Entrez Gene

Basic Information
Gene ID	25913
Name	POT1
Synonymous	protection of telomeres 1;POT1;protection of telomeres 1
Definition	POT1-like telomere end-binding protein\|protection of telomeres 1 homolog\|protection of telomeres protein 1
Position	7q31.33
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.1417G>T; p.V473L; 7:124835367-124835367	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.16G>A; p.A6T; 7:124892374-124892374	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1608A>G; p.V536V; 7:124827292-124827292	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1505G>T; p.G502V; 7:124835279-124835279	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.520G>T; p.V174L; 7:124863376-124863376	ovary	other; neoplasm	Substitution - Missense
c.736A>T; p.T246S; 7:124853105-124853105	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1436G>A; p.G479D; 7:124835348-124835348	pancreas	carcinoma	Substitution - Missense
c.1436G>A; p.G479D; 7:124835348-124835348	pancreas	carcinoma	Substitution - Missense
c.546+2T>A; p.?; 7:124863348-124863348	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.786G>A; p.E262E; 7:124853055-124853055	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.208C>T; p.P70S; 7:124870958-124870958	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1424C>T; p.P475L; 7:124835360-124835360	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.283G>T; p.G95C; 7:124863613-124863613	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.23A>C; p.N8T; 7:124892367-124892367	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.582G>A; p.W194*; 7:124859077-124859077	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Nonsense
c.546G>C; p.K182N; 7:124863350-124863350	parathyroid	adenoma	Substitution - Missense
c.410G>T; p.R137L; 7:124863486-124863486	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1228G>C; p.D410H; 7:124841114-124841114	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1185C>T; p.G395G; 7:124841157-124841157	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.442T>C; p.W148R; 7:124863454-124863454	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.442T>C; p.W148R; 7:124863454-124863454	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.803G>A; p.G268D; 7:124853038-124853038	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.1130C>T; p.S377F; 7:124842840-124842840	liver	carcinoma	Substitution - Missense
c.1130C>T; p.S377F; 7:124842840-124842840	liver	carcinoma	Substitution - Missense
c.1130C>T; p.S377F; 7:124842840-124842840	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.803G>A; p.G268D; 7:124853038-124853038	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.832T>C; p.L278L; 7:124853009-124853009	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1401G>A; p.S467S; 7:124835383-124835383	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.198T>G; p.Y66*; 7:124870968-124870968	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Nonsense
c.198T>G; p.Y66*; 7:124870968-124870968	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Nonsense
c.1562A>G; p.K521R; 7:124829286-124829286	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1714G>A; p.E572K; 7:124825330-124825330	breast	carcinoma	Substitution - Missense
c.1069C>T; p.P357S; 7:124842901-124842901	thyroid	other; neoplasm	Substitution - Missense
c.198T>G; p.Y66*; 7:124870968-124870968	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Nonsense
c.112A>G; p.S38G; 7:124892278-124892278	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.33_34delTA; p.L14fs*4; 7:124892356-124892357	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.802G>T; p.G268C; 7:124853039-124853039	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.33_34delTA; p.L14fs*4; 7:124892356-124892357	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.227G>T; p.G76V; 7:124870939-124870939	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.375C>T; p.F125F; 7:124863521-124863521	skin	malignant_melanoma	Substitution - coding silent
c.375C>T; p.F125F; 7:124863521-124863521	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.653T>G; p.I218R; 7:124859006-124859006	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.1302A>G; p.V434V; 7:124841040-124841040	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1773T>G; p.C591W; 7:124825271-124825271	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1473A>T; p.P491P; 7:124835311-124835311	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1568C>T; p.S523L; 7:124829280-124829280	skin	malignant_melanoma	Substitution - Missense
c.1568C>T; p.S523L; 7:124829280-124829280	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.219T>A; p.Y73*; 7:124870947-124870947	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Nonsense
c.1156C>A; p.H386N; 7:124842814-124842814	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.106T>C; p.Y36H; 7:124892284-124892284	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1414A>G; p.S472G; 7:124835370-124835370	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.64A>G; p.I22V; 7:124892326-124892326	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.113G>A; p.S38N; 7:124892277-124892277	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1760T>C; p.M587T; 7:124825284-124825284	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.814G>A; p.G272S; 7:124853027-124853027	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1600G>T; p.G534C; 7:124827300-124827300	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1393A>T; p.K465*; 7:124835391-124835391	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.733C>T; p.H245Y; 7:124853108-124853108	skin	malignant_melanoma	Substitution - Missense
c.410G>A; p.R137H; 7:124863486-124863486	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.644A>G; p.N215S; 7:124859015-124859015	liver	carcinoma	Substitution - Missense
c.644A>G; p.N215S; 7:124859015-124859015	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.547G>T; p.V183L; 7:124859112-124859112	central_nervous_system; brain	glioma	Substitution - Missense
c.1300G>T; p.V434L; 7:124841042-124841042	pancreas	carcinoma	Substitution - Missense
c.547G>T; p.V183L; 7:124859112-124859112	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.630C>T; p.I210I; 7:124859029-124859029	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.527G>T; p.G176V; 7:124863369-124863369	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.527G>T; p.G176V; 7:124863369-124863369	skin	malignant_melanoma	Substitution - Missense
c.124+3A>T; p.?; 7:124892263-124892263	lung	carcinoma; small_cell_carcinoma	Unknown
c.936C>T; p.D312D; 7:124851885-124851885	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1316T>G; p.V439G; 7:124841026-124841026	skin	malignant_melanoma	Substitution - Missense
c.9+2T>C; p.?; 7:124897163-124897163	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Unknown
c.299G>A; p.G100D; 7:124863597-124863597	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.233T>C; p.I78T; 7:124870933-124870933	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.487G>T; p.D163Y; 7:124863409-124863409	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.668A>G; p.Y223C; 7:124858991-124858991	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.668A>G; p.Y223C; 7:124858991-124858991	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.281A>G; p.Q94R; 7:124863615-124863615	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.668A>G; p.Y223C; 7:124858991-124858991	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.281A>G; p.Q94R; 7:124863615-124863615	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.71A>C; p.N24T; 7:124892319-124892319	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1242A>T; p.Q414H; 7:124841100-124841100	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.725A>G; p.Y242C; 7:124853116-124853116	salivary_gland; tongue	carcinoma; adenoid_cystic_carcinoma	Substitution - Missense
c.1213G>A; p.A405T; 7:124841129-124841129	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1007-1G>T; p.?; 7:124842964-124842964	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.119G>A; p.G40E; 7:124892271-124892271	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.41T>C; p.L14P; 7:124892349-124892349	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.284G>T; p.G95V; 7:124863612-124863612	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.557G>A; p.G186D; 7:124859102-124859102	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1789A>C; p.I597L; 7:124825255-124825255	skin; mucosal	malignant_melanoma	Substitution - Missense
c.1658G>A; p.G553E; 7:124827242-124827242	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.125A>T; p.D42V; 7:124871041-124871041	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.1030G>A; p.E344K; 7:124842940-124842940	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.131G>A; p.C44Y; 7:124871035-124871035	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.525C>T; p.D175D; 7:124863371-124863371	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1551C>T; p.S517S; 7:124829297-124829297	skin	malignant_melanoma	Substitution - coding silent
c.749C>A; p.S250*; 7:124853092-124853092	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Nonsense
c.813C>T; p.Y271Y; 7:124853028-124853028	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1183G>T; p.G395C; 7:124841159-124841159	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.351C>T; p.R117R; 7:124863545-124863545	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.517G>A; p.E173K; 7:124863379-124863379	urinary_tract; bladder	carcinoma	Substitution - Missense
c.263T>C; p.V88A; 7:124863633-124863633	skin	malignant_melanoma	Substitution - Missense
c.1087C>T; p.R363*; 7:124842883-124842883	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1087C>T; p.R363*; 7:124842883-124842883	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.521T>C; p.V174A; 7:124863375-124863375	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.533C>T; p.S178L; 7:124863363-124863363	urinary_tract; bladder	carcinoma	Substitution - Missense
c.797A>T; p.H266L; 7:124853044-124853044	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1346A>G; p.N449S; 7:124840996-124840996	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1703_1715del13; p.I568fs*3; 7:124825329-124825341	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.1701G>A; p.Q567Q; 7:124825343-124825343	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1199T>G; p.I400S; 7:124841143-124841143	liver	carcinoma	Substitution - Missense
c.1064A>T; p.K355I; 7:124842906-124842906	urinary_tract; bladder	carcinoma	Substitution - Missense
c.314C>T; p.T105M; 7:124863582-124863582	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.117A>T; p.K39N; 7:124892273-124892273	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.1865A>G; p.Y622C; 7:124824002-124824002	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1762G>A; p.D588N; 7:124825282-124825282	haematopoietic_and_lymphoid_tissue; central_nervous_system	lymphoid_neoplasm; primary_central_nervous_system_lymphoma	Substitution - Missense
c.301T>A; p.F101I; 7:124863595-124863595	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.30A>G; p.I10M; 7:124892360-124892360	liver	carcinoma	Substitution - Missense
c.1258G>A; p.D420N; 7:124841084-124841084	breast	carcinoma	Substitution - Missense
c.30A>G; p.I10M; 7:124892360-124892360	liver	carcinoma	Substitution - Missense
c.511A>G; p.K171E; 7:124863385-124863385	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.684T>C; p.H228H; 7:124858975-124858975	bone; femur	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.460T>C; p.C154R; 7:124863436-124863436	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1029G>T; p.L343F; 7:124842941-124842941	skin; ear	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.306A>T; p.A102A; 7:124863590-124863590	skin	malignant_melanoma	Substitution - coding silent
c.1115G>A; p.R372K; 7:124842855-124842855	bone; femur	chondrosarcoma	Substitution - Missense
c.1A>G; p.M1V; 7:124897173-124897173	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.106T>A; p.Y36N; 7:124892284-124892284	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.106T>A; p.Y36N; 7:124892284-124892284	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.106T>A; p.Y36N; 7:124892284-124892284	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1697T>G; p.F566C; 7:124825347-124825347	skin; axilla	malignant_melanoma	Substitution - Missense
c.548T>G; p.V183G; 7:124859111-124859111	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.548T>G; p.V183G; 7:124859111-124859111	thyroid	other; neoplasm	Substitution - Missense
c.548T>G; p.V183G; 7:124859111-124859111	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.548T>G; p.V183G; 7:124859111-124859111	thyroid	other; neoplasm	Substitution - Missense
c.548T>G; p.V183G; 7:124859111-124859111	haematopoietic_and_lymphoid_tissue; central_nervous_system	lymphoid_neoplasm; primary_central_nervous_system_lymphoma	Substitution - Missense
c.548T>G; p.V183G; 7:124859111-124859111	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.548T>G; p.V183G; 7:124859111-124859111	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.548T>G; p.V183G; 7:124859111-124859111	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.973G>A; p.E325K; 7:124846975-124846975	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.548T>G; p.V183G; 7:124859111-124859111	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.821G>A; p.G274E; 7:124853020-124853020	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.990A>G; p.Q330Q; 7:124846958-124846958	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.427C>T; p.H143Y; 7:124863469-124863469	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.115A>G; p.K39E; 7:124892275-124892275	skin	malignant_melanoma	Substitution - Missense
c.115A>G; p.K39E; 7:124892275-124892275	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.268A>G; p.K90E; 7:124863628-124863628	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.409C>T; p.R137C; 7:124863487-124863487	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1863C>A; p.C621*; 7:124824004-124824004	pancreas	carcinoma	Substitution - Nonsense
c.1863C>A; p.C621*; 7:124824004-124824004	pancreas	carcinoma	Substitution - Nonsense
c.1882A>T; p.T628S; 7:124823985-124823985	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1559A>G; p.D520G; 7:124829289-124829289	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1792+9G>T; p.?; 7:124825243-124825243	pancreas	carcinoma	Unknown
c.14C>T; p.P5L; 7:124892376-124892376	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.34_35insTA; p.T12fs*4; 7:124892355-124892356	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Insertion - Frameshift
c.356C>T; p.S119L; 7:124863540-124863540	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1675C>T; p.L559F; 7:124827225-124827225	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.670G>C; p.D224H; 7:124858989-124858989	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.983G>T; p.R328I; 7:124846965-124846965	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.35C>T; p.T12I; 7:124892355-124892355	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.35C>T; p.T12I; 7:124892355-124892355	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.308C>T; p.S103F; 7:124863588-124863588	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.71A>G; p.N24S; 7:124892319-124892319	NS	NS	Substitution - Missense
c.146T>C; p.I49T; 7:124871020-124871020	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.871G>A; p.D291N; 7:124851950-124851950	prostate	adenoma	Substitution - Missense
c.1310A>C; p.H437P; 7:124841032-124841032	skin	malignant_melanoma	Substitution - Missense
c.5C>A; p.S2Y; 7:124897169-124897169	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.269A>T; p.K90I; 7:124863627-124863627	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1A>T; p.M1L; 7:124897173-124897173	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1A>T; p.M1L; 7:124897173-124897173	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1750G>T; p.D584Y; 7:124825294-124825294	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.188G>C; p.S63T; 7:124870978-124870978	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.871G>T; p.D291Y; 7:124851950-124851950	prostate	carcinoma	Substitution - Missense
c.190G>A; p.G64R; 7:124870976-124870976	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1609C>T; p.P537S; 7:124827291-124827291	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.101C>T; p.P34L; 7:124892289-124892289	skin	malignant_melanoma	Substitution - Missense
c.380C>T; p.T127I; 7:124863516-124863516	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.255G>T; p.K85N; 7:124870911-124870911	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.924A>G; p.Q308Q; 7:124851897-124851897	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.924A>G; p.Q308Q; 7:124851897-124851897	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1445A>G; p.D482G; 7:124835339-124835339	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1445A>G; p.D482G; 7:124835339-124835339	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.640C>T; p.Q214*; 7:124859019-124859019	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.230A>G; p.D77G; 7:124870936-124870936	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.815G>T; p.G272V; 7:124853026-124853026	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.815G>T; p.G272V; 7:124853026-124853026	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1162C>A; p.L388M; 7:124842808-124842808	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.855G>A; p.V285V; 7:124852986-124852986	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.855G>A; p.V285V; 7:124852986-124852986	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.114C>G; p.S38R; 7:124892276-124892276	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1430G>C; p.R477T; 7:124835354-124835354	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.881C>A; p.S294Y; 7:124851940-124851940	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1376C>T; p.T459I; 7:124835408-124835408	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.413T>C; p.V138A; 7:124863483-124863483	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1294C>T; p.R432*; 7:124841048-124841048	soft_tissue; blood_vessel	angiosarcoma	Substitution - Nonsense
c.1439A>G; p.H480R; 7:124835345-124835345	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.855G>T; p.V285V; 7:124852986-124852986	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent

COSMIC somatic mutation [Top]