Entrez Gene

Basic Information
Gene ID	3575
Name	IL7R
Synonymous	CD127\|CDW127\|IL-7R-alpha\|IL7RA\|ILRA;interleukin 7 receptor;IL7R;interleukin 7 receptor
Definition	CD127 antigen\|IL-7 receptor subunit alpha\|IL-7R subunit alpha\|IL-7RA\|interleukin 7 receptor alpha chain\|interleukin 7 receptor isoform H5-6\|interleukin-7 receptor subunit alpha
Position	5p13
Gene Type	protein-coding
Gene Mutation:	PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation

PCGP germline mutation [Top]
	There is no record for IL7R

Variant (Variant; Chr; Position)	Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin)	Disease (CancerType; ValidationStatus; SequencingType)
PCGP somatic mutation [Top]
IL7R_V253>GFSV; chr5; 35874602	IPROTEINI-; -/GGTTCTCTG; SOMATIC	T-ALL; VALID; WGS
IL7R_GCinsL243; chr5; 35874571	IPROTEINI-; -/GGTTGC; SOMATIC	T-ALL; VALID; WGS
IL7R_IL241-242TC; chr5; 35874566	INDEL; MISSENSE; TCTTAC; TCTTAC/CCTGCT; SOMATIC	T-ALL; VALID;
IL7R_I241>ITLYCKT; chr5; 35874567	IPROTEINI-; -/TACCCTGTATTGTAAGAC; SOMATIC	T-ALL; VALID;
IL7R_L242>DTRVYNSIC; chr5; 35874584	INDEL; PROTEINI-TTAC; -TTAC/GACACACGGGTTTATAATTCTATTTGCT; SOMATIC	T-ALL; VALID;
IL7R_LL242-243>SPCI; chr5; 35874572	INDEL; PROTEINI-TTAC; -TTAC/TCGCCCTGCA; SOMATIC	T-ALL; VALID;
IL7R_V78M; chr5; 35867418	SUB; MISSENSE; G; G/A; SOMATIC	T-ALL; VALID;
IL7R_SLILIVPCACELinsA254; chr5; 35874604	IPROTEINI-; -/TCCCTAATCCTTATTGTGCCGTGCGCCTGCGAGCTA; SOMATIC	T-ALL; VALID;

Mutation (CDS; AA; Chr)	Site	Histology
COSMIC somatic mutation [Top]
c.1088G>A; p.R363K;	liver	carcinoma; hepatocellular_carcinoma
c.1130G>C; p.C377S;	lung	carcinoma; small_cell_carcinoma
c.729_730ins12; p.L243_T244insPPCL; 5:35910330-35910331	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia
c.553A>T; p.S185C; 5:35909354-35909354	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia
c.740_740T>AATGTCA; p.I247>KCH; 5:35910341-35910341	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia
c.553A>T; p.S185C; 5:35909354-35909354	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia
c.726_726A>13; p.L242>FSCGP; 5:35910327-35910327	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia
c.553A>T; p.S185C; 5:35909354-35909354	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia
c.732_732C>GTGCCACCTA; p.T244_I245insCHL; 5:35910333-35910333	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia
c.553A>T; p.S185C; 5:35909354-35909354	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia
c.731_732ins21; p.T244_I245insPPVCSVT; 5:35910332-35910333	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia
c.731_732ins21; p.T244_I245insPPVCSVT; 5:35910332-35910333	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia
c.726_727ins15; p.L242_L243insFCRKD; 5:35910327-35910328	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.726_726A>GAGATGC; p.L242_L243insRC; 5:35910327-35910327	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.728_731TAAC>CGTGCCCCCT; p.L243_T244>PCPL; 5:35910329-35910332	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.730_731ins21; p.L243_T244insMPEQDCP; 5:35910331-35910332	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.737G>C; p.S246T; 5:35910338-35910338	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.710_726>CCTCCTGGTGC; p.E237_L242>ASWC; 5:35910311-35910327	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.725_730TACTAA>GCCCCC; p.L242_T244>CPP; 5:35910326-35910331	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.728_729TA>GCTGCCCGTCC; p.L243>RCPS; 5:35910329-35910330	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.726_726A>16; p.L242>FDCIGV; 5:35910327-35910327	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.733_736ATCA>CACCGTGGGT; p.I245_S246>HRGC; 5:35910334-35910337	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.728_730TAA>12; p.L243_T244>PLCSA; 5:35910329-35910331	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.760_761ins9; p.V253_A254insGEA; 5:35910361-35910362	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.728_731TAAC>19; p.L243_T244>PIYRCVL; 5:35910326-35910329	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.710_726>CCTCCTGGTGC; p.E237_L242>ASWC; 5:35910311-35910327	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.726_726A>TGAGTGT; p.L242>FEC; 5:35910327-35910327	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.726_730ACTAA>TACCTGCCCGT; p.L242_T244>FTCPS; 5:35910327-35910331	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.727_728CT>TGCCCCTCTCC; p.L243>CPSP; 5:35910328-35910329	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.761_763CTC>AAAAAG; p.A254_L255>EKV; 5:35910362-35910364	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.734_736TCA>12; p.I245_S246>SHQPC; 5:35910335-35910337	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.748_749ins24; p.S249_F250insCSTISILS; 5:35910349-35910350	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.743_755>GTCAAAG; p.L248_S251>CQ; 5:35910344-35910356	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.725_731TACTAAC>16; p.L242_T243>CGIREI; 5:35910326-35910332	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.758T>G; p.V253G; 5:35910359-35910359	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.726_727insGGCTGT; p.L242_L243insGC; 5:35910327-35910328	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.727_727C>GGCTGTT; p.L242_L243insGC; 5:35910328-35910328	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.720_726TATCTTA>13; p.I241_L242>CRPH; 5:35910321-35910327	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.727_727C>GGCTGTA; p.L243>GCI; 5:35910328-35910328	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.731_732ins12; p.T244_I245insRPCG; 5:35910332-35910333	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.731_732ins15; p.T244_I245insLPCVY; 5:35910332-35910333	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.725_725T>GCTGGATGAA; p.L242>CWMK; 5:35910326-35910326	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.731_731C>13; p.T244>KKCTN; 5:35910332-35910332	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.726_727ins9; p.L242_L243insNPC; 5:35910327-35910328	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.731_732ins9; p.T244_I245insCPT; 5:35910332-35910333	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.722_730TCTTACTAA>15; p.I241_T244>SANCGA; 5:35910323-35910331	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.728_729ins12; p.L243_T244insVSCP; 5:35910329-35910330	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.731C>T; p.T244I; 5:35910332-35910332	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.741_741T>CCAATGG; p.I247_L248insQW; 5:35910342-35910342	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.717_727>17; p.P240_L242>QSPSC; 5:35910318-35910328	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.721_722AT>TG; p.I241C; 5:35910322-35910323	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.726_727insGAAGGC; p.L242_L243insEG; 5:35910327-35910328	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.755_761CTGTCGC>GGAA; p.S252_A254>WN; 5:35910356-35910362	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.719_731CTATCTTACTAAC>13; p.P240_T244>RFCPH; 5:35910320-35910332	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.719_736>TTAAGT; p.P240_S246>LKC; 5:35910320-35910337	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.726_730ACTAA>20; p.L242_T244>FHPFNCGP; 5:35910327-35910331	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.730_731ins9; p.L243_T244insMCP; 5:35910331-35910332	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.757_758ins9; p.V253>GPSL; 5:35910358-35910359	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.727_728ins12; p.L243>RLECV; 5:35910328-35910329	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.724_736TTACTAACCATCA>13; p.L242_S246>PQGGC; 5:35910325-35910337	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.719_736>TCCAATCAT; p.P240_S246>LQSC; 5:35910320-35910337	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.726_729ACTA>16; p.L242_L243>FPHQHC; 5:35910327-35910330	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.729_730ins12; p.L243_T244insKAGS; 5:35910330-35910331	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.729_730ins12; p.L243_T244insKAGS; 5:35910330-35910331	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.729_730ins12; p.L243_T244insKAGS; 5:35910330-35910331	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.729_730ins12; p.L243_T244insKAGS; 5:35910330-35910331	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.725_728TACT>22; p.L242_L243>WAALLNCE; 5:35910326-35910329	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.729_732AACC>13; p.T244>NECS; 5:35910330-35910333	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.739A>G; p.I247V; 5:35910340-35910340	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.748_759TTTTTCTCTGTC>12; p.F250_V253>PLGE; 5:35910349-35910360	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.604G>A; p.E202K;	skin; ear	malignant_melanoma
c.729_730ins12; p.L243_T244insSRCL; 5:35910330-35910331	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.712_728>CCCTGTAA; p.M238_L243>PCK; 5:35910313-35910329	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.720_721insTGTTCT; p.P240_I241insCS; 5:35910321-35910322	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.727_728insGGCGGA; p.L243>RRI; 5:35910328-35910329	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.712_728>CCCTGTAA; p.M238_L243>PCK; 5:35910313-35910329	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia
c.726_727ins18; p.L242_L243insLTARGC; 5:35910327-35910328	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia
c.727_728insGGCGGA; p.L243>RRI; 5:35910328-35910329	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.799_799delA; p.R267fs*28; 5:35910400-35910400	large_intestine; rectum	carcinoma; adenocarcinoma
c.799_799delA; p.R267fs*28; 5:35910400-35910400	large_intestine; rectum	carcinoma; adenocarcinoma
c.734T>A; p.I245N; 5:35910335-35910335	lung	carcinoma; adenocarcinoma
c.729_731AAC>12; p.T244>SRCG; 5:35910330-35910332	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.731_732ins18; p.T244_I245insNPPCGT; 5:35910332-35910333	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.730_731AC>CGGAT; p.T244>RI; 5:35910331-35910332	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.538-1G>T; p.?;	lung	carcinoma; non_small_cell_carcinoma
c.1021G>A; p.G341R;	NS	malignant_melanoma
c.604G>A; p.E202K;	NS	malignant_melanoma
c.1021G>A; p.G341R;	NS	malignant_melanoma
c.604G>A; p.E202K;	NS	malignant_melanoma
c.528C>A; p.N176K;	skin; upper_arm	malignant_melanoma
c.1336G>T; p.E446*;	large_intestine; colon	carcinoma; adenocarcinoma
c.852A>T; p.E284D;	pancreas	carcinoma; acinar_carcinoma
c.363A>T; p.I121I;	pancreas	carcinoma; adenocarcinoma
c.726_727ins12; p.L242_L243insLSRC; 5:35910327-35910328	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1184A>G; p.K395R;	oesophagus	carcinoma; adenocarcinoma
c.667A>G; p.S223G;	oesophagus; lower_third	carcinoma; adenocarcinoma
c.1184A>G; p.K395R;	oesophagus	carcinoma; adenocarcinoma
c.221+2T>C; p.?;	oesophagus	carcinoma; adenocarcinoma
c.1184A>C; p.K395T;	oesophagus	carcinoma; adenocarcinoma
c.37T>A; p.S13T;	oesophagus	carcinoma; adenocarcinoma
c.731C>T; p.T244I; 5:35910332-35910332	stomach	carcinoma; adenocarcinoma
c.197T>C; p.I66T;	stomach	carcinoma; adenocarcinoma
c.412G>A; p.V138I;	stomach	carcinoma; adenocarcinoma
c.801-3C>G; p.?; 5:35911368-35911368	breast	carcinoma; ductal_carcinoma
c.1057G>T; p.D353Y;	liver	carcinoma
c.706+6G>A; p.?;	skin; trunk	malignant_melanoma; nodular
c.840G>A; p.K280K;	skin; trunk	malignant_melanoma; nodular
c.1151C>A; p.S384Y;	lung	carcinoma; adenocarcinoma
c.400G>T; p.D134Y;	lung	carcinoma; adenocarcinoma
c.374C>A; p.T125N;	lung	carcinoma; adenocarcinoma
c.1216C>A; p.L406I;	autonomic_ganglia	neuroblastoma
c.?; p.?ins22;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia
c.1328C>A; p.S443*;	NS	NS
c.844A>G; p.T282A;	liver	carcinoma
c.758_759insGGTTCTCTG; p.V253_A254insVLC;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.727_728insGGTTGC; p.L242_L243insRL;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1356G>T; p.M452I;	lung	carcinoma; adenocarcinoma
c.1082T>A; p.F361Y;	lung	carcinoma; adenocarcinoma
c.1228A>G; p.T410A; 5:35912193-35912193	ovary	carcinoma; serous_carcinoma
c.166A>T; p.T56S; 5:35896794-35896794	ovary	carcinoma; serous_carcinoma
c.911T>A; p.L304Q;	lung	carcinoma; squamous_cell_carcinoma
c.372C>A; p.T124T;	lung	carcinoma; squamous_cell_carcinoma
c.161C>T; p.S54L;	lung	carcinoma; squamous_cell_carcinoma
c.876A>T; p.K292N;	lung	carcinoma; squamous_cell_carcinoma
c.1102A>T; p.T368S; 5:35912067-35912067	ovary	carcinoma; serous_carcinoma
c.135G>T; p.Q45H;	lung	carcinoma; squamous_cell_carcinoma
c.453T>A; p.N151K;	lung	carcinoma; squamous_cell_carcinoma
c.526A>T; p.N176Y;	ovary	carcinoma; serous_carcinoma
c.1248C>G; p.P416P;	lung	carcinoma; adenocarcinoma
c.1151C>A; p.S384Y;	lung; middle_lobe	carcinoma; adenocarcinoma
c.1170C>A; p.C390*;	lung; right_upper_lobe	carcinoma; adenocarcinoma
c.510C>A; p.R170R;	lung; right_upper_lobe	carcinoma; adenocarcinoma
c.282C>T; p.I94I;	lung	carcinoma; squamous_cell_carcinoma
c.1184A>T; p.K395M;	lung	carcinoma; adenocarcinoma
c.423A>G; p.E141E;	lung	carcinoma; adenocarcinoma
c.1362C>A; p.S454R;	lung	carcinoma; adenocarcinoma
c.732C>A; p.T244T;	lung	carcinoma; adenocarcinoma
c.570C>A; p.L190L;	lung; right_upper_lobe	carcinoma; adenocarcinoma
c.1161C>A; p.S387S;	lung; right_upper_lobe	carcinoma; adenocarcinoma
c.161C>T; p.S54L;	lung	carcinoma; squamous_cell_carcinoma
c.931G>A; p.V311M;	lung	carcinoma; squamous_cell_carcinoma
c.1138C>A; p.P380T;	lung	carcinoma; adenocarcinoma
c.664C>A; p.P222T;	lung	carcinoma; adenocarcinoma
c.638T>G; p.F213C;	lung	carcinoma; squamous_cell_carcinoma
c.688G>T; p.E230*;	lung; right_upper_lobe	carcinoma; adenocarcinoma
c.264A>G; p.L88L;	lung; right_lower_lobe	carcinoma; adenocarcinoma
c.1280C>T; p.T427I;	lung; right_upper_lobe	carcinoma; adenocarcinoma
c.511C>A; p.Q171K;	lung; right_upper_lobe	carcinoma; adenocarcinoma
c.377T>C; p.I126T;	lung; right_upper_lobe	carcinoma; adenocarcinoma
c.400G>T; p.D134Y;	lung; right_lower_lobe	carcinoma; adenocarcinoma
c.444G>T; p.V148V;	kidney	carcinoma; clear_cell_renal_cell_carcinoma
c.51C>T; p.V17V;	endometrium	carcinoma; endometrioid_carcinoma
c.282C>T; p.I94I;	endometrium	carcinoma; endometrioid_carcinoma
c.759C>T; p.V253V;	large_intestine; colon	carcinoma; adenocarcinoma
c.1102A>G; p.T368A;	large_intestine; caecum	carcinoma; adenocarcinoma
c.337G>A; p.E113K;	large_intestine; colon	carcinoma; adenocarcinoma
c.237G>T; p.E79D;	large_intestine; caecum	carcinoma; adenocarcinoma
c.1162C>G; p.L388V;	large_intestine; colon	carcinoma; adenocarcinoma
c.85G>T; p.D29Y;	large_intestine; rectum	carcinoma; adenocarcinoma
c.758T>C; p.V253A;	kidney	carcinoma; clear_cell_renal_cell_carcinoma
c.713T>C; p.M238T;	endometrium	carcinoma; endometrioid_carcinoma
c.1188T>C; p.N396N;	endometrium	carcinoma; endometrioid_carcinoma
c.340A>C; p.K114Q;	endometrium	carcinoma; endometrioid_carcinoma
c.753C>A; p.F251L;	endometrium	carcinoma; endometrioid_carcinoma
c.986C>A; p.P329H;	endometrium	carcinoma; endometrioid_carcinoma
c.166A>G; p.T56A;	large_intestine; colon	carcinoma; adenocarcinoma
c.606G>A; p.E202E;	endometrium	carcinoma; endometrioid_carcinoma
c.1242G>A; p.T414T;	endometrium	carcinoma; endometrioid_carcinoma
c.714G>A; p.M238I;	endometrium	carcinoma; endometrioid_carcinoma
c.38C>G; p.S13C;	breast	carcinoma
c.285G>A; p.E95E;	endometrium	carcinoma; endometrioid_carcinoma
c.346C>A; p.L116I;	endometrium	carcinoma; endometrioid_carcinoma
c.780C>T; p.A260A;	endometrium	carcinoma; endometrioid_carcinoma
c.490A>G; p.M164V;	breast	carcinoma
c.591G>A; p.P197P;	large_intestine; colon	carcinoma; adenocarcinoma
c.270G>T; p.E90D;	large_intestine; colon	carcinoma; adenocarcinoma
c.481A>C; p.K161Q;	large_intestine; colon	carcinoma; adenocarcinoma
c.167C>T; p.T56I;	large_intestine; colon	carcinoma; adenocarcinoma
c.166A>G; p.T56A;	large_intestine; colon	carcinoma; adenocarcinoma
c.291G>T; p.K97N;	endometrium	carcinoma; endometrioid_carcinoma
c.319A>T; p.I107L;	endometrium	carcinoma; endometrioid_carcinoma
c.275A>G; p.Y92C;	endometrium	carcinoma; endometrioid_carcinoma
c.297C>A; p.F99L;	endometrium	carcinoma; endometrioid_carcinoma
c.471G>T; p.K157N;	endometrium	carcinoma; endometrioid_carcinoma
c.1185G>T; p.K395N;	endometrium	carcinoma; endometrioid_carcinoma
c.166A>G; p.T56A;	large_intestine; colon	carcinoma; adenocarcinoma
c.544A>T; p.N182Y;	breast	carcinoma
c.785T>C; p.V262A;	breast	carcinoma
c.166A>G; p.T56A;	large_intestine; colon	carcinoma; adenocarcinoma
c.568C>T; p.L190F;	large_intestine; colon	carcinoma; adenocarcinoma
c.511C>A; p.Q171K;	prostate	carcinoma; adenocarcinoma
c.617G>A; p.R206Q;	skin	malignant_melanoma
c.1154C>T; p.S385F;	skin	malignant_melanoma
c.898C>T; p.P300S;	skin	malignant_melanoma
c.106G>A; p.D36N;	skin	malignant_melanoma
c.307G>A; p.G103R;	skin	malignant_melanoma
c.898C>T; p.P300S;	skin	malignant_melanoma
c.1210C>T; p.L404F;	skin; mucosal	malignant_melanoma
c.418C>T; p.R140W;	skin; mucosal	malignant_melanoma
c.1151C>T; p.S384F;	skin; hand	carcinoma; squamous_cell_carcinoma

PCGP germline mutation [Top]

PCGP somatic mutation [Top]

COSMIC somatic mutation [Top]