| Gene information | Literature | Expression | lncRNA | Mutation | Homolog |
Basic Information | |
|---|---|
Gene ID | 2185 |
Name | PTK2B |
Synonymous | protein tyrosine kinase 2 beta;PTK2B;protein tyrosine kinase 2 beta |
Definition | CAK-beta|FADK 2|PTK2B protein tyrosine kinase 2 beta|calcium-dependent tyrosine kinase|calcium-regulated non-receptor proline-rich tyrosine kinase|cell adhesion kinase beta|focal adhesion kinase 2|proline-rich tyrosine kinase 2|protein kinase B|protein-ty |
Position | 8p21.1 |
Gene Type | protein-coding |
COSMIC confirmed somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.2874G>T; p.R958R; 8:27458353-27458353 |
bone; femur | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.1684T>G; p.C562G; 8:27439071-27439071 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.2339G>A; p.R780Q; 8:27445918-27445918 |
bone; pelvis | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.1808C>T; p.T603M; 8:27439372-27439372 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.1817G>T; p.S606I; 8:27439381-27439381 |
breast | carcinoma | Substitution - Missense |
c.1291C>A; p.L431I; 8:27436298-27436298 |
breast | carcinoma | Substitution - Missense |
c.2871G>A; p.M957I; 8:27458350-27458350 |
breast | carcinoma | Substitution - Missense |
c.762C>T; p.L254L; 8:27430968-27430968 |
breast | carcinoma | Substitution - coding silent |
c.553C>T; p.R185W; 8:27430094-27430094 |
breast | carcinoma | Substitution - Missense |
c.603C>T; p.F201F; 8:27430144-27430144 |
breast | carcinoma | Substitution - coding silent |
c.493C>T; p.R165C; 8:27422325-27422325 |
breast | carcinoma | Substitution - Missense |
c.1681G>C; p.E561Q; 8:27439068-27439068 |
breast | carcinoma | Substitution - Missense |
c.524C>T; p.A175V; 8:27422356-27422356 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.2562G>A; p.G854G; 8:27453127-27453127 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.2155C>T; p.R719*; 8:27444212-27444212 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Nonsense |
c.2475G>A; p.E825E; 8:27450883-27450883 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.2590G>A; p.A864T; 8:27453155-27453155 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1341C>T; p.H447H; 8:27436348-27436348 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1265G>A; p.R422H; 8:27436272-27436272 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.297C>T; p.S99S; 8:27419987-27419987 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - coding silent |
c.1822G>A; p.V608I; 8:27439386-27439386 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1341C>G; p.H447Q; 8:27436348-27436348 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.936G>A; p.P312P; 8:27432310-27432310 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1291C>A; p.L431I; 8:27436298-27436298 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.254G>A; p.R85Q; 8:27419944-27419944 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.714C>T; p.Y238Y; 8:27430920-27430920 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.297C>A; p.S99S; 8:27419987-27419987 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.558C>T; p.F186F; 8:27430099-27430099 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2752C>T; p.R918W; 8:27454549-27454549 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1693C>A; p.L565M; 8:27439080-27439080 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1927C>T; p.R643W; 8:27440329-27440329 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1203C>T; p.I401I; 8:27435753-27435753 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1905C>T; p.I635I; 8:27440307-27440307 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1674C>A; p.A558A; 8:27439061-27439061 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1080C>A; p.G360G; 8:27433527-27433527 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.202C>T; p.R68W; 8:27397786-27397786 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.235C>T; p.R79W; 8:27419925-27419925 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2713G>A; p.G905S; 8:27454271-27454271 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.820A>G; p.N274D; 8:27431407-27431407 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1832T>C; p.F611S; 8:27439396-27439396 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.523G>A; p.A175T; 8:27422355-27422355 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2413C>T; p.R805W; 8:27450821-27450821 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2099G>A; p.R700Q; 8:27442934-27442934 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2822G>A; p.G941D; 8:27458301-27458301 |
eye; uveal_tract | malignant_melanoma | Substitution - Missense |
c.2151C>G; p.P717P; 8:27444208-27444208 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.2151C>G; p.P717P; 8:27444208-27444208 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.330G>A; p.T110T; 8:27420020-27420020 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.45G>A; p.T15T; 8:27397629-27397629 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.1341C>T; p.H447H; 8:27436348-27436348 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.1696G>A; p.G566R; 8:27439083-27439083 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1341C>T; p.H447H; 8:27436348-27436348 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.27T>C; p.S9S; 8:27397611-27397611 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.2628T>C; p.T876T; 8:27454186-27454186 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.2770G>T; p.V924L; 8:27454567-27454567 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.860G>C; p.R287P; 8:27431447-27431447 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1614C>A; p.A538A; 8:27437851-27437851 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.2525C>T; p.T842M; 8:27451486-27451486 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1817G>A; p.S606N; 8:27439381-27439381 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2420T>C; p.I807T; 8:27450828-27450828 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2763C>T; p.I921I; 8:27454560-27454560 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2177C>T; p.P726L; 8:27444234-27444234 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2753G>A; p.R918Q; 8:27454550-27454550 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.719C>T; p.S240L; 8:27430925-27430925 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1955C>T; p.P652L; 8:27440357-27440357 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1314G>T; p.E438D; 8:27436321-27436321 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.296C>T; p.S99F; 8:27419986-27419986 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2151C>G; p.P717P; 8:27444208-27444208 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1573A>G; p.T525A; 8:27437810-27437810 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1836C>T; p.A612A; 8:27440238-27440238 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.245C>T; p.P82L; 8:27419935-27419935 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2590G>A; p.A864T; 8:27453155-27453155 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1303delT; p.F436fs*19; 8:27436310-27436310 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1729G>A; p.E577K; 8:27439116-27439116 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.765C>T; p.A255A; 8:27430971-27430971 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2556C>A; p.F852L; 8:27453121-27453121 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2704delC; p.E904fs*7; 8:27454262-27454262 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.330G>A; p.T110T; 8:27420020-27420020 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.203G>A; p.R68Q; 8:27397787-27397787 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2043C>T; p.D681D; 8:27442878-27442878 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1996C>T; p.P666S; 8:27440398-27440398 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.367G>A; p.V123M; 8:27420057-27420057 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.797G>A; p.R266H; 8:27431003-27431003 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.804A>T; p.E268D; 8:27431010-27431010 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2665C>T; p.R889W; 8:27454223-27454223 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.948C>T; p.G316G; 8:27432322-27432322 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1681G>T; p.E561*; 8:27439068-27439068 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2293A>G; p.T765A; 8:27445872-27445872 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.841A>G; p.I281V; 8:27431428-27431428 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1980C>T; p.R660R; 8:27440382-27440382 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1471G>A; p.G491S; 8:27437440-27437440 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1906delG; p.V637fs*22; 8:27440308-27440308 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1756C>T; p.R586C; 8:27439320-27439320 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2474A>G; p.E825G; 8:27450882-27450882 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.529C>T; p.Q177*; 8:27422361-27422361 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2431C>T; p.Q811*; 8:27450839-27450839 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1189A>T; p.I397L; 8:27434556-27434556 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.67G>T; p.A23S; 8:27397651-27397651 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1991A>G; p.Y664C; 8:27440393-27440393 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1909delG; p.V637fs*22; 8:27440311-27440311 |
large_intestine; colon | carcinoma | Deletion - Frameshift |
c.814G>T; p.G272*; 8:27431401-27431401 |
liver | carcinoma | Substitution - Nonsense |
c.1325G>C; p.G442A; 8:27436332-27436332 |
liver | carcinoma | Substitution - Missense |
c.1325G>C; p.G442A; 8:27436332-27436332 |
liver | carcinoma | Substitution - Missense |
c.927G>T; p.R309S; 8:27432301-27432301 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.2051A>G; p.Q684R; 8:27442886-27442886 |
liver | carcinoma | Substitution - Missense |
c.2051A>G; p.Q684R; 8:27442886-27442886 |
liver | carcinoma | Substitution - Missense |
c.2006G>A; p.R669Q; 8:27440408-27440408 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2173C>T; p.P725S; 8:27444230-27444230 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2995G>T; p.V999F; 8:27458474-27458474 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1640A>C; p.H547P; 8:27437877-27437877 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2850G>T; p.L950L; 8:27458329-27458329 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.656A>T; p.Q219L; 8:27430405-27430405 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.338A>T; p.E113V; 8:27420028-27420028 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.921C>T; p.S307S; 8:27432295-27432295 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2476G>A; p.E826K; 8:27450884-27450884 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2246C>T; p.T749M; 8:27445825-27445825 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1596G>C; p.Q532H; 8:27437833-27437833 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.651G>A; p.Q217Q; 8:27430400-27430400 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2794C>T; p.P932S; 8:27454591-27454591 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1420G>C; p.E474Q; 8:27437200-27437200 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2439G>T; p.K813N; 8:27450847-27450847 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3009G>T; p.L1003L; 8:27458488-27458488 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.273G>T; p.G91G; 8:27419963-27419963 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.376G>A; p.E126K; 8:27420066-27420066 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2804C>T; p.S935L; 8:27454601-27454601 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.844_845GG>TT; p.G282F; 8:27431431-27431432 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.298G>T; p.D100Y; 8:27419988-27419988 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2770G>T; p.V924L; 8:27454567-27454567 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.16G>A; p.E6K; 8:27397600-27397600 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1828A>T; p.M610L; 8:27439392-27439392 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2640G>T; p.V880V; 8:27454198-27454198 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1296G>A; p.G432G; 8:27436303-27436303 |
NS | malignant_melanoma | Substitution - coding silent |
c.1296G>A; p.G432G; 8:27436303-27436303 |
NS | malignant_melanoma | Substitution - coding silent |
c.507G>A; p.K169K; 8:27422339-27422339 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2443A>G; p.M815V; 8:27450851-27450851 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.2099G>A; p.R700Q; 8:27442934-27442934 |
oesophagus | carcinoma | Substitution - Missense |
c.262G>C; p.E88Q; 8:27419952-27419952 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.18G>T; p.E6D; 8:27397602-27397602 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2012G>A; p.R671H; 8:27440414-27440414 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2310G>T; p.R770R; 8:27445889-27445889 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.1312G>C; p.E438Q; 8:27436319-27436319 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1756C>T; p.R586C; 8:27439320-27439320 |
ovary | other; neoplasm | Substitution - Missense |
c.2525C>T; p.T842M; 8:27451486-27451486 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1720A>T; p.I574F; 8:27439107-27439107 |
ovary | other; neoplasm | Substitution - Missense |
c.1608C>T; p.A536A; 8:27437845-27437845 |
skin | malignant_melanoma | Substitution - coding silent |
c.2753G>A; p.R918Q; 8:27454550-27454550 |
skin; chest | malignant_melanoma | Substitution - Missense |
c.990C>T; p.A330A; 8:27433437-27433437 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2734-10_2734-9insT; p.?; 8:27454521-27454522 |
skin | malignant_melanoma | Unknown |
c.1241G>A; p.G414E; 8:27435791-27435791 |
skin | malignant_melanoma | Substitution - Missense |
c.552-4C>T; p.?; 8:27430089-27430089 |
skin; back | malignant_melanoma | Unknown |
c.2197C>T; p.P733S; 8:27444254-27444254 |
skin | malignant_melanoma | Substitution - Missense |
c.2505G>A; p.M835I; 8:27451060-27451060 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.15C>T; p.S5S; 8:27397599-27397599 |
skin | malignant_melanoma | Substitution - coding silent |
c.2374G>A; p.E792K; 8:27450782-27450782 |
skin; shoulder | malignant_melanoma | Substitution - Missense |
c.116G>A; p.R39H; 8:27397700-27397700 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1712C>T; p.S571F; 8:27439099-27439099 |
skin | malignant_melanoma | Substitution - Missense |
c.1712C>T; p.S571F; 8:27439099-27439099 |
skin | malignant_melanoma | Substitution - Missense |
c.2131C>T; p.Q711*; 8:27442966-27442966 |
skin | malignant_melanoma | Substitution - Nonsense |
c.2004C>T; p.D668D; 8:27440406-27440406 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.753C>T; p.F251F; 8:27430959-27430959 |
skin | malignant_melanoma | Substitution - coding silent |
c.400C>T; p.R134C; 8:27420673-27420673 |
skin | malignant_melanoma | Substitution - Missense |
c.1516C>T; p.P506S; 8:27437485-27437485 |
skin | malignant_melanoma | Substitution - Missense |
c.1516C>T; p.P506S; 8:27437485-27437485 |
skin | malignant_melanoma | Substitution - Missense |
c.1708C>T; p.L570F; 8:27439095-27439095 |
skin | malignant_melanoma | Substitution - Missense |
c.477G>A; p.R159R; 8:27422309-27422309 |
skin | malignant_melanoma | Substitution - coding silent |
c.2749C>T; p.L917L; 8:27454546-27454546 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.921C>T; p.S307S; 8:27432295-27432295 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2211C>T; p.F737F; 8:27444268-27444268 |
skin | malignant_melanoma | Substitution - coding silent |
c.1011C>T; p.S337S; 8:27433458-27433458 |
skin | malignant_melanoma | Substitution - coding silent |
c.877G>A; p.D293N; 8:27431464-27431464 |
skin; scalp | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1967C>T; p.T656I; 8:27440369-27440369 |
skin | malignant_melanoma | Substitution - Missense |
c.420C>T; p.F140F; 8:27420693-27420693 |
skin | malignant_melanoma | Substitution - coding silent |
c.681C>T; p.F227F; 8:27430887-27430887 |
skin | malignant_melanoma | Substitution - coding silent |
c.1480G>A; p.E494K; 8:27437449-27437449 |
skin; upper_leg | malignant_melanoma | Substitution - Missense |
c.1762C>T; p.P588S; 8:27439326-27439326 |
skin | malignant_melanoma | Substitution - Missense |
c.2606C>T; p.P869L; 8:27454164-27454164 |
skin | malignant_melanoma | Substitution - Missense |
c.671C>T; p.P224L; 8:27430877-27430877 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2817C>T; p.I939I; 8:27458296-27458296 |
skin | malignant_melanoma | Substitution - coding silent |
c.2598C>T; p.S866S; 8:27454156-27454156 |
skin | malignant_melanoma | Substitution - coding silent |
c.2218C>T; p.P740S; 8:27445797-27445797 |
skin | malignant_melanoma | Substitution - Missense |
c.2302C>T; p.L768F; 8:27445881-27445881 |
skin; extremity | malignant_melanoma | Substitution - Missense |
c.2403G>A; p.K801K; 8:27450811-27450811 |
skin | malignant_melanoma | Substitution - coding silent |
c.2812G>A; p.E938K; 8:27454609-27454609 |
skin; arm | malignant_melanoma | Substitution - Missense |
c.1185C>T; p.C395C; 8:27434552-27434552 |
skin | malignant_melanoma | Substitution - coding silent |
c.1185C>T; p.C395C; 8:27434552-27434552 |
skin | malignant_melanoma | Substitution - coding silent |
c.120C>T; p.I40I; 8:27397704-27397704 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.604G>A; p.E202K; 8:27430145-27430145 |
skin | malignant_melanoma | Substitution - Missense |
c.2708C>T; p.P903L; 8:27454266-27454266 |
skin | malignant_melanoma | Substitution - Missense |
c.74C>T; p.P25L; 8:27397658-27397658 |
skin; neck | malignant_melanoma | Substitution - Missense |
c.2528C>T; p.P843L; 8:27451489-27451489 |
skin | malignant_melanoma | Substitution - Missense |
c.2886G>A; p.Q962Q; 8:27458365-27458365 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2473G>A; p.E825K; 8:27450881-27450881 |
skin | malignant_melanoma | Substitution - Missense |
c.818G>A; p.W273*; 8:27431405-27431405 |
skin; scalp | malignant_melanoma | Substitution - Nonsense |
c.2536G>T; p.E846*; 8:27451497-27451497 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.2130C>T; p.F710F; 8:27442965-27442965 |
skin | malignant_melanoma | Substitution - coding silent |
c.683G>A; p.R228Q; 8:27430889-27430889 |
skin | malignant_melanoma | Substitution - Missense |
c.1713C>T; p.S571S; 8:27439100-27439100 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1713C>T; p.S571S; 8:27439100-27439100 |
skin | malignant_melanoma | Substitution - coding silent |
c.2669C>T; p.A890V; 8:27454227-27454227 |
skin | malignant_melanoma | Substitution - Missense |
c.154C>T; p.P52S; 8:27397738-27397738 |
skin | malignant_melanoma | Substitution - Missense |
c.2484C>T; p.S828S; 8:27450892-27450892 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1010C>T; p.S337F; 8:27433457-27433457 |
skin | malignant_melanoma | Substitution - Missense |
c.888C>T; p.P296P; 8:27432262-27432262 |
skin | malignant_melanoma | Substitution - coding silent |
c.2491C>T; p.P831S; 8:27451046-27451046 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1285C>T; p.R429C; 8:27436292-27436292 |
skin | malignant_melanoma | Substitution - Missense |
c.1285C>T; p.R429C; 8:27436292-27436292 |
skin | malignant_melanoma | Substitution - Missense |
c.1045G>A; p.D349N; 8:27433492-27433492 |
skin | malignant_melanoma | Substitution - Missense |
c.1055G>C; p.C352S; 8:27433502-27433502 |
soft_tissue; striated_muscle | rhabdoid_tumour | Substitution - Missense |
c.13T>A; p.S5T; 8:27397597-27397597 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2178G>A; p.P726P; 8:27444235-27444235 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.400C>T; p.R134C; 8:27420673-27420673 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1276G>A; p.V426I; 8:27436283-27436283 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2704delC; p.E904fs*7; 8:27454262-27454262 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.720G>A; p.S240S; 8:27430926-27430926 |
stomach | adenocarcinoma | Substitution - coding silent |
c.2019C>T; p.T673T; 8:27440421-27440421 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.73delC; p.M26fs*6; 8:27397657-27397657 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.1834G>A; p.A612T; 8:27439398-27439398 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.409C>A; p.P137T; 8:27420682-27420682 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2338C>T; p.R780W; 8:27445917-27445917 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1264C>T; p.R422C; 8:27436271-27436271 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2011C>T; p.R671C; 8:27440413-27440413 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.582A>G; p.A194A; 8:27430123-27430123 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1700A>G; p.D567G; 8:27439087-27439087 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.1700A>G; p.D567G; 8:27439087-27439087 |
stomach | adenocarcinoma | Substitution - Missense |
c.2139C>T; p.P713P; 8:27442974-27442974 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.739G>A; p.V247I; 8:27430945-27430945 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1994A>G; p.D665G; 8:27440396-27440396 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.493C>T; p.R165C; 8:27422325-27422325 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2413C>T; p.R805W; 8:27450821-27450821 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1991A>G; p.Y664C; 8:27440393-27440393 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1108G>A; p.G370S; 8:27434095-27434095 |
thyroid | carcinoma | Substitution - Missense |
c.1472G>A; p.G491D; 8:27437441-27437441 |
thyroid | carcinoma | Substitution - Missense |
c.2058G>A; p.E686E; 8:27442893-27442893 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2011C>T; p.R671C; 8:27440413-27440413 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2150C>T; p.P717L; 8:27444207-27444207 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1915G>C; p.E639Q; 8:27440317-27440317 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.376G>A; p.E126K; 8:27420066-27420066 |
urinary_tract; bladder | carcinoma | Substitution - Missense |