| Gene information | Literature | Expression | lncRNA | Mutation | Homolog |
Basic Information | |
|---|---|
Gene ID | 4855 |
Name | NOTCH4 |
Synonymous | notch 4;NOTCH4;notch 4 |
Definition | Notch homolog 4|neurogenic locus notch homolog protein 4 |
Position | 6p21.3 |
Gene Type | protein-coding |
COSMIC confirmed somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.4283C>A; p.P1428Q; 6:32200863-32200863 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Substitution - Missense |
c.3005G>A; p.R1002H; 6:32204250-32204250 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.367C>T; p.P123S; 6:32222595-32222595 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.2833T>C; p.C945R; 6:32210784-32210784 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.96A>C; p.P32P; 6:32223064-32223064 |
bone; extraskeletal | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.2220T>G; p.N740K; 6:32213788-32213788 |
bone; humerus | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.3263C>T; p.A1088V; 6:32202568-32202568 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.1044C>G; p.G348G; 6:32220520-32220520 |
breast | carcinoma | Substitution - coding silent |
c.5929G>A; p.E1977K; 6:32195520-32195520 |
breast | carcinoma; HER-positive_carcinoma | Substitution - Missense |
c.178G>C; p.E60Q; 6:32222784-32222784 |
breast | carcinoma | Substitution - Missense |
c.4735G>C; p.D1579H; 6:32198442-32198442 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.2483C>T; p.P828L; 6:32212867-32212867 |
breast | carcinoma | Substitution - Missense |
c.742A>C; p.T248P; 6:32221035-32221035 |
breast | carcinoma | Substitution - Missense |
c.47_48insGCT; p.L16_C17insL; 6:32223881-32223882 |
breast | carcinoma | Insertion - In frame |
c.1282A>C; p.T428P; 6:32220162-32220162 |
breast | carcinoma | Substitution - Missense |
c.1162C>A; p.L388I; 6:32220282-32220282 |
breast | carcinoma | Substitution - Missense |
c.1271A>G; p.Y424C; 6:32220173-32220173 |
breast | carcinoma | Substitution - Missense |
c.3912C>A; p.S1304R; 6:32201344-32201344 |
breast | carcinoma | Substitution - Missense |
c.87G>C; p.G29G; 6:32223073-32223073 |
breast | carcinoma | Substitution - coding silent |
c.1875G>C; p.E625D; 6:32215372-32215372 |
breast | carcinoma | Substitution - Missense |
c.905G>T; p.C302F; 6:32220773-32220773 |
breast | carcinoma | Substitution - Missense |
c.958A>G; p.T320A; 6:32220606-32220606 |
breast | carcinoma | Substitution - Missense |
c.5929G>C; p.E1977Q; 6:32195520-32195520 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.5929G>C; p.E1977Q; 6:32195520-32195520 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.4691C>T; p.A1564V; 6:32198486-32198486 |
breast | carcinoma | Substitution - Missense |
c.1278G>T; p.G426G; 6:32220166-32220166 |
breast | carcinoma | Substitution - coding silent |
c.47_48insGCTGCT; p.L16_C17insLL; 6:32223881-32223882 |
breast | carcinoma | Insertion - In frame |
c.2146A>C; p.T716P; 6:32214131-32214131 |
breast | carcinoma | Substitution - Missense |
c.45_47delGCT; p.L16delL; 6:32223882-32223884 |
breast | carcinoma | Deletion - In frame |
c.230G>T; p.G77V; 6:32222732-32222732 |
breast | carcinoma | Substitution - Missense |
c.3025G>A; p.E1009K; 6:32204230-32204230 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.4694C>T; p.A1565V; 6:32198483-32198483 |
central_nervous_system; medulla | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.1153C>T; p.R385C; 6:32220411-32220411 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.1045G>A; p.G349S; 6:32220519-32220519 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.1833C>A; p.F611L; 6:32216973-32216973 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma; large_cell | Substitution - Missense |
c.4945G>A; p.A1649T; 6:32197406-32197406 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1203C>A; p.C401*; 6:32220241-32220241 |
central_nervous_system; brain | glioma | Substitution - Nonsense |
c.2087T>C; p.I696T; 6:32214190-32214190 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.439C>T; p.P147S; 6:32222523-32222523 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.4425C>T; p.R1475R; 6:32199036-32199036 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.3826G>T; p.E1276*; 6:32201430-32201430 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Nonsense |
c.414G>A; p.S138S; 6:32222548-32222548 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.419G>A; p.R140H; 6:32222543-32222543 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4241C>T; p.A1414V; 6:32200905-32200905 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.359A>C; p.D120A; 6:32222603-32222603 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2037_2038delTG; p.C679fs*1; 6:32214239-32214240 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - Frameshift |
c.4466G>A; p.R1489Q; 6:32198995-32198995 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3653C>A; p.S1218Y; 6:32202178-32202178 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.5933G>T; p.R1978L; 6:32195516-32195516 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2051C>T; p.T684M; 6:32214226-32214226 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3824C>T; p.A1275V; 6:32201432-32201432 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1137C>T; p.C379C; 6:32220427-32220427 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2401C>T; p.R801C; 6:32213172-32213172 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4795G>T; p.E1599*; 6:32197556-32197556 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.2228C>A; p.S743Y; 6:32213780-32213780 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.45_47delGCT; p.L16delL; 6:32223882-32223884 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - In frame |
c.45_47delGCT; p.L16delL; 6:32223882-32223884 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - In frame |
c.45_47delGCT; p.L16delL; 6:32223882-32223884 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - In frame |
c.3441A>G; p.S1147S; 6:32202390-32202390 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1044C>G; p.G348G; 6:32220520-32220520 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.2824G>A; p.G942R; 6:32210793-32210793 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.3295G>A; p.G1099R; 6:32202536-32202536 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1725C>T; p.C575C; 6:32217166-32217166 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - coding silent |
c.852G>A; p.Q284Q; 6:32220826-32220826 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.349A>C; p.K117Q; 6:32222613-32222613 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1315G>C; p.A439P; 6:32220129-32220129 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.815A>G; p.D272G; 6:32220863-32220863 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.813A>G; p.P271P; 6:32220865-32220865 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.4383C>T; p.A1461A; 6:32199078-32199078 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - coding silent |
c.3931C>T; p.Q1311*; 6:32201325-32201325 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.333T>C; p.G111G; 6:32222629-32222629 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.1753C>T; p.R585C; 6:32217053-32217053 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.5877C>G; p.C1959W; 6:32195572-32195572 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma | Substitution - Missense |
c.4139G>A; p.G1380E; 6:32201117-32201117 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.255C>T; p.P85P; 6:32222707-32222707 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.3450G>A; p.T1150T; 6:32202381-32202381 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.3990G>A; p.R1330R; 6:32201266-32201266 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.3587G>A; p.G1196E; 6:32202244-32202244 |
kidney | other; neoplasm | Substitution - Missense |
c.4812C>T; p.T1604T; 6:32197539-32197539 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.4414C>T; p.R1472W; 6:32199047-32199047 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.813A>G; p.P271P; 6:32220865-32220865 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.588C>T; p.N196N; 6:32221189-32221189 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.4895G>A; p.G1632D; 6:32197456-32197456 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1436G>T; p.C479F; 6:32219666-32219666 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.756delG; p.M252fs*18; 6:32221021-32221021 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Deletion - Frameshift |
c.5251C>T; p.R1751C; 6:32196371-32196371 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.4101G>A; p.T1367T; 6:32201155-32201155 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.731C>T; p.S244L; 6:32221046-32221046 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3561C>T; p.C1187C; 6:32202270-32202270 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4241C>T; p.A1414V; 6:32200905-32200905 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.4241C>T; p.A1414V; 6:32200905-32200905 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2223C>T; p.G741G; 6:32213785-32213785 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1311G>A; p.L437L; 6:32220133-32220133 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3997C>T; p.R1333C; 6:32201259-32201259 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4932C>T; p.F1644F; 6:32197419-32197419 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.499A>G; p.N167D; 6:32221278-32221278 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5974G>T; p.E1992*; 6:32195475-32195475 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2907C>T; p.L969L; 6:32204348-32204348 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2533A>G; p.M845V; 6:32212621-32212621 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1032G>T; p.V344V; 6:32220532-32220532 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1911G>A; p.K637K; 6:32215336-32215336 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1030G>A; p.V344M; 6:32220534-32220534 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.666C>T; p.C222C; 6:32221111-32221111 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.756G>A; p.M252I; 6:32221021-32221021 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2610C>T; p.C870C; 6:32212544-32212544 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1833C>A; p.F611L; 6:32216973-32216973 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1985A>C; p.E662A; 6:32215262-32215262 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3310C>T; p.P1104S; 6:32202521-32202521 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.22C>T; p.L8L; 6:32223907-32223907 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5672delG; p.G1891fs*13; 6:32195777-32195777 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.395G>A; p.R132H; 6:32222567-32222567 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4152C>A; p.V1384V; 6:32200994-32200994 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4152C>A; p.V1384V; 6:32200994-32200994 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.198C>T; p.D66D; 6:32222764-32222764 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1451G>A; p.C484Y; 6:32219651-32219651 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2924A>G; p.Q975R; 6:32204331-32204331 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2650T>C; p.S884P; 6:32212504-32212504 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2491C>A; p.L831I; 6:32212859-32212859 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.5996_5998delGAG; p.G1999delG; 6:32195451-32195453 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - In frame |
c.4519G>A; p.D1507N; 6:32198942-32198942 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.949G>A; p.E317K; 6:32220615-32220615 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.4322delC; p.P1441fs*17; 6:32199139-32199139 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.4322delC; p.P1441fs*17; 6:32199139-32199139 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2463C>T; p.C821C; 6:32212887-32212887 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4399G>A; p.V1467I; 6:32199062-32199062 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2051C>T; p.T684M; 6:32214226-32214226 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2625C>T; p.T875T; 6:32212529-32212529 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.558C>T; p.F186F; 6:32221219-32221219 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3755C>T; p.T1252I; 6:32202076-32202076 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3715C>A; p.L1239M; 6:32202116-32202116 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.5964A>G; p.P1988P; 6:32195485-32195485 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5980C>T; p.P1994S; 6:32195469-32195469 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.4100C>T; p.T1367M; 6:32201156-32201156 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2925A>G; p.Q975Q; 6:32204330-32204330 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3239A>G; p.E1080G; 6:32202592-32202592 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2925A>G; p.Q975Q; 6:32204330-32204330 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3756-1G>C; p.?; 6:32201501-32201501 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.441T>A; p.P147P; 6:32222521-32222521 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1682C>T; p.A561V; 6:32217209-32217209 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.441T>A; p.P147P; 6:32222521-32222521 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3294C>T; p.H1098H; 6:32202537-32202537 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.392delG; p.G131fs*121; 6:32222570-32222570 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2512G>A; p.G838R; 6:32212838-32212838 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2228C>T; p.S743F; 6:32213780-32213780 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.754A>G; p.M252V; 6:32221023-32221023 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4364C>T; p.A1455V; 6:32199097-32199097 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3155G>T; p.S1052I; 6:32203846-32203846 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.577C>T; p.R193C; 6:32221200-32221200 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4986G>A; p.Q1662Q; 6:32197365-32197365 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4420C>T; p.R1474*; 6:32199041-32199041 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.4014G>C; p.M1338I; 6:32201242-32201242 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.4426C>T; p.R1476*; 6:32199035-32199035 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.578G>A; p.R193H; 6:32221199-32221199 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5427A>G; p.Q1809Q; 6:32196022-32196022 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5427A>G; p.Q1809Q; 6:32196022-32196022 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1889C>T; p.A630V; 6:32215358-32215358 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3797G>A; p.G1266E; 6:32201459-32201459 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1820T>C; p.L607P; 6:32216986-32216986 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.182C>T; p.T61M; 6:32222780-32222780 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5504G>A; p.R1835H; 6:32195945-32195945 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1383C>T; p.C461C; 6:32219719-32219719 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.93C>A; p.F31L; 6:32223067-32223067 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.45_47delGCT; p.L16delL; 6:32223882-32223884 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - In frame |
c.255C>T; p.P85P; 6:32222707-32222707 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.203G>T; p.C68F; 6:32222759-32222759 |
liver | carcinoma | Substitution - Missense |
c.4944C>A; p.T1648T; 6:32197407-32197407 |
liver | carcinoma | Substitution - coding silent |
c.4944C>A; p.T1648T; 6:32197407-32197407 |
liver | carcinoma | Substitution - coding silent |
c.1026G>T; p.V342V; 6:32220538-32220538 |
liver | carcinoma | Substitution - coding silent |
c.1026G>T; p.V342V; 6:32220538-32220538 |
liver | carcinoma | Substitution - coding silent |
c.47_48insGCT; p.L16_C17insL; 6:32223881-32223882 |
liver | carcinoma; hepatocellular_carcinoma | Insertion - In frame |
c.4264G>T; p.E1422*; 6:32200882-32200882 |
liver | carcinoma | Substitution - Nonsense |
c.98A>C; p.E33A; 6:32223062-32223062 |
liver | carcinoma | Substitution - Missense |
c.993C>T; p.T331T; 6:32220571-32220571 |
liver | carcinoma | Substitution - coding silent |
c.5021C>A; p.A1674D; 6:32197330-32197330 |
liver | carcinoma | Substitution - Missense |
c.4947T>C; p.A1649A; 6:32197404-32197404 |
liver | carcinoma | Substitution - coding silent |
c.3231G>A; p.K1077K; 6:32203770-32203770 |
liver | carcinoma | Substitution - coding silent |
c.2336G>T; p.G779V; 6:32213237-32213237 |
liver | carcinoma | Substitution - Missense |
c.2336G>T; p.G779V; 6:32213237-32213237 |
liver | carcinoma | Substitution - Missense |
c.5912G>T; p.C1971F; 6:32195537-32195537 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2852G>T; p.G951V; 6:32210765-32210765 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1133C>G; p.S378C; 6:32220431-32220431 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.461G>A; p.C154Y; 6:32221316-32221316 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3265C>A; p.P1089T; 6:32202566-32202566 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1499T>C; p.L500P; 6:32219603-32219603 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.970C>G; p.P324A; 6:32220594-32220594 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.636T>A; p.H212Q; 6:32221141-32221141 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4131C>T; p.L1377L; 6:32201125-32201125 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5095G>A; p.E1699K; 6:32197030-32197030 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2380G>T; p.A794S; 6:32213193-32213193 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3651_3652delCT; p.R1219fs*15; 6:32202179-32202180 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1949T>A; p.L650H; 6:32215298-32215298 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2387G>C; p.G796A; 6:32213186-32213186 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1234C>T; p.L412F; 6:32220210-32220210 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2225G>C; p.G742A; 6:32213783-32213783 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.265G>T; p.G89W; 6:32222697-32222697 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4170C>A; p.S1390S; 6:32200976-32200976 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3998G>A; p.R1333H; 6:32201258-32201258 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.5870delG; p.G1957fs*39; 6:32195579-32195579 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.5687A>T; p.H1896L; 6:32195762-32195762 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.5782delG; p.A1928fs*2; 6:32195667-32195667 |
lung | carcinoma; small_cell_carcinoma | Deletion - Frameshift |
c.2303C>A; p.T768N; 6:32213705-32213705 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2438+2T>A; p.?; 6:32213133-32213133 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Unknown |
c.5998G>A; p.E2000K; 6:32195451-32195451 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.3884C>T; p.P1295L; 6:32201372-32201372 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.814G>T; p.D272Y; 6:32220864-32220864 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2751C>A; p.H917Q; 6:32210866-32210866 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1789_1790CC>AA; p.P597K; 6:32217016-32217017 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.701G>C; p.R234P; 6:32221076-32221076 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2668G>T; p.A890S; 6:32212486-32212486 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.3777C>A; p.C1259*; 6:32201479-32201479 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.80T>A; p.L27Q; 6:32223080-32223080 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3050C>T; p.P1017L; 6:32204205-32204205 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.5327G>A; p.R1776Q; 6:32196122-32196122 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.5694G>T; p.R1898R; 6:32195755-32195755 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.866G>C; p.G289A; 6:32220812-32220812 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2282G>T; p.G761V; 6:32213726-32213726 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.323G>T; p.G108V; 6:32222639-32222639 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.342C>T; p.C114C; 6:32222620-32222620 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5639_5640GG>TT; p.R1880>?; 6:32195809-32195810 |
lung | carcinoma; adenocarcinoma | Complex |
c.1533G>A; p.E511E; 6:32218086-32218086 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.5782G>T; p.A1928S; 6:32195667-32195667 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.3291C>A; p.H1097Q; 6:32202540-32202540 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.199C>A; p.P67T; 6:32222763-32222763 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1047C>G; p.G349G; 6:32220517-32220517 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.849C>A; p.H283Q; 6:32220829-32220829 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4412T>C; p.I1471T; 6:32199049-32199049 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.851A>G; p.Q284R; 6:32220827-32220827 |
lung; left_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1842C>A; p.L614L; 6:32216964-32216964 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3910_3911insC; p.S1304fs*31; 6:32201345-32201346 |
lung | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.4190C>T; p.P1397L; 6:32200956-32200956 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.5864C>T; p.A1955V; 6:32195585-32195585 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.5143G>C; p.D1715H; 6:32196982-32196982 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4183G>T; p.D1395Y; 6:32200963-32200963 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1687G>A; p.G563S; 6:32217204-32217204 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1196A>T; p.Q399L; 6:32220248-32220248 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.3337C>T; p.R1113C; 6:32202494-32202494 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4660C>T; p.L1554L; 6:32198517-32198517 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - coding silent |
c.5739C>T; p.G1913G; 6:32195710-32195710 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.5693G>C; p.R1898P; 6:32195756-32195756 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2915G>A; p.C972Y; 6:32204340-32204340 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1004C>G; p.S335C; 6:32220560-32220560 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.5003G>A; p.R1668H; 6:32197348-32197348 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1227C>A; p.T409T; 6:32220217-32220217 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2698C>T; p.L900F; 6:32210919-32210919 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1819C>A; p.L607I; 6:32216987-32216987 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.1131C>A; p.F377L; 6:32220433-32220433 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.5089C>G; p.R1697G; 6:32197036-32197036 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.3615G>T; p.L1205L; 6:32202216-32202216 |
lung; left_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4036C>A; p.R1346R; 6:32201220-32201220 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4273C>A; p.L1425M; 6:32200873-32200873 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1194C>A; p.S398R; 6:32220250-32220250 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2774G>T; p.S925I; 6:32210843-32210843 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.3880G>C; p.G1294R; 6:32201376-32201376 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3826G>C; p.E1276Q; 6:32201430-32201430 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.146G>A; p.G49E; 6:32223014-32223014 |
NS | malignant_melanoma | Substitution - Missense |
c.146G>A; p.G49E; 6:32223014-32223014 |
NS | malignant_melanoma | Substitution - Missense |
c.2577_2578insA; p.L860fs*76; 6:32212576-32212577 |
NS | malignant_melanoma | Insertion - Frameshift |
c.409G>A; p.A137T; 6:32222553-32222553 |
NS | malignant_melanoma | Substitution - Missense |
c.2584A>C; p.T862P; 6:32212570-32212570 |
NS | malignant_melanoma | Substitution - Missense |
c.4679C>T; p.A1560V; 6:32198498-32198498 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.977G>T; p.C326F; 6:32220587-32220587 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.2110G>A; p.G704R; 6:32214167-32214167 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.3325G>T; p.G1109C; 6:32202506-32202506 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.5541A>G; p.S1847S; 6:32195908-32195908 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1032G>C; p.V344V; 6:32220532-32220532 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.394C>T; p.R132C; 6:32222568-32222568 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2438+1G>A; p.?; 6:32213134-32213134 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.3523G>A; p.A1175T; 6:32202308-32202308 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.756G>A; p.M252I; 6:32221021-32221021 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2577C>A; p.C859*; 6:32212577-32212577 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.3517C>T; p.P1173S; 6:32202314-32202314 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1153C>G; p.R385G; 6:32220411-32220411 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.3729C>T; p.Y1243Y; 6:32202102-32202102 |
ovary | other; neoplasm | Substitution - coding silent |
c.2925A>T; p.Q975H; 6:32204330-32204330 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.5425C>A; p.Q1809K; 6:32196024-32196024 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2987C>A; p.P996Q; 6:32204268-32204268 |
pancreas | carcinoma | Substitution - Missense |
c.5382G>T; p.E1794D; 6:32196067-32196067 |
pancreas | carcinoma | Substitution - Missense |
c.5412G>A; p.A1804A; 6:32196037-32196037 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4399G>A; p.V1467I; 6:32199062-32199062 |
prostate | carcinoma | Substitution - Missense |
c.5201-1G>T; p.?; 6:32196422-32196422 |
prostate | carcinoma; adenocarcinoma | Unknown |
c.210C>T; p.N70N; 6:32222752-32222752 |
prostate | carcinoma | Substitution - coding silent |
c.2797C>T; p.P933S; 6:32210820-32210820 |
prostate | carcinoma | Substitution - Missense |
c.5531G>C; p.R1844P; 6:32195918-32195918 |
skin | malignant_melanoma | Substitution - Missense |
c.2053G>A; p.G685R; 6:32214224-32214224 |
skin | malignant_melanoma | Substitution - Missense |
c.917G>A; p.W306*; 6:32220761-32220761 |
skin | malignant_melanoma | Substitution - Nonsense |
c.2190G>A; p.M730I; 6:32213818-32213818 |
skin | malignant_melanoma | Substitution - Missense |
c.1056T>G; p.C352W; 6:32220508-32220508 |
skin | malignant_melanoma | Substitution - Missense |
c.1411C>A; p.R471S; 6:32219691-32219691 |
skin | malignant_melanoma | Substitution - Missense |
c.1294G>A; p.D432N; 6:32220150-32220150 |
skin | malignant_melanoma | Substitution - Missense |
c.3997C>T; p.R1333C; 6:32201259-32201259 |
skin; hand | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3669C>T; p.L1223L; 6:32202162-32202162 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3946G>A; p.A1316T; 6:32201310-32201310 |
skin | malignant_melanoma | Substitution - Missense |
c.4336C>T; p.P1446S; 6:32199125-32199125 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1070A>C; p.D357A; 6:32220494-32220494 |
skin | malignant_melanoma | Substitution - Missense |
c.3296G>A; p.G1099E; 6:32202535-32202535 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.3587G>A; p.G1196E; 6:32202244-32202244 |
skin | malignant_melanoma | Substitution - Missense |
c.3397G>A; p.G1133S; 6:32202434-32202434 |
skin | malignant_melanoma | Substitution - Missense |
c.4797A>G; p.E1599E; 6:32197554-32197554 |
skin | malignant_melanoma | Substitution - coding silent |
c.968C>T; p.P323L; 6:32220596-32220596 |
skin | malignant_melanoma | Substitution - Missense |
c.3781G>A; p.D1261N; 6:32201475-32201475 |
skin | malignant_melanoma | Substitution - Missense |
c.245C>T; p.A82V; 6:32222717-32222717 |
skin | malignant_melanoma | Substitution - Missense |
c.927G>A; p.W309*; 6:32220637-32220637 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.5270G>A; p.G1757E; 6:32196352-32196352 |
skin | malignant_melanoma | Substitution - Missense |
c.95C>T; p.P32L; 6:32223065-32223065 |
skin | malignant_melanoma | Substitution - Missense |
c.95C>T; p.P32L; 6:32223065-32223065 |
skin | malignant_melanoma | Substitution - Missense |
c.2300G>A; p.S767N; 6:32213708-32213708 |
skin | malignant_melanoma | Substitution - Missense |
c.4466G>A; p.R1489Q; 6:32198995-32198995 |
skin | malignant_melanoma | Substitution - Missense |
c.3415_3416CC>TT; p.P1139L; 6:32202415-32202416 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.555C>T; p.G185G; 6:32221222-32221222 |
skin; upper_leg | malignant_melanoma | Substitution - coding silent |
c.876G>A; p.Q292Q; 6:32220802-32220802 |
skin | malignant_melanoma | Substitution - coding silent |
c.811C>T; p.P271S; 6:32220867-32220867 |
skin | malignant_melanoma | Substitution - Missense |
c.4210G>A; p.D1404N; 6:32200936-32200936 |
skin | malignant_melanoma | Substitution - Missense |
c.3367C>T; p.P1123S; 6:32202464-32202464 |
skin | malignant_melanoma | Substitution - Missense |
c.3554G>A; p.G1185E; 6:32202277-32202277 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2998G>A; p.G1000R; 6:32204257-32204257 |
skin | malignant_melanoma | Substitution - Missense |
c.395G>A; p.R132H; 6:32222567-32222567 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2710G>A; p.G904R; 6:32210907-32210907 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2654C>T; p.S885F; 6:32212500-32212500 |
skin | malignant_melanoma | Substitution - Missense |
c.528C>T; p.P176P; 6:32221249-32221249 |
skin | malignant_melanoma | Substitution - coding silent |
c.3000G>A; p.G1000G; 6:32204255-32204255 |
skin | malignant_melanoma | Substitution - coding silent |
c.1656C>T; p.I552I; 6:32217235-32217235 |
skin | malignant_melanoma | Substitution - coding silent |
c.5968C>T; p.L1990F; 6:32195481-32195481 |
skin | malignant_melanoma | Substitution - Missense |
c.796C>T; p.P266S; 6:32220981-32220981 |
skin | malignant_melanoma | Substitution - Missense |
c.1622C>T; p.P541L; 6:32217997-32217997 |
skin | malignant_melanoma | Substitution - Missense |
c.5908C>T; p.P1970S; 6:32195541-32195541 |
skin | malignant_melanoma | Substitution - Missense |
c.737G>A; p.G246E; 6:32221040-32221040 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5989C>A; p.Q1997K; 6:32195460-32195460 |
skin | malignant_melanoma | Substitution - Missense |
c.87G>A; p.G29G; 6:32223073-32223073 |
skin | malignant_melanoma | Substitution - coding silent |
c.4795G>A; p.E1599K; 6:32197556-32197556 |
skin | malignant_melanoma | Substitution - Missense |
c.1024G>A; p.V342M; 6:32220540-32220540 |
skin | malignant_melanoma | Substitution - Missense |
c.678G>A; p.Q226Q; 6:32221099-32221099 |
skin | malignant_melanoma | Substitution - coding silent |
c.1632C>T; p.S544S; 6:32217259-32217259 |
skin | malignant_melanoma | Substitution - coding silent |
c.261C>T; p.P87P; 6:32222701-32222701 |
skin | malignant_melanoma | Substitution - coding silent |
c.1880C>T; p.P627L; 6:32215367-32215367 |
skin | malignant_melanoma | Substitution - Missense |
c.3442G>A; p.E1148K; 6:32202389-32202389 |
skin | malignant_melanoma | Substitution - Missense |
c.1159G>A; p.G387R; 6:32220405-32220405 |
skin | malignant_melanoma | Substitution - Missense |
c.5711G>A; p.G1904E; 6:32195738-32195738 |
skin | malignant_melanoma | Substitution - Missense |
c.4057G>A; p.G1353R; 6:32201199-32201199 |
skin | malignant_melanoma | Substitution - Missense |
c.2734C>T; p.P912S; 6:32210883-32210883 |
skin | malignant_melanoma | Substitution - Missense |
c.470G>A; p.R157Q; 6:32221307-32221307 |
skin | malignant_melanoma | Substitution - Missense |
c.71G>A; p.R24K; 6:32223858-32223858 |
skin | malignant_melanoma | Substitution - Missense |
c.3479C>T; p.S1160F; 6:32202352-32202352 |
skin | malignant_melanoma | Substitution - Missense |
c.1736C>A; p.P579Q; 6:32217155-32217155 |
skin | malignant_melanoma | Substitution - Missense |
c.1300G>A; p.D434N; 6:32220144-32220144 |
skin | malignant_melanoma | Substitution - Missense |
c.4315G>A; p.A1439T; 6:32200831-32200831 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4009G>A; p.D1337N; 6:32201247-32201247 |
skin | malignant_melanoma | Substitution - Missense |
c.4009G>A; p.D1337N; 6:32201247-32201247 |
skin; head_neck | malignant_melanoma; superficial_spreading | Substitution - Missense |
c.1906C>A; p.P636T; 6:32215341-32215341 |
skin | malignant_melanoma | Substitution - Missense |
c.2236C>T; p.P746S; 6:32213772-32213772 |
skin | malignant_melanoma | Substitution - Missense |
c.3362G>A; p.G1121E; 6:32202469-32202469 |
skin | malignant_melanoma | Substitution - Missense |
c.1280C>T; p.P427L; 6:32220164-32220164 |
skin | malignant_melanoma | Substitution - Missense |
c.3548G>A; p.G1183E; 6:32202283-32202283 |
skin | malignant_melanoma | Substitution - Missense |
c.374C>T; p.S125F; 6:32222588-32222588 |
skin | malignant_melanoma | Substitution - Missense |
c.1847C>T; p.P616L; 6:32216959-32216959 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.617C>T; p.P206L; 6:32221160-32221160 |
skin | malignant_melanoma | Substitution - Missense |
c.650C>T; p.S217F; 6:32221127-32221127 |
skin | malignant_melanoma | Substitution - Missense |
c.1131C>T; p.F377F; 6:32220433-32220433 |
skin | malignant_melanoma | Substitution - coding silent |
c.1640G>A; p.R547Q; 6:32217251-32217251 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3337C>T; p.R1113C; 6:32202494-32202494 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3169C>T; p.H1057Y; 6:32203832-32203832 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1473G>A; p.L491L; 6:32219629-32219629 |
skin | malignant_melanoma | Substitution - coding silent |
c.1473G>A; p.L491L; 6:32219629-32219629 |
skin | malignant_melanoma | Substitution - coding silent |
c.5897C>T; p.P1966L; 6:32195552-32195552 |
skin | malignant_melanoma | Substitution - Missense |
c.2024C>T; p.S675F; 6:32214253-32214253 |
skin | malignant_melanoma | Substitution - Missense |
c.4805C>T; p.S1602F; 6:32197546-32197546 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4581G>A; p.M1527I; 6:32198685-32198685 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.4617G>A; p.Q1539Q; 6:32198649-32198649 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2422C>T; p.P808S; 6:32213151-32213151 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.601G>A; p.D201N; 6:32221176-32221176 |
skin | malignant_melanoma | Substitution - Missense |
c.4901G>A; p.G1634E; 6:32197450-32197450 |
skin | malignant_melanoma | Substitution - Missense |
c.1491C>T; p.F497F; 6:32219611-32219611 |
skin | malignant_melanoma | Substitution - coding silent |
c.2725G>A; p.D909N; 6:32210892-32210892 |
skin | malignant_melanoma | Substitution - Missense |
c.3672C>T; p.F1224F; 6:32202159-32202159 |
skin; arm | malignant_melanoma | Substitution - coding silent |
c.4216G>A; p.G1406R; 6:32200930-32200930 |
skin; leg | malignant_melanoma; nodular | Substitution - Missense |
c.1765G>A; p.E589K; 6:32217041-32217041 |
skin | malignant_melanoma | Substitution - Missense |
c.4217G>A; p.G1406E; 6:32200929-32200929 |
skin; leg | malignant_melanoma; nodular | Substitution - Missense |
c.1100G>A; p.G367E; 6:32220464-32220464 |
skin | malignant_melanoma | Substitution - Missense |
c.45_47delGCT; p.L16delL; 6:32223882-32223884 |
skin | malignant_melanoma | Deletion - In frame |
c.45_47delGCT; p.L16delL; 6:32223882-32223884 |
skin | malignant_melanoma | Deletion - In frame |
c.4713G>A; p.Q1571Q; 6:32198464-32198464 |
skin | malignant_melanoma | Substitution - coding silent |
c.661C>T; p.L221F; 6:32221116-32221116 |
skin | malignant_melanoma | Substitution - Missense |
c.3269C>T; p.S1090F; 6:32202562-32202562 |
skin | malignant_melanoma | Substitution - Missense |
c.1562C>T; p.P521L; 6:32218057-32218057 |
skin | malignant_melanoma | Substitution - Missense |
c.3678C>T; p.D1226D; 6:32202153-32202153 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1388G>A; p.C463Y; 6:32219714-32219714 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3690C>T; p.H1230H; 6:32202141-32202141 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1503C>T; p.C501C; 6:32219599-32219599 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3024C>T; p.D1008D; 6:32204231-32204231 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5002C>T; p.R1668C; 6:32197349-32197349 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.5672G>C; p.G1891A; 6:32195777-32195777 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4498C>T; p.R1500C; 6:32198963-32198963 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4229G>A; p.R1410H; 6:32200917-32200917 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3729C>T; p.Y1243Y; 6:32202102-32202102 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.197A>G; p.D66G; 6:32222765-32222765 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.564C>T; p.G188G; 6:32221213-32221213 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.469C>T; p.R157W; 6:32221308-32221308 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.5074A>G; p.T1692A; 6:32197051-32197051 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.5980C>T; p.P1994S; 6:32195469-32195469 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1269C>T; p.G423G; 6:32220175-32220175 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3461delG; p.G1154fs*150; 6:32202370-32202370 |
stomach | carcinoma; diffuse_adenocarcinoma | Deletion - Frameshift |
c.5371delG; p.A1791fs*11; 6:32196078-32196078 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.4521C>T; p.D1507D; 6:32198940-32198940 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3018C>T; p.D1006D; 6:32204237-32204237 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4475G>A; p.R1492Q; 6:32198986-32198986 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3713G>A; p.C1238Y; 6:32202118-32202118 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.4036C>T; p.R1346W; 6:32201220-32201220 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4036C>T; p.R1346W; 6:32201220-32201220 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1038C>T; p.G346G; 6:32220526-32220526 |
stomach | adenocarcinoma | Substitution - coding silent |
c.4502G>A; p.R1501Q; 6:32198959-32198959 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4502G>A; p.R1501Q; 6:32198959-32198959 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.5562G>A; p.G1854G; 6:32195887-32195887 |
thyroid | other; neoplasm | Substitution - coding silent |
c.5210C>A; p.A1737E; 6:32196412-32196412 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5210C>A; p.A1737E; 6:32196412-32196412 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.36_38delGCT; p.L16delL; 6:32223891-32223893 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.36_38delGCT; p.L16delL; 6:32223891-32223893 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.36_38delGCT; p.L16delL; 6:32223891-32223893 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.36_38delGCT; p.L16delL; 6:32223891-32223893 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.36_38delGCT; p.L16delL; 6:32223891-32223893 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.36_47del12; p.L13_L16delLLLL; 6:32223882-32223893 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.36_47del12; p.L13_L16delLLLL; 6:32223882-32223893 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.36_47del12; p.L13_L16delLLLL; 6:32223882-32223893 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.36_47del12; p.L13_L16delLLLL; 6:32223882-32223893 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.813A>G; p.P271P; 6:32220865-32220865 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3805G>C; p.E1269Q; 6:32201451-32201451 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3805G>C; p.E1269Q; 6:32201451-32201451 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.36_37insGCT; p.L12_L13insA; 6:32223892-32223893 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - In frame |
c.36_37insGCT; p.L12_L13insA; 6:32223892-32223893 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - In frame |
c.36_37insGCT; p.L12_L13insA; 6:32223892-32223893 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - In frame |
c.36_37insGCT; p.L12_L13insA; 6:32223892-32223893 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - In frame |
c.36_37insGCTGCT; p.L12_L13insAA; 6:32223892-32223893 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - In frame |
c.36_37insGCTGCT; p.L12_L13insAA; 6:32223892-32223893 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - In frame |
c.36_37insGCTGCT; p.L12_L13insAA; 6:32223892-32223893 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - In frame |
c.4198C>T; p.R1400C; 6:32200948-32200948 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.48_49insGCTGCTGCT; p.L16_C17insAAA; 6:32223880-32223881 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - In frame |
c.3053C>A; p.T1018K; 6:32204202-32204202 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5649C>A; p.S1883S; 6:32195800-32195800 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.5792G>A; p.R1931Q; 6:32195657-32195657 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.3378G>A; p.L1126L; 6:32202453-32202453 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.3862G>A; p.D1288N; 6:32201394-32201394 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.4631G>A; p.G1544D; 6:32198546-32198546 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.5849C>T; p.P1950L; 6:32195600-32195600 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.3623C>A; p.P1208Q; 6:32202208-32202208 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.5250C>T; p.A1750A; 6:32196372-32196372 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.2112G>A; p.G704G; 6:32214165-32214165 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.4152C>T; p.V1384V; 6:32200994-32200994 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |