Entrez Gene

Basic Information
Gene ID	5781
Name	PTPN11
Synonymous	protein tyrosine phosphatase, non-receptor type 11;PTPN11;protein tyrosine phosphatase, non-receptor type 11
Definition	PTP-2C\|protein-tyrosine phosphatase 1D\|protein-tyrosine phosphatase 2C\|tyrosine-protein phosphatase non-receptor type 11
Position	12q24
Gene Type	protein-coding
Mutation summary:	Mutations in domains Mutational pattern in 17 major cancer types LoF vs missense mutations All the copy number variations from COSMIC database V72 All the mutations from COSMIC database V72

Mutation summary in protein domains

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

Loss of Function mutations compare to missense mutations

Top

The ratio of the loss-of-function mutations over missense mutations is 0.01.

The copy number variations for various cancers

The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.1330C>T; p.H444Y; 12:112486580-112486580	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1507_1508GG>CT; p.G503L; 12:112489083-112489084	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.181G>T; p.D61Y; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.181G>T; p.D61Y; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.181G>T; p.D61Y; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.181G>T; p.D61Y; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.181G>T; p.D61Y; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.181G>T; p.D61Y; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.181G>T; p.D61Y; 12:112450361-112450361	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.181G>T; p.D61Y; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.181G>T; p.D61Y; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.181G>T; p.D61Y; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.181G>T; p.D61Y; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.181G>T; p.D61Y; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.181G>T; p.D61Y; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.181G>T; p.D61Y; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.181G>T; p.D61Y; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.181G>T; p.D61Y; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.181G>T; p.D61Y; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.181G>T; p.D61Y; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.181G>T; p.D61Y; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.181G>T; p.D61Y; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.181G>T; p.D61Y; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.181G>T; p.D61Y; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.181G>T; p.D61Y; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.181G>T; p.D61Y; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.181G>T; p.D61Y; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.181G>T; p.D61Y; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.181G>T; p.D61Y; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.181G>T; p.D61Y; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.181G>T; p.D61Y; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.181G>T; p.D61Y; 12:112450361-112450361	large_intestine; rectum	NS	Substitution - Missense
c.181G>T; p.D61Y; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.181G>T; p.D61Y; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.181G>T; p.D61Y; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.181G>T; p.D61Y; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.181G>T; p.D61Y; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.181G>T; p.D61Y; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.97C>T; p.P33S; 12:112446358-112446358	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.966G>A; p.K322K; 12:112477889-112477889	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - coding silent
c.463G>T; p.D155Y; 12:112453325-112453325	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1507G>A; p.G503R; 12:112489083-112489083	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.1535G>A; p.R512Q; 12:112489111-112489111	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1361C>T; p.P454L; 12:112486611-112486611	oesophagus	carcinoma	Substitution - Missense
c.1505C>T; p.S502L; 12:112489081-112489081	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1505C>T; p.S502L; 12:112489081-112489081	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.1505C>T; p.S502L; 12:112489081-112489081	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1505C>T; p.S502L; 12:112489081-112489081	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1505C>T; p.S502L; 12:112489081-112489081	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.1666G>A; p.D556N; 12:112502210-112502210	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1273G>A; p.D425N; 12:112486523-112486523	skin	malignant_melanoma	Substitution - Missense
c.1764G>T; p.Q588H; 12:112504746-112504746	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1530G>T; p.Q510H; 12:112489106-112489106	skin	malignant_melanoma	Substitution - Missense
c.1530G>T; p.Q510H; 12:112489106-112489106	central_nervous_system; brainstem	glioma; astrocytoma_Grade_II	Substitution - Missense
c.1530G>T; p.Q510H; 12:112489106-112489106	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1508G>T; p.G503V; 12:112489084-112489084	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1508G>T; p.G503V; 12:112489084-112489084	small_intestine; duodenum	carcinoma; adenocarcinoma	Substitution - Missense
c.1508G>T; p.G503V; 12:112489084-112489084	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.567T>C; p.S189S; 12:112454605-112454605	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1508G>T; p.G503V; 12:112489084-112489084	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1508G>T; p.G503V; 12:112489084-112489084	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1508G>T; p.G503V; 12:112489084-112489084	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1508G>T; p.G503V; 12:112489084-112489084	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1508G>T; p.G503V; 12:112489084-112489084	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1508G>T; p.G503V; 12:112489084-112489084	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1508G>T; p.G503V; 12:112489084-112489084	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.1233G>A; p.T411T; 12:112486483-112486483	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1508G>T; p.G503V; 12:112489084-112489084	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1508G>T; p.G503V; 12:112489084-112489084	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1508G>T; p.G503V; 12:112489084-112489084	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1508G>T; p.G503V; 12:112489084-112489084	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1508G>T; p.G503V; 12:112489084-112489084	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1508G>T; p.G503V; 12:112489084-112489084	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1508G>T; p.G503V; 12:112489084-112489084	soft_tissue; striated_muscle	rhabdomyosarcoma; embryonal	Substitution - Missense
c.1519A>G; p.T507A; 12:112489095-112489095	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1519A>G; p.T507A; 12:112489095-112489095	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.523C>T; p.Q175*; 12:112453385-112453385	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.565T>G; p.S189A; 12:112454603-112454603	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.565T>G; p.S189A; 12:112454603-112454603	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1519A>G; p.T507A; 12:112489095-112489095	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1273G>T; p.D425Y; 12:112486523-112486523	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.229T>G; p.L77V; 12:112450409-112450409	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1510A>G; p.M504V; 12:112489086-112489086	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.541G>A; p.V181I; 12:112454579-112454579	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1625A>G; p.Y542C; 12:112502169-112502169	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.541G>A; p.V181I; 12:112454579-112454579	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1381G>A; p.A461T; 12:112488444-112488444	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.245T>C; p.M82T; 12:112450425-112450425	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1381G>A; p.A461T; 12:112488444-112488444	skin	malignant_melanoma	Substitution - Missense
c.182A>T; p.D61V; 12:112450362-112450362	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.182A>T; p.D61V; 12:112450362-112450362	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.182A>T; p.D61V; 12:112450362-112450362	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.182A>T; p.D61V; 12:112450362-112450362	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.182A>T; p.D61V; 12:112450362-112450362	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.182A>T; p.D61V; 12:112450362-112450362	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS	Substitution - Missense
c.182A>T; p.D61V; 12:112450362-112450362	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1507G>C; p.G503R; 12:112489083-112489083	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.182A>T; p.D61V; 12:112450362-112450362	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.182A>T; p.D61V; 12:112450362-112450362	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.182A>T; p.D61V; 12:112450362-112450362	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.182A>T; p.D61V; 12:112450362-112450362	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.182A>T; p.D61V; 12:112450362-112450362	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.182A>T; p.D61V; 12:112450362-112450362	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.182A>T; p.D61V; 12:112450362-112450362	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.182A>T; p.D61V; 12:112450362-112450362	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.182A>T; p.D61V; 12:112450362-112450362	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.182A>T; p.D61V; 12:112450362-112450362	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.182A>T; p.D61V; 12:112450362-112450362	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.182A>T; p.D61V; 12:112450362-112450362	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.182A>T; p.D61V; 12:112450362-112450362	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.182A>T; p.D61V; 12:112450362-112450362	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.182A>T; p.D61V; 12:112450362-112450362	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.182A>T; p.D61V; 12:112450362-112450362	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.182A>T; p.D61V; 12:112450362-112450362	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.182A>T; p.D61V; 12:112450362-112450362	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.182A>T; p.D61V; 12:112450362-112450362	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.182A>T; p.D61V; 12:112450362-112450362	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.182A>T; p.D61V; 12:112450362-112450362	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.182A>T; p.D61V; 12:112450362-112450362	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1621G>A; p.E541K; 12:112502165-112502165	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1382C>G; p.A461G; 12:112488445-112488445	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1651G>A; p.D551N; 12:112502195-112502195	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.436G>T; p.D146Y; 12:112453298-112453298	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1064T>C; p.M355T; 12:112477987-112477987	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1424T>C; p.L475P; 12:112488487-112488487	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.616T>C; p.L206L; 12:112454654-112454654	adrenal_gland; adrenal_gland	adrenal_cortical_adenoma; aldosterone_producing	Substitution - coding silent
c.616T>C; p.L206L; 12:112454654-112454654	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1504T>A; p.S502T; 12:112489080-112489080	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.879C>T; p.H293H; 12:112477676-112477676	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.342T>C; p.H114H; 12:112453204-112453204	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1471C>T; p.P491S; 12:112489047-112489047	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.711T>C; p.A237A; 12:112456018-112456018	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.161T>C; p.I54T; 12:112450341-112450341	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.161T>C; p.I54T; 12:112450341-112450341	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.463G>A; p.D155N; 12:112453325-112453325	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.244A>G; p.M82V; 12:112450424-112450424	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.133G>A; p.V45I; 12:112446394-112446394	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.219T>C; p.T73T; 12:112450399-112450399	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.219T>C; p.T73T; 12:112450399-112450399	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1242G>A; p.T414T; 12:112486492-112486492	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1520C>A; p.T507K; 12:112489096-112489096	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.181G>C; p.D61H; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_leukaemic_transformation_of_polycythaemia_vera	Substitution - Missense
c.181G>C; p.D61H; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1520C>A; p.T507K; 12:112489096-112489096	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1520C>A; p.T507K; 12:112489096-112489096	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.181G>C; p.D61H; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.455G>A; p.R152H; 12:112453317-112453317	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.189T>C; p.Y63Y; 12:112450369-112450369	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.369G>T; p.E123D; 12:112453231-112453231	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.369G>T; p.E123D; 12:112453231-112453231	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1296T>G; p.P432P; 12:112486546-112486546	skin; foot	malignant_melanoma; acral_lentiginous	Substitution - coding silent
c.316G>T; p.D106Y; 12:112450496-112450496	kidney	carcinoma; renal_cell_carcinoma	Substitution - Missense
c.691C>A; p.R231R; 12:112455998-112455998	skin	malignant_melanoma	Substitution - coding silent
c.340C>T; p.H114Y; 12:112453202-112453202	skin	malignant_melanoma	Substitution - Missense
c.340C>T; p.H114Y; 12:112453202-112453202	skin	malignant_melanoma	Substitution - Missense
c.226_227GA>AT; p.E76M; 12:112450406-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.48A>G; p.A16A; 12:112446309-112446309	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1530G>C; p.Q510H; 12:112489106-112489106	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_related	Substitution - Missense
c.1530G>C; p.Q510H; 12:112489106-112489106	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1688G>T; p.C563F; 12:112502232-112502232	skin	malignant_melanoma	Substitution - Missense
c.1530G>C; p.Q510H; 12:112489106-112489106	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1281C>G; p.G427G; 12:112486531-112486531	kidney	carcinoma	Substitution - coding silent
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1281C>G; p.G427G; 12:112486531-112486531	kidney	carcinoma	Substitution - coding silent
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>A; p.E76K; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.658C>T; p.R220C; 12:112455965-112455965	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1504T>C; p.S502P; 12:112489080-112489080	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1504T>C; p.S502P; 12:112489080-112489080	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1504T>C; p.S502P; 12:112489080-112489080	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_related	Substitution - Missense
c.1504T>C; p.S502P; 12:112489080-112489080	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.1504T>C; p.S502P; 12:112489080-112489080	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.1504T>C; p.S502P; 12:112489080-112489080	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.188A>T; p.Y63F; 12:112450368-112450368	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1504T>C; p.S502P; 12:112489080-112489080	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1504T>C; p.S502P; 12:112489080-112489080	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1504T>C; p.S502P; 12:112489080-112489080	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1015A>G; p.N339D; 12:112477938-112477938	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1017T>C; p.N339N; 12:112477940-112477940	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1017T>C; p.N339N; 12:112477940-112477940	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1150C>T; p.R384C; 12:112482131-112482131	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1448G>A; p.G483D; 12:112489024-112489024	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1683G>A; p.P561P; 12:112502227-112502227	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.220T>C; p.L74L; 12:112450400-112450400	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1713-6C>G; p.?; 12:112504689-112504689	ovary	other; neoplasm	Unknown
c.1713-6C>G; p.?; 12:112504689-112504689	ovary	other; neoplasm	Unknown
c.1633A>C; p.I545L; 12:112502177-112502177	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1387A>C; p.I463L; 12:112488450-112488450	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.188A>G; p.Y63C; 12:112450368-112450368	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.206A>G; p.E69G; 12:112450386-112450386	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.206A>G; p.E69G; 12:112450386-112450386	large_intestine; rectum	NS	Substitution - Missense
c.188A>G; p.Y63C; 12:112450368-112450368	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.214G>A; p.A72T; 12:112450394-112450394	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.214G>A; p.A72T; 12:112450394-112450394	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.214G>A; p.A72T; 12:112450394-112450394	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.213T>A; p.F71L; 12:112450393-112450393	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.214G>A; p.A72T; 12:112450394-112450394	soft_tissue; striated_muscle	rhabdomyosarcoma; embryonal	Substitution - Missense
c.214G>A; p.A72T; 12:112450394-112450394	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.214G>A; p.A72T; 12:112450394-112450394	small_intestine; jejunum	carcinoma; adenocarcinoma	Substitution - Missense
c.214G>A; p.A72T; 12:112450394-112450394	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.214G>A; p.A72T; 12:112450394-112450394	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.214G>A; p.A72T; 12:112450394-112450394	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.214G>A; p.A72T; 12:112450394-112450394	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.214G>A; p.A72T; 12:112450394-112450394	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.214G>A; p.A72T; 12:112450394-112450394	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.214G>A; p.A72T; 12:112450394-112450394	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.214G>A; p.A72T; 12:112450394-112450394	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.213T>A; p.F71L; 12:112450393-112450393	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.214G>A; p.A72T; 12:112450394-112450394	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.214G>A; p.A72T; 12:112450394-112450394	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.214G>A; p.A72T; 12:112450394-112450394	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.213T>A; p.F71L; 12:112450393-112450393	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.213T>A; p.F71L; 12:112450393-112450393	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.214G>A; p.A72T; 12:112450394-112450394	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.214G>A; p.A72T; 12:112450394-112450394	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.214G>A; p.A72T; 12:112450394-112450394	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.214G>A; p.A72T; 12:112450394-112450394	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome_therapy_related	Substitution - Missense
c.214G>A; p.A72T; 12:112450394-112450394	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.213T>A; p.F71L; 12:112450393-112450393	central_nervous_system; brain	glioma	Substitution - Missense
c.214G>A; p.A72T; 12:112450394-112450394	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.214G>A; p.A72T; 12:112450394-112450394	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.214G>A; p.A72T; 12:112450394-112450394	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.214G>A; p.A72T; 12:112450394-112450394	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.214G>A; p.A72T; 12:112450394-112450394	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.214G>A; p.A72T; 12:112450394-112450394	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.214G>A; p.A72T; 12:112450394-112450394	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.214G>A; p.A72T; 12:112450394-112450394	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.214G>A; p.A72T; 12:112450394-112450394	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.214G>A; p.A72T; 12:112450394-112450394	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.213T>A; p.F71L; 12:112450393-112450393	small_intestine; jejunum	carcinoma; adenocarcinoma	Substitution - Missense
c.213T>A; p.F71L; 12:112450393-112450393	skin	malignant_melanoma	Substitution - Missense
c.214G>A; p.A72T; 12:112450394-112450394	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.165G>T; p.K55N; 12:112450345-112450345	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.180T>C; p.G60G; 12:112450360-112450360	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.984T>C; p.I328I; 12:112477907-112477907	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.591T>G; p.Y197*; 12:112454629-112454629	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.591T>G; p.Y197*; 12:112454629-112454629	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.178G>C; p.G60R; 12:112450358-112450358	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1562A>T; p.Y521F; 12:112489138-112489138	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.178G>C; p.G60R; 12:112450358-112450358	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	Substitution - Missense
c.178G>C; p.G60R; 12:112450358-112450358	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.178G>C; p.G60R; 12:112450358-112450358	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.178G>C; p.G60R; 12:112450358-112450358	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1528C>A; p.Q510K; 12:112489104-112489104	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.1528C>A; p.Q510K; 12:112489104-112489104	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.540C>T; p.D180D; 12:112454578-112454578	NS	malignant_melanoma	Substitution - coding silent
c.227A>T; p.E76V; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.227A>T; p.E76V; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.227A>T; p.E76V; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.715A>T; p.T239S; 12:112456022-112456022	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.227A>T; p.E76V; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.227A>T; p.E76V; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.227A>T; p.E76V; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.851C>T; p.P284L; 12:112473038-112473038	skin	malignant_melanoma	Substitution - Missense
c.227A>T; p.E76V; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.1471_1472CC>TT; p.P491F; 12:112489047-112489048	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.407T>A; p.L136H; 12:112453269-112453269	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1302C>T; p.G434G; 12:112486552-112486552	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1478_1479CC>TT; p.T493I; 12:112489054-112489055	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1420A>G; p.I474V; 12:112488483-112488483	oesophagus	carcinoma	Substitution - Missense
c.1579C>T; p.R527C; 12:112489155-112489155	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.349C>T; p.L117F; 12:112453211-112453211	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.207G>T; p.E69D; 12:112450387-112450387	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1527A>T; p.A509A; 12:112489103-112489103	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.923A>G; p.N308S; 12:112477720-112477720	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.906A>G; p.S302S; 12:112477703-112477703	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.218C>T; p.T73I; 12:112450398-112450398	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.218C>T; p.T73I; 12:112450398-112450398	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.218C>T; p.T73I; 12:112450398-112450398	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.218C>T; p.T73I; 12:112450398-112450398	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.218C>T; p.T73I; 12:112450398-112450398	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.218C>T; p.T73I; 12:112450398-112450398	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.218C>T; p.T73I; 12:112450398-112450398	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.218C>T; p.T73I; 12:112450398-112450398	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.218C>T; p.T73I; 12:112450398-112450398	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.218C>T; p.T73I; 12:112450398-112450398	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.218C>T; p.T73I; 12:112450398-112450398	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.218C>T; p.T73I; 12:112450398-112450398	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.218C>T; p.T73I; 12:112450398-112450398	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1425T>A; p.L475L; 12:112488488-112488488	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - coding silent
c.177T>C; p.T59T; 12:112450357-112450357	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.1403C>T; p.T468M; 12:112488466-112488466	skin	malignant_melanoma	Substitution - Missense
c.1403C>T; p.T468M; 12:112488466-112488466	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1403C>T; p.T468M; 12:112488466-112488466	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1403C>T; p.T468M; 12:112488466-112488466	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1403C>T; p.T468M; 12:112488466-112488466	skin	malignant_melanoma	Substitution - Missense
c.1403C>T; p.T468M; 12:112488466-112488466	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.205G>A; p.E69K; 12:112450385-112450385	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.205G>A; p.E69K; 12:112450385-112450385	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.205G>A; p.E69K; 12:112450385-112450385	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.205G>A; p.E69K; 12:112450385-112450385	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.205G>A; p.E69K; 12:112450385-112450385	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.205G>A; p.E69K; 12:112450385-112450385	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.205G>A; p.E69K; 12:112450385-112450385	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.205G>A; p.E69K; 12:112450385-112450385	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.205G>A; p.E69K; 12:112450385-112450385	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.205G>A; p.E69K; 12:112450385-112450385	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.205G>A; p.E69K; 12:112450385-112450385	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.205G>A; p.E69K; 12:112450385-112450385	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.205G>A; p.E69K; 12:112450385-112450385	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.205G>A; p.E69K; 12:112450385-112450385	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.205G>A; p.E69K; 12:112450385-112450385	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.205G>A; p.E69K; 12:112450385-112450385	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.205G>A; p.E69K; 12:112450385-112450385	soft_tissue; striated_muscle	rhabdomyosarcoma; embryonal	Substitution - Missense
c.205G>A; p.E69K; 12:112450385-112450385	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.205G>A; p.E69K; 12:112450385-112450385	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.205G>A; p.E69K; 12:112450385-112450385	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.205G>A; p.E69K; 12:112450385-112450385	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1551G>T; p.A517A; 12:112489127-112489127	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.416A>G; p.E139G; 12:112453278-112453278	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.214G>T; p.A72S; 12:112450394-112450394	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.98C>T; p.P33L; 12:112446359-112446359	skin	malignant_melanoma	Substitution - Missense
c.416A>G; p.E139G; 12:112453278-112453278	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.408T>C; p.L136L; 12:112453270-112453270	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.213T>C; p.F71F; 12:112450393-112450393	large_intestine; rectum	NS	Substitution - coding silent
c.1508G>C; p.G503A; 12:112489084-112489084	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Missense
c.1623A>C; p.E541D; 12:112502167-112502167	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1508G>C; p.G503A; 12:112489084-112489084	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1508G>C; p.G503A; 12:112489084-112489084	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1508G>C; p.G503A; 12:112489084-112489084	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1508G>C; p.G503A; 12:112489084-112489084	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1508G>C; p.G503A; 12:112489084-112489084	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1508G>C; p.G503A; 12:112489084-112489084	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1508G>C; p.G503A; 12:112489084-112489084	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1508G>C; p.G503A; 12:112489084-112489084	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1508G>C; p.G503A; 12:112489084-112489084	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1508G>C; p.G503A; 12:112489084-112489084	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1508G>C; p.G503A; 12:112489084-112489084	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1508G>C; p.G503A; 12:112489084-112489084	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1508G>C; p.G503A; 12:112489084-112489084	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1664G>A; p.G555E; 12:112502208-112502208	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.784C>T; p.L262F; 12:112472971-112472971	skin	malignant_melanoma	Substitution - Missense
c.1459G>T; p.D487Y; 12:112489035-112489035	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.181G>A; p.D61N; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.181G>A; p.D61N; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.181G>A; p.D61N; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.181G>A; p.D61N; 12:112450361-112450361	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.675A>C; p.E225D; 12:112455982-112455982	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.673G>T; p.E225*; 12:112455980-112455980	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1472C>T; p.P491L; 12:112489048-112489048	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.1472C>T; p.P491L; 12:112489048-112489048	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.1472C>T; p.P491L; 12:112489048-112489048	skin	malignant_melanoma	Substitution - Missense
c.1473C>A; p.P491P; 12:112489049-112489049	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1277A>T; p.H426L; 12:112486527-112486527	skin	malignant_melanoma	Substitution - Missense
c.1472C>T; p.P491L; 12:112489048-112489048	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1473C>A; p.P491P; 12:112489049-112489049	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1645C>T; p.L549L; 12:112502189-112502189	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1645C>T; p.L549L; 12:112502189-112502189	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.227A>G; p.E76G; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1658C>T; p.T553M; 12:112502202-112502202	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.227A>G; p.E76G; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.227A>G; p.E76G; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.227A>G; p.E76G; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.227A>G; p.E76G; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.227A>G; p.E76G; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.227A>G; p.E76G; 12:112450407-112450407	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.227A>G; p.E76G; 12:112450407-112450407	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.227A>G; p.E76G; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.227A>G; p.E76G; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.227A>G; p.E76G; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.227A>G; p.E76G; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.227A>G; p.E76G; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.227A>G; p.E76G; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1235A>G; p.E412G; 12:112486485-112486485	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.227A>G; p.E76G; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.227A>G; p.E76G; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.227A>G; p.E76G; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.227A>G; p.E76G; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.227A>G; p.E76G; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.227A>G; p.E76G; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.227A>G; p.E76G; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.227A>G; p.E76G; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.227A>G; p.E76G; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.227A>G; p.E76G; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.227A>G; p.E76G; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.227A>G; p.E76G; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.227A>G; p.E76G; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.227A>G; p.E76G; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.227A>G; p.E76G; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.227A>G; p.E76G; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.227A>G; p.E76G; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.227A>G; p.E76G; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.227A>G; p.E76G; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.227A>G; p.E76G; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.227A>G; p.E76G; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.227A>G; p.E76G; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.182A>G; p.D61G; 12:112450362-112450362	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.182A>G; p.D61G; 12:112450362-112450362	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.1529_1530AG>TT; p.Q510L; 12:112489105-112489106	skin	malignant_melanoma	Substitution - Missense
c.182A>G; p.D61G; 12:112450362-112450362	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.687A>G; p.R229R; 12:112455994-112455994	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.174C>A; p.N58K; 12:112450354-112450354	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.155C>G; p.T52S; 12:112450335-112450335	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.155C>G; p.T52S; 12:112450335-112450335	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.232G>A; p.V78I; 12:112450412-112450412	central_nervous_system; brain	glioma; astrocytoma_Grade_II	Substitution - Missense
c.155C>G; p.T52S; 12:112450335-112450335	central_nervous_system; brain	glioma	Substitution - Missense
c.1000C>T; p.L334L; 12:112477923-112477923	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.206A>T; p.E69V; 12:112450386-112450386	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1506A>G; p.S502S; 12:112489082-112489082	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1506A>G; p.S502S; 12:112489082-112489082	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1506A>G; p.S502S; 12:112489082-112489082	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.179G>T; p.G60V; 12:112450359-112450359	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.179G>T; p.G60V; 12:112450359-112450359	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.179G>T; p.G60V; 12:112450359-112450359	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1528C>G; p.Q510E; 12:112489104-112489104	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.179G>T; p.G60V; 12:112450359-112450359	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.179G>T; p.G60V; 12:112450359-112450359	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.179G>T; p.G60V; 12:112450359-112450359	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.179G>T; p.G60V; 12:112450359-112450359	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.179G>T; p.G60V; 12:112450359-112450359	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.179G>T; p.G60V; 12:112450359-112450359	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.179G>T; p.G60V; 12:112450359-112450359	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.179G>T; p.G60V; 12:112450359-112450359	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.179G>T; p.G60V; 12:112450359-112450359	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.179G>T; p.G60V; 12:112450359-112450359	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.179G>T; p.G60V; 12:112450359-112450359	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.179G>T; p.G60V; 12:112450359-112450359	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.179G>T; p.G60V; 12:112450359-112450359	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.179G>T; p.G60V; 12:112450359-112450359	central_nervous_system; brainstem	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.179G>T; p.G60V; 12:112450359-112450359	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.179G>T; p.G60V; 12:112450359-112450359	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.179G>T; p.G60V; 12:112450359-112450359	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.179G>T; p.G60V; 12:112450359-112450359	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.179G>T; p.G60V; 12:112450359-112450359	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.179G>T; p.G60V; 12:112450359-112450359	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>C; p.E76Q; 12:112450406-112450406	soft_tissue; striated_muscle	rhabdomyosarcoma; embryonal	Substitution - Missense
c.226G>C; p.E76Q; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.226G>C; p.E76Q; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.226G>C; p.E76Q; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1254C>A; p.Y418*; 12:112486504-112486504	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.226G>C; p.E76Q; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.226G>C; p.E76Q; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.226G>C; p.E76Q; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.226G>C; p.E76Q; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>C; p.E76Q; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1277A>G; p.H426R; 12:112486527-112486527	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.226G>C; p.E76Q; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.226G>C; p.E76Q; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>C; p.E76Q; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.226G>C; p.E76Q; 12:112450406-112450406	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1482C>T; p.I494I; 12:112489058-112489058	skin	malignant_melanoma	Substitution - coding silent
c.1529A>T; p.Q510L; 12:112489105-112489105	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1529A>T; p.Q510L; 12:112489105-112489105	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.156C>T; p.T52T; 12:112450336-112450336	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.923A>C; p.N308T; 12:112477720-112477720	liver	carcinoma	Substitution - Missense
c.888T>C; p.D296D; 12:112477685-112477685	breast	carcinoma	Substitution - coding silent
c.1509G>A; p.G503G; 12:112489085-112489085	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1473C>T; p.P491P; 12:112489049-112489049	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1704C>T; p.P568P; 12:112502248-112502248	skin	malignant_melanoma	Substitution - coding silent
c.417G>C; p.E139D; 12:112453279-112453279	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.922A>G; p.N308D; 12:112477719-112477719	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.922A>G; p.N308D; 12:112477719-112477719	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1504T>G; p.S502A; 12:112489080-112489080	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS	Substitution - Missense
c.922A>G; p.N308D; 12:112477719-112477719	central_nervous_system; brain	glioma	Substitution - Missense
c.417G>C; p.E139D; 12:112453279-112453279	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.922A>G; p.N308D; 12:112477719-112477719	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.417G>C; p.E139D; 12:112453279-112453279	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.846C>G; p.I282M; 12:112473033-112473033	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.249A>G; p.E83E; 12:112450429-112450429	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.249A>G; p.E83E; 12:112450429-112450429	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.846C>G; p.I282M; 12:112473033-112473033	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.640C>A; p.Q214K; 12:112454678-112454678	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.38G>A; p.G13D; 12:112446299-112446299	breast	carcinoma	Substitution - Missense
c.1521A>G; p.T507T; 12:112489097-112489097	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.937G>T; p.E313*; 12:112477860-112477860	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.215C>A; p.A72D; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.215C>A; p.A72D; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.215C>A; p.A72D; 12:112450395-112450395	central_nervous_system; brain	glioma	Substitution - Missense
c.215C>A; p.A72D; 12:112450395-112450395	central_nervous_system; brain	glioma	Substitution - Missense
c.215C>A; p.A72D; 12:112450395-112450395	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.215C>A; p.A72D; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.215C>A; p.A72D; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.213T>G; p.F71L; 12:112450393-112450393	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1542C>T; p.I514I; 12:112489118-112489118	skin	malignant_melanoma	Substitution - coding silent
c.541G>C; p.V181L; 12:112454579-112454579	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1016A>G; p.N339S; 12:112477939-112477939	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1016A>G; p.N339S; 12:112477939-112477939	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1016A>G; p.N339S; 12:112477939-112477939	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1016A>G; p.N339S; 12:112477939-112477939	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1016A>G; p.N339S; 12:112477939-112477939	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.172A>G; p.N58D; 12:112450352-112450352	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.172A>G; p.N58D; 12:112450352-112450352	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.179G>C; p.G60A; 12:112450359-112450359	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.172A>G; p.N58D; 12:112450352-112450352	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.172A>G; p.N58D; 12:112450352-112450352	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1517A>C; p.Q506P; 12:112489093-112489093	skin	malignant_melanoma	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1517A>C; p.Q506P; 12:112489093-112489093	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.215C>T; p.A72V; 12:112450395-112450395	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.220T>A; p.L74M; 12:112450400-112450400	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.974A>C; p.K325T; 12:112477897-112477897	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1379+2T>C; p.?; 12:112486631-112486631	oesophagus	carcinoma; adenocarcinoma	Unknown
c.1508G>A; p.G503E; 12:112489084-112489084	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1508G>A; p.G503E; 12:112489084-112489084	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.538G>A; p.D180N; 12:112454576-112454576	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1508G>A; p.G503E; 12:112489084-112489084	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1508G>A; p.G503E; 12:112489084-112489084	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1232C>T; p.T411M; 12:112486482-112486482	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.211_213TTT>AAA; p.F71K; 12:112450391-112450393	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.172A>T; p.N58Y; 12:112450352-112450352	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.172A>T; p.N58Y; 12:112450352-112450352	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.1467C>T; p.D489D; 12:112489043-112489043	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.172A>T; p.N58Y; 12:112450352-112450352	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.172A>T; p.N58Y; 12:112450352-112450352	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.836A>G; p.Y279C; 12:112473023-112473023	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1282G>A; p.V428M; 12:112486532-112486532	pancreas	carcinoma	Substitution - Missense
c.857A>T; p.D286V; 12:112477654-112477654	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1282G>A; p.V428M; 12:112486532-112486532	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.211T>C; p.F71L; 12:112450391-112450391	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome_therapy_related	Substitution - Missense
c.211T>C; p.F71L; 12:112450391-112450391	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.211T>C; p.F71L; 12:112450391-112450391	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.211T>C; p.F71L; 12:112450391-112450391	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.450T>C; p.S150S; 12:112453312-112453312	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.772G>T; p.E258*; 12:112472959-112472959	breast	carcinoma	Substitution - Nonsense
c.227A>C; p.E76A; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.227A>C; p.E76A; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_related	Substitution - Missense
c.227A>C; p.E76A; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.227A>C; p.E76A; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.227A>C; p.E76A; 12:112450407-112450407	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1681C>T; p.P561S; 12:112502225-112502225	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.227A>C; p.E76A; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.227A>C; p.E76A; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.227A>C; p.E76A; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.227A>C; p.E76A; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.227A>C; p.E76A; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.227A>C; p.E76A; 12:112450407-112450407	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.227A>C; p.E76A; 12:112450407-112450407	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia	Substitution - Missense
c.1509G>T; p.G503G; 12:112489085-112489085	lung	carcinoma; adenocarcinoma	Substitution - coding silent

Mutation summary in protein domains

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The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

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Loss of Function mutations compare to missense mutations

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The copy number variations for various cancers

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COSMIC somatic mutation [Top]