143359-197143359 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5849C>T; p.A1950V; 1:197103402-197103402 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2583A>G; p.I861M; 1:197129961-197129961 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1157C>T; p.S386L; 1:197143095-197143095 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.7050A>G; p.L2350L; 1:197102201-197102201 |
liver | carcinoma | Substitution - coding silent |
c.3301A>G; p.R1101G; 1:197124199-197124199 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2647T>C; p.S883P; 1:197129300-197129300 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2647T>C; p.S883P; 1:197129300-197129300 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2647T>C; p.S883P; 1:197129300-197129300 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2647T>C; p.S883P; 1:197129300-197129300 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2560C>T; p.R854C; 1:197129984-197129984 |
liver | carcinoma | Substitution - Missense |
c.5304G>A; p.R1768R; 1:197103947-197103947 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2498G>A; p.G833E; 1:197130046-197130046 |
breast | carcinoma | Substitution - Missense |
c.5000G>A; p.R1667H; 1:197104251-197104251 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4029G>A; p.L1343L; 1:197117825-197117825 |
skin | malignant_melanoma | Substitution - coding silent |
c.2647T>C; p.S883P; 1:197129300-197129300 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.50A>T; p.E17V; 1:197146388-197146388 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.2647T>C; p.S883P; 1:197129300-197129300 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.101C>G; p.S34C; 1:197146337-197146337 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.7598C>T; p.S2533F; 1:197101653-197101653 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.9368G>A; p.R3123K; 1:197091983-197091983 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.8228G>A; p.R2743Q; 1:197101023-197101023 |
skin | malignant_melanoma | Substitution - Missense |
c.8917G>T; p.E2973*; 1:197096068-197096068 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.4265C>T; p.S1422L; 1:197104986-197104986 |
skin | malignant_melanoma | Substitution - Missense |
c.3845T>C; p.L1282P; 1:197121940-197121940 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.8228G>A; p.R2743Q; 1:197101023-197101023 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.8917G>T; p.E2973*; 1:197096068-197096068 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.6879G>C; p.Q2293H; 1:197102372-197102372 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.855T>A; p.N285K; 1:197143397-197143397 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4065G>A; p.Q1355Q; 1:197117789-197117789 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.9984+2T>C; p.?; 1:197089928-197089928 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.10428T>G; p.P3476P; 1:197084330-197084330 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2035A>G; p.R679G; 1:197135234-197135234 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.5628delA; p.A1877fs*2; 1:197103623-197103623 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.5603G>T; p.R1868I; 1:197103648-197103648 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.8263A>G; p.R2755G; 1:197100988-197100988 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Substitution - Missense |
c.3183T>C; p.L1061L; 1:197124317-197124317 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.1277C>A; p.P426H; 1:197142975-197142975 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.5603G>T; p.R1868I; 1:197103648-197103648 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1573G>T; p.V525L; 1:197142679-197142679 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2476A>G; p.I826V; 1:197132296-197132296 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2695T>C; p.Y899H; 1:197129252-197129252 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.9787T>A; p.Y3263N; 1:197090238-197090238 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.6784A>C; p.M2262L; 1:197102467-197102467 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.5236A>C; p.K1746Q; 1:197104015-197104015 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4213C>T; p.R1405C; 1:197105038-197105038 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.8551G>A; p.V2851M; 1:197100700-197100700 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.8904G>A; p.W2968*; 1:197096081-197096081 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.5798C>G; p.A1933G; 1:197103453-197103453 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.9704G>T; p.S3235I; 1:197090321-197090321 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3421G>A; p.G1141S; 1:197122565-197122565 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.5232C>T; p.V1744V; 1:197104019-197104019 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.8639_8640insT; p.L2880fs*4; 1:197100611-197100612 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.5124C>G; p.I1708M; 1:197104127-197104127 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.6380T>C; p.F2127S; 1:197102871-197102871 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4384G>A; p.A1462T; 1:197104867-197104867 |
ovary | other; neoplasm | Substitution - Missense |
c.9410C>A; p.A3137D; 1:197091941-197091941 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.3901T>C; p.L1301L; 1:197117953-197117953 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.5020G>T; p.E1674*; 1:197104231-197104231 |
lung | carcinoma; small_cell_carcinoma | Substitution - Nonsense |
c.626A>C; p.N209T; 1:197143626-197143626 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4953G>A; p.M1651I; 1:197104298-197104298 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.9237T>A; p.F3079L; 1:197093109-197093109 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3397A>G; p.N1133D; 1:197122589-197122589 |
liver | carcinoma | Substitution - Missense |
c.7869A>C; p.E2623D; 1:197101382-197101382 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.4484A>C; p.Q1495P; 1:197104767-197104767 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.6034G>T; p.E2012*; 1:197103217-197103217 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.3397A>G; p.N1133D; 1:197122589-197122589 |
liver | carcinoma | Substitution - Missense |
c.8729G>A; p.R2910K; 1:197100522-197100522 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3938G>T; p.R1313I; 1:197117916-197117916 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1216A>G; p.T406A; 1:197143036-197143036 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.217G>A; p.E73K; 1:197146221-197146221 |
liver | carcinoma | Substitution - Missense |
c.9454C>T; p.R3152*; 1:197091032-197091032 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.8903G>A; p.W2968*; 1:197096082-197096082 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.2993C>T; p.P998L; 1:197125135-197125135 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.9454C>T; p.R3152*; 1:197091032-197091032 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.7857_7858insA; p.Q2620fs*17; 1:197101393-197101394 |
large_intestine; caecum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.9454C>T; p.R3152*; 1:197091032-197091032 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Nonsense |
c.217G>A; p.E73K; 1:197146221-197146221 |
liver | carcinoma | Substitution - Missense |
c.8288_8289delAG; p.E2763fs*8; 1:197100962-197100963 |
oesophagus | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.5537C>T; p.S1846F; 1:197103714-197103714 |
skin | malignant_melanoma | Substitution - Missense |
c.6222G>A; p.Q2074Q; 1:197103029-197103029 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.8820+2T>C; p.?; 1:197100429-197100429 |
ovary | other; neoplasm | Unknown |
c.297+1G>T; p.?; 1:197146140-197146140 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.6892G>A; p.A2298T; 1:197102359-197102359 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.5184G>T; p.M1728I; 1:197104067-197104067 |
breast | carcinoma | Substitution - Missense |
c.3156G>T; p.A1052A; 1:197124882-197124882 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.9254T>C; p.I3085T; 1:197093092-197093092 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.10243G>T; p.E3415*; 1:197086891-197086891 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.749T>G; p.L250R; 1:197143503-197143503 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.9592C>T; p.R3198C; 1:197090894-197090894 |
skin | malignant_melanoma | Substitution - Missense |
c.10179delC; p.V3395fs*18; 1:197086955-197086955 |
breast | carcinoma | Deletion - Frameshift |
c.8756G>A; p.R2919K; 1:197100495-197100495 |
skin | malignant_melanoma | Substitution - Missense |
c.8756G>A; p.R2919K; 1:197100495-197100495 |
skin | malignant_melanoma | Substitution - Missense |
c.6043C>A; p.H2015N; 1:197103208-197103208 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4400C>T; p.S1467F; 1:197104851-197104851 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.5926A>T; p.I1976F; 1:197103325-197103325 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2612C>T; p.P871L; 1:197129932-197129932 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2013delA; p.K671fs*3; 1:197139780-197139780 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.9368G>T; p.R3123I; 1:197091983-197091983 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.7595A>T; p.H2532L; 1:197101656-197101656 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2544T>C; p.A848A; 1:197130000-197130000 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.9108C>T; p.I3036I; 1:197093238-197093238 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3463T>G; p.Y1155D; 1:197122523-197122523 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.8089T>C; p.S2697P; 1:197101162-197101162 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3463T>G; p.Y1155D; 1:197122523-197122523 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3015G>A; p.K1005K; 1:197125113-197125113 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3463T>G; p.Y1155D; 1:197122523-197122523 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.3463T>G; p.Y1155D; 1:197122523-197122523 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.8313C>T; p.N2771N; 1:197100938-197100938 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4180C>A; p.L1394I; 1:197105071-197105071 |
breast | carcinoma | Substitution - Missense |
c.1563C>A; p.L521L; 1:197142689-197142689 |
breast | carcinoma | Substitution - coding silent |
c.415A>C; p.N139H; 1:197143983-197143983 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.10274C>T; p.S3425F; 1:197086860-197086860 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3193C>T; p.Q1065*; 1:197124307-197124307 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.5355T>C; p.Y1785Y; 1:197103896-197103896 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.6288A>T; p.T2096T; 1:197102963-197102963 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.10219G>T; p.A3407S; 1:197086915-197086915 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.7684A>G; p.S2562G; 1:197101567-197101567 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.10112A>C; p.K3371T; 1:197088305-197088305 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.7684A>G; p.S2562G; 1:197101567-197101567 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3847A>G; p.K1283E; 1:197121938-197121938 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2869C>T; p.P957S; 1:197128557-197128557 |
skin | malignant_melanoma | Substitution - Missense |
c.9029A>T; p.K3010I; 1:197094139-197094139 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.7684A>G; p.S2562G; 1:197101567-197101567 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.8953C>A; p.Q2985K; 1:197096032-197096032 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.6353G>T; p.R2118M; 1:197102898-197102898 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.7015A>C; p.T2339P; 1:197102236-197102236 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.9660G>T; p.W3220C; 1:197090365-197090365 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1780A>G; p.T594A; 1:197142472-197142472 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.8876G>T; p.C2959F; 1:197096109-197096109 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.6581C>T; p.T2194I; 1:197102670-197102670 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.9731G>A; p.R3244Q; 1:197090294-197090294 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.1792G>C; p.E598Q; 1:197142460-197142460 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.5860C>G; p.L1954V; 1:197103391-197103391 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.9731G>A; p.R3244Q; 1:197090294-197090294 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.7634A>G; p.K2545R; 1:197101617-197101617 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.6957G>A; p.Q2319Q; 1:197102294-197102294 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5186G>T; p.R1729L; 1:197104065-197104065 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.8188A>C; p.T2730P; 1:197101063-197101063 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.8889C>T; p.A2963A; 1:197096096-197096096 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2922T>G; p.C974W; 1:197128504-197128504 |
ovary | carcinoma | Substitution - Missense |
c.4426A>T; p.R1476*; 1:197104825-197104825 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.8295G>T; p.K2765N; 1:197100956-197100956 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.3961G>T; p.V1321F; 1:197117893-197117893 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3004C>T; p.R1002C; 1:197125124-197125124 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.444G>C; p.R148S; 1:197143808-197143808 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4121C>T; p.S1374L; 1:197105130-197105130 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.7287C>T; p.S2429S; 1:197101964-197101964 |
skin | malignant_melanoma | Substitution - coding silent |
c.7346A>G; p.H2449R; 1:197101905-197101905 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.7324C>T; p.R2442*; 1:197101927-197101927 |
skin | malignant_melanoma | Substitution - Nonsense |
c.4136C>T; p.S1379F; 1:197105115-197105115 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.7324C>T; p.R2442*; 1:197101927-197101927 |
skin | malignant_melanoma | Substitution - Nonsense |
c.7782G>A; p.Q2594Q; 1:197101469-197101469 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.5448A>T; p.K1816N; 1:197103803-197103803 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.5225_5226insGATA; p.Y1742fs*1; 1:197104025-197104026 |
liver | carcinoma | Insertion - Frameshift |
c.1469G>A; p.R490H; 1:197142783-197142783 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.9860G>A; p.C3287Y; 1:197090054-197090054 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3351G>A; p.M1117I; 1:197124149-197124149 |
skin | malignant_melanoma | Substitution - Missense |
c.6166G>C; p.A2056P; 1:197103085-197103085 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.5414C>A; p.A1805D; 1:197103837-197103837 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.7640G>A; p.R2547K; 1:197101611-197101611 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.7724A>G; p.K2575R; 1:197101527-197101527 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.7640G>A; p.R2547K; 1:197101611-197101611 |
pancreas | carcinoma | Substitution - Missense |
c.5414C>A; p.A1805D; 1:197103837-197103837 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.7724A>G; p.K2575R; 1:197101527-197101527 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2474G>A; p.R825Q; 1:197132298-197132298 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.7698G>T; p.M2566I; 1:197101553-197101553 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.9817T>C; p.L3273L; 1:197090208-197090208 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.7544G>A; p.R2515Q; 1:197101707-197101707 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.7544G>A; p.R2515Q; 1:197101707-197101707 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3742-3_3742-2insT; p.?; 1:197122045-197122046 |
large_intestine; caecum | carcinoma; adenocarcinoma | Unknown |
c.7258T>C; p.S2420P; 1:197101993-197101993 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.10314delG; p.T3439fs*3; 1:197086820-197086820 |
lung | carcinoma; small_cell_carcinoma | Deletion - Frameshift |
c.6102G>T; p.M2034I; 1:197103149-197103149 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4822_4823insG; p.A1608fs*37; 1:197104428-197104429 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.8397A>C; p.K2799N; 1:197100854-197100854 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.8896A>G; p.R2966G; 1:197096089-197096089 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.7083C>A; p.S2361S; 1:197102168-197102168 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.8397A>C; p.K2799N; 1:197100854-197100854 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.8896A>G; p.R2966G; 1:197096089-197096089 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2760+2T>C; p.?; 1:197129185-197129185 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.9449G>T; p.W3150L; 1:197091037-197091037 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.7538A>G; p.H2513R; 1:197101713-197101713 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2575C>T; p.P859S; 1:197129969-197129969 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.7282A>T; p.I2428F; 1:197101969-197101969 |
prostate | carcinoma | Substitution - Missense |
c.2377C>T; p.R793W; 1:197133392-197133392 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.8392T>C; p.Y2798H; 1:197100859-197100859 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4083T>A; p.Y1361*; 1:197105168-197105168 |
breast | carcinoma | Substitution - Nonsense |
c.5723T>G; p.F1908C; 1:197103528-197103528 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.349C>T; p.R117*; 1:197144049-197144049 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.3496A>T; p.T1166S; 1:197122490-197122490 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.7074A>G; p.K2358K; 1:197102177-197102177 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5366A>C; p.K1789T; 1:197103885-197103885 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.8253C>T; p.G2751G; 1:197100998-197100998 |
oesophagus | carcinoma | Substitution - coding silent |
c.464A>C; p.K155T; 1:197143788-197143788 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.6439C>A; p.Q2147K; 1:197102812-197102812 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.9094G>A; p.A3032T; 1:197093252-197093252 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5009T>C; p.V1670A; 1:197104242-197104242 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.7138C>T; p.H2380Y; 1:197102113-197102113 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4369C>T; p.H1457Y; 1:197104882-197104882 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.6235G>T; p.G2079C; 1:197103016-197103016 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.679G>A; p.A227T; 1:197143573-197143573 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5586G>C; p.K1862N; 1:197103665-197103665 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.1282G>A; p.D428N; 1:197142970-197142970 |
oesophagus | carcinoma | Substitution - Missense |
c.7586G>A; p.R2529K; 1:197101665-197101665 |
breast | carcinoma | Substitution - Missense |
c.4425T>C; p.Y1475Y; 1:197104826-197104826 |
liver | carcinoma | Substitution - coding silent |
c.7444A>C; p.R2482R; 1:197101807-197101807 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4425T>C; p.Y1475Y; 1:197104826-197104826 |
liver | carcinoma | Substitution - coding silent |
c.975T>C; p.S325S; 1:197143277-197143277 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.4214G>T; p.R1405L; 1:197105037-197105037 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.9698G>A; p.R3233Q; 1:197090327-197090327 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.7691A>G; p.Y2564C; 1:197101560-197101560 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.5084G>A; p.R1695H; 1:197104167-197104167 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.2482C>G; p.L828V; 1:197132290-197132290 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.8616G>T; p.T2872T; 1:197100635-197100635 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.128A>T; p.H43L; 1:197146310-197146310 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.4090A>G; p.R1364G; 1:197105161-197105161 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.3671T>G; p.V1224G; 1:197122229-197122229 |
prostate | adenoma | Substitution - Missense |
c.4090A>G; p.R1364G; 1:197105161-197105161 |
liver | carcinoma | Substitution - Missense |
c.5615delT; p.L1872fs*1; 1:197103636-197103636 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.3138G>A; p.R1046R; 1:197124900-197124900 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.7154G>T; p.R2385I; 1:197102097-197102097 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1095T>G; p.I365M; 1:197143157-197143157 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4062T>G; p.I1354M; 1:197117792-197117792 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.4062T>G; p.I1354M; 1:197117792-197117792 |
pancreas | pancreatic_intraepithelial_neoplasia_(PanIN) | Substitution - Missense |
c.8601G>T; p.Q2867H; 1:197100650-197100650 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5308T>G; p.Y1770D; 1:197103943-197103943 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.5047A>G; p.I1683V; 1:197104204-197104204 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.8448G>C; p.R2816S; 1:197100803-197100803 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.2275C>T; p.R759W; 1:197133494-197133494 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.6488A>G; p.Y2163C; 1:197102763-197102763 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.6539T>A; p.V2180E; 1:197102712-197102712 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2825G>A; p.R942H; 1:197128601-197128601 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3116G>T; p.R1039M; 1:197124922-197124922 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.8402C>T; p.S2801F; 1:197100849-197100849 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2825G>A; p.R942H; 1:197128601-197128601 |
skin | malignant_melanoma | Substitution - Missense |
c.6335A>T; p.H2112L; 1:197102916-197102916 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1138C>G; p.Q380E; 1:197143114-197143114 |
breast | carcinoma | Substitution - Missense |
c.3155C>T; p.A1052V; 1:197124883-197124883 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2571G>A; p.W857*; 1:197129973-197129973 |
skin; scalp | malignant_melanoma | Substitution - Nonsense |
c.3155C>T; p.A1052V; 1:197124883-197124883 |
skin | malignant_melanoma | Substitution - Missense |
c.10313G>T; p.R3438M; 1:197086821-197086821 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.7177G>T; p.A2393S; 1:197102074-197102074 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.4495C>T; p.R1499W; 1:197104756-197104756 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4495C>T; p.R1499W; 1:197104756-197104756 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.6492G>A; p.L2164L; 1:197102759-197102759 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.7632G>A; p.M2544I; 1:197101619-197101619 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4548C>T; p.T1516T; 1:197104703-197104703 |
skin | malignant_melanoma | Substitution - coding silent |
c.6924C>T; p.F2308F; 1:197102327-197102327 |
skin | malignant_melanoma | Substitution - coding silent |
c.4495C>T; p.R1499W; 1:197104756-197104756 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1980C>T; p.I660I; 1:197139813-197139813 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1837G>A; p.A613T; 1:197142415-197142415 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3996G>C; p.Q1332H; 1:197117858-197117858 |
breast | carcinoma | Substitution - Missense |
c.9870G>T; p.M3290I; 1:197090044-197090044 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1980C>T; p.I660I; 1:197139813-197139813 |
pancreas | carcinoma | Substitution - coding silent |
c.1966A>G; p.T656A; 1:197139827-197139827 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.6318T>C; p.G2106G; 1:197102933-197102933 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2134A>G; p.T712A; 1:197135135-197135135 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.247C>A; p.P83T; 1:197146191-197146191 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.6623A>T; p.Y2208F; 1:197102628-197102628 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.3113A>G; p.D1038G; 1:197124925-197124925 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.8808C>T; p.T2936T; 1:197100443-197100443 |
breast | carcinoma | Substitution - coding silent |
c.8287G>A; p.E2763K; 1:197100964-197100964 |
large_intestine; colon | adenoma | Substitution - Missense |
c.2101C>T; p.Q701*; 1:197135168-197135168 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.5510G>A; p.G1837D; 1:197103741-197103741 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5811A>G; p.G1937G; 1:197103440-197103440 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2191C>T; p.L731F; 1:197133578-197133578 |
skin | malignant_melanoma | Substitution - Missense |
c.9144C>G; p.V3048V; 1:197093202-197093202 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.9144C>G; p.V3048V; 1:197093202-197093202 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.9333C>T; p.F3111F; 1:197092018-197092018 |
breast | carcinoma | Substitution - coding silent |
c.8508G>T; p.Q2836H; 1:197100743-197100743 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.10338G>C; p.K3446N; 1:197084420-197084420 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.10338G>C; p.K3446N; 1:197084420-197084420 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.5889G>T; p.L1963L; 1:197103362-197103362 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.9461G>T; p.R3154I; 1:197091025-197091025 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.10338G>C; p.K3446N; 1:197084420-197084420 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.10338G>C; p.K3446N; 1:197084420-197084420 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.10338G>C; p.K3446N; 1:197084420-197084420 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.10338G>C; p.K3446N; 1:197084420-197084420 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.9189A>T; p.I3063I; 1:197093157-197093157 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.10338G>C; p.K3446N; 1:197084420-197084420 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.5000G>T; p.R1667L; 1:197104251-197104251 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.10338G>C; p.K3446N; 1:197084420-197084420 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.5601A>G; p.T1867T; 1:197103650-197103650 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5601A>G; p.T1867T; 1:197103650-197103650 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.10338G>C; p.K3446N; 1:197084420-197084420 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.8791G>C; p.E2931Q; 1:197100460-197100460 |
breast | carcinoma | Substitution - Missense |
c.5601A>G; p.T1867T; 1:197103650-197103650 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4467T>G; p.S1489S; 1:197104784-197104784 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.10338G>C; p.K3446N; 1:197084420-197084420 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.10338G>C; p.K3446N; 1:197084420-197084420 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.10338G>C; p.K3446N; 1:197084420-197084420 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.9189A>T; p.I3063I; 1:197093157-197093157 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2188C>A; p.L730I; 1:197133581-197133581 |
breast | carcinoma | Substitution - Missense |
c.1693T>A; p.S565T; 1:197142559-197142559 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.668C>A; p.P223H; 1:197143584-197143584 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1692C>A; p.P564P; 1:197142560-197142560 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.5537C>A; p.S1846Y; 1:197103714-197103714 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3652C>G; p.H1218D; 1:197122248-197122248 |
skin | malignant_melanoma | Substitution - Missense |
c.3816C>G; p.L1272L; 1:197121969-197121969 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3996G>A; p.Q1332Q; 1:197117858-197117858 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2674T>C; p.L892L; 1:197129273-197129273 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1668G>T; p.K556N; 1:197142584-197142584 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3380A>T; p.Y1127F; 1:197124120-197124120 |
kidney | other; neoplasm | Substitution - Missense |
c.9443A>C; p.Q3148P; 1:197091908-197091908 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.9616A>G; p.S3206G; 1:197090870-197090870 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.7167G>T; p.V2389V; 1:197102084-197102084 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5672G>T; p.R1891L; 1:197103579-197103579 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1969A>C; p.K657Q; 1:197139824-197139824 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2448G>C; p.L816L; 1:197132324-197132324 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.826G>T; p.V276L; 1:197143426-197143426 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.876G>A; p.E292E; 1:197143376-197143376 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4441_4443delTTA; p.L1481delL; 1:197104808-197104810 |
skin; scalp | malignant_melanoma | Deletion - In frame |
c.9831G>A; p.E3277E; 1:197090083-197090083 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.8705A>G; p.Q2902R; 1:197100546-197100546 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1416T>A; p.F472L; 1:197142836-197142836 |
skin | malignant_melanoma | Substitution - Missense |
c.3648T>A; p.N1216K; 1:197122252-197122252 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.8579A>C; p.K2860T; 1:197100672-197100672 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.5648C>T; p.S1883F; 1:197103603-197103603 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.9969G>A; p.L3323L; 1:197089945-197089945 |
breast | carcinoma | Substitution - coding silent |
c.6813G>A; p.R2271R; 1:197102438-197102438 |
skin | malignant_melanoma | Substitution - coding silent |
c.6787C>T; p.H2263Y; 1:197102464-197102464 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.6786G>T; p.M2262I; 1:197102465-197102465 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.8271A>T; p.K2757N; 1:197100980-197100980 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.8884C>G; p.Q2962E; 1:197096101-197096101 |
breast | carcinoma | Substitution - Missense |
c.72G>A; p.L24L; 1:197146366-197146366 |
thyroid | carcinoma | Substitution - coding silent |
c.8760T>C; p.S2920S; 1:197100491-197100491 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4784A>G; p.K1595R; 1:197104467-197104467 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.9151C>T; p.R3051W; 1:197093195-197093195 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.9151C>T; p.R3051W; 1:197093195-197093195 |
breast | carcinoma | Substitution - Missense |
c.1949C>G; p.S650C; 1:197139844-197139844 |
bone; pelvis | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.5738C>T; p.A1913V; 1:197103513-197103513 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2835C>A; p.G945G; 1:197128591-197128591 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.8122T>C; p.Y2708H; 1:197101129-197101129 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.8122T>C; p.Y2708H; 1:197101129-197101129 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.7085T>C; p.V2362A; 1:197102166-197102166 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.8236C>A; p.Q2746K; 1:197101015-197101015 |
kidney | other; neoplasm | Substitution - Missense |
c.8336G>T; p.R2779I; 1:197100915-197100915 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.10144A>T; p.T3382S; 1:197088273-197088273 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.6363T>C; p.T2121T; 1:197102888-197102888 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - coding silent |
c.790G>T; p.A264S; 1:197143462-197143462 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.715C>G; p.L239V; 1:197143537-197143537 |
ovary | other; neoplasm | Substitution - Missense |
c.2757C>G; p.F919L; 1:197129190-197129190 |
breast | carcinoma | Substitution - Missense |
c.715C>G; p.L239V; 1:197143537-197143537 |
ovary | other; neoplasm | Substitution - Missense |
c.9262G>A; p.A3088T; 1:197093084-197093084 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.6925C>T; p.L2309F; 1:197102326-197102326 |
skin | malignant_melanoma | Substitution - Missense |
c.5167_5168delGA; p.E1723fs*17; 1:197104083-197104084 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.1835C>T; p.S612L; 1:197142417-197142417 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.6551G>A; p.R2184Q; 1:197102700-197102700 |
breast | carcinoma | Substitution - Missense |
c.2767_2768delAA; p.K923fs*14; 1:197128658-197128659 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Deletion - Frameshift |
c.2098G>A; p.E700K; 1:197135171-197135171 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.10384C>T; p.P3462S; 1:197084374-197084374 |
pancreas | carcinoma | Substitution - Missense |
c.9474G>T; p.K3158N; 1:197091012-197091012 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2173G>T; p.V725L; 1:197135096-197135096 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.7674C>T; p.I2558I; 1:197101577-197101577 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.7674C>T; p.I2558I; 1:197101577-197101577 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.7674C>T; p.I2558I; 1:197101577-197101577 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.5261C>T; p.A1754V; 1:197103990-197103990 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.8013T>C; p.C2671C; 1:197101238-197101238 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4309C>T; p.R1437C; 1:197104942-197104942 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.6962C>T; p.S2321L; 1:197102289-197102289 |
skin | malignant_melanoma | Substitution - Missense |
c.3481A>T; p.I1161L; 1:197122505-197122505 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.10193G>A; p.R3398H; 1:197086941-197086941 |
pancreas | other; adenoma | Substitution - Missense |
c.8803A>G; p.S2935G; 1:197100448-197100448 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.7305T>C; p.I2435I; 1:197101946-197101946 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.7305T>C; p.I2435I; 1:197101946-197101946 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3984A>G; p.R1328R; 1:197117870-197117870 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.6095G>C; p.R2032P; 1:197103156-197103156 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.7305T>C; p.I2435I; 1:197101946-197101946 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4066-4C>T; p.?; 1:197105189-197105189 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Unknown |
c.7305T>C; p.I2435I; 1:197101946-197101946 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.8811A>G; p.I2937M; 1:197100440-197100440 |
breast | carcinoma | Substitution - Missense |
c.8952T>C; p.I2984I; 1:197096033-197096033 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.8952T>C; p.I2984I; 1:197096033-197096033 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.7229C>T; p.S2410F; 1:197102022-197102022 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.121C>A; p.L41I; 1:197146317-197146317 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1697C>T; p.S566L; 1:197142555-197142555 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.9355C>A; p.L3119M; 1:197091996-197091996 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.5270C>T; p.S1757L; 1:197103981-197103981 |
skin | malignant_melanoma | Substitution - Missense |
c.2911G>T; p.D971Y; 1:197128515-197128515 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.4474G>A; p.V1492I; 1:197104777-197104777 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.9923G>A; p.R3308H; 1:197089991-197089991 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.244T>G; p.F82V; 1:197146194-197146194 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.6144C>A; p.V2048V; 1:197103107-197103107 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.2503C>A; p.L835I; 1:197130041-197130041 |
skin | malignant_melanoma | Substitution - Missense |
c.6452G>C; p.R2151T; 1:197102799-197102799 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4829T>C; p.V1610A; 1:197104422-197104422 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1949C>A; p.S650Y; 1:197139844-197139844 |
breast | carcinoma | Substitution - Missense |
c.2709C>T; p.S903S; 1:197129238-197129238 |
skin | malignant_melanoma | Substitution - coding silent |
c.8372G>T; p.G2791V; 1:197100879-197100879 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.6961T>G; p.S2321A; 1:197102290-197102290 |
thyroid | carcinoma; papillary_carcinoma | Substitution - Missense |
c.4829T>C; p.V1610A; 1:197104422-197104422 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5976C>G; p.I1992M; 1:197103275-197103275 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.5739C>T; p.A1913A; 1:197103512-197103512 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.9610T>A; p.F3204I; 1:197090876-197090876 |
breast | carcinoma | Substitution - Missense |
c.5174A>G; p.Y1725C; 1:197104077-197104077 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.7939C>A; p.L2647I; 1:197101312-197101312 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.7939C>A; p.L2647I; 1:197101312-197101312 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.7137G>A; p.Q2379Q; 1:197102114-197102114 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.234G>A; p.K78K; 1:197146204-197146204 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.7082C>T; p.S2361F; 1:197102169-197102169 |
breast | carcinoma | Substitution - Missense |
c.6674C>A; p.A2225E; 1:197102577-197102577 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.688G>A; p.E230K; 1:197143564-197143564 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.7082C>T; p.S2361F; 1:197102169-197102169 |
skin | malignant_melanoma | Substitution - Missense |
c.3799A>G; p.I1267V; 1:197121986-197121986 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.9549G>C; p.R3183S; 1:197090937-197090937 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.6232C>T; p.R2078*; 1:197103019-197103019 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.3871G>C; p.E1291Q; 1:197117983-197117983 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.4849C>T; p.R1617*; 1:197104402-197104402 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.5149_5150insA; p.I1717fs*24; 1:197104101-197104102 |
large_intestine; caecum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.5149_5150insA; p.I1717fs*24; 1:197104101-197104102 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.10376T>C; p.I3459T; 1:197084382-197084382 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.6232C>T; p.R2078*; 1:197103019-197103019 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.3871G>C; p.E1291Q; 1:197117983-197117983 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.8236C>T; p.Q2746*; 1:197101015-197101015 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1540A>G; p.K514E; 1:197142712-197142712 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.8467A>C; p.K2823Q; 1:197100784-197100784 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1540A>G; p.K514E; 1:197142712-197142712 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.7063C>G; p.Q2355E; 1:197102188-197102188 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3740delA; p.K1247fs*21; 1:197122160-197122160 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1594A>T; p.I532L; 1:197142658-197142658 |
pancreas | carcinoma | Substitution - Missense |
c.5615_5616insT; p.L1872fs*24; 1:197103635-197103636 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.9424A>T; p.N3142Y; 1:197091927-197091927 |
ovary | carcinoma | Substitution - Missense |
c.1594A>T; p.I532L; 1:197142658-197142658 |
pancreas | carcinoma | Substitution - Missense |
c.10292T>G; p.F3431C; 1:197086842-197086842 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.8405G>T; p.G2802V; 1:197100846-197100846 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.7985C>T; p.T2662I; 1:197101266-197101266 |
skin; extremity | malignant_melanoma | Substitution - Missense |
c.7865A>T; p.Q2622L; 1:197101386-197101386 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.9286C>T; p.R3096*; 1:197093060-197093060 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1468C>T; p.R490C; 1:197142784-197142784 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.7663A>G; p.K2555E; 1:197101588-197101588 |
skin | malignant_melanoma | Substitution - Missense |
c.3197T>G; p.L1066*; 1:197124303-197124303 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.6074T>C; p.V2025A; 1:197103177-197103177 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.462T>A; p.I154I; 1:197143790-197143790 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.7845G>A; p.M2615I; 1:197101406-197101406 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3165T>C; p.F1055F; 1:197124873-197124873 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5067T>C; p.V1689V; 1:197104184-197104184 |
skin | malignant_melanoma | Substitution - coding silent |
c.5384G>T; p.R1795M; 1:197103867-197103867 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.10177T>C; p.S3393P; 1:197086957-197086957 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.4491A>T; p.R1497S; 1:197104760-197104760 |
oesophagus | carcinoma | Substitution - Missense |
c.4968C>G; p.L1656L; 1:197104283-197104283 |
breast | carcinoma | Substitution - coding silent |
c.3863G>A; p.R1288H; 1:197121922-197121922 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3436T>C; p.Y1146H; 1:197122550-197122550 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.5801G>T; p.W1934L; 1:197103450-197103450 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3436T>C; p.Y1146H; 1:197122550-197122550 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.7084G>A; p.V2362I; 1:197102167-197102167 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1513A>G; p.T505A; 1:197142739-197142739 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2275C>A; p.R759R; 1:197133494-197133494 |
breast | carcinoma | Substitution - coding silent |