CR2Cancer

Summary
Symbol	KMT2D
Name	lysine methyltransferase 2D
Aliases	CAGL114; TNRC21; trinucleotide repeat containing 21; myeloid/lymphoid or mixed-lineage leukemia 2; AAD10; KA ......
Location	12q13.12
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Domain, Function and Classification > Gene Ontology > KEGG and Reactome Pathway

> Domain, Function and Classification

[ TOP ]

Domain

PF05965 F/Y rich C-terminus
PF05964 F/Y-rich N-terminus
PF00628 PHD-finger
PF00856 SET domain

Function

Histone methyltransferase. Methylates 'Lys-4' of histone H3 (H3K4me). H3K4me represents a specific tag for epigenetic transcriptional activation. Acts as a coactivator for estrogen receptor by being recruited by ESR1, thereby activating transcription.

Classification

Class	Modification	Substrate	Product	PubMed
Histone modification write	Histone methylation	H3K4	H3K4me	20937768

> Gene Ontology [ TOP ]
Biological Process	GO:0001555 oocyte growth GO:0006342 chromatin silencing GO:0006479 protein methylation GO:0007281 germ cell development GO:0007292 female gamete generation GO:0008213 protein alkylation GO:0009755 hormone-mediated signaling pathway GO:0009994 oocyte differentiation GO:0016049 cell growth GO:0016458 gene silencing GO:0016570 histone modification GO:0016571 histone methylation GO:0018022 peptidyl-lysine methylation GO:0018205 peptidyl-lysine modification GO:0022412 cellular process involved in reproduction in multicellular organism GO:0030518 intracellular steroid hormone receptor signaling pathway GO:0030520 intracellular estrogen receptor signaling pathway GO:0030522 intracellular receptor signaling pathway GO:0032259 methylation GO:0033143 regulation of intracellular steroid hormone receptor signaling pathway GO:0033145 positive regulation of intracellular steroid hormone receptor signaling pathway GO:0033146 regulation of intracellular estrogen receptor signaling pathway GO:0033148 positive regulation of intracellular estrogen receptor signaling pathway GO:0034968 histone lysine methylation GO:0040029 regulation of gene expression, epigenetic GO:0043401 steroid hormone mediated signaling pathway GO:0043414 macromolecule methylation GO:0043627 response to estrogen GO:0045814 negative regulation of gene expression, epigenetic GO:0048477 oogenesis GO:0048545 response to steroid hormone GO:0048588 developmental cell growth GO:0048599 oocyte development GO:0051568 histone H3-K4 methylation GO:0071383 cellular response to steroid hormone stimulus GO:0071396 cellular response to lipid GO:0071407 cellular response to organic cyclic compound GO:1904837 beta-catenin-TCF complex assembly
Molecular Function	GO:0008168 methyltransferase activity GO:0008170 N-methyltransferase activity GO:0008276 protein methyltransferase activity GO:0008757 S-adenosylmethionine-dependent methyltransferase activity GO:0016278 lysine N-methyltransferase activity GO:0016279 protein-lysine N-methyltransferase activity GO:0016741 transferase activity, transferring one-carbon groups GO:0018024 histone-lysine N-methyltransferase activity GO:0042054 histone methyltransferase activity GO:0042800 histone methyltransferase activity (H3-K4 specific)
Cellular Component	GO:0034708 methyltransferase complex GO:0035097 histone methyltransferase complex GO:0044666 MLL3/4 complex

> KEGG and Reactome Pathway [ TOP ]
KEGG	hsa00310 Lysine degradation
Reactome	R-HSA-5619507: Activation of HOX genes during differentiation R-HSA-5617472: Activation of anterior HOX genes in hindbrain development during early embryogenesis R-HSA-3247509: Chromatin modifying enzymes R-HSA-4839726: Chromatin organization R-HSA-3769402: Deactivation of the beta-catenin transactivating complex R-HSA-1266738: Developmental Biology R-HSA-201722: Formation of the beta-catenin R-HSA-3214841: PKMTs methylate histone lysines R-HSA-162582: Signal Transduction R-HSA-195721: Signaling by Wnt R-HSA-201681: TCF dependent signaling in response to WNT

> KEGG and Reactome Pathway

[ TOP ]

KEGG

hsa00310 Lysine degradation

Reactome

R-HSA-5619507: Activation of HOX genes during differentiation
R-HSA-5617472: Activation of anterior HOX genes in hindbrain development during early embryogenesis
R-HSA-3247509: Chromatin modifying enzymes
R-HSA-4839726: Chromatin organization
R-HSA-3769402: Deactivation of the beta-catenin transactivating complex
R-HSA-1266738: Developmental Biology
R-HSA-201722: Formation of the beta-catenin
R-HSA-3214841: PKMTs methylate histone lysines
R-HSA-162582: Signal Transduction
R-HSA-195721: Signaling by Wnt
R-HSA-201681: TCF dependent signaling in response to WNT

Summary
Symbol	KMT2D
Name	lysine methyltransferase 2D
Aliases	CAGL114; TNRC21; trinucleotide repeat containing 21; myeloid/lymphoid or mixed-lineage leukemia 2; AAD10; KA ......
Location	12q13.12
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Mutation landscape in primary tumor tissue from TCGA > Mutation landscape in cancer cell line from CCLE > All mutations from COSMIC database V81 > Variations from text mining

> The Cancer Genome Atlas (TCGA) [ TOP ]

> Cancer Cell Line Encyclopedia (CCLE) [ TOP ]
There is no record.

> Catalogue of Somatic Mutations in Cancer (COSMIC)

[ TOP ]

COSMIC ID	CDS change	AA change	Mutation Type	Anatomical Site
COSM459482	c.9756G>A	p.Q3252Q	Substitution - coding silent	Cervix
COSM693712	c.13900C>T	p.R4634*	Substitution - Nonsense	Lung
COSM4147110	c.2498C>T	p.P833L	Substitution - Missense	Thyroid
COSM4170395	c.14465G>T	p.C4822F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4170423	c.7308_7309insT	p.A2437fs*17	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3986965	c.8499T>A	p.A2833A	Substitution - coding silent	Kidney
COSM939970	c.15473G>A	p.G5158D	Substitution - Missense	Endometrium
COSM4995134	c.12913C>A	p.L4305I	Substitution - Missense	Upper_aerodigestive_tract
COSM30373	c.837C>T	p.C279C	Substitution - coding silent	Kidney
COSM3376278	c.6479T>C	p.L2160P	Substitution - Missense	Pancreas
COSM4431600	c.14298_14300delTGA	p.H4766_E4767>Q	Complex - deletion inframe	Oesophagus
COSM4883756	c.15305C>A	p.T5102N	Substitution - Missense	Upper_aerodigestive_tract
COSM5717662	c.6709C>T	p.H2237Y	Substitution - Missense	Skin
COSM5950027	c.2352delC	p.I785fs*1	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5030711	c.7399_7400insC	p.F2469fs*30	Insertion - Frameshift	Bone
COSM4462814	c.11803C>T	p.L3935L	Substitution - coding silent	Skin
COSM1361963	c.14613C>T	p.P4871P	Substitution - coding silent	Large_intestine
COSM221015	c.11080C>T	p.Q3694*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5652716	c.10021C>T	p.Q3341*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1299435	c.7419_7419+1GG>TT	p.?	Unknown	Urinary_tract
COSM468436	c.12901G>A	p.A4301T	Substitution - Missense	Kidney
COSM3461605	c.2221C>T	p.P741S	Substitution - Missense	Skin
COSM5809348	c.6764G>T	p.G2255V	Substitution - Missense	Liver
COSM4463973	c.12326C>T	p.P4109L	Substitution - Missense	Skin
COSM5487143	c.15419G>A	p.G5140E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5046804	c.9585_9586insG	p.P3196fs*2	Insertion - Frameshift	Oesophagus
COSM4767619	c.15574G>C	p.D5192H	Substitution - Missense	Biliary_tract
COSM3461559	c.7132C>T	p.P2378S	Substitution - Missense	Skin
COSM5638433	c.4792G>T	p.E1598*	Substitution - Nonsense	Oesophagus
COSM1361971	c.12641G>A	p.R4214Q	Substitution - Missense	Large_intestine
COSM126802	c.11095C>T	p.Q3699*	Substitution - Nonsense	Upper_aerodigestive_tract
COSM939957	c.15722A>C	p.D5241A	Substitution - Missense	Endometrium
COSM5232993	c.11437C>T	p.Q3813*	Substitution - Nonsense	Lung
COSM1361985	c.11395C>G	p.L3799V	Substitution - Missense	Large_intestine
COSM4384730	c.8099G>T	p.S2700I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5547471	c.395delC	p.P132fs*76	Deletion - Frameshift	Prostate
COSM4384686	c.15795G>A	p.W5265*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM3461629	c.612C>T	p.F204F	Substitution - coding silent	Skin
COSM3384409	c.14941G>T	p.E4981*	Substitution - Nonsense	Oesophagus
COSM693722	c.14875C>A	p.R4959S	Substitution - Missense	Lung
COSM2006689	c.14068C>T	p.R4690*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM126804	c.2653G>T	p.E885*	Substitution - Nonsense	Lung
COSM221060	c.9151C>T	p.R3051*	Substitution - Nonsense	Oesophagus
COSM302644	c.15550C>T	p.R5184*	Substitution - Nonsense	Soft_tissue
COSM1257780	c.14800G>C	p.A4934P	Substitution - Missense	Stomach
COSM4384750	c.2690C>T	p.P897L	Substitution - Missense	Skin
COSM4884829	c.14971C>T	p.Q4991*	Substitution - Nonsense	Upper_aerodigestive_tract
COSM1637307	c.5815C>T	p.P1939S	Substitution - Missense	Bone
COSM5576304	c.9018_9023delGCAGCA	p.Q3011_Q3012delQQ	Deletion - In frame	Stomach
COSM5909263	c.14092C>T	p.P4698S	Substitution - Missense	Skin
COSM431203	c.10026G>A	p.Q3342Q	Substitution - coding silent	Soft_tissue
COSM221114	c.674-2A>C	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM3398765	c.15528G>C	p.Q5176H	Substitution - Missense	Central_nervous_system
COSM940024	c.9331C>A	p.P3111T	Substitution - Missense	Endometrium
COSM2006671	c.14278C>T	p.R4760C	Substitution - Missense	Large_intestine
COSM2006711	c.13667C>A	p.A4556E	Substitution - Missense	Large_intestine
COSM295089	c.14413G>A	p.G4805R	Substitution - Missense	Skin
COSM1165203	c.3481G>T	p.G1161C	Substitution - Missense	Large_intestine
COSM3968239	c.13369T>C	p.S4457P	Substitution - Missense	Central_nervous_system
COSM5627453	c.7470_7471insT	p.L2491fs*8	Insertion - Frameshift	Oesophagus
COSM5597093	c.10145C>T	p.A3382V	Substitution - Missense	Skin
COSM5362002	c.3704C>G	p.P1235R	Substitution - Missense	Large_intestine
COSM4443832	c.1870T>C	p.S624P	Substitution - Missense	Large_intestine
COSM431199	c.10721G>T	p.G3574V	Substitution - Missense	Breast
COSM940000	c.12013_12014insT	p.Q4005fs*59	Insertion - Frameshift	Endometrium
COSM3935973	c.8866C>T	p.P2956S	Substitution - Missense	Oesophagus
COSM4951256	c.9935G>T	p.R3312L	Substitution - Missense	Liver
COSM4511716	c.7978C>T	p.P2660S	Substitution - Missense	Skin
COSM2006701	c.13841C>T	p.P4614L	Substitution - Missense	Large_intestine
COSM3998821	c.908T>C	p.L303P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1735694	c.?	p.?	Substitution - Missense	Central_nervous_system
COSM940046	c.6762G>A	p.T2254T	Substitution - coding silent	Endometrium
COSM4702447	c.1859C>T	p.P620L	Substitution - Missense	Large_intestine
COSM306830	c.11734_11742GGGCAGGGT>14	p.G3912fs	Complex	Central_nervous_system
COSM4150135	c.49+2T>C	p.?	Unknown	Ovary
COSM221097	c.6908delG	p.G2303fs*10	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM693658	c.3087+1G>T	p.?	Unknown	Lung
COSM5636249	c.2899A>T	p.M967L	Substitution - Missense	Oesophagus
COSM1299442	c.5230C>T	p.Q1744*	Substitution - Nonsense	Urinary_tract
COSM5361254	c.10172delG	p.G3391fs*88	Deletion - Frameshift	Large_intestine
COSM940014	c.10309C>T	p.R3437*	Substitution - Nonsense	Endometrium
COSM4918666	c.8987T>A	p.L2996H	Substitution - Missense	Liver
COSM3384414	c.4192A>C	p.S1398R	Substitution - Missense	Pancreas
COSM5748389	c.2224A>G	p.I742V	Substitution - Missense	Pancreas
COSM4606283	c.13442-9C>T	p.?	Unknown	Upper_aerodigestive_tract
COSM4384716	c.10157G>A	p.R3386H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5051632	c.14004C>T	p.T4668T	Substitution - coding silent	Stomach
COSM5487544	c.13458_13459insA	p.P4487fs*25	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM126803	c.3385C>T	p.Q1129*	Substitution - Nonsense	Skin
COSM4990268	c.2691C>T	p.P897P	Substitution - coding silent	Skin
COSM4850073	c.3244G>A	p.E1082K	Substitution - Missense	Cervix
COSM144605	c.631C>T	p.Q211*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1476606	c.4672G>C	p.D1558H	Substitution - Missense	Breast
COSM1741061	c.4346_4347insGG	p.S1449fs*13	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3773644	c.248G>A	p.R83Q	Substitution - Missense	Soft_tissue
COSM168089	c.6251delC	p.P2084fs*30	Deletion - Frameshift	Stomach
COSM1606206	c.7170A>G	p.E2390E	Substitution - coding silent	Liver
COSM2007315	c.2383G>A	p.A795T	Substitution - Missense	Large_intestine
COSM4702422	c.11984G>A	p.G3995D	Substitution - Missense	Large_intestine
COSM4887363	c.8934C>T	p.L2978L	Substitution - coding silent	Upper_aerodigestive_tract
COSM5949488	c.10225C>T	p.Q3409*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1628639	c.11065C>T	p.Q3689*	Substitution - Nonsense	Liver
COSM4384724	c.8489C>G	p.P2830R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3461557	c.7258C>T	p.L2420L	Substitution - coding silent	Skin
COSM3954834	c.12908T>A	p.F4303Y	Substitution - Missense	Lung
COSM4702426	c.11708C>T	p.P3903L	Substitution - Missense	Skin
COSM3461511	c.13930C>T	p.P4644S	Substitution - Missense	Skin
COSM3812155	c.13803C>G	p.S4601R	Substitution - Missense	Breast
COSM4409107	c.2332G>A	p.V778I	Substitution - Missense	Oesophagus
COSM4431047	c.5154C>T	p.T1718T	Substitution - coding silent	Oesophagus
COSM4702432	c.6669delG	p.F2224fs*49	Deletion - Frameshift	Large_intestine
COSM4990254	c.6624C>A	p.A2208A	Substitution - coding silent	Skin
COSM5575677	c.14615G>A	p.C4872Y	Substitution - Missense	Stomach
COSM1362057	c.2885delG	p.G962fs*95	Deletion - Frameshift	Large_intestine
COSM4467868	c.14316C>T	p.A4772A	Substitution - coding silent	Skin
COSM2006934	c.9440C>T	p.A3147V	Substitution - Missense	Large_intestine
COSM221146	c.10881_10882insT	p.Q3628fs*114	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5715233	c.641G>A	p.C214Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4042383	c.6014C>T	p.P2005L	Substitution - Missense	Stomach
COSM3461591	c.3474G>T	p.E1158D	Substitution - Missense	Skin
COSM3461595	c.2897C>T	p.S966F	Substitution - Missense	Skin
COSM3688232	c.9457C>A	p.P3153T	Substitution - Missense	Large_intestine
COSM3722551	c.6669G>T	p.G2223G	Substitution - coding silent	Soft_tissue
COSM5717662	c.6709C>T	p.H2237Y	Substitution - Missense	Skin
COSM5985335	c.3482G>A	p.G1161D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM6000244	c.1167C>T	p.Y389Y	Substitution - coding silent	Prostate
COSM4384726	c.8474G>A	p.G2825D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3812168	c.1001A>T	p.N334I	Substitution - Missense	Breast
COSM4042373	c.6824C>A	p.P2275H	Substitution - Missense	Stomach
COSM2007420	c.1284C>T	p.P428P	Substitution - coding silent	Large_intestine
COSM3356320	c.9943C>T	p.Q3315*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM3461585	c.4961C>T	p.P1654L	Substitution - Missense	Skin
COSM4170431	c.6218delC	p.P2073fs*5	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4771363	c.14000C>A	p.P4667H	Substitution - Missense	Pleura
COSM4962509	c.1632C>A	p.P544P	Substitution - coding silent	Pancreas
COSM5454140	c.7419+6T>C	p.?	Unknown	Large_intestine
COSM4925475	c.2670G>T	p.V890V	Substitution - coding silent	Liver
COSM940088	c.2012+10G>A	p.?	Unknown	Endometrium
COSM1742149	c.15209G>T	p.R5070L	Substitution - Missense	Urinary_tract
COSM221351	c.11110C>T	p.Q3704*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5462231	c.10383C>A	p.A3461A	Substitution - coding silent	Large_intestine
COSM5696418	c.2973G>T	p.L991L	Substitution - coding silent	Soft_tissue
COSM2006724	c.13351C>T	p.R4451C	Substitution - Missense	Large_intestine
COSM5563651	c.10462C>T	p.Q3488*	Substitution - Nonsense	Prostate
COSM147497	c.2015-8C>T	p.?	Unknown	Soft_tissue
COSM147497	c.2015-8C>T	p.?	Unknown	Large_intestine
COSM5747397	c.1889C>A	p.P630H	Substitution - Missense	Pancreas
COSM2006835	c.11443C>T	p.Q3815*	Substitution - Nonsense	Lung
COSM5612602	c.7810C>T	p.P2604S	Substitution - Missense	Adrenal_gland
COSM4884487	c.12203C>A	p.P4068H	Substitution - Missense	Upper_aerodigestive_tract
COSM144618	c.9494_9503del10	p.I3165fs*13	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1362061	c.1397G>A	p.R466H	Substitution - Missense	Large_intestine
COSM5717662	c.6709C>T	p.H2237Y	Substitution - Missense	Skin
COSM1361969	c.13074delC	p.T4359fs*11	Deletion - Frameshift	Large_intestine
COSM2006795	c.12249G>A	p.P4083P	Substitution - coding silent	Large_intestine
COSM6014928	c.7425G>A	p.K2475K	Substitution - coding silent	Skin
COSM4775569	c.13114G>A	p.V4372I	Substitution - Missense	Skin
COSM5913426	c.14755G>A	p.G4919R	Substitution - Missense	Skin
COSM245707	c.14548C>T	p.R4850C	Substitution - Missense	Prostate
COSM269593	c.5200C>T	p.Q1734*	Substitution - Nonsense	Large_intestine
COSM693698	c.9268C>T	p.Q3090*	Substitution - Nonsense	Lung
COSM4170435	c.5854C>T	p.Q1952*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5920468	c.13294C>T	p.P4432S	Substitution - Missense	Skin
COSM5970723	c.8910G>C	p.L2970L	Substitution - coding silent	Upper_aerodigestive_tract
COSM5990898	c.14201_14202delAG	p.E4734fs*2	Deletion - Frameshift	Prostate
COSM3773644	c.248G>A	p.R83Q	Substitution - Missense	Kidney
COSM1717662	c.7964C>T	p.A2655V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4555641	c.5820G>A	p.P1940P	Substitution - coding silent	Skin
COSM1299454	c.1230G>C	p.G410G	Substitution - coding silent	Urinary_tract
COSM221072	c.12321G>A	p.W4107*	Substitution - Nonsense	Prostate
COSM693702	c.10423C>T	p.Q3475*	Substitution - Nonsense	Lung
COSM4170417	c.7933C>T	p.R2645*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4801613	c.9630G>T	p.Q3210H	Substitution - Missense	Liver
COSM6008964	c.239G>A	p.R80Q	Substitution - Missense	Large_intestine
COSM306830	c.11734_11742GGGCAGGGT>14	p.G3912fs	Complex	Central_nervous_system
COSM4459679	c.10552C>T	p.Q3518*	Substitution - Nonsense	Skin
COSM168089	c.6251delC	p.P2084fs*30	Deletion - Frameshift	Large_intestine
COSM4605690	c.5419C>T	p.Q1807*	Substitution - Nonsense	Upper_aerodigestive_tract
COSM4702406	c.15670_15671insA	p.I5224fs*18	Insertion - Frameshift	Large_intestine
COSM4771401	c.7597C>G	p.P2533A	Substitution - Missense	Breast
COSM2007377	c.1940delC	p.P647fs*38	Deletion - Frameshift	Large_intestine
COSM2007377	c.1940delC	p.P647fs*38	Deletion - Frameshift	Prostate
COSM3461621	c.1657C>T	p.P553S	Substitution - Missense	Skin
COSM379005	c.3001G>A	p.D1001N	Substitution - Missense	Lung
COSM144596	c.4576C>T	p.R1526W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM221017	c.2824G>T	p.D942Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144604	c.15500A>G	p.N4526S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4384706	c.12580C>T	p.Q4194*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4504184	c.5775C>T	p.T1925T	Substitution - coding silent	Skin
COSM127148	c.1259-1G>T	p.?	Unknown	Upper_aerodigestive_tract
COSM240690	c.4285C>T	p.R1429*	Substitution - Nonsense	Prostate
COSM87897	c.7871delC	p.P2624fs*16	Deletion - Frameshift	Central_nervous_system
COSM1606210	c.4067C>A	p.S1356Y	Substitution - Missense	Liver
COSM220685	c.7249C>T	p.R2417*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM268076	c.7955G>A	p.R2652Q	Substitution - Missense	Large_intestine
COSM6008968	c.9308C>G	p.S3103*	Substitution - Nonsense	Large_intestine
COSM6000434	c.3985A>G	p.N1329D	Substitution - Missense	Prostate
COSM3722545	c.6584delC	p.P2195fs*20	Deletion - Frameshift	Upper_aerodigestive_tract
COSM4170433	c.6114delC	p.S2039fs*13	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM939961	c.15669A>C	p.K5223N	Substitution - Missense	Endometrium
COSM221134	c.15098G>A	p.R5033H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4807538	c.14332C>G	p.R4778G	Substitution - Missense	Pancreas
COSM468440	c.10514G>A	p.G3505D	Substitution - Missense	Kidney
COSM3986977	c.4748C>T	p.A1583V	Substitution - Missense	Kidney
COSM221093	c.511-4_515delGCAGCGCTG	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM693700	c.9868G>A	p.D3290N	Substitution - Missense	Lung
COSM940018	c.9999G>A	p.Q3333Q	Substitution - coding silent	Prostate
COSM4575446	c.12778G>A	p.D4260N	Substitution - Missense	Bone
COSM4042363	c.8486G>A	p.R2829H	Substitution - Missense	Stomach
COSM2006795	c.12249G>A	p.P4083P	Substitution - coding silent	Large_intestine
COSM3734756	c.?	p.M1144fs*15	Frameshift	Urinary_tract
COSM1735694	c.?	p.?	Substitution - Missense	Lung
COSM3461565	c.6804C>T	p.F2268F	Substitution - coding silent	Skin
COSM5739645	c.1601C>T	p.T534M	Substitution - Missense	Small_intestine
COSM939980	c.14686G>A	p.A4896T	Substitution - Missense	Endometrium
COSM5232990	c.8938G>T	p.E2980*	Substitution - Nonsense	Lung
COSM693696	c.8804G>T	p.G2935V	Substitution - Missense	Lung
COSM5752392	c.11455_11456delCT	p.L3819fs*17	Deletion - Frameshift	Breast
COSM4042352	c.12386T>C	p.L4129P	Substitution - Missense	Stomach
COSM1735694	c.?	p.?	Substitution - Missense	Central_nervous_system
COSM3398771	c.9797G>A	p.R3266H	Substitution - Missense	Central_nervous_system
COSM5046638	c.8182G>C	p.D2728H	Substitution - Missense	Oesophagus
COSM6005478	c.5240C>G	p.T1747S	Substitution - Missense	Breast
COSM4823634	c.3902C>T	p.P1301L	Substitution - Missense	Cervix
COSM30489	c.1311G>T	p.E437D	Substitution - Missense	Kidney
COSM4042395	c.3541A>G	p.T1181A	Substitution - Missense	Stomach
COSM240692	c.1427_1428delCA	p.A476fs*5	Deletion - Frameshift	Prostate
COSM939955	c.15797T>C	p.M5266T	Substitution - Missense	Endometrium
COSM4702416	c.13113C>T	p.G4371G	Substitution - coding silent	Large_intestine
COSM5051630	c.14962G>A	p.A4988T	Substitution - Missense	Stomach
COSM306875	c.6539_6540AT>AAT	p.Y2180fs	Complex	Central_nervous_system
COSM2007489	c.15G>A	p.K5K	Substitution - coding silent	Large_intestine
COSM1299460	c.254T>C	p.F85S	Substitution - Missense	Urinary_tract
COSM3461531	c.12457C>T	p.P4153S	Substitution - Missense	Skin
COSM5970725	c.7592G>C	p.R2531P	Substitution - Missense	Upper_aerodigestive_tract
COSM3764424	c.14375G>A	p.C4792Y	Substitution - Missense	Central_nervous_system
COSM5986528	c.665_666insGC	p.Y223fs*39	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4042338	c.14080C>T	p.R4694C	Substitution - Missense	Stomach
COSM5047248	c.2337delC	p.S780fs*3	Deletion - Frameshift	Oesophagus
COSM3812157	c.12600G>T	p.K4200N	Substitution - Missense	Breast
COSM1739862	c.15004G>C	p.A5002P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM240684	c.9830G>A	p.R3277H	Substitution - Missense	Prostate
COSM1299433	c.8206G>A	p.D2736N	Substitution - Missense	Urinary_tract
COSM4468161	c.1529C>T	p.S510L	Substitution - Missense	Skin
COSM4877394	c.6569G>T	p.R2190L	Substitution - Missense	Prostate
COSM5946904	c.9211C>T	p.Q3071*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM221122	c.8836G>T	p.E2946*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM221166	c.13976delC	p.P4659fs*66	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5645828	c.14530C>T	p.H4844Y	Substitution - Missense	Oesophagus
COSM6008949	c.9688G>T	p.G3230*	Substitution - Nonsense	Large_intestine
COSM940084	c.2459C>T	p.P820L	Substitution - Missense	Endometrium
COSM1299458	c.828C>T	p.C276C	Substitution - coding silent	Urinary_tract
COSM1512055	c.11782C>T	p.R3928*	Substitution - Nonsense	Oesophagus
COSM5715077	c.12154C>T	p.Q4052*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5945261	c.5863G>T	p.E1955*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5031029	c.?	p.?fs	Frameshift	Central_nervous_system
COSM332224	c.4670C>T	p.P1557L	Substitution - Missense	Lung
COSM939982	c.14650C>T	p.R4884W	Substitution - Missense	Stomach
COSM1362057	c.2885delG	p.G962fs*95	Deletion - Frameshift	Large_intestine
COSM3461509	c.15165C>T	p.P5055P	Substitution - coding silent	Skin
COSM220672	c.8570G>A	p.R2857H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3461525	c.12971C>T	p.A4324V	Substitution - Missense	Skin
COSM4042397	c.3316A>G	p.M1106V	Substitution - Missense	Stomach
COSM5004461	c.1138_1139insC	p.T382fs*2	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5361962	c.4977A>G	p.G1659G	Substitution - coding silent	Large_intestine
COSM2007241	c.3732G>T	p.E1244D	Substitution - Missense	Large_intestine
COSM147495	c.11700A>G	p.P3900P	Substitution - coding silent	Soft_tissue
COSM5112229	c.10369C>T	p.R3457C	Substitution - Missense	Biliary_tract
COSM221058	c.7501C>T	p.R2501*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM939990	c.14279G>A	p.R4760H	Substitution - Missense	Endometrium
COSM4775569	c.13114G>A	p.V4372I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5051634	c.9794A>T	p.H3265L	Substitution - Missense	Stomach
COSM4436363	c.14540G>A	p.C4847Y	Substitution - Missense	Oesophagus
COSM5986523	c.4407_4408insC	p.A1470fs*8	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM295089	c.14413G>A	p.G4805R	Substitution - Missense	Large_intestine
COSM3461567	c.6606C>G	p.P2202P	Substitution - coding silent	Skin
COSM3780993	c.4510-2A>G	p.?	Unknown	Pancreas
COSM3871730	c.10290C>T	p.F3430F	Substitution - coding silent	Skin
COSM4042401	c.2876C>T	p.P959L	Substitution - Missense	Prostate
COSM4495418	c.3719C>T	p.P1240L	Substitution - Missense	Skin
COSM4610936	c.8093delC	p.P2698fs*36	Deletion - Frameshift	Large_intestine
COSM5569702	c.8044A>C	p.T2682P	Substitution - Missense	Prostate
COSM2007213	c.4010_4011insA	p.R1338fs*20	Insertion - Frameshift	Large_intestine
COSM1286209	c.15703G>A	p.G5235R	Substitution - Missense	Autonomic_ganglia
COSM5967275	c.6395C>G	p.S2132*	Substitution - Nonsense	Salivary_gland
COSM1299429	c.9874G>T	p.E3292*	Substitution - Nonsense	Urinary_tract
COSM4152836	c.9421+8C>T	p.?	Unknown	Kidney
COSM5780719	c.6682C>G	p.L2228V	Substitution - Missense	Breast
COSM940018	c.9999G>A	p.Q3333Q	Substitution - coding silent	Upper_aerodigestive_tract
COSM1171907	c.7621C>T	p.Q2541*	Substitution - Nonsense	Oesophagus
COSM5506405	c.1485_1486delTC	p.P496fs*3	Deletion - Frameshift	Biliary_tract
COSM30382	c.8516C>A	p.P2839H	Substitution - Missense	Bone
COSM4147106	c.4303A>G	p.T1435A	Substitution - Missense	Thyroid
COSM431216	c.1557delC	p.L520fs*165	Deletion - Frameshift	Breast
COSM4880271	c.10396C>T	p.Q3466*	Substitution - Nonsense	Prostate
COSM4985424	c.5778T>A	p.Y1926*	Substitution - Nonsense	Soft_tissue
COSM4467495	c.14120C>T	p.P4707L	Substitution - Missense	Skin
COSM4982659	c.3090delT	p.R1031fs*26	Deletion - Frameshift	Oesophagus
COSM5420668	c.1150G>A	p.E384K	Substitution - Missense	Prostate
COSM1735693	c.?	p.P808Q	Substitution - Missense	Skin
COSM5721935	c.7901C>T	p.P2634L	Substitution - Missense	Skin
COSM4042350	c.12593G>A	p.R4198Q	Substitution - Missense	Stomach
COSM3461589	c.3575C>T	p.P1192L	Substitution - Missense	Skin
COSM240690	c.4285C>T	p.R1429*	Substitution - Nonsense	Oesophagus
COSM1362014	c.7909delT	p.Y2637fs*3	Deletion - Frameshift	Large_intestine
COSM5656354	c.11603_11604insTT	p.V3869fs*4	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4951049	c.7117_7118delGA	p.E2373fs*11	Deletion - Frameshift	Liver
COSM221056	c.7243C>T	p.R2415*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4185610	c.11120T>G	p.L3707R	Substitution - Missense	Kidney
COSM4388035	c.6359C>T	p.P2120L	Substitution - Missense	Pancreas
COSM4604033	c.9935G>A	p.R3312Q	Substitution - Missense	Upper_aerodigestive_tract
COSM4459961	c.10681C>T	p.Q3561*	Substitution - Nonsense	Skin
COSM5442763	c.3313-5_3313-2delCCCA	p.?	Unknown	Oesophagus
COSM5671041	c.13406C>T	p.P4469L	Substitution - Missense	Soft_tissue
COSM3461607	c.2038C>T	p.P680S	Substitution - Missense	Skin
COSM5433017	c.4993C>G	p.L1665V	Substitution - Missense	Oesophagus
COSM940068	c.4021C>T	p.R1341W	Substitution - Missense	Endometrium
COSM5896172	c.9508G>A	p.A3170T	Substitution - Missense	Skin
COSM221168	c.9104_9119del16	p.S3035fs*20	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5644005	c.11582C>A	p.P3861H	Substitution - Missense	Oesophagus
COSM5771396	c.14849G>A	p.R4950H	Substitution - Missense	Breast
COSM144619	c.9559_9560delCT	p.L3187fs*10	Deletion - Frameshift	Breast
COSM4754805	c.12259A>G	p.R4087G	Substitution - Missense	Stomach
COSM3461537	c.12034C>T	p.R4012*	Substitution - Nonsense	Cervix
COSM3688230	c.9996A>G	p.Q3332Q	Substitution - coding silent	Large_intestine
COSM4949883	c.13265+1G>T	p.?	Unknown	Liver
COSM5630694	c.15171_15172insT	p.E5058fs*1	Insertion - Frameshift	Oesophagus
COSM4042356	c.11365G>A	p.A3789T	Substitution - Missense	Stomach
COSM1739927	c.7706C>G	p.S2569*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4448999	c.14739_14758del20	p.V4914fs*8	Deletion - Frameshift	Skin
COSM4817222	c.8934C>G	p.L2978L	Substitution - coding silent	Cervix
COSM5516612	c.6861G>A	p.P2287P	Substitution - coding silent	Biliary_tract
COSM5430498	c.4507delC	p.Q1503fs*12	Deletion - Frameshift	Oesophagus
COSM221050	c.7276C>T	p.Q2426*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4754803	c.14912T>A	p.F4971Y	Substitution - Missense	Stomach
COSM4990240	c.13357C>T	p.P4453S	Substitution - Missense	Skin
COSM5005810	c.7638A>G	p.Q2546Q	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM78991	c.4507C>T	p.Q1503*	Substitution - Nonsense	Pancreas
COSM302652	c.7751_7752insT	p.L2584fs*13	Insertion - Frameshift	Central_nervous_system
COSM693712	c.13900C>T	p.R4634*	Substitution - Nonsense	Oesophagus
COSM3986973	c.6508G>A	p.V2170I	Substitution - Missense	Kidney
COSM4995138	c.10012C>T	p.Q3338*	Substitution - Nonsense	Upper_aerodigestive_tract
COSM4622637	c.15040T>C	p.F5014L	Substitution - Missense	Large_intestine
COSM5731118	c.5336G>A	p.W1779*	Substitution - Nonsense	Breast
COSM4042367	c.8435G>A	p.R2812Q	Substitution - Missense	Stomach
COSM4916265	c.15602+1G>T	p.?	Unknown	Liver
COSM4170445	c.3539A>G	p.H1180R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1719510	c.11554G>A	p.G3852R	Substitution - Missense	Skin
COSM4888467	c.14025C>A	p.P4675P	Substitution - coding silent	Upper_aerodigestive_tract
COSM5640627	c.15020delA	p.E5007fs*12	Deletion - Frameshift	Oesophagus
COSM5907611	c.4253C>T	p.P1418L	Substitution - Missense	Skin
COSM3733471	c.7645C>T	p.Q2549*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM693639	c.400+1G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM245707	c.14548C>T	p.R4850C	Substitution - Missense	Large_intestine
COSM2007459	c.661delG	p.A221fs*40	Deletion - Frameshift	Breast
COSM3733291	c.7643G>A	p.W2548*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4612317	c.6515_6516insC	p.R2173fs*6	Insertion - Frameshift	Large_intestine
COSM2006976	c.8455delG	p.V2819fs*30	Deletion - Frameshift	Soft_tissue
COSM3812164	c.1884A>C	p.P628P	Substitution - coding silent	Breast
COSM215537	c.10845_10846insC	p.Q3616fs*126	Insertion - Frameshift	Central_nervous_system
COSM5362002	c.3704C>G	p.P1235R	Substitution - Missense	Large_intestine
COSM940092	c.1396C>T	p.R466C	Substitution - Missense	Endometrium
COSM1289774	c.13081C>A	p.P4361T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3722551	c.6669G>T	p.G2223G	Substitution - coding silent	Large_intestine
COSM4384702	c.13469C>T	p.A4490V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4384732	c.7531C>T	p.P2511S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5047114	c.10031C>G	p.S3344*	Substitution - Nonsense	Oesophagus
COSM4434236	c.3379T>C	p.C1127R	Substitution - Missense	Oesophagus
COSM4767619	c.15574G>C	p.D5192H	Substitution - Missense	Biliary_tract
COSM4951049	c.7117_7118delGA	p.E2373fs*11	Deletion - Frameshift	Liver
COSM5986657	c.7279_7289del11	p.R2427fs*23	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM2007217	c.3980T>C	p.L1327P	Substitution - Missense	Large_intestine
COSM3461601	c.2300C>T	p.S767F	Substitution - Missense	Skin
COSM4042344	c.12865C>G	p.L4289V	Substitution - Missense	Stomach
COSM4951256	c.9935G>T	p.R3312L	Substitution - Missense	Liver
COSM2007074	c.6591T>G	p.H2197Q	Substitution - Missense	Large_intestine
COSM4652268	c.11621A>G	p.Q3874R	Substitution - Missense	Large_intestine
COSM5218200	c.5524delG	p.A1842fs*32	Deletion - Frameshift	Breast
COSM5576100	c.3271G>A	p.V1091M	Substitution - Missense	Stomach
COSM5715231	c.3209A>T	p.D1070V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2006976	c.8455delG	p.V2819fs*30	Deletion - Frameshift	Large_intestine
COSM4807079	c.2014+7C>G	p.?	Unknown	Pancreas
COSM2007170	c.4663G>A	p.D1555N	Substitution - Missense	Breast
COSM221058	c.7501C>T	p.R2501*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4984527	c.894C>G	p.Y298*	Substitution - Nonsense	Oesophagus
COSM221012	c.15401C>T	p.S5134F	Substitution - Missense	Adrenal_gland
COSM3461553	c.7876C>T	p.P2626S	Substitution - Missense	Skin
COSM4702426	c.11708C>T	p.P3903L	Substitution - Missense	Large_intestine
COSM5232991	c.9148G>A	p.A3050T	Substitution - Missense	Lung
COSM4384704	c.13336G>A	p.G4446R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4426864	c.6125C>G	p.S2042*	Substitution - Nonsense	Cervix
COSM693724	c.15519C>A	p.Y5173*	Substitution - Nonsense	Lung
COSM5420146	c.15709G>T	p.E5237*	Substitution - Nonsense	Pancreas
COSM3986981	c.1391C>T	p.A464V	Substitution - Missense	Kidney
COSM5492954	c.5984delG	p.G1995fs*21	Deletion - Frameshift	Biliary_tract
COSM5947985	c.8745delT	p.F2915fs*12	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4807076	c.1795C>G	p.L599V	Substitution - Missense	Pancreas
COSM215539	c.3749G>T	p.C1250F	Substitution - Missense	Central_nervous_system
COSM1257787	c.15717C>A	p.T5239T	Substitution - coding silent	Oesophagus
COSM4147090	c.13791T>G	p.Y4597*	Substitution - Nonsense	Thyroid
COSM4949883	c.13265+1G>T	p.?	Unknown	Liver
COSM4961132	c.299G>A	p.G100E	Substitution - Missense	Liver
COSM1299456	c.955-1G>A	p.?	Unknown	Urinary_tract
COSM5046804	c.9585_9586insG	p.P3196fs*2	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4170445	c.3539A>G	p.H1180R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3461561	c.6880A>C	p.S2294R	Substitution - Missense	Skin
COSM4413655	c.3332G>T	p.G1111V	Substitution - Missense	Prostate
COSM4830357	c.12862G>C	p.E4288Q	Substitution - Missense	Cervix
COSM1257783	c.8449C>T	p.R2817W	Substitution - Missense	Oesophagus
COSM1735693	c.?	p.P808Q	Substitution - Missense	Skin
COSM88090	c.15691C>T	p.R5231*	Substitution - Nonsense	Central_nervous_system
COSM3710767	c.9765G>T	p.L3255L	Substitution - coding silent	Upper_aerodigestive_tract
COSM5929418	c.2855C>T	p.P952L	Substitution - Missense	Skin
COSM4448888	c.13283delA	p.D4428fs*99	Deletion - Frameshift	Skin
COSM30359	c.7556G>A	p.R2519Q	Substitution - Missense	Kidney
COSM221120	c.14465G>A	p.C4822Y	Substitution - Missense	Oesophagus
COSM1578603	c.1244A>C	p.E415A	Substitution - Missense	Meninges
COSM3461619	c.1817C>T	p.S606F	Substitution - Missense	Skin
COSM1299427	c.12600G>C	p.K4200N	Substitution - Missense	Urinary_tract
COSM2006587	c.15365G>A	p.R5122H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5019633	c.15168T>G	p.L5056L	Substitution - coding silent	Soft_tissue
COSM5232989	c.6116C>A	p.S2039*	Substitution - Nonsense	Lung
COSM1128578	c.14516G>T	p.C4839F	Substitution - Missense	Prostate
COSM1215210	c.3374C>T	p.S1125L	Substitution - Missense	Large_intestine
COSM4170449	c.3329G>A	p.C1110Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5051640	c.3395A>G	p.H1132R	Substitution - Missense	Stomach
COSM5434383	c.6442C>T	p.Q2148*	Substitution - Nonsense	Oesophagus
COSM221110	c.3874+2T>G	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM144610	c.7648C>T	p.Q2550*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4612871	c.9843delA	p.A3282fs*106	Deletion - Frameshift	Large_intestine
COSM2006930	c.9578_9579insG	p.P3196fs*2	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4622641	c.4182G>T	p.E1394D	Substitution - Missense	Large_intestine
COSM5574328	c.9265_9265delG	p.Q3090fs*32	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM6008934	c.3666C>G	p.Y1222*	Substitution - Nonsense	Large_intestine
COSM5031029	c.?	p.?fs	Frameshift	Central_nervous_system
COSM4426864	c.6125C>G	p.S2042*	Substitution - Nonsense	Oesophagus
COSM4856121	c.10905G>A	p.Q3635Q	Substitution - coding silent	Cervix
COSM2007481	c.213C>T	p.C71C	Substitution - coding silent	Adrenal_gland
COSM1606212	c.2583G>A	p.Q861Q	Substitution - coding silent	Liver
COSM271392	c.3677G>T	p.G1226V	Substitution - Missense	Large_intestine
COSM1361989	c.10798A>G	p.M3600V	Substitution - Missense	Large_intestine
COSM1735694	c.?	p.?	Substitution - Missense	Skin
COSM3461513	c.13921C>T	p.P4641S	Substitution - Missense	Skin
COSM4467209	c.13963C>T	p.P4655S	Substitution - Missense	Skin
COSM5701377	c.3040_3041insG	p.E1014fs*38	Insertion - Frameshift	Soft_tissue
COSM220678	c.14830C>T	p.R4944C	Substitution - Missense	Bone
COSM693682	c.5686C>T	p.Q1896*	Substitution - Nonsense	Lung
COSM2007469	c.478G>A	p.V160M	Substitution - Missense	Large_intestine
COSM4487076	c.2319C>T	p.A773A	Substitution - coding silent	Skin
COSM4881352	c.12277G>T	p.A4093S	Substitution - Missense	Upper_aerodigestive_tract
COSM5922983	c.6613C>T	p.P2205S	Substitution - Missense	Skin
COSM940022	c.9848G>A	p.G3283D	Substitution - Missense	Endometrium
COSM1235128	c.13327_13328delAG	p.S4443fs*68	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5695983	c.13007_13010delACTA	p.Y4336fs*10	Deletion - Frameshift	Soft_tissue
COSM3461545	c.10369C>G	p.R3457G	Substitution - Missense	Skin
COSM693647	c.1557C>T	p.P519P	Substitution - coding silent	Lung
COSM2007124	c.5474G>A	p.R1825H	Substitution - Missense	Oesophagus
COSM4438081	c.13061C>T	p.S4354L	Substitution - Missense	Oesophagus
COSM5890716	c.4195C>T	p.P1399S	Substitution - Missense	Skin
COSM4983914	c.7097C>G	p.S2366*	Substitution - Nonsense	Oesophagus
COSM5599941	c.7252G>T	p.E2418*	Substitution - Nonsense	Skin
COSM2007122	c.5544delC	p.A1849fs*25	Deletion - Frameshift	Breast
COSM5628750	c.13603G>T	p.E4535*	Substitution - Nonsense	Oesophagus
COSM4788496	c.13857C>A	p.P4619P	Substitution - coding silent	Liver
COSM88086	c.15485G>A	p.R5162Q	Substitution - Missense	Skin
COSM1476604	c.10056_10058delCCA	p.Q3353delQ	Deletion - In frame	Breast
COSM2006617	c.14831G>A	p.R4944H	Substitution - Missense	Large_intestine
COSM3954847	c.673G>C	p.E225Q	Substitution - Missense	Lung
COSM940062	c.4335G>A	p.A1445A	Substitution - coding silent	Endometrium
COSM147495	c.11700A>G	p.P3900P	Substitution - coding silent	Soft_tissue
COSM4170393	c.14694delC	p.I4899fs*74	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1731944	c.1143delC	p.T382fs*20	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM940036	c.7264C>T	p.R2422W	Substitution - Missense	Endometrium
COSM468461	c.969C>T	p.C323C	Substitution - coding silent	Kidney
COSM5576818	c.12511G>A	p.G4171R	Substitution - Missense	Skin
COSM5671043	c.11261A>T	p.K3754M	Substitution - Missense	Soft_tissue
COSM4467463	c.1490C>T	p.P497L	Substitution - Missense	Skin
COSM3359760	c.9796C>T	p.R3266C	Substitution - Missense	Kidney
COSM6005460	c.?	p.L4156fs*6	Frameshift	Breast
COSM1719510	c.11554G>A	p.G3852R	Substitution - Missense	Skin
COSM4147104	c.7443G>A	p.L2481L	Substitution - coding silent	Thyroid
COSM4170456	c.1260delG	p.A422fs*13	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4754813	c.10339C>T	p.Q3447*	Substitution - Nonsense	Stomach
COSM4990250	c.8362G>A	p.D2788N	Substitution - Missense	Skin
COSM4643731	c.246A>G	p.L82L	Substitution - coding silent	Large_intestine
COSM5599937	c.9532C>T	p.P3178S	Substitution - Missense	Skin
COSM302644	c.15550C>T	p.R5184*	Substitution - Nonsense	Large_intestine
COSM4042403	c.2360A>C	p.K787T	Substitution - Missense	Stomach
COSM940074	c.3341G>C	p.G1114A	Substitution - Missense	Endometrium
COSM4436268	c.13316C>A	p.S4439*	Substitution - Nonsense	Oesophagus
COSM4503358	c.5575C>T	p.P1859S	Substitution - Missense	Skin
COSM693720	c.14726G>T	p.R4909L	Substitution - Missense	Lung
COSM939974	c.14871C>A	p.C4957*	Substitution - Nonsense	Endometrium
COSM4767619	c.15574G>C	p.D5192H	Substitution - Missense	Oesophagus
COSM3968248	c.1545G>A	p.L515L	Substitution - coding silent	Central_nervous_system
COSM6014926	c.12432C>T	p.S4144S	Substitution - coding silent	Skin
COSM5752576	c.4972+1G>T	p.?	Unknown	Breast
COSM431203	c.10026G>A	p.Q3342Q	Substitution - coding silent	Soft_tissue
COSM4170421	c.7633C>T	p.Q2545*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5349812	c.4969C>T	p.Q1657*	Substitution - Nonsense	Lung
COSM4042348	c.12640C>T	p.R4214*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4702453	c.169G>A	p.D57N	Substitution - Missense	Large_intestine
COSM5048097	c.1075C>T	p.R359C	Substitution - Missense	Oesophagus
COSM5349808	c.6959C>T	p.S2320L	Substitution - Missense	Lung
COSM6014932	c.2292C>T	p.S764S	Substitution - coding silent	Skin
COSM2007241	c.3732G>T	p.E1244D	Substitution - Missense	Large_intestine
COSM88090	c.15691C>T	p.R5231*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1662784	c.5216A>G	p.D1739G	Substitution - Missense	Kidney
COSM5887406	c.6241G>A	p.E2081K	Substitution - Missense	Skin
COSM3356327	c.1570G>T	p.E524*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4826473	c.10083C>G	p.L3361L	Substitution - coding silent	Cervix
COSM3764422	c.14671G>T	p.E4891*	Substitution - Nonsense	Central_nervous_system
COSM4639889	c.2474T>C	p.M825T	Substitution - Missense	Large_intestine
COSM1717602	c.7390C>T	p.R2464*	Substitution - Nonsense	Oesophagus
COSM4170427	c.7123C>T	p.R2375*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4850401	c.14095G>T	p.E4699*	Substitution - Nonsense	Cervix
COSM5020715	c.13663C>T	p.R4555W	Substitution - Missense	Soft_tissue
COSM221142	c.4817_4820delACAG	p.D1606fs*38	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1628641	c.5373+7C>G	p.?	Unknown	Liver
COSM221056	c.7243C>T	p.R2415*	Substitution - Nonsense	Central_nervous_system
COSM468442	c.4939A>G	p.S1647G	Substitution - Missense	Kidney
COSM939986	c.14507G>A	p.R4836H	Substitution - Missense	Upper_aerodigestive_tract
COSM3461571	c.6132C>T	p.T2044T	Substitution - coding silent	Skin
COSM4381083	c.4018C>T	p.Q1340*	Substitution - Nonsense	Soft_tissue
COSM4575438	c.14280T>G	p.R4760R	Substitution - coding silent	Bone
COSM4754819	c.4189G>A	p.V1397I	Substitution - Missense	Stomach
COSM5413601	c.31A>G	p.K11E	Substitution - Missense	Prostate
COSM4042326	c.15361C>T	p.L5121L	Substitution - coding silent	Stomach
COSM4042320	c.15637G>A	p.A5213T	Substitution - Missense	Stomach
COSM221150	c.7508_7509insCGACTCT	p.R2504fs*73	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1215204	c.4404G>T	p.E1468D	Substitution - Missense	Large_intestine
COSM5020054	c.11218T>C	p.S3740P	Substitution - Missense	Soft_tissue
COSM144890	c.3202-4_3202-3delTC	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM2007011	c.7712C>T	p.P2571L	Substitution - Missense	Large_intestine
COSM3461515	c.13648C>T	p.P4550S	Substitution - Missense	Skin
COSM4384712	c.10520T>G	p.M3507R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM348682	c.4225G>A	p.E1409K	Substitution - Missense	Endometrium
COSM144597	c.7019T>C	p.L2340P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM221087	c.4301delA	p.H1434fs*15	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM221152	c.8515_8516insG	p.P2839fs*9	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1717602	c.7390C>T	p.R2464*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM30383	c.6185C>T	p.T2062I	Substitution - Missense	Kidney
COSM5047348	c.6712_6713insT	p.A2238fs*147	Insertion - Frameshift	Oesophagus
COSM395507	c.8660G>T	p.G2887V	Substitution - Missense	Lung
COSM1318011	c.12311T>A	p.L4104Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4589610	c.2754_2755insC	p.V919fs*15	Insertion - Frameshift	Skin
COSM266937	c.3782G>A	p.C1261Y	Substitution - Missense	Large_intestine
COSM5950156	c.2645delT	p.L882fs*9	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM939984	c.14565C>A	p.F4855L	Substitution - Missense	Endometrium
COSM1739892	c.10000C>T	p.Q3334*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5631262	c.9820G>A	p.A3274T	Substitution - Missense	Oesophagus
COSM5757632	c.553C>T	p.R185C	Substitution - Missense	Eye
COSM4501826	c.5181C>T	p.S1727S	Substitution - coding silent	Skin
COSM5721935	c.7901C>T	p.P2634L	Substitution - Missense	Skin
COSM3461581	c.5484C>T	p.D1828D	Substitution - coding silent	Skin
COSM5646208	c.1031C>T	p.S344F	Substitution - Missense	Oesophagus
COSM5759660	c.14787_14788insT	p.H4930fs*2	Insertion - Frameshift	Bone
COSM5031029	c.?	p.?fs	Frameshift	Central_nervous_system
COSM6007850	c.336T>A	p.S112R	Substitution - Missense	Prostate
COSM4575459	c.1797G>A	p.L599L	Substitution - coding silent	Bone
COSM5487143	c.15419G>A	p.G5140E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5634276	c.14737delC	p.V4914fs*59	Deletion - Frameshift	Oesophagus
COSM302654	c.5544_5545insC	p.A1849fs*36	Insertion - Frameshift	Central_nervous_system
COSM4475862	c.2012+8C>T	p.?	Unknown	Skin
COSM4767619	c.15574G>C	p.D5192H	Substitution - Missense	Cervix
COSM5713505	c.7476delG	p.P2493fs*24	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1512055	c.11782C>T	p.R3928*	Substitution - Nonsense	Liver
COSM1739931	c.14863C>T	p.R4955C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4042332	c.14733G>T	p.G4911G	Substitution - coding silent	Stomach
COSM4597825	c.11395C>T	p.L3799F	Substitution - Missense	Upper_aerodigestive_tract
COSM4529186	c.15126G>A	p.E5042E	Substitution - coding silent	Skin
COSM4431598	c.15301G>A	p.E5101K	Substitution - Missense	Oesophagus
COSM4384686	c.15795G>A	p.W5265*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM3986967	c.8341G>C	p.A2781P	Substitution - Missense	Kidney
COSM255258	c.12552_12553ins14	p.R4185fs*69	Insertion - Frameshift	Central_nervous_system
COSM5591867	c.12951G>A	p.G4317G	Substitution - coding silent	Skin
COSM4787953	c.4818C>A	p.D1606E	Substitution - Missense	Liver
COSM2007025	c.7201G>A	p.G2401S	Substitution - Missense	Large_intestine
COSM4384698	c.13913C>T	p.A4638V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM358696	c.1965C>T	p.P655P	Substitution - coding silent	Lung
COSM5415896	c.4048_4051delGAGG	p.E1350fs*98	Deletion - Frameshift	Soft_tissue
COSM147495	c.11700A>G	p.P3900P	Substitution - coding silent	Soft_tissue
COSM4170411	c.11327G>A	p.G3776E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4187525	c.8467C>T	p.P2823S	Substitution - Missense	Kidney
COSM1215206	c.8755G>A	p.G2919R	Substitution - Missense	Large_intestine
COSM268501	c.6522C>T	p.F2174F	Substitution - coding silent	Large_intestine
COSM3398773	c.8113C>T	p.R2705C	Substitution - Missense	Central_nervous_system
COSM168089	c.6251delC	p.P2084fs*30	Deletion - Frameshift	Large_intestine
COSM4147112	c.1335G>A	p.E445E	Substitution - coding silent	Thyroid
COSM221058	c.7501C>T	p.R2501*	Substitution - Nonsense	Oesophagus
COSM220674	c.7678C>T	p.R2560*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM3986969	c.8168T>G	p.L2723R	Substitution - Missense	Kidney
COSM3780993	c.4510-2A>G	p.?	Unknown	Pancreas
COSM5636825	c.13410C>T	p.V4470V	Substitution - coding silent	Oesophagus
COSM221079	c.3316_3317delAT	p.M1106fs*52	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM88089	c.2573C>T	p.P858L	Substitution - Missense	Central_nervous_system
COSM3461623	c.1611C>T	p.S537S	Substitution - coding silent	Skin
COSM4170401	c.12605_12606delTG	p.V4202fs*14	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4431598	c.15301G>A	p.E5101K	Substitution - Missense	Bone
COSM5031479	c.1552T>G	p.S518A	Substitution - Missense	Pancreas
COSM5521216	c.10816C>G	p.L3606V	Substitution - Missense	Biliary_tract
COSM1362016	c.7704A>T	p.P2568P	Substitution - coding silent	Large_intestine
COSM5599939	c.1855C>T	p.P619S	Substitution - Missense	Skin
COSM298006	c.10011G>A	p.Q3337Q	Substitution - coding silent	Large_intestine
COSM4042401	c.2876C>T	p.P959L	Substitution - Missense	Prostate
COSM5027588	c.12329delC	p.P4110fs*4	Deletion - Frameshift	Breast
COSM1606198	c.15046G>A	p.E5016K	Substitution - Missense	Liver
COSM3376274	c.10058A>G	p.Q3353R	Substitution - Missense	Pancreas
COSM221042	c.14960A>T	p.D4987V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3772639	c.3262C>T	p.Q1088*	Substitution - Nonsense	Pancreas
COSM940006	c.11349T>C	p.T3783T	Substitution - coding silent	Endometrium
COSM4975665	c.10156C>T	p.R3386C	Substitution - Missense	Skin
COSM1362059	c.1793G>A	p.R598H	Substitution - Missense	Upper_aerodigestive_tract
COSM4384720	c.9056C>T	p.P3019L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4409545	c.14460C>T	p.T4820T	Substitution - coding silent	Oesophagus
COSM4501032	c.4981C>T	p.P1661S	Substitution - Missense	Skin
COSM4951435	c.4421G>T	p.S1474I	Substitution - Missense	Liver
COSM3954832	c.12913C>T	p.L4305F	Substitution - Missense	Lung
COSM940098	c.477T>C	p.G159G	Substitution - coding silent	Endometrium
COSM3688226	c.15005C>T	p.A5002V	Substitution - Missense	Large_intestine
COSM940080	c.2918C>T	p.T973M	Substitution - Missense	Urinary_tract
COSM4605656	c.5092G>T	p.E1698*	Substitution - Nonsense	Upper_aerodigestive_tract
COSM5701753	c.8949_8950GG>TT	p.L2983_E2984>F*	Complex - compound substitution	Soft_tissue
COSM6014930	c.2636C>T	p.P879L	Substitution - Missense	Skin
COSM220674	c.7678C>T	p.R2560*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM468432	c.14067C>G	p.A4689A	Substitution - coding silent	Kidney
COSM2007296	c.2636C>A	p.P879H	Substitution - Missense	Large_intestine
COSM5004293	c.856_857insCGGA	p.K287fs*2	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM144613	c.13324G>T	p.E4442*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5547781	c.5110_5122del13	p.T1704fs*69	Deletion - Frameshift	Prostate
COSM693716	c.14294G>T	p.C4765F	Substitution - Missense	Lung
COSM1190863	c.10920_10925delGCAACT	p.Q3640_L3642>H	Complex - deletion inframe	Lung
COSM5752390	c.13550_13551delCA	p.T4517fs*29	Deletion - Frameshift	Breast
COSM3461555	c.7763C>T	p.S2588F	Substitution - Missense	Skin
COSM215536	c.11733_11734insGGGCA	p.L3915fs*32	Insertion - Frameshift	Central_nervous_system
COSM3416894	c.15551G>A	p.R5184Q	Substitution - Missense	Large_intestine
COSM4951435	c.4421G>T	p.S1474I	Substitution - Missense	Liver
COSM5047929	c.11128C>T	p.Q3710*	Substitution - Nonsense	Oesophagus
COSM4208069	c.7623G>A	p.Q2541Q	Substitution - coding silent	Large_intestine
COSM4511716	c.7978C>T	p.P2660S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4507077	c.6562C>T	p.Q2188*	Substitution - Nonsense	Skin
COSM4384692	c.15140A>G	p.Y5047C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685052	c.6346C>T	p.R2116W	Substitution - Missense	Lung
COSM5945265	c.3516T>A	p.C1172*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1628643	c.5299+3A>T	p.?	Unknown	Liver
COSM5739639	c.7984C>T	p.Q2662*	Substitution - Nonsense	Small_intestine
COSM4603317	c.10364_10365insTGCAGC	p.Q3455>HAA	Complex - insertion inframe	Upper_aerodigestive_tract
COSM5599941	c.7252G>T	p.E2418*	Substitution - Nonsense	Skin
COSM5558803	c.4701C>T	p.L1567L	Substitution - coding silent	Prostate
COSM459486	c.14447G>A	p.R4816Q	Substitution - Missense	Cervix
COSM693708	c.12834C>T	p.S4278S	Substitution - coding silent	Lung
COSM940096	c.765C>T	p.C255C	Substitution - coding silent	Endometrium
COSM4384708	c.11549G>A	p.G3850D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4504184	c.5775C>T	p.T1925T	Substitution - coding silent	Large_intestine
COSM3384411	c.11186C>A	p.P3729H	Substitution - Missense	Pancreas
COSM4170389	c.15404G>A	p.R5135H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4473081	c.1826C>T	p.S609F	Substitution - Missense	Skin
COSM1717662	c.7964C>T	p.A2655V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM693704	c.11810A>G	p.K3937R	Substitution - Missense	Lung
COSM5375275	c.11893C>T	p.Q3965*	Substitution - Nonsense	Skin
COSM6000242	c.2542G>T	p.D848Y	Substitution - Missense	Prostate
COSM2006966	c.8620G>A	p.A2874T	Substitution - Missense	Large_intestine
COSM5697454	c.10141C>T	p.Q3381*	Substitution - Nonsense	Soft_tissue
COSM4702442	c.2751A>G	p.A917A	Substitution - coding silent	Large_intestine
COSM4830311	c.12619G>A	p.G4207R	Substitution - Missense	Cervix
COSM30358	c.7495G>A	p.D2499N	Substitution - Missense	Kidney
COSM3954836	c.12907T>A	p.F4303I	Substitution - Missense	Lung
COSM4042415	c.1169T>C	p.V390A	Substitution - Missense	Stomach
COSM4170395	c.14465G>T	p.C4822F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4468779	c.14810C>T	p.P4937L	Substitution - Missense	Skin
COSM221116	c.13189+1G>A	p.?	Unknown	Stomach
COSM1362047	c.4167C>T	p.C1389C	Substitution - coding silent	Large_intestine
COSM3722551	c.6669G>T	p.G2223G	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM4471881	c.1746C>T	p.S582S	Substitution - coding silent	Skin
COSM4876198	c.6436C>T	p.Q2146*	Substitution - Nonsense	Prostate
COSM5368983	c.9391C>T	p.Q3131*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5632507	c.8155G>T	p.E2719*	Substitution - Nonsense	Oesophagus
COSM5787774	c.15051T>C	p.Y5017Y	Substitution - coding silent	Breast
COSM468456	c.2805C>T	p.I935I	Substitution - coding silent	Kidney
COSM4995140	c.1898C>T	p.S633L	Substitution - Missense	Upper_aerodigestive_tract
COSM3461579	c.5627C>T	p.P1876L	Substitution - Missense	Skin
COSM5575924	c.4903C>T	p.Q1635*	Substitution - Nonsense	Stomach
COSM4170413	c.11209C>T	p.Q3737*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM3710908	c.9100C>T	p.P3034S	Substitution - Missense	Upper_aerodigestive_tract
COSM3954826	c.14517C>G	p.C4839W	Substitution - Missense	Lung
COSM4042359	c.10201C>T	p.P3401S	Substitution - Missense	Stomach
COSM4384744	c.3185C>T	p.S1062F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM221130	c.682C>G	p.R228G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3710910	c.7417C>T	p.Q2473*	Substitution - Nonsense	Upper_aerodigestive_tract
COSM940004	c.11855T>C	p.L3952P	Substitution - Missense	Endometrium
COSM4604252	c.1306G>T	p.E436*	Substitution - Nonsense	Upper_aerodigestive_tract
COSM5361536	c.3548G>A	p.C1183Y	Substitution - Missense	Large_intestine
COSM4595500	c.13631C>T	p.S4544F	Substitution - Missense	Upper_aerodigestive_tract
COSM120949	c.15490G>A	p.E5164K	Substitution - Missense	Upper_aerodigestive_tract
COSM220685	c.7249C>T	p.R2417*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM693712	c.13900C>T	p.R4634*	Substitution - Nonsense	Soft_tissue
COSM1717666	c.8366C>T	p.T2789I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4042324	c.15542A>G	p.Y5181C	Substitution - Missense	Stomach
COSM4170427	c.7123C>T	p.R2375*	Substitution - Nonsense	Oesophagus
COSM4384696	c.14252G>A	p.R4751Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5547684	c.11218delT	p.S3740fs*12	Deletion - Frameshift	Prostate
COSM4774716	c.12003A>T	p.T4001T	Substitution - coding silent	Stomach
COSM4170397	c.13380G>A	p.W4460*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM220674	c.7678C>T	p.R2560*	Substitution - Nonsense	Prostate
COSM5232992	c.9397G>T	p.A3133S	Substitution - Missense	Lung
COSM1717602	c.7390C>T	p.R2464*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM2007304	c.2589G>A	p.E863E	Substitution - coding silent	Large_intestine
COSM4170437	c.5785delT	p.Y1929fs*65	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5051638	c.4546C>T	p.R1516C	Substitution - Missense	Stomach
COSM4614704	c.6839delC	p.P2280fs*33	Deletion - Frameshift	Large_intestine
COSM2007278	c.2935C>T	p.R979*	Substitution - Nonsense	Oesophagus
COSM3398777	c.389G>A	p.G130E	Substitution - Missense	Central_nervous_system
COSM3871734	c.5447A>G	p.K1816R	Substitution - Missense	Skin
COSM1606202	c.11405A>G	p.D3802G	Substitution - Missense	Liver
COSM3461539	c.11782C>G	p.R3928G	Substitution - Missense	Skin
COSM4150133	c.1444G>T	p.A482S	Substitution - Missense	Ovary
COSM4990246	c.9466A>T	p.K3156*	Substitution - Nonsense	Skin
COSM126804	c.2653G>T	p.E885*	Substitution - Nonsense	Breast
COSM5947664	c.9692delT	p.V3231fs*25	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1606200	c.14407C>T	p.Q4803*	Substitution - Nonsense	Liver
COSM221054	c.13831C>T	p.Q4611*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1717602	c.7390C>T	p.R2464*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM2006857	c.11256G>A	p.T3752T	Substitution - coding silent	Oesophagus
COSM2006930	c.9578_9579insG	p.P3196fs*2	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5594898	c.2948C>T	p.S983F	Substitution - Missense	Skin
COSM5031028	c.?	p.?	Substitution - Nonsense	Central_nervous_system
COSM1562072	c.5587G>A	p.A1863T	Substitution - Missense	Large_intestine
COSM4384692	c.15140A>G	p.Y5047C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3769686	c.7494C>T	p.S2498S	Substitution - coding silent	Soft_tissue
COSM144617	c.1940_1940delC	p.P647fs*38	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4426208	c.6298C>T	p.R2100C	Substitution - Missense	Oesophagus
COSM3722549	c.3022G>T	p.G1008*	Substitution - Nonsense	Oesophagus
COSM3968245	c.9116C>T	p.S3039F	Substitution - Missense	Central_nervous_system
COSM3998825	c.902T>G	p.F301C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5970727	c.6133C>T	p.H2045Y	Substitution - Missense	Upper_aerodigestive_tract
COSM220678	c.14830C>T	p.R4944C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM30427	c.9042C>T	p.S3014S	Substitution - coding silent	Lung
COSM147495	c.11700A>G	p.P3900P	Substitution - coding silent	Soft_tissue
COSM221126	c.9022C>T	p.Q3008*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4646440	c.9027G>A	p.Q3009Q	Substitution - coding silent	Large_intestine
COSM5051640	c.3395A>G	p.H1132R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4384728	c.8473G>A	p.G2825S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM88086	c.15485G>A	p.R5162Q	Substitution - Missense	Central_nervous_system
COSM3722551	c.6669G>T	p.G2223G	Substitution - coding silent	Soft_tissue
COSM5046897	c.9495C>G	p.I3165M	Substitution - Missense	Oesophagus
COSM5947354	c.9558_9559ins10	p.L3187fs*14	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5985640	c.?	p.V2522I	Substitution - Missense	Salivary_gland
COSM4384690	c.15202T>C	p.C5068R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4606212	c.15528+5G>A	p.?	Unknown	Upper_aerodigestive_tract
COSM2006563	c.15659_15660delAA	p.K5220fs*21	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4410278	c.9765G>A	p.L3255L	Substitution - coding silent	Bone
COSM468446	c.4909C>G	p.L1637V	Substitution - Missense	Kidney
COSM693666	c.3341G>T	p.G1114V	Substitution - Missense	Lung
COSM2006617	c.14831G>A	p.R4944H	Substitution - Missense	Biliary_tract
COSM3398769	c.14400T>A	p.Y4800*	Substitution - Nonsense	Central_nervous_system
COSM3753293	c.12879C>T	p.P4293P	Substitution - coding silent	Large_intestine
COSM5753945	c.14348A>G	p.D4783G	Substitution - Missense	Large_intestine
COSM1215190	c.15605A>G	p.Y5202C	Substitution - Missense	Large_intestine
COSM4170397	c.13380G>A	p.W4460*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM2006631	c.14735_14736insG	p.L4913fs*16	Insertion - Frameshift	Large_intestine
COSM4168679	c.14812G>A	p.V4938M	Substitution - Missense	Peritoneum
COSM5675975	c.4570delG	p.V1524fs*8	Deletion - Frameshift	Soft_tissue
COSM5549996	c.13774G>A	p.A4592T	Substitution - Missense	Prostate
COSM4754807	c.11656C>A	p.Q3886K	Substitution - Missense	Stomach
COSM5949672	c.10880T>A	p.L3627*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM221158	c.13075_13076insC	p.P4361fs*16	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM221074	c.4257T>A	p.Y1419*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5771128	c.11926C>A	p.P3976T	Substitution - Missense	Breast
COSM4384738	c.4552G>A	p.A1518T	Substitution - Missense	Cervix
COSM693710	c.13659C>T	p.P4553P	Substitution - coding silent	Lung
COSM940056	c.5404C>A	p.R1802S	Substitution - Missense	Endometrium
COSM5361805	c.12493G>A	p.A4165T	Substitution - Missense	Large_intestine
COSM5606738	c.5238C>A	p.S1746S	Substitution - coding silent	Skin
COSM3398767	c.15333G>T	p.V5111V	Substitution - coding silent	Central_nervous_system
COSM4432034	c.2425G>T	p.E809*	Substitution - Nonsense	Oesophagus
COSM3398775	c.7756G>C	p.G2586R	Substitution - Missense	Central_nervous_system
COSM4042405	c.2213C>T	p.P738L	Substitution - Missense	Stomach
COSM5909265	c.14387C>T	p.S4796F	Substitution - Missense	Skin
COSM1361975	c.12448C>T	p.R4150W	Substitution - Missense	Large_intestine
COSM3986971	c.7257G>C	p.L2419L	Substitution - coding silent	Kidney
COSM2006740	c.13126G>T	p.E4376*	Substitution - Nonsense	Lung
COSM221106	c.7557-1G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM221083	c.10437_10440delACAG	p.Q3480fs*79	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4801580	c.9629A>T	p.Q3210L	Substitution - Missense	Liver
COSM3704185	c.3332G>A	p.G1111D	Substitution - Missense	Liver
COSM468463	c.786C>T	p.A262A	Substitution - coding silent	Kidney
COSM939996	c.12898A>G	p.T4300A	Substitution - Missense	Endometrium
COSM121075	c.15720T>A	p.Y5240*	Substitution - Nonsense	Upper_aerodigestive_tract
COSM221140	c.15635_15636delTG	p.V5212fs*7	Deletion - Frameshift	Breast
COSM693660	c.3139G>T	p.G1047*	Substitution - Nonsense	Lung
COSM3356314	c.15068T>A	p.L5023H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5444863	c.11458C>T	p.Q3820*	Substitution - Nonsense	Oesophagus
COSM30490	c.8545A>T	p.K2849*	Substitution - Nonsense	Kidney
COSM3384409	c.14941G>T	p.E4981*	Substitution - Nonsense	Pancreas
COSM147497	c.2015-8C>T	p.?	Unknown	Soft_tissue
COSM5599937	c.9532C>T	p.P3178S	Substitution - Missense	Skin
COSM321700	c.13873A>G	p.T4625A	Substitution - Missense	Lung
COSM4622639	c.6100C>A	p.L2034M	Substitution - Missense	Large_intestine
COSM221164	c.2824delG	p.D942fs*115	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3792639	c.6003C>A	p.P2001P	Substitution - coding silent	Urinary_tract
COSM306873	c.10846_10847CA>CCA	p.Q3616fs	Complex	Central_nervous_system
COSM5490655	c.12700G>T	p.G4234C	Substitution - Missense	Biliary_tract
COSM4504015	c.5731C>T	p.P1911S	Substitution - Missense	Skin
COSM240690	c.4285C>T	p.R1429*	Substitution - Nonsense	Prostate
COSM5599941	c.7252G>T	p.E2418*	Substitution - Nonsense	Skin
COSM940082	c.2794G>A	p.V932I	Substitution - Missense	Endometrium
COSM3954820	c.15344C>G	p.S5115*	Substitution - Nonsense	Lung
COSM144889	c.954+2T>G	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4988063	c.6895G>A	p.G2299S	Substitution - Missense	Soft_tissue
COSM5599941	c.7252G>T	p.E2418*	Substitution - Nonsense	Skin
COSM693678	c.4232G>C	p.S1411T	Substitution - Missense	Lung
COSM5599937	c.9532C>T	p.P3178S	Substitution - Missense	Skin
COSM87902	c.4810_4813delGACT	p.D1604fs*1	Deletion - Frameshift	Central_nervous_system
COSM266935	c.5695G>A	p.A1899T	Substitution - Missense	Large_intestine
COSM693714	c.14098G>T	p.E4700*	Substitution - Nonsense	Lung
COSM4042385	c.5943G>A	p.S1981S	Substitution - coding silent	Stomach
COSM4170447	c.3470G>T	p.C1157F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM693656	c.2781C>G	p.I927M	Substitution - Missense	Lung
COSM1188484	c.2043G>T	p.L681F	Substitution - Missense	Lung
COSM4990234	c.15116C>T	p.P5039L	Substitution - Missense	Skin
COSM4954551	c.13336G>T	p.G4446W	Substitution - Missense	Liver
COSM5361561	c.7029G>A	p.P2343P	Substitution - coding silent	Large_intestine
COSM120949	c.15490G>A	p.E5164K	Substitution - Missense	Endometrium
COSM940018	c.9999G>A	p.Q3333Q	Substitution - coding silent	Endometrium
COSM1135384	c.785_786CC>AT	p.A262D	Substitution - Missense	Kidney
COSM1717602	c.7390C>T	p.R2464*	Substitution - Nonsense	Skin
COSM4428500	c.1729G>T	p.E577*	Substitution - Nonsense	Oesophagus
COSM221050	c.7276C>T	p.Q2426*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4775065	c.4432G>T	p.G1478W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3782730	c.6779C>T	p.T2260I	Substitution - Missense	Prostate
COSM5986655	c.14812delG	p.V4938fs*35	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3871732	c.6753C>T	p.S2251S	Substitution - coding silent	Skin
COSM4606300	c.13189+4A>G	p.?	Unknown	Upper_aerodigestive_tract
COSM4042391	c.5405G>A	p.R1802H	Substitution - Missense	Stomach
COSM215538	c.6538_6539insA	p.Y2180fs*1	Insertion - Frameshift	Central_nervous_system
COSM5730762	c.911A>T	p.K304I	Substitution - Missense	Breast
COSM4384756	c.2015-7A>G	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4702418	c.12749C>T	p.P4250L	Substitution - Missense	Large_intestine
COSM5970721	c.14248T>G	p.L4750V	Substitution - Missense	Upper_aerodigestive_tract
COSM939982	c.14650C>T	p.R4884W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM147495	c.11700A>G	p.P3900P	Substitution - coding silent	Soft_tissue
COSM1362000	c.8920G>A	p.E2974K	Substitution - Missense	Large_intestine
COSM4384714	c.10223C>T	p.A3408V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3356325	c.5373+1G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5881463	c.?	p.R2817L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM415824	c.6328C>T	p.Q2110*	Substitution - Nonsense	Cervix
COSM693649	c.2002G>T	p.E668*	Substitution - Nonsense	Lung
COSM1362059	c.1793G>A	p.R598H	Substitution - Missense	Large_intestine
COSM4655605	c.4078G>A	p.D1360N	Substitution - Missense	Large_intestine
COSM5017260	c.3248A>G	p.D1083G	Substitution - Missense	Kidney
COSM147495	c.11700A>G	p.P3900P	Substitution - coding silent	Soft_tissue
COSM4042375	c.6410C>A	p.P2137H	Substitution - Missense	Stomach
COSM5730500	c.10627C>T	p.Q3543*	Substitution - Nonsense	Breast
COSM5642348	c.14597A>G	p.H4866R	Substitution - Missense	Oesophagus
COSM5553477	c.13138G>T	p.E4380*	Substitution - Nonsense	Prostate
COSM1362057	c.2885delG	p.G962fs*95	Deletion - Frameshift	Large_intestine
COSM5046912	c.4438G>T	p.E1480*	Substitution - Nonsense	Oesophagus
COSM940034	c.8119A>T	p.N2707Y	Substitution - Missense	Endometrium
COSM4826566	c.9928C>T	p.Q3310*	Substitution - Nonsense	Cervix
COSM5000376	c.4258_4259insC	p.R1420fs*39	Insertion - Frameshift	Pancreas
COSM4702444	c.2331C>T	p.S777S	Substitution - coding silent	Large_intestine
COSM2007148	c.4982C>A	p.P1661H	Substitution - Missense	Large_intestine
COSM940014	c.10309C>T	p.R3437*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM3710912	c.6745G>T	p.V2249F	Substitution - Missense	Upper_aerodigestive_tract
COSM3954844	c.2359A>T	p.K787*	Substitution - Nonsense	Lung
COSM4504684	c.5912C>T	p.P1971L	Substitution - Missense	Skin
COSM4384718	c.9968C>A	p.A3323E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5753947	c.14267C>T	p.P4756L	Substitution - Missense	Large_intestine
COSM4170437	c.5785delT	p.Y1929fs*65	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1362002	c.8892C>T	p.D2964D	Substitution - coding silent	Large_intestine
COSM147497	c.2015-8C>T	p.?	Unknown	Soft_tissue
COSM30425	c.12246G>A	p.E4082E	Substitution - coding silent	Skin
COSM5024902	c.5114_5130del17	p.G1705fs*12	Deletion - Frameshift	Breast
COSM5048706	c.14458delA	p.T4820fs*57	Deletion - Frameshift	Oesophagus
COSM4774855	c.14317A>C	p.T4773P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4042399	c.3049C>T	p.R1017W	Substitution - Missense	Small_intestine
COSM1299425	c.14501G>A	p.C4834Y	Substitution - Missense	Urinary_tract
COSM5985859	c.14725C>A	p.R4909S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3871736	c.2172C>T	p.P724P	Substitution - coding silent	Skin
COSM940050	c.5798C>A	p.T1933K	Substitution - Missense	Endometrium
COSM4952670	c.2270A>G	p.H757R	Substitution - Missense	Liver
COSM4170443	c.3616C>T	p.Q1206*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM221008	c.11418G>T	p.L3806L	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM4956709	c.14589T>G	p.C4863W	Substitution - Missense	Liver
COSM4849851	c.3208G>A	p.D1070N	Substitution - Missense	Cervix
COSM4789921	c.4450C>A	p.Q1484K	Substitution - Missense	Liver
COSM1731942	c.10413_10414insGCA	p.Q3471_Q3472insA	Insertion - In frame	Haematopoietic_and_lymphoid_tissue
COSM30365	c.9236T>C	p.M3079T	Substitution - Missense	Kidney
COSM268501	c.6522C>T	p.F2174F	Substitution - coding silent	Skin
COSM4567986	c.8741_8742CC>TT	p.S2914F	Substitution - Missense	Skin
COSM4970465	c.5694C>T	p.P1898P	Substitution - coding silent	Central_nervous_system
COSM3812153	c.14716C>A	p.H4906N	Substitution - Missense	Breast
COSM302646	c.15208C>T	p.R5070*	Substitution - Nonsense	Central_nervous_system
COSM431195	c.15186G>T	p.M5062I	Substitution - Missense	Breast
COSM940010	c.10504A>G	p.K3502E	Substitution - Missense	Endometrium
COSM4513879	c.8738C>T	p.A2913V	Substitution - Missense	Skin
COSM88087	c.11902C>T	p.R3968C	Substitution - Missense	Central_nervous_system
COSM4384694	c.14552C>T	p.A4851V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM6005462	c.?	p.F2469fs*18	Frameshift	Breast
COSM5029493	c.177-1G>A	p.?	Unknown	Bone
COSM3722551	c.6669G>T	p.G2223G	Substitution - coding silent	Upper_aerodigestive_tract
COSM4150129	c.9930+2T>A	p.?	Unknown	Ovary
COSM4432704	c.511-1G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5624233	c.3315C>T	p.D1105D	Substitution - coding silent	Oesophagus
COSM6014934	c.708G>C	p.G236G	Substitution - coding silent	Skin
COSM168089	c.6251delC	p.P2084fs*30	Deletion - Frameshift	Skin
COSM4787953	c.4818C>A	p.D1606E	Substitution - Missense	Liver
COSM221066	c.15484C>T	p.R5162W	Substitution - Missense	Oesophagus
COSM124454	c.604G>A	p.G202S	Substitution - Missense	Upper_aerodigestive_tract
COSM4406540	c.4065T>G	p.G1355G	Substitution - coding silent	Pancreas
COSM5024900	c.12917_12929del13	p.F4306fs*12	Deletion - Frameshift	Breast
COSM1606204	c.9538_9539insA	p.M3180fs*18	Insertion - Frameshift	Liver
COSM2006970	c.8579C>T	p.S2860F	Substitution - Missense	Oesophagus
COSM4384750	c.2690C>T	p.P897L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144608	c.4897C>T	p.R1633*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4990244	c.12253C>T	p.P4085S	Substitution - Missense	Skin
COSM5946083	c.4067_4068insA	p.E1357fs*1	Insertion - Frameshift	Urinary_tract
COSM5916243	c.14446C>T	p.R4816*	Substitution - Nonsense	Skin
COSM3710906	c.14841G>C	p.W4947C	Substitution - Missense	Upper_aerodigestive_tract
COSM144612	c.11152C>T	p.Q3718*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM88090	c.15691C>T	p.R5231*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM3461523	c.13000C>T	p.P4334S	Substitution - Missense	Skin
COSM2006773	c.12592C>T	p.R4198W	Substitution - Missense	Upper_aerodigestive_tract
COSM4042379	c.6299G>A	p.R2100H	Substitution - Missense	Stomach
COSM4605692	c.5431G>C	p.E1811Q	Substitution - Missense	Upper_aerodigestive_tract
COSM3968237	c.14993T>C	p.I4998T	Substitution - Missense	Central_nervous_system
COSM3998823	c.907C>T	p.L303L	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM5019733	c.9861A>G	p.P3287P	Substitution - coding silent	Soft_tissue
COSM4170391	c.14873A>G	p.Y4958C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4533472	c.1986G>T	p.L662L	Substitution - coding silent	Skin
COSM4982180	c.4684G>T	p.E1562*	Substitution - Nonsense	Oesophagus
COSM88088	c.14732G>A	p.G4911E	Substitution - Missense	Central_nervous_system
COSM1362049	c.4122C>T	p.T1374T	Substitution - coding silent	Large_intestine
COSM4170411	c.11327G>A	p.G3776E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM431203	c.10026G>A	p.Q3342Q	Substitution - coding silent	Soft_tissue
COSM87929	c.2800_2801insG	p.E934fs*4	Insertion - Frameshift	Central_nervous_system
COSM168089	c.6251delC	p.P2084fs*30	Deletion - Frameshift	Large_intestine
COSM4990232	c.15589G>A	p.G5197S	Substitution - Missense	Skin
COSM5361536	c.3548G>A	p.C1183Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM940040	c.7000A>G	p.S2334G	Substitution - Missense	Endometrium
COSM1215194	c.14699A>G	p.Q4900R	Substitution - Missense	Large_intestine
COSM1606198	c.15046G>A	p.E5016K	Substitution - Missense	Liver
COSM221136	c.3600-1G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM221048	c.5710C>T	p.Q1904*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM30423	c.15355C>T	p.R5119W	Substitution - Missense	Pancreas
COSM221154	c.15224_15225insG	p.I5075fs*18	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM249288	c.15082G>T	p.V5028L	Substitution - Missense	Kidney
COSM5025081	c.15711+7G>T	p.?	Unknown	Breast
COSM693708	c.12834C>T	p.S4278S	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM4754815	c.6103G>T	p.G2035C	Substitution - Missense	Stomach
COSM4438259	c.6820delG	p.E2274fs*4	Deletion - Frameshift	Oesophagus
COSM1196387	c.9584G>T	p.G3195V	Substitution - Missense	Lung
COSM221081	c.7917_7920delAAGT	p.S2640fs*32	Deletion - Frameshift	Prostate
COSM228578	c.2510C>T	p.P837L	Substitution - Missense	Skin
COSM5642059	c.4312A>T	p.K1438*	Substitution - Nonsense	Oesophagus
COSM5638139	c.9079_9080delTT	p.L3027fs*3	Deletion - Frameshift	Oesophagus
COSM5349810	c.6125C>T	p.S2042L	Substitution - Missense	Lung
COSM5597095	c.13083C>T	p.P4361P	Substitution - coding silent	Skin
COSM5576073	c.14902C>T	p.R4968W	Substitution - Missense	Stomach
COSM1215192	c.3453T>G	p.C1151W	Substitution - Missense	Large_intestine
COSM347005	c.6186C>T	p.T2062T	Substitution - coding silent	Lung
COSM4990254	c.6624C>A	p.A2208A	Substitution - coding silent	Skin
COSM4603826	c.5392_5393delCG	p.R1798fs*13	Deletion - Frameshift	Upper_aerodigestive_tract
COSM940090	c.1703A>G	p.E568G	Substitution - Missense	Endometrium
COSM1742336	c.14332C>T	p.R4778C	Substitution - Missense	Large_intestine
COSM253765	c.10969C>T	p.Q3657*	Substitution - Nonsense	Urinary_tract
COSM468452	c.3243A>G	p.E1081E	Substitution - coding silent	Kidney
COSM4441955	c.10832T>C	p.M3611T	Substitution - Missense	Large_intestine
COSM30491	c.14778G>A	p.M4926I	Substitution - Missense	Kidney
COSM4849824	c.3657G>A	p.Q1219Q	Substitution - coding silent	Cervix
COSM5550924	c.3750C>T	p.C1250C	Substitution - coding silent	Prostate
COSM2006631	c.14735_14736insG	p.L4913fs*16	Insertion - Frameshift	Large_intestine
COSM321702	c.7031C>A	p.S2344*	Substitution - Nonsense	Lung
COSM4603736	c.13439_13441+11delCAGGTATGTGCTAC	p.?	Unknown	Upper_aerodigestive_tract
COSM693662	c.3311A>G	p.Q1104R	Substitution - Missense	Lung
COSM298006	c.10011G>A	p.Q3337Q	Substitution - coding silent	Large_intestine
COSM1739862	c.15004G>C	p.A5002P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM693686	c.5884G>A	p.G1962S	Substitution - Missense	Lung
COSM4470261	c.15697C>T	p.P5233S	Substitution - Missense	Skin
COSM4990264	c.4973-1G>A	p.?	Unknown	Skin
COSM3812159	c.4732G>A	p.D1578N	Substitution - Missense	Breast
COSM220680	c.12796C>T	p.R4266*	Substitution - Nonsense	Urinary_tract
COSM2007092	c.6308C>T	p.S2103F	Substitution - Missense	Prostate
COSM3416894	c.15551G>A	p.R5184Q	Substitution - Missense	Large_intestine
COSM3710908	c.9100C>T	p.P3034S	Substitution - Missense	Upper_aerodigestive_tract
COSM3772637	c.3445T>A	p.W1149R	Substitution - Missense	Pancreas
COSM4042336	c.14666G>A	p.R4889Q	Substitution - Missense	Stomach
COSM4567394	c.6119_6120CC>TT	p.P2040L	Substitution - Missense	Skin
COSM5820660	c.15330T>G	p.F5110L	Substitution - Missense	Liver
COSM4575451	c.6687C>T	p.P2229P	Substitution - coding silent	Bone
COSM147497	c.2015-8C>T	p.?	Unknown	Soft_tissue
COSM5929420	c.12391C>T	p.Q4131*	Substitution - Nonsense	Skin
COSM4170458	c.1038T>A	p.C346*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4170399	c.12936_12954del19	p.C4313fs*3	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5027592	c.1066C>T	p.Q356*	Substitution - Nonsense	Breast
COSM144611	c.11101C>T	p.Q3701*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM3722551	c.6669G>T	p.G2223G	Substitution - coding silent	Soft_tissue
COSM3986973	c.6508G>A	p.V2170I	Substitution - Missense	Stomach
COSM4516800	c.232_233GG>AA	p.G78K	Substitution - Missense	Skin
COSM4990236	c.15016A>G	p.K5006E	Substitution - Missense	Skin
COSM3753293	c.12879C>T	p.P4293P	Substitution - coding silent	Soft_tissue
COSM4385668	c.10412_10413insGCA	p.Q3475_H3476insQ	Insertion - In frame	Haematopoietic_and_lymphoid_tissue
COSM147497	c.2015-8C>T	p.?	Unknown	Soft_tissue
COSM4458218	c.9961C>G	p.L3321V	Substitution - Missense	Skin
COSM5046101	c.4675delA	p.I1559fs*23	Deletion - Frameshift	Oesophagus
COSM4208021	c.14651G>A	p.R4884Q	Substitution - Missense	Upper_aerodigestive_tract
COSM220685	c.7249C>T	p.R2417*	Substitution - Nonsense	Central_nervous_system
COSM940094	c.784G>A	p.A262T	Substitution - Missense	Endometrium
COSM2006819	c.11872C>G	p.Q3958E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3355856	c.3608C>G	p.S1203C	Substitution - Missense	Breast
COSM4389210	c.15773G>A	p.G5258E	Substitution - Missense	Pancreas
COSM5546595	c.11728C>T	p.Q3910*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5732356	c.15529-2A>G	p.?	Unknown	Pancreas
COSM5576024	c.12101C>A	p.P4034H	Substitution - Missense	Stomach
COSM306873	c.10846_10847CA>CCA	p.Q3616fs	Complex	Central_nervous_system
COSM2006583	c.15397C>T	p.R5133C	Substitution - Missense	Skin
COSM162500	c.15242G>T	p.R5081L	Substitution - Missense	Large_intestine
COSM1361971	c.12641G>A	p.R4214Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3722551	c.6669G>T	p.G2223G	Substitution - coding silent	Soft_tissue
COSM1362053	c.3576delC	p.K1193fs*40	Deletion - Frameshift	Large_intestine
COSM1316905	c.15422T>A	p.L5141H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5986659	c.3838_3839delTG	p.V1281fs*48	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM144612	c.11152C>T	p.Q3718*	Substitution - Nonsense	Oesophagus
COSM2006563	c.15659_15660delAA	p.K5220fs*21	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4042369	c.7903C>T	p.R2635C	Substitution - Missense	Stomach
COSM693639	c.400+1G>A	p.?	Unknown	Liver
COSM1735694	c.?	p.?	Substitution - Missense	Central_nervous_system
COSM255297	c.1510_1511insT	p.S504fs*5	Insertion - Frameshift	Central_nervous_system
COSM5440853	c.3472G>T	p.E1158*	Substitution - Nonsense	Oesophagus
COSM4498909	c.4495C>T	p.P1499S	Substitution - Missense	Skin
COSM4990258	c.6199_6200delCA	p.Q2067fs*39	Deletion - Frameshift	Skin
COSM4990238	c.14802C>T	p.A4934A	Substitution - coding silent	Skin
COSM4468856	c.14860C>T	p.R4954C	Substitution - Missense	Skin
COSM940076	c.3116G>A	p.R1039H	Substitution - Missense	Endometrium
COSM468438	c.12639G>A	p.L4213L	Substitution - coding silent	Kidney
COSM468444	c.4938C>G	p.G1646G	Substitution - coding silent	Kidney
COSM1257778	c.12754C>T	p.P4252S	Substitution - Missense	Oesophagus
COSM3733483	c.15379_15381delAAC	p.N5128delN	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM2006756	c.12970G>C	p.A4324P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3461573	c.6119C>T	p.P2040L	Substitution - Missense	Skin
COSM4170427	c.7123C>T	p.R2375*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5946018	c.8392G>A	p.E2798K	Substitution - Missense	Urinary_tract
COSM5429116	c.7487_7515del29	p.F2496fs*69	Deletion - Frameshift	Oesophagus
COSM4384748	c.2882G>A	p.G961E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM221060	c.9151C>T	p.R3051*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1735694	c.?	p.?	Substitution - Missense	Central_nervous_system
COSM255924	c.11771_11772insGGTCAGCT	p.G3925fs*23	Insertion - Frameshift	Central_nervous_system
COSM415824	c.6328C>T	p.Q2110*	Substitution - Nonsense	Urinary_tract
COSM4384742	c.3896_3901delTGGTGC	p.L1299_V1300delLV	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM4598654	c.5810C>T	p.A1937V	Substitution - Missense	Upper_aerodigestive_tract
COSM3461551	c.8096C>T	p.S2699L	Substitution - Missense	Skin
COSM1215202	c.2953C>T	p.R985W	Substitution - Missense	Liver
COSM144595	c.3698C>G	p.T1233S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3359760	c.9796C>T	p.R3266C	Substitution - Missense	Stomach
COSM5782740	c.13387G>A	p.E4463K	Substitution - Missense	Breast
COSM2007102	c.5998G>A	p.E2000K	Substitution - Missense	Large_intestine
COSM348682	c.4225G>A	p.E1409K	Substitution - Missense	Lung
COSM4702416	c.13113C>T	p.G4371G	Substitution - coding silent	Large_intestine
COSM2007000	c.7975C>A	p.L2659I	Substitution - Missense	Upper_aerodigestive_tract
COSM4422245	c.3280T>C	p.F1094L	Substitution - Missense	Ovary
COSM5004465	c.506_507delCA	p.Q170fs*49	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4384688	c.15358C>T	p.R5120W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4603716	c.9298delC	p.Q3100fs*22	Deletion - Frameshift	Upper_aerodigestive_tract
COSM5937561	c.4186C>T	p.P1396S	Substitution - Missense	Skin
COSM4702436	c.4626A>G	p.S1542S	Substitution - coding silent	Large_intestine
COSM1606202	c.11405A>G	p.D3802G	Substitution - Missense	Liver
COSM6000728	c.15640G>A	p.E5214K	Substitution - Missense	Prostate
COSM276076	c.5044T>C	p.F1682L	Substitution - Missense	Large_intestine
COSM693670	c.3404G>T	p.C1135F	Substitution - Missense	Lung
COSM1606212	c.2583G>A	p.Q861Q	Substitution - coding silent	Liver
COSM4807482	c.2013-9C>T	p.?	Unknown	Pancreas
COSM30422	c.11324A>G	p.Q3775R	Substitution - Missense	Lung
COSM5926834	c.40G>A	p.E14K	Substitution - Missense	Skin
COSM940030	c.8215C>T	p.L2739F	Substitution - Missense	Endometrium
COSM168089	c.6251delC	p.P2084fs*30	Deletion - Frameshift	Large_intestine
COSM215535	c.14333G>A	p.R4778H	Substitution - Missense	Central_nervous_system
COSM5375285	c.2471C>T	p.P824L	Substitution - Missense	Skin
COSM1316066	c.7591C>T	p.R2531*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM3461527	c.12870C>T	p.S4290S	Substitution - coding silent	Skin
COSM3722551	c.6669G>T	p.G2223G	Substitution - coding silent	Soft_tissue
COSM5946075	c.?_?del?	p.?fs*?	Deletion - Frameshift	Urinary_tract
COSM4544374	c.2740G>A	p.E914K	Substitution - Missense	Skin
COSM940038	c.7236+1G>A	p.?	Unknown	Endometrium
COSM5139641	c.12168delC	p.S4057fs*57	Deletion - Frameshift	Large_intestine
COSM3384418	c.1954C>T	p.R652C	Substitution - Missense	Large_intestine
COSM144609	c.6418C>T	p.R2140*	Substitution - Nonsense	Urinary_tract
COSM3780993	c.4510-2A>G	p.?	Unknown	Pancreas
COSM4513909	c.8741C>T	p.S2914F	Substitution - Missense	Skin
COSM4775090	c.5819C>T	p.P1940L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5519143	c.12750G>A	p.P4250P	Substitution - coding silent	Biliary_tract
COSM4990275	c.1033C>G	p.L345V	Substitution - Missense	Skin
COSM144608	c.4897C>T	p.R1633*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM431209	c.9576C>T	p.L3192L	Substitution - coding silent	Breast
COSM144607	c.4180G>T	p.E1394*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5546595	c.11728C>T	p.Q3910*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM302646	c.15208C>T	p.R5070*	Substitution - Nonsense	Soft_tissue
COSM1299438	c.5965G>A	p.E1989K	Substitution - Missense	Urinary_tract
COSM1362006	c.8419A>G	p.N2807D	Substitution - Missense	Large_intestine
COSM4385668	c.10412_10413insGCA	p.Q3475_H3476insQ	Insertion - In frame	Haematopoietic_and_lymphoid_tissue
COSM4042330	c.14915T>C	p.V4972A	Substitution - Missense	Stomach
COSM1299444	c.4076C>G	p.S1359*	Substitution - Nonsense	Urinary_tract
COSM3722551	c.6669G>T	p.G2223G	Substitution - coding silent	Soft_tissue
COSM5467973	c.13226C>T	p.A4409V	Substitution - Missense	Large_intestine
COSM4990250	c.8362G>A	p.D2788N	Substitution - Missense	Skin
COSM940062	c.4335G>A	p.A1445A	Substitution - coding silent	Cervix
COSM4606290	c.13190-3C>G	p.?	Unknown	Upper_aerodigestive_tract
COSM4042409	c.1792C>T	p.R598C	Substitution - Missense	Stomach
COSM1606210	c.4067C>A	p.S1356Y	Substitution - Missense	Liver
COSM221046	c.3085C>T	p.Q1029*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM221132	c.15034C>T	p.R5012*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM939976	c.14735G>A	p.G4912D	Substitution - Missense	Endometrium
COSM2006787	c.12325C>T	p.P4109S	Substitution - Missense	Skin
COSM4042381	c.6191G>A	p.R2064Q	Substitution - Missense	Stomach
COSM5027590	c.10846C>T	p.Q3616*	Substitution - Nonsense	Breast
COSM144603	c.14464T>A	p.C4513S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3461593	c.3105C>T	p.F1035F	Substitution - coding silent	Skin
COSM221156	c.9844_9845insA	p.A3282fs*4	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5913424	c.14756G>A	p.G4919E	Substitution - Missense	Skin
COSM5490566	c.15143T>C	p.L5048S	Substitution - Missense	Biliary_tract
COSM4754809	c.11141T>A	p.L3714*	Substitution - Nonsense	Stomach
COSM693639	c.400+1G>A	p.?	Unknown	Lung
COSM5599941	c.7252G>T	p.E2418*	Substitution - Nonsense	Skin
COSM221010	c.7396C>T	p.Q2466*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM3384420	c.1077C>T	p.R359R	Substitution - coding silent	Pancreas
COSM3461541	c.11631C>T	p.S3877S	Substitution - coding silent	Skin
COSM3722551	c.6669G>T	p.G2223G	Substitution - coding silent	Soft_tissue
COSM5948969	c.13458delA	p.K4486fs*41	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM2007377	c.1940delC	p.P647fs*38	Deletion - Frameshift	Prostate
COSM939959	c.15692G>A	p.R5231Q	Substitution - Missense	Endometrium
COSM88091	c.4954C>T	p.Q1652*	Substitution - Nonsense	Central_nervous_system
COSM4150131	c.8456T>G	p.V2819G	Substitution - Missense	Ovary
COSM1606208	c.6944G>C	p.G2315A	Substitution - Missense	Liver
COSM4990262	c.5188C>T	p.Q1730*	Substitution - Nonsense	Skin
COSM221085	c.6783delC	p.S2262fs*11	Deletion - Frameshift	Large_intestine
COSM1196233	c.12172T>A	p.S4058T	Substitution - Missense	Lung
COSM3722551	c.6669G>T	p.G2223G	Substitution - coding silent	Soft_tissue
COSM5714866	c.3933C>G	p.Y1311*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM144608	c.4897C>T	p.R1633*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM939978	c.14703G>A	p.R4901R	Substitution - coding silent	Endometrium
COSM4437283	c.3404G>A	p.C1135Y	Substitution - Missense	Oesophagus
COSM4604041	c.1087G>C	p.E363Q	Substitution - Missense	Upper_aerodigestive_tract
COSM5732586	c.13008C>G	p.Y4336*	Substitution - Nonsense	Pancreas
COSM221102	c.13234_13235insAT	p.T4412fs*116	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM221081	c.7917_7920delAAGT	p.S2640fs*32	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM88087	c.11902C>T	p.R3968C	Substitution - Missense	Central_nervous_system
COSM5599937	c.9532C>T	p.P3178S	Substitution - Missense	Skin
COSM144602	c.14357T>C	p.L4516P	Substitution - Missense	Large_intestine
COSM4830284	c.14107G>C	p.D4703H	Substitution - Missense	Cervix
COSM5800458	c.4660G>A	p.D1554N	Substitution - Missense	Breast
COSM2006573	c.15532C>T	p.R5178*	Substitution - Nonsense	Central_nervous_system
COSM4702412	c.14795C>T	p.A4932V	Substitution - Missense	Large_intestine
COSM4646442	c.9024A>G	p.Q3008Q	Substitution - coding silent	Large_intestine
COSM693639	c.400+1G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM3722551	c.6669G>T	p.G2223G	Substitution - coding silent	Soft_tissue
COSM4042371	c.6894C>T	p.P2298P	Substitution - coding silent	Stomach
COSM144598	c.7094G>A	p.R2365Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM30359	c.7556G>A	p.R2519Q	Substitution - Missense	Oesophagus
COSM3355856	c.3608C>G	p.S1203C	Substitution - Missense	Breast
COSM4042365	c.8485C>T	p.R2829C	Substitution - Missense	Stomach
COSM5051626	c.15143_15146delTATT	p.L5048fs*14	Deletion - Frameshift	Stomach
COSM147495	c.11700A>G	p.P3900P	Substitution - coding silent	Soft_tissue
COSM266939	c.2615C>A	p.A872D	Substitution - Missense	Large_intestine
COSM4208059	c.8479G>T	p.E2827*	Substitution - Nonsense	Oesophagus
COSM4170407	c.11974C>T	p.Q3992*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4605332	c.3344G>A	p.R1115Q	Substitution - Missense	Upper_aerodigestive_tract
COSM5982030	c.?	p.P1940L	Substitution - Missense	Pancreas
COSM3764424	c.14375G>A	p.C4792Y	Substitution - Missense	Central_nervous_system
COSM939980	c.14686G>A	p.A4896T	Substitution - Missense	Liver
COSM940032	c.8176G>A	p.D2726N	Substitution - Missense	Endometrium
COSM3722551	c.6669G>T	p.G2223G	Substitution - coding silent	Soft_tissue
COSM4988061	c.8737G>C	p.A2913P	Substitution - Missense	Soft_tissue
COSM5951116	c.14759A>G	p.Q4920R	Substitution - Missense	Oesophagus
COSM221099	c.8829_8830insT	p.E2944fs*1	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1215200	c.4088G>A	p.G1363D	Substitution - Missense	Large_intestine
COSM5985333	c.11716G>T	p.G3906*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM468450	c.3532A>T	p.S1178C	Substitution - Missense	Kidney
COSM3384416	c.3313-1G>T	p.?	Unknown	Pancreas
COSM4384752	c.2653G>A	p.E885K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144594	c.3344G>T	p.R1115L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM693712	c.13900C>T	p.R4634*	Substitution - Nonsense	Prostate
COSM1299431	c.8733G>C	p.E2911D	Substitution - Missense	Urinary_tract
COSM4387834	c.13956A>C	p.A4652A	Substitution - coding silent	Pancreas
COSM4990240	c.13357C>T	p.P4453S	Substitution - Missense	Skin
COSM3728165	c.9379G>A	p.A3127T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4788496	c.13857C>A	p.P4619P	Substitution - coding silent	Liver
COSM144601	c.13585G>A	p.V4529M	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM221132	c.15034C>T	p.R5012*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM144609	c.6418C>T	p.R2140*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM220680	c.12796C>T	p.R4266*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM939986	c.14507G>A	p.R4836H	Substitution - Missense	Endometrium
COSM4459797	c.10599C>T	p.G3533G	Substitution - coding silent	Skin
COSM5752576	c.4972+1G>T	p.?	Unknown	Breast
COSM5753947	c.14267C>T	p.P4756L	Substitution - Missense	Large_intestine
COSM4170441	c.3814C>T	p.Q1272*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM2007015	c.7588C>T	p.Q2530*	Substitution - Nonsense	Oesophagus
COSM4990248	c.8742C>T	p.S2914S	Substitution - coding silent	Skin
COSM1257785	c.2289C>T	p.N763N	Substitution - coding silent	Oesophagus
COSM30427	c.9042C>T	p.S3014S	Substitution - coding silent	Large_intestine
COSM144612	c.11152C>T	p.Q3718*	Substitution - Nonsense	Cervix
COSM1685354	c.1940_1941insC	p.P648fs*2	Insertion - Frameshift	Large_intestine
COSM4384700	c.13664G>A	p.R4555Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4147092	c.13788C>T	p.G4596G	Substitution - coding silent	Thyroid
COSM168089	c.6251delC	p.P2084fs*30	Deletion - Frameshift	Biliary_tract
COSM693726	c.15711G>C	p.E5237D	Substitution - Missense	Lung
COSM940064	c.4058T>G	p.L1353W	Substitution - Missense	Endometrium
COSM3722551	c.6669G>T	p.G2223G	Substitution - coding silent	Liver
COSM3871739	c.1847C>T	p.P616L	Substitution - Missense	Skin
COSM4513909	c.8741C>T	p.S2914F	Substitution - Missense	Skin
COSM221079	c.3316_3317delAT	p.M1106fs*52	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM147495	c.11700A>G	p.P3900P	Substitution - coding silent	Stomach
COSM221108	c.9930+2T>G	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM6014924	c.12801G>A	p.K4267K	Substitution - coding silent	Skin
COSM5660785	c.13710delG	p.K4571fs*17	Deletion - Frameshift	Soft_tissue
COSM5946075	c.?_?del?	p.?fs*?	Deletion - Frameshift	Urinary_tract
COSM5946012	c.10148G>C	p.G3383A	Substitution - Missense	Urinary_tract
COSM1362055	c.2955G>C	p.R985R	Substitution - coding silent	Large_intestine
COSM4170413	c.11209C>T	p.Q3737*	Substitution - Nonsense	Cervix
COSM221070	c.7994C>G	p.S2665*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4990256	c.6557G>A	p.R2186H	Substitution - Missense	Skin
COSM4170429	c.6738delC	p.N2247fs*26	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5042386	c.12097G>A	p.G4033S	Substitution - Missense	Liver
COSM940070	c.3946G>T	p.G1316C	Substitution - Missense	Endometrium
COSM88090	c.15691C>T	p.R5231*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5005690	c.5846_5847ins12	p.G1949_A1950insVR*	Insertion - In frame	Haematopoietic_and_lymphoid_tissue
COSM1361959	c.15060C>T	p.G5020G	Substitution - coding silent	Large_intestine
COSM2007015	c.7588C>T	p.Q2530*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM2007290	c.2747G>A	p.R916H	Substitution - Missense	Large_intestine
COSM30382	c.8516C>A	p.P2839H	Substitution - Missense	Kidney
COSM1362057	c.2885delG	p.G962fs*95	Deletion - Frameshift	Large_intestine
COSM1361983	c.11933C>T	p.T3978I	Substitution - Missense	Large_intestine
COSM4953371	c.13567G>A	p.A4523T	Substitution - Missense	Liver
COSM459484	c.12040C>T	p.Q4014*	Substitution - Nonsense	Cervix
COSM4170403	c.12565_12587del23	p.G4189fs*20	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5832049	c.11890_11891delAG	p.Q3965fs*98	Deletion - Frameshift	Breast
COSM2007122	c.5544delC	p.A1849fs*25	Deletion - Frameshift	Stomach
COSM290377	c.8455_8456insG	p.V2819fs*9	Insertion - Frameshift	Large_intestine
COSM2007253	c.3349delG	p.A1117fs*27	Deletion - Frameshift	Biliary_tract
COSM4170417	c.7933C>T	p.R2645*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5947667	c.1112+2_1112+7delTAAGTG	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM940068	c.4021C>T	p.R1341W	Substitution - Missense	Large_intestine
COSM4629955	c.7160C>T	p.A2387V	Substitution - Missense	Large_intestine
COSM221058	c.7501C>T	p.R2501*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM2006752	c.12970_12971insG	p.A4324fs*12	Insertion - Frameshift	Large_intestine
COSM3871728	c.11836C>T	p.P3946S	Substitution - Missense	Skin
COSM4771554	c.4421G>A	p.S1474N	Substitution - Missense	Breast
COSM84157	c.2343G>A	p.P781P	Substitution - coding silent	Soft_tissue
COSM4774857	c.7381C>T	p.Q2461*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM221148	c.15639_15640CG>A	p.A5213fs	Complex	Haematopoietic_and_lymphoid_tissue
COSM1128574	c.2680G>T	p.E894*	Substitution - Nonsense	Prostate
COSM4830282	c.14320G>A	p.D4774N	Substitution - Missense	Cervix
COSM5670280	c.10880T>G	p.L3627*	Substitution - Nonsense	Soft_tissue
COSM5730766	c.2596C>T	p.Q866*	Substitution - Nonsense	Breast
COSM4789921	c.4450C>A	p.Q1484K	Substitution - Missense	Liver
COSM168089	c.6251delC	p.P2084fs*30	Deletion - Frameshift	Stomach
COSM5490608	c.9635G>A	p.R3212Q	Substitution - Missense	Biliary_tract
COSM4385524	c.11016_11039del24	p.Q3677_Q3684delQLQQQQQQ	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM144599	c.11039A>G	p.Q3680R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM221052	c.9187C>T	p.Q3063*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM221064	c.14479C>T	p.R4827*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM221076	c.6184delA	p.T2062fs*7	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1168756	c.15117C>T	p.P5039P	Substitution - coding silent	Pancreas
COSM3461529	c.12589C>T	p.L4197F	Substitution - Missense	Skin
COSM5470029	c.10404G>A	p.Q3468Q	Substitution - coding silent	Large_intestine
COSM5606738	c.5238C>A	p.S1746S	Substitution - coding silent	Skin
COSM1361961	c.14735delG	p.G4912fs*61	Deletion - Frameshift	Large_intestine
COSM5731002	c.12731delC	p.A4244fs*5	Deletion - Frameshift	Breast
COSM939965	c.15581C>T	p.T5194M	Substitution - Missense	Endometrium
COSM5051644	c.2620G>T	p.E874*	Substitution - Nonsense	Stomach
COSM4807538	c.14332C>G	p.R4778G	Substitution - Missense	Pancreas
COSM1685111	c.10047C>A	p.L3349L	Substitution - coding silent	Lung
COSM3954830	c.13441+1G>A	p.?	Unknown	Lung
COSM4702449	c.1525T>A	p.S509T	Substitution - Missense	Large_intestine
COSM4976623	c.14648G>A	p.R4883Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM939982	c.14650C>T	p.R4884W	Substitution - Missense	Endometrium
COSM4702434	c.5260G>A	p.A1754T	Substitution - Missense	Large_intestine
COSM88090	c.15691C>T	p.R5231*	Substitution - Nonsense	Central_nervous_system
COSM147497	c.2015-8C>T	p.?	Unknown	Soft_tissue
COSM5669285	c.15524A>T	p.E5175V	Substitution - Missense	Soft_tissue
COSM348680	c.11627G>T	p.G3876V	Substitution - Missense	Lung
COSM1286207	c.10348C>A	p.Q3450K	Substitution - Missense	Autonomic_ganglia
COSM940066	c.4047C>T	p.G1349G	Substitution - coding silent	Endometrium
COSM940060	c.4456C>T	p.R1486W	Substitution - Missense	Endometrium
COSM4042348	c.12640C>T	p.R4214*	Substitution - Nonsense	Stomach
COSM4170409	c.11491C>T	p.Q3831*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5946295	c.4009A>T	p.K1337*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM240678	c.11961delG	p.G3988fs*20	Deletion - Frameshift	Prostate
COSM5095265	c.3484C>A	p.Q1162K	Substitution - Missense	Thymus
COSM1742336	c.14332C>T	p.R4778C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3935971	c.14698C>T	p.Q4900*	Substitution - Nonsense	Oesophagus
COSM4042346	c.12819C>T	p.D4273D	Substitution - coding silent	Stomach
COSM4170415	c.9613G>A	p.A3205T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4850119	c.4060G>A	p.E1354K	Substitution - Missense	Cervix
COSM5653595	c.11410_11411delCA	p.Q3804fs*32	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM213249	c.3524G>C	p.C1175S	Substitution - Missense	Breast
COSM220676	c.11677C>T	p.P3893S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3954842	c.4216G>C	p.E1406Q	Substitution - Missense	Lung
COSM4042401	c.2876C>T	p.P959L	Substitution - Missense	Prostate
COSM4974895	c.11783G>A	p.R3928Q	Substitution - Missense	Oesophagus
COSM5663632	c.9610G>A	p.V3204M	Substitution - Missense	Soft_tissue
COSM5490593	c.14136G>T	p.W4712C	Substitution - Missense	Biliary_tract
COSM3359764	c.3306A>G	p.L1102L	Substitution - coding silent	Kidney
COSM5977721	c.8536C>T	p.P2846S	Substitution - Missense	Central_nervous_system
COSM302650	c.3723delC	p.Y1241fs*1	Deletion - Frameshift	Central_nervous_system
COSM3986973	c.6508G>A	p.V2170I	Substitution - Missense	Large_intestine
COSM5548542	c.3005C>T	p.A1002V	Substitution - Missense	Prostate
COSM3356323	c.7420-1G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM6008932	c.945G>A	p.W315*	Substitution - Nonsense	Large_intestine
COSM2006928	c.9583G>T	p.G3195*	Substitution - Nonsense	Large_intestine
COSM3461583	c.5275C>T	p.P1759S	Substitution - Missense	Skin
COSM4170462	c.840-1G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4834081	c.13573-1G>A	p.?	Unknown	Cervix
COSM3671088	c.7510C>A	p.R2504R	Substitution - coding silent	Prostate
COSM5031074	c.?_?insGG	p.?fs	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM431203	c.10026G>A	p.Q3342Q	Substitution - coding silent	Soft_tissue
COSM4880932	c.6543T>C	p.S2181S	Substitution - coding silent	Prostate
COSM693710	c.13659C>T	p.P4553P	Substitution - coding silent	Large_intestine
COSM87920	c.3576_3577insC	p.K1193fs*25	Insertion - Frameshift	Central_nervous_system
COSM5232987	c.?	p.I742fs*?	Frameshift	Lung
COSM5640170	c.10800_10801insT	p.A3601fs*141	Insertion - Frameshift	Oesophagus
COSM4467231	c.13973C>T	p.P4658L	Substitution - Missense	Skin
COSM5945907	c.9930+1G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4042350	c.12593G>A	p.R4198Q	Substitution - Missense	Upper_aerodigestive_tract
COSM5624250	c.5019delC	p.Y1674fs*103	Deletion - Frameshift	Oesophagus
COSM693700	c.9868G>A	p.D3290N	Substitution - Missense	Urinary_tract
COSM940078	c.2919G>A	p.T973T	Substitution - coding silent	Endometrium
COSM3718818	c.14133delA	p.K4711fs*14	Deletion - Frameshift	Upper_aerodigestive_tract
COSM4614706	c.5069delG	p.G1690fs*87	Deletion - Frameshift	Large_intestine
COSM5574196	c.11845C>T	p.Q3949*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM330259	c.12236C>T	p.P4079L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5460416	c.9152G>A	p.R3051Q	Substitution - Missense	Large_intestine
COSM221095	c.4304_4305delCA	p.R1436fs*22	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM431203	c.10026G>A	p.Q3342Q	Substitution - coding silent	Soft_tissue
COSM3710767	c.9765G>T	p.L3255L	Substitution - coding silent	Upper_aerodigestive_tract
COSM5634479	c.4162G>T	p.E1388*	Substitution - Nonsense	Oesophagus
COSM4147096	c.8230C>T	p.L2744L	Substitution - coding silent	Thyroid
COSM4463100	c.11950C>T	p.Q3984*	Substitution - Nonsense	Upper_aerodigestive_tract
COSM4170425	c.7228C>T	p.Q2410*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4170411	c.11327G>A	p.G3776E	Substitution - Missense	Eye
COSM4604300	c.12824T>C	p.V4275A	Substitution - Missense	Upper_aerodigestive_tract
COSM5960516	c.1806A>G	p.P602P	Substitution - coding silent	Thyroid
COSM30363	c.15765C>A	p.C5255*	Substitution - Nonsense	Kidney
COSM220670	c.14749G>C	p.A4917P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4767623	c.3858C>G	p.Y1286*	Substitution - Nonsense	Biliary_tract
COSM431203	c.10026G>A	p.Q3342Q	Substitution - coding silent	Soft_tissue
COSM5781880	c.15505C>G	p.R5169G	Substitution - Missense	Breast
COSM147497	c.2015-8C>T	p.?	Unknown	Soft_tissue
COSM5782740	c.13387G>A	p.E4463K	Substitution - Missense	Breast
COSM5731006	c.7193_7197delGCATG	p.G2398fs*4	Deletion - Frameshift	Breast
COSM4432704	c.511-1G>A	p.?	Unknown	Oesophagus
COSM4990242	c.12565G>T	p.G4189W	Substitution - Missense	Skin
COSM5349814	c.921G>A	p.M307I	Substitution - Missense	Lung
COSM5047779	c.3602G>T	p.C1201F	Substitution - Missense	Oesophagus
COSM144608	c.4897C>T	p.R1633*	Substitution - Nonsense	Bone
COSM5958946	c.6670_6671insG	p.F2224fs*12	Insertion - Frameshift	Thyroid
COSM168089	c.6251delC	p.P2084fs*30	Deletion - Frameshift	Large_intestine
COSM5656326	c.859delA	p.K287fs*17	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3733485	c.4366G>T	p.E1456*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4042401	c.2876C>T	p.P959L	Substitution - Missense	Prostate
COSM4589612	c.2343_2344insC	p.S783fs*12	Insertion - Frameshift	Skin
COSM5900920	c.14030C>T	p.P4677L	Substitution - Missense	Skin
COSM221072	c.12321G>A	p.W4107*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1606208	c.6944G>C	p.G2315A	Substitution - Missense	Liver
COSM5019733	c.9861A>G	p.P3287P	Substitution - coding silent	Soft_tissue
COSM1215210	c.3374C>T	p.S1125L	Substitution - Missense	Large_intestine
COSM4170435	c.5854C>T	p.Q1952*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4702420	c.12023G>T	p.G4008V	Substitution - Missense	Large_intestine
COSM4826566	c.9928C>T	p.Q3310*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM144619	c.9559_9560delCT	p.L3187fs*10	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5031167	c.?	p.P3389L	Substitution - Missense	Thymus
COSM5753947	c.14267C>T	p.P4756L	Substitution - Missense	Eye
COSM3986963	c.15531T>G	p.N5177K	Substitution - Missense	Kidney
COSM5920466	c.12328C>T	p.P4110S	Substitution - Missense	Skin
COSM144616	c.935_936insCACTC	p.H313fs*23	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1362018	c.7557-1G>T	p.?	Unknown	Large_intestine
COSM693664	c.3335G>T	p.S1112I	Substitution - Missense	Lung
COSM693690	c.6367G>T	p.E2123*	Substitution - Nonsense	Lung
COSM4042399	c.3049C>T	p.R1017W	Substitution - Missense	Stomach
COSM5949144	c.10231C>T	p.Q3411*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM144622	c.14323_14323delG	p.P4776fs*5	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM144615	c.777_790del14	p.L260fs*8	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM282818	c.3209A>G	p.D1070G	Substitution - Missense	Large_intestine
COSM144623	c.14736_14736delC	p.V4914fs*59	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5468432	c.15401C>G	p.S5134C	Substitution - Missense	Large_intestine
COSM2006773	c.12592C>T	p.R4198W	Substitution - Missense	Large_intestine
COSM5684036	c.12349C>T	p.Q4117*	Substitution - Nonsense	Soft_tissue
COSM144606	c.3393T>A	p.Y1131*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM88090	c.15691C>T	p.R5231*	Substitution - Nonsense	Lung
COSM168089	c.6251delC	p.P2084fs*30	Deletion - Frameshift	Large_intestine
COSM240690	c.4285C>T	p.R1429*	Substitution - Nonsense	Endometrium
COSM1745013	c.9920A>G	p.Q3307R	Substitution - Missense	Soft_tissue
COSM4627105	c.8635T>C	p.S2879P	Substitution - Missense	Large_intestine
COSM940048	c.6175G>A	p.A2059T	Substitution - Missense	Endometrium
COSM5361325	c.5784delC	p.Y1929fs*65	Deletion - Frameshift	Large_intestine
COSM5986519	c.7253_7254insCCAGT	p.E2418fs*5	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM221081	c.7917_7920delAAGT	p.S2640fs*32	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM2007422	c.1213C>T	p.Q405*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5731000	c.7217_7218delAG	p.E2406fs*47	Deletion - Frameshift	Breast
COSM2006923	c.9672G>A	p.P3224P	Substitution - coding silent	Prostate
COSM2007015	c.7588C>T	p.Q2530*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM2007209	c.4030C>T	p.R1344W	Substitution - Missense	Skin
COSM5566310	c.14710C>T	p.R4904W	Substitution - Missense	Prostate
COSM693718	c.14339T>G	p.L4780R	Substitution - Missense	Lung
COSM2007092	c.6308C>T	p.S2103F	Substitution - Missense	Prostate
COSM3772635	c.14522A>G	p.N4841S	Substitution - Missense	Pancreas
COSM939992	c.13938G>A	p.P4646P	Substitution - coding silent	Biliary_tract
COSM4754817	c.5380G>A	p.A1794T	Substitution - Missense	Stomach
COSM3725945	c.9805C>T	p.R3269W	Substitution - Missense	Lung
COSM4170405	c.12346_12353delACCCAGAA	p.T4116fs*21	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5375283	c.5670C>T	p.F1890F	Substitution - coding silent	Skin
COSM5415072	c.1379_1380insC	p.P461fs*3	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3461517	c.13444T>A	p.F4482I	Substitution - Missense	Skin
COSM87896	c.8784delC	p.S2929fs*3	Deletion - Frameshift	Central_nervous_system
COSM940016	c.10128G>A	p.G3376G	Substitution - coding silent	Endometrium
COSM4405994	c.2407G>A	p.E803K	Substitution - Missense	Skin
COSM3461599	c.2463C>T	p.L821L	Substitution - coding silent	Skin
COSM4990277	c.331C>T	p.P111S	Substitution - Missense	Skin
COSM3384418	c.1954C>T	p.R652C	Substitution - Missense	Pancreas
COSM1322478	c.10209T>A	p.L3403L	Substitution - coding silent	Ovary
COSM4754801	c.15095T>G	p.L5032R	Substitution - Missense	Stomach
COSM5051636	c.7291C>T	p.R2431W	Substitution - Missense	Stomach
COSM30370	c.10706A>G	p.Q3569R	Substitution - Missense	Kidney
COSM940002	c.11875C>T	p.R3959W	Substitution - Missense	Endometrium
COSM220685	c.7249C>T	p.R2417*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1257783	c.8449C>T	p.R2817W	Substitution - Missense	Biliary_tract
COSM5375277	c.11118C>T	p.G3706G	Substitution - coding silent	Skin
COSM4402245	c.15392T>C	p.L5131P	Substitution - Missense	Skin
COSM147497	c.2015-8C>T	p.?	Unknown	Soft_tissue
COSM1562070	c.1981C>T	p.R661C	Substitution - Missense	Large_intestine
COSM325824	c.9496A>T	p.K3166*	Substitution - Nonsense	Lung
COSM1215208	c.445G>A	p.V149I	Substitution - Missense	Large_intestine
COSM4828778	c.14932C>T	p.Q4978*	Substitution - Nonsense	Cervix
COSM4849953	c.5392C>T	p.R1798W	Substitution - Missense	Cervix
COSM6000242	c.2542G>T	p.D848Y	Substitution - Missense	Prostate
COSM1299421	c.14879G>T	p.C4960F	Substitution - Missense	Urinary_tract
COSM5015103	c.3500C>T	p.S1167L	Substitution - Missense	Kidney
COSM4170460	c.857_858insG	p.K287fs*1	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5986517	c.12760_12761insA	p.R4254fs*51	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM221089	c.8346_8347delTA	p.T2783fs*1	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4575455	c.4362C>T	p.P1454P	Substitution - coding silent	Bone
COSM4170451	c.3310C>T	p.Q1104*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4463100	c.11950C>T	p.Q3984*	Substitution - Nonsense	Skin
COSM144620	c.9584_9585insG	p.P3196fs*2	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM30422	c.11324A>G	p.Q3775R	Substitution - Missense	Lung
COSM221120	c.14465G>A	p.C4822Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM431205	c.9950A>T	p.E3317V	Substitution - Missense	Breast
COSM693706	c.12005G>A	p.G4002D	Substitution - Missense	Lung
COSM4042411	c.1749T>G	p.P583P	Substitution - coding silent	Stomach
COSM4656158	c.5130G>A	p.T1710T	Substitution - coding silent	Large_intestine
COSM147495	c.11700A>G	p.P3900P	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM4997754	c.1163delT	p.L388fs*14	Deletion - Frameshift	Pancreas
COSM30355	c.9798C>T	p.R3266R	Substitution - coding silent	Kidney
COSM4954795	c.15422T>C	p.L5141P	Substitution - Missense	Liver
COSM4605444	c.3874+1G>T	p.?	Unknown	Upper_aerodigestive_tract
COSM5576306	c.4518_4520delCTT	p.F1507delF	Deletion - In frame	Stomach
COSM5693362	c.8453G>T	p.G2818V	Substitution - Missense	Soft_tissue
COSM5948068	c.7641delG	p.W2548fs*33	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1128576	c.9370C>T	p.Q3124*	Substitution - Nonsense	Prostate
COSM4956709	c.14589T>G	p.C4863W	Substitution - Missense	Liver
COSM5375281	c.7764C>T	p.S2588S	Substitution - coding silent	Skin
COSM4603902	c.11192_11193insT	p.M3731fs*11	Insertion - Frameshift	Upper_aerodigestive_tract
COSM147497	c.2015-8C>T	p.?	Unknown	Stomach
COSM4827864	c.12229C>T	p.Q4077*	Substitution - Nonsense	Cervix
COSM220682	c.10927C>T	p.Q3643*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1299452	c.1243G>T	p.E415*	Substitution - Nonsense	Urinary_tract
COSM5019244	c.9382A>G	p.M3128V	Substitution - Missense	Soft_tissue
COSM5048898	c.5221G>T	p.E1741*	Substitution - Nonsense	Oesophagus
COSM4807538	c.14332C>G	p.R4778G	Substitution - Missense	Pancreas
COSM84157	c.2343G>A	p.P781P	Substitution - coding silent	Pancreas
COSM4575440	c.13683G>A	p.K4561K	Substitution - coding silent	Bone
COSM4961018	c.10313G>A	p.S3438N	Substitution - Missense	Liver
COSM693668	c.3343C>T	p.R1115W	Substitution - Missense	Lung
COSM1362039	c.4968T>C	p.L1656L	Substitution - coding silent	Large_intestine
COSM3986973	c.6508G>A	p.V2170I	Substitution - Missense	Large_intestine
COSM5606738	c.5238C>A	p.S1746S	Substitution - coding silent	Skin
COSM5752330	c.13520_13526delGCAAAGG	p.G4507fs*18	Deletion - Frameshift	Breast
COSM4459679	c.10552C>T	p.Q3518*	Substitution - Nonsense	Skin
COSM1362037	c.5008C>A	p.P1670T	Substitution - Missense	Large_intestine
COSM4954551	c.13336G>T	p.G4446W	Substitution - Missense	Liver
COSM940008	c.10562C>A	p.S3521Y	Substitution - Missense	Endometrium
COSM5945263	c.5698C>T	p.Q1900*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM144621	c.13972_13972delC	p.P4659fs*66	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4384754	c.2584C>T	p.P862S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4170454	c.1532C>G	p.P511R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4513424	c.8575C>T	p.P2859S	Substitution - Missense	Skin
COSM3461627	c.1514C>T	p.P505L	Substitution - Missense	Skin
COSM374100	c.2766A>T	p.T922T	Substitution - coding silent	Lung
COSM2007094	c.6276_6278delTCC	p.P2093delP	Deletion - In frame	Stomach
COSM3688228	c.11903G>A	p.R3968H	Substitution - Missense	Large_intestine
COSM5024996	c.12439C>T	p.Q4147*	Substitution - Nonsense	Breast
COSM5031028	c.?	p.?	Substitution - Nonsense	Central_nervous_system
COSM144612	c.11152C>T	p.Q3718*	Substitution - Nonsense	Stomach
COSM4597262	c.7216G>C	p.E2406Q	Substitution - Missense	Upper_aerodigestive_tract
COSM4430155	c.14098G>A	p.E4700K	Substitution - Missense	Oesophagus
COSM4471906	c.1748C>T	p.P583L	Substitution - Missense	Skin
COSM88090	c.15691C>T	p.R5231*	Substitution - Nonsense	Breast
COSM5031073	c.14837A>C	p.Y4946S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2006685	c.14112C>T	p.S4704S	Substitution - coding silent	Large_intestine
COSM4042340	c.13692A>T	p.E4564D	Substitution - Missense	Stomach
COSM1735694	c.?	p.?	Substitution - Missense	Central_nervous_system
COSM221144	c.1574_1575delAG	p.E525fs*8	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1362051	c.3800A>G	p.E1267G	Substitution - Missense	Large_intestine
COSM4463712	c.12218C>T	p.T4073I	Substitution - Missense	Skin
COSM221128	c.9985C>T	p.Q3329*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4170454	c.1532C>G	p.P511R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144617	c.1940_1940delC	p.P647fs*38	Deletion - Frameshift	Large_intestine
COSM5658173	c.13842delC	p.A4615fs*110	Deletion - Frameshift	Soft_tissue
COSM5635447	c.14925C>T	p.V4975V	Substitution - coding silent	Oesophagus
COSM431203	c.10026G>A	p.Q3342Q	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM5433384	c.10567C>T	p.Q3523*	Substitution - Nonsense	Large_intestine
COSM144598	c.7094G>A	p.R2365Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM88087	c.11902C>T	p.R3968C	Substitution - Missense	Stomach
COSM1161049	c.12201_12205TCCCA>A	p.T4069fs*44	Complex - frameshift	Haematopoietic_and_lymphoid_tissue
COSM220674	c.7678C>T	p.R2560*	Substitution - Nonsense	Central_nervous_system
COSM4444415	c.10370G>A	p.R3457H	Substitution - Missense	Large_intestine
COSM939986	c.14507G>A	p.R4836H	Substitution - Missense	Upper_aerodigestive_tract
COSM3461575	c.5794C>T	p.P1932S	Substitution - Missense	Skin
COSM4645138	c.9833C>T	p.T3278I	Substitution - Missense	Large_intestine
COSM4995130	c.15073G>A	p.G5025R	Substitution - Missense	Upper_aerodigestive_tract
COSM939994	c.13619A>C	p.K4540T	Substitution - Missense	Endometrium
COSM5654240	c.282T>C	p.C94C	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM4042342	c.13601C>T	p.A4534V	Substitution - Missense	Stomach
COSM30368	c.960C>T	p.C320C	Substitution - coding silent	Kidney
COSM147496	c.3582C>T	p.G1194G	Substitution - coding silent	Stomach
COSM240688	c.5312G>A	p.R1771H	Substitution - Missense	Prostate
COSM468458	c.2214G>A	p.P738P	Substitution - coding silent	Kidney
COSM2006925	c.9661C>T	p.R3221C	Substitution - Missense	Skin
COSM5574201	c.1871C>G	p.S624*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4891249	c.674A>G	p.E225G	Substitution - Missense	Upper_aerodigestive_tract
COSM5434868	c.6331C>A	p.P2111T	Substitution - Missense	Oesophagus
COSM5361561	c.7029G>A	p.P2343P	Substitution - coding silent	Large_intestine
COSM1316117	c.4558T>C	p.F1520L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1299440	c.5925C>G	p.L1975L	Substitution - coding silent	Urinary_tract
COSM5606738	c.5238C>A	p.S1746S	Substitution - coding silent	Skin
COSM5051628	c.15044C>G	p.P5015R	Substitution - Missense	Stomach
COSM3704185	c.3332G>A	p.G1111D	Substitution - Missense	Liver
COSM3461533	c.12189G>A	p.E4063E	Substitution - coding silent	Skin
COSM5986525	c.2097_2098insC	p.A701fs*16	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5574198	c.326T>C	p.V109A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4977962	c.3394C>T	p.H1132Y	Substitution - Missense	Skin
COSM3733274	c.15283C>T	p.Q5095*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM144623	c.14736_14736delC	p.V4914fs*59	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM693688	c.6135C>G	p.H2045Q	Substitution - Missense	Lung
COSM6009007	c.677A>G	p.E226G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5730764	c.9751C>G	p.L3251V	Substitution - Missense	Breast
COSM4385666	c.13236_13237insC	p.H4415fs*5	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5888172	c.12166C>T	p.P4056S	Substitution - Missense	Upper_aerodigestive_tract
COSM4042387	c.5655G>A	p.S1885S	Substitution - coding silent	Stomach
COSM4931518	c.14896A>C	p.N4966H	Substitution - Missense	Liver
COSM2007430	c.1010C>T	p.S337L	Substitution - Missense	Large_intestine
COSM221064	c.14479C>T	p.R4827*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4461656	c.11348C>T	p.T3783I	Substitution - Missense	Skin
COSM5112229	c.10369C>T	p.R3457C	Substitution - Missense	Biliary_tract
COSM5005284	c.3653G>A	p.W1218*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4575444	c.12986C>T	p.A4329V	Substitution - Missense	Bone
COSM1242518	c.12397A>G	p.N4133D	Substitution - Missense	Oesophagus
COSM4954795	c.15422T>C	p.L5141P	Substitution - Missense	Liver
COSM147495	c.11700A>G	p.P3900P	Substitution - coding silent	Soft_tissue
COSM88090	c.15691C>T	p.R5231*	Substitution - Nonsense	Breast
COSM4961018	c.10313G>A	p.S3438N	Substitution - Missense	Liver
COSM240684	c.9830G>A	p.R3277H	Substitution - Missense	Central_nervous_system
COSM1717668	c.12763G>C	p.V4255L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5747395	c.7250G>A	p.R2417Q	Substitution - Missense	Pancreas
COSM5946016	c.8458G>C	p.E2820Q	Substitution - Missense	Urinary_tract
COSM5019633	c.15168T>G	p.L5056L	Substitution - coding silent	Soft_tissue
COSM4042393	c.4225G>T	p.E1409*	Substitution - Nonsense	Stomach
COSM5599939	c.1855C>T	p.P619S	Substitution - Missense	Skin
COSM5562143	c.8624C>T	p.P2875L	Substitution - Missense	Prostate
COSM5599937	c.9532C>T	p.P3178S	Substitution - Missense	Skin
COSM5905910	c.9131C>T	p.S3044F	Substitution - Missense	Skin
COSM3739701	c.12051C>T	p.P4017P	Substitution - coding silent	Liver
COSM5045229	c.14414G>A	p.G4805E	Substitution - Missense	Oesophagus
COSM4702440	c.3463A>G	p.I1155V	Substitution - Missense	Large_intestine
COSM1362025	c.6860C>T	p.P2287L	Substitution - Missense	Breast
COSM1606200	c.14407C>T	p.Q4803*	Substitution - Nonsense	Liver
COSM144614	c.14808T>A	p.Y4936*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4952670	c.2270A>G	p.H757R	Substitution - Missense	Liver
COSM4995136	c.10267G>T	p.A3423S	Substitution - Missense	Upper_aerodigestive_tract
COSM5232988	c.3938G>A	p.R1313H	Substitution - Missense	Lung
COSM5031029	c.?	p.?fs	Frameshift	Central_nervous_system
COSM1361998	c.8980C>A	p.Q2994K	Substitution - Missense	Large_intestine
COSM4575453	c.5544C>G	p.P1848P	Substitution - coding silent	Bone
COSM4575448	c.10307_10317del11	p.L3436fs*3	Deletion - Frameshift	Bone
COSM249222	c.10919_10924delAGCAAC	p.Q3640_Q3641delQQ	Deletion - In frame	Kidney
COSM4702424	c.11769G>A	p.T3923T	Substitution - coding silent	Large_intestine
COSM6008964	c.239G>A	p.R80Q	Substitution - Missense	Large_intestine
COSM30383	c.6185C>T	p.T2062I	Substitution - Missense	Skin
COSM5660787	c.10174_10175delAT	p.M3392fs*12	Deletion - Frameshift	Soft_tissue
COSM5881463	c.?	p.R2817L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2006752	c.12970_12971insG	p.A4324fs*12	Insertion - Frameshift	Large_intestine
COSM3733342	c.7423_7424delAA	p.K2475fs*23	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4042334	c.14696T>C	p.I4899T	Substitution - Missense	Stomach
COSM2007241	c.3732G>T	p.E1244D	Substitution - Missense	Large_intestine
COSM5760954	c.2687A>G	p.Y896C	Substitution - Missense	Pancreas
COSM224427	c.3823G>A	p.D1275N	Substitution - Missense	Skin
COSM1362008	c.8399T>C	p.L2800P	Substitution - Missense	Large_intestine
COSM6005455	c.?	p.P2084fs*30	Frameshift	Breast
COSM4775071	c.2245C>T	p.P749S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5882264	c.13394G>A	p.R4465Q	Substitution - Missense	Large_intestine
COSM940100	c.34G>T	p.D12Y	Substitution - Missense	Endometrium
COSM3710769	c.8112C>A	p.G2704G	Substitution - coding silent	Upper_aerodigestive_tract
COSM144620	c.9584_9585insG	p.P3196fs*2	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5985861	c.13511G>A	p.W4504*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM240686	c.5357A>G	p.D1786G	Substitution - Missense	Prostate
COSM468434	c.13458A>T	p.K4486N	Substitution - Missense	Kidney
COSM3710906	c.14841G>C	p.W4947C	Substitution - Missense	Upper_aerodigestive_tract
COSM5574193	c.4475G>C	p.S1492T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM939974	c.14871C>A	p.C4957*	Substitution - Nonsense	Large_intestine
COSM431203	c.10026G>A	p.Q3342Q	Substitution - coding silent	Soft_tissue
COSM431203	c.10026G>A	p.Q3342Q	Substitution - coding silent	Large_intestine
COSM5017988	c.15496G>A	p.A5166T	Substitution - Missense	Soft_tissue
COSM3954822	c.15025G>T	p.D5009Y	Substitution - Missense	Lung
COSM4042413	c.1479C>T	p.P493P	Substitution - coding silent	Stomach
COSM5652361	c.3807delT	p.D1269fs*20	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5086712	c.4024C>T	p.R1342*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1361975	c.12448C>T	p.R4150W	Substitution - Missense	Upper_aerodigestive_tract
COSM3935975	c.8248A>T	p.K2750*	Substitution - Nonsense	Oesophagus
COSM5823767	c.8648G>T	p.G2883V	Substitution - Missense	Liver
COSM548521	c.5504G>A	p.R1835H	Substitution - Missense	Lung
COSM221162	c.1439delC	p.P480fs*205	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM415828	c.15349C>T	p.Q5117*	Substitution - Nonsense	Urinary_tract
COSM4848869	c.5057+1G>T	p.?	Unknown	Cervix
COSM3812166	c.1530A>C	p.S510S	Substitution - coding silent	Breast
COSM4702426	c.11708C>T	p.P3903L	Substitution - Missense	Skin
COSM5019733	c.9861A>G	p.P3287P	Substitution - coding silent	Soft_tissue
COSM80177	c.8268C>T	p.G2756G	Substitution - coding silent	Ovary
COSM3461519	c.13427G>A	p.R4476Q	Substitution - Missense	Skin
COSM4170466	c.573delG	p.L192fs*16	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4508798	c.7065C>T	p.L2355L	Substitution - coding silent	Skin
COSM5713526	c.2777_2778delTC	p.L926fs*7	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3954828	c.13834-2A>G	p.?	Unknown	Lung
COSM5492956	c.1200C>T	p.H400H	Substitution - coding silent	Biliary_tract
COSM939963	c.15588C>T	p.T5196T	Substitution - coding silent	Endometrium
COSM693712	c.13900C>T	p.R4634*	Substitution - Nonsense	Central_nervous_system
COSM2007092	c.6308C>T	p.S2103F	Substitution - Missense	Prostate
COSM4573042	c.8640T>C	p.L2880L	Substitution - coding silent	Skin
COSM5606738	c.5238C>A	p.S1746S	Substitution - coding silent	Skin
COSM5621266	c.5066G>A	p.G1689E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144608	c.4897C>T	p.R1633*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5948098	c.8739C>T	p.A2913A	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM2006637	c.14653_14656delGTCT	p.V4885fs*7	Deletion - Frameshift	Oesophagus
COSM4990260	c.6197delC	p.S2066fs*3	Deletion - Frameshift	Skin
COSM221064	c.14479C>T	p.R4827*	Substitution - Nonsense	Oesophagus
COSM4469137	c.15039C>T	p.L5013L	Substitution - coding silent	Skin
COSM5047401	c.13356C>A	p.F4452L	Substitution - Missense	Oesophagus
COSM306875	c.6539_6540AT>AAT	p.Y2180fs	Complex	Central_nervous_system
COSM4833805	c.2266C>T	p.Q756*	Substitution - Nonsense	Cervix
COSM5047114	c.10031C>G	p.S3344*	Substitution - Nonsense	Oesophagus
COSM1717662	c.7964C>T	p.A2655V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5346850	c.3565C>T	p.L1189F	Substitution - Missense	Pancreas
COSM347823	c.2778C>T	p.L926L	Substitution - coding silent	Lung
COSM302642	c.11192T>C	p.M3731T	Substitution - Missense	Central_nervous_system
COSM6000242	c.2542G>T	p.D848Y	Substitution - Missense	Prostate
COSM431203	c.10026G>A	p.Q3342Q	Substitution - coding silent	Soft_tissue
COSM4384738	c.4552G>A	p.A1518T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5885147	c.9036_9038delGCA	p.H3013del	Deletion - In frame	Urinary_tract
COSM4486709	c.2273C>T	p.S758F	Substitution - Missense	Skin
COSM220682	c.10927C>T	p.Q3643*	Substitution - Nonsense	Oesophagus
COSM3355856	c.3608C>G	p.S1203C	Substitution - Missense	Breast
COSM5444775	c.12048A>C	p.P4016P	Substitution - coding silent	Oesophagus
COSM3359762	c.7429A>G	p.S2477G	Substitution - Missense	Kidney
COSM4170389	c.15404G>A	p.R5135H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4384746	c.2945G>A	p.G982D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5653766	c.860delA	p.K287fs*17	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1731946	c.6512C>G	p.T2171S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2007300	c.2601C>T	p.T867T	Substitution - coding silent	Large_intestine
COSM2007479	c.231delC	p.H77fs*53	Deletion - Frameshift	Large_intestine
COSM4467943	c.14356C>T	p.L4786L	Substitution - coding silent	Skin
COSM4501826	c.5181C>T	p.S1727S	Substitution - coding silent	Skin
COSM1717602	c.7390C>T	p.R2464*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4775324	c.11772_11773insGGTCAGCT	p.R3928fs*20	Insertion - Frameshift	Central_nervous_system
COSM5016402	c.4429delG	p.E1477fs*38	Deletion - Frameshift	Kidney
COSM168089	c.6251delC	p.P2084fs*30	Deletion - Frameshift	Skin
COSM5817531	c.12449G>T	p.R4150L	Substitution - Missense	Liver
COSM30357	c.7430G>A	p.S2477N	Substitution - Missense	Kidney
COSM5949663	c.6058_6061delGAAG	p.E2020fs*31	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4953371	c.13567G>A	p.A4523T	Substitution - Missense	Liver
COSM5361805	c.12493G>A	p.A4165T	Substitution - Missense	Large_intestine
COSM4990252	c.6720C>T	p.V2240V	Substitution - coding silent	Skin
COSM3376272	c.14187C>T	p.G4729G	Substitution - coding silent	Pancreas
COSM4702428	c.9386A>C	p.Q3129P	Substitution - Missense	Large_intestine
COSM221104	c.2371_2372insG	p.V791fs*4	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3792641	c.2410A>T	p.K804*	Substitution - Nonsense	Urinary_tract
COSM5473397	c.4973-10C>T	p.?	Unknown	Large_intestine
COSM4702430	c.9021_9023delGCA	p.Q3012delQ	Deletion - In frame	Large_intestine
COSM4655208	c.593C>T	p.A198V	Substitution - Missense	Small_intestine
COSM5944627	c.8882_8883insG	p.D2961fs*2	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3954840	c.8053C>G	p.P2685A	Substitution - Missense	Lung
COSM1362025	c.6860C>T	p.P2287L	Substitution - Missense	Soft_tissue
COSM147497	c.2015-8C>T	p.?	Unknown	Soft_tissue
COSM5025111	c.14629A>G	p.S4877G	Substitution - Missense	Breast
COSM1742336	c.14332C>T	p.R4778C	Substitution - Missense	Oesophagus
COSM2006671	c.14278C>T	p.R4760C	Substitution - Missense	Pancreas
COSM144605	c.631C>T	p.Q211*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM30429	c.13405C>T	p.P4469S	Substitution - Missense	Skin
COSM693698	c.9268C>T	p.Q3090*	Substitution - Nonsense	Oesophagus
COSM4604033	c.9935G>A	p.R3312Q	Substitution - Missense	Oesophagus
COSM4877797	c.15468C>G	p.Y5156*	Substitution - Nonsense	Prostate
COSM468467	c.785C>A	p.A262D	Substitution - Missense	Kidney
COSM5634124	c.2878G>T	p.E960*	Substitution - Nonsense	Oesophagus
COSM940012	c.10366C>T	p.Q3456*	Substitution - Nonsense	Endometrium
COSM4754811	c.10769A>G	p.Q3590R	Substitution - Missense	Stomach
COSM302644	c.15550C>T	p.R5184*	Substitution - Nonsense	Endometrium
COSM693643	c.1113-2A>T	p.?	Unknown	Lung
COSM939972	c.15369C>T	p.T5123T	Substitution - coding silent	Endometrium
COSM5025123	c.1996C>T	p.P666S	Substitution - Missense	Breast
COSM144613	c.13324G>T	p.E4442*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5739641	c.7615C>T	p.P2539S	Substitution - Missense	Small_intestine
COSM4410278	c.9765G>A	p.L3255L	Substitution - coding silent	Oesophagus
COSM5966647	c.62C>T	p.A21V	Substitution - Missense	Adrenal_gland
COSM4655208	c.593C>T	p.A198V	Substitution - Missense	Large_intestine
COSM5697454	c.10141C>T	p.Q3381*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM3359764	c.3306A>G	p.L1102L	Substitution - coding silent	Kidney
COSM78991	c.4507C>T	p.Q1503*	Substitution - Nonsense	Ovary
COSM221070	c.7994C>G	p.S2665*	Substitution - Nonsense	Pancreas
COSM1734695	c.12631G>A	p.E4211K	Substitution - Missense	Pancreas
COSM3461597	c.2543A>C	p.D848A	Substitution - Missense	Skin
COSM3764422	c.14671G>T	p.E4891*	Substitution - Nonsense	Central_nervous_system
COSM144617	c.1940_1940delC	p.P647fs*38	Deletion - Frameshift	Stomach
COSM940028	c.8234G>A	p.G2745D	Substitution - Missense	Endometrium
COSM144609	c.6418C>T	p.R2140*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM693643	c.1113-2A>T	p.?	Unknown	Oesophagus
COSM5659472	c.6863C>T	p.P2288L	Substitution - Missense	Soft_tissue
COSM5967274	c.5527_5542del16	p.L1843fs*26	Deletion - Frameshift	Salivary_gland
COSM5962523	c.5311C>G	p.R1771G	Substitution - Missense	Breast
COSM5574010	c.5761_5762insC	p.A1922fs*10	Insertion - Frameshift	Prostate
COSM147495	c.11700A>G	p.P3900P	Substitution - coding silent	Soft_tissue
COSM431203	c.10026G>A	p.Q3342Q	Substitution - coding silent	Soft_tissue
COSM5361839	c.12793T>C	p.S4265P	Substitution - Missense	Large_intestine
COSM5423558	c.7802delC	p.P2601fs*39	Deletion - Frameshift	Prostate
COSM5967273	c.13138_13138delG	p.E4380fs*16	Deletion - Frameshift	Salivary_gland
COSM1362029	c.6653C>T	p.S2218L	Substitution - Missense	Large_intestine
COSM2006831	c.11606T>C	p.V3869A	Substitution - Missense	Large_intestine
COSM3710912	c.6745G>T	p.V2249F	Substitution - Missense	Upper_aerodigestive_tract
COSM5920470	c.14977G>C	p.V4993L	Substitution - Missense	Skin
COSM1362027	c.6665G>T	p.G2222V	Substitution - Missense	Large_intestine
COSM4147100	c.8223C>G	p.H2741Q	Substitution - Missense	Thyroid
COSM3356318	c.10576C>T	p.Q3526*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM693712	c.13900C>T	p.R4634*	Substitution - Nonsense	Large_intestine
COSM4170439	c.4973-2A>C	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5431629	c.13770delT	p.F4590fs*10	Deletion - Frameshift	Oesophagus
COSM5656299	c.12968G>A	p.G4323E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5599939	c.1855C>T	p.P619S	Substitution - Missense	Skin
COSM5704469	c.14251C>T	p.R4751*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM693684	c.5840G>A	p.R1947H	Substitution - Missense	Lung
COSM4977962	c.3394C>T	p.H1132Y	Substitution - Missense	Oesophagus
COSM2007136	c.5278A>C	p.N1760H	Substitution - Missense	Large_intestine
COSM4384740	c.4187C>T	p.P1396L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4801613	c.9630G>T	p.Q3210H	Substitution - Missense	Liver
COSM5968225	c.8049G>T	p.K2683N	Substitution - Missense	Genital_tract
COSM1723605	c.1498G>T	p.E500*	Substitution - Nonsense	Skin
COSM1215188	c.15157C>T	p.R5053C	Substitution - Missense	Large_intestine
COSM3968241	c.12608A>C	p.Q4203P	Substitution - Missense	Central_nervous_system
COSM5051646	c.1966delC	p.L656fs*29	Deletion - Frameshift	Stomach
COSM3733923	c.6868delC	p.H2290fs*23	Deletion - Frameshift	Pancreas
COSM3710910	c.7417C>T	p.Q2473*	Substitution - Nonsense	Upper_aerodigestive_tract
COSM1735694	c.?	p.?	Substitution - Missense	Central_nervous_system
COSM5986515	c.14160_14161insCG	p.L4722fs*4	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5900918	c.10084C>T	p.P3362S	Substitution - Missense	Skin
COSM5726715	c.2731G>A	p.E911K	Substitution - Missense	Skin
COSM5916241	c.14941G>A	p.E4981K	Substitution - Missense	Skin
COSM693680	c.4625C>G	p.S1542*	Substitution - Nonsense	Lung
COSM1361981	c.12065C>T	p.P4022L	Substitution - Missense	Large_intestine
COSM4147098	c.8229T>A	p.G2743G	Substitution - coding silent	Thyroid
COSM4775097	c.1931T>C	p.M644T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5641246	c.5094G>A	p.E1698E	Substitution - coding silent	Oesophagus
COSM5684504	c.1397G>T	p.R466L	Substitution - Missense	Soft_tissue
COSM939992	c.13938G>A	p.P4646P	Substitution - coding silent	Endometrium
COSM431197	c.12897C>A	p.I4299I	Substitution - coding silent	Breast
COSM87928	c.6128_6129insCATCCAC	p.T2044fs*14	Insertion - Frameshift	Central_nervous_system
COSM5599939	c.1855C>T	p.P619S	Substitution - Missense	Skin
COSM1606206	c.7170A>G	p.E2390E	Substitution - coding silent	Liver
COSM4042348	c.12640C>T	p.R4214*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4385670	c.10391_10392insGCA	p.Q3475_H3476insQ	Insertion - In frame	Haematopoietic_and_lymphoid_tissue
COSM4884355	c.11011C>T	p.Q3671*	Substitution - Nonsense	Upper_aerodigestive_tract
COSM1362057	c.2885delG	p.G962fs*95	Deletion - Frameshift	Large_intestine
COSM3812151	c.15494T>G	p.V5165G	Substitution - Missense	Breast
COSM5656347	c.10927_10929delCAG	p.Q3649delQ	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM268076	c.7955G>A	p.R2652Q	Substitution - Missense	Prostate
COSM939998	c.12533A>G	p.H4178R	Substitution - Missense	Endometrium
COSM940020	c.9961C>T	p.L3321F	Substitution - Missense	Endometrium
COSM1512055	c.11782C>T	p.R3928*	Substitution - Nonsense	Pancreas
COSM1717664	c.13784C>T	p.P4595L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3722549	c.3022G>T	p.G1008*	Substitution - Nonsense	Soft_tissue
COSM4384722	c.8752A>G	p.T2918A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4575436	c.14784_14785insA	p.F4929fs*3	Insertion - Frameshift	Bone
COSM4511718	c.7979C>T	p.P2660L	Substitution - Missense	Skin
COSM5443630	c.2518G>A	p.D840N	Substitution - Missense	Oesophagus
COSM5553517	c.14212G>T	p.E4738*	Substitution - Nonsense	Prostate
COSM693639	c.400+1G>A	p.?	Unknown	Liver
COSM3461547	c.9606C>T	p.N3202N	Substitution - coding silent	Skin
COSM5946014	c.8830G>C	p.E2944Q	Substitution - Missense	Urinary_tract
COSM415826	c.13093C>T	p.Q4365*	Substitution - Nonsense	Urinary_tract
COSM5672569	c.14151G>A	p.W4717*	Substitution - Nonsense	Soft_tissue
COSM5913428	c.15418G>A	p.G5140R	Substitution - Missense	Skin
COSM5361536	c.3548G>A	p.C1183Y	Substitution - Missense	Large_intestine
COSM940080	c.2918C>T	p.T973M	Substitution - Missense	Endometrium
COSM1299446	c.3723C>A	p.Y1241*	Substitution - Nonsense	Urinary_tract
COSM5571539	c.14364G>A	p.V4788V	Substitution - coding silent	Prostate
COSM5985863	c.4341G>A	p.V1447V	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM693674	c.3862G>C	p.V1288L	Substitution - Missense	Lung
COSM4470392	c.1658C>T	p.P553L	Substitution - Missense	Skin
COSM3461535	c.12181C>T	p.P4061S	Substitution - Missense	Skin
COSM4575442	c.13392C>T	p.D4464D	Substitution - coding silent	Bone
COSM4765760	c.1941_1942insC	p.E649fs*1	Insertion - Frameshift	Stomach
COSM5429018	c.671_672insATCT	p.E225fs*10	Insertion - Frameshift	Oesophagus
COSM2007148	c.4982C>A	p.P1661H	Substitution - Missense	Large_intestine
COSM1731940	c.1306G>A	p.E436K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1215202	c.2953C>T	p.R985W	Substitution - Missense	Large_intestine
COSM5675585	c.14844C>G	p.S4948R	Substitution - Missense	Soft_tissue
COSM693653	c.2432C>T	p.P811L	Substitution - Missense	Lung
COSM1361967	c.13074_13075insC	p.T4359fs*18	Insertion - Frameshift	Large_intestine
COSM4975665	c.10156C>T	p.R3386C	Substitution - Missense	Oesophagus
COSM5747393	c.11217_11218delTT	p.S3740fs*1	Deletion - Frameshift	Pancreas
COSM4384710	c.11413C>T	p.L3805F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3710769	c.8112C>A	p.G2704G	Substitution - coding silent	Upper_aerodigestive_tract
COSM4767367	c.7930_7930delC	p.H2644fs*29	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM221112	c.7556+1G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM3733350	c.8887delC	p.L2963fs*1	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4170464	c.687T>A	p.C229*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM240690	c.4285C>T	p.R1429*	Substitution - Nonsense	Central_nervous_system
COSM221012	c.15401C>T	p.S5134F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4910423	c.13848A>G	p.P4616P	Substitution - coding silent	Liver
COSM30426	c.4368G>A	p.E1456E	Substitution - coding silent	Skin
COSM2007418	c.1350C>T	p.S450S	Substitution - coding silent	Large_intestine
COSM30358	c.7495G>A	p.D2499N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2006647	c.14480G>A	p.R4827Q	Substitution - Missense	Breast
COSM5662699	c.12327C>T	p.P4109P	Substitution - coding silent	Soft_tissue
COSM3461521	c.13356C>T	p.F4452F	Substitution - coding silent	Skin
COSM4150127	c.13981G>A	p.E4661K	Substitution - Missense	Ovary
COSM4897736	c.13644G>A	p.L4548L	Substitution - coding silent	Skin
COSM5947659	c.9689delG	p.G3230fs*2	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4384700	c.13664G>A	p.R4555Q	Substitution - Missense	Upper_aerodigestive_tract
COSM1628643	c.5299+3A>T	p.?	Unknown	Liver
COSM1316066	c.7591C>T	p.R2531*	Substitution - Nonsense	Oesophagus
COSM2006647	c.14480G>A	p.R4827Q	Substitution - Missense	Large_intestine
COSM4606140	c.8539G>T	p.E2847*	Substitution - Nonsense	Upper_aerodigestive_tract
COSM5821854	c.7317A>T	p.A2439A	Substitution - coding silent	Liver
COSM6000730	c.7684G>A	p.A2562T	Substitution - Missense	Prostate
COSM431201	c.10066C>T	p.R3356W	Substitution - Missense	Breast
COSM2006635	c.14662G>T	p.E4888*	Substitution - Nonsense	Upper_aerodigestive_tract
COSM4473501	c.1854C>T	p.S618S	Substitution - coding silent	Skin
COSM1215196	c.11509C>A	p.L3837M	Substitution - Missense	Large_intestine
COSM4042361	c.9836C>T	p.A3279V	Substitution - Missense	Stomach
COSM5051642	c.3145C>T	p.R1049C	Substitution - Missense	Stomach
COSM5660789	c.820A>G	p.K274E	Substitution - Missense	Soft_tissue
COSM221079	c.3316_3317delAT	p.M1106fs*52	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3954838	c.9389A>T	p.Q3130L	Substitution - Missense	Lung
COSM4042328	c.15061G>A	p.E5021K	Substitution - Missense	Stomach
COSM5415729	c.3791delT	p.L1264fs*25	Deletion - Frameshift	Prostate
COSM78094	c.12418G>T	p.A4140S	Substitution - Missense	Ovary
COSM3722549	c.3022G>T	p.G1008*	Substitution - Nonsense	Upper_aerodigestive_tract
COSM5019387	c.10002_10022del21	p.Q3336_Q3342delQQQQQQQ	Deletion - In frame	Soft_tissue
COSM5625613	c.12637_12638insG	p.L4213fs*4	Insertion - Frameshift	Oesophagus
COSM1723605	c.1498G>T	p.E500*	Substitution - Nonsense	Skin
COSM4849743	c.3214G>C	p.D1072H	Substitution - Missense	Cervix
COSM2006615	c.14850C>T	p.R4950R	Substitution - coding silent	Large_intestine
COSM4604020	c.9764T>C	p.L3255P	Substitution - Missense	Upper_aerodigestive_tract
COSM5730756	c.5545delG	p.A1849fs*25	Deletion - Frameshift	Breast
COSM4976592	c.9682_9683insC	p.Q3229fs*6	Insertion - Frameshift	Oesophagus
COSM3733426	c.9010_9039>27	p.Q3012delQ	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM147495	c.11700A>G	p.P3900P	Substitution - coding silent	Soft_tissue
COSM255295	c.3655C>T	p.Q1219*	Substitution - Nonsense	Central_nervous_system
COSM147497	c.2015-8C>T	p.?	Unknown	Soft_tissue
COSM693694	c.8802A>T	p.P2934P	Substitution - coding silent	Lung
COSM5623110	c.10685C>T	p.S3562F	Substitution - Missense	Oesophagus
COSM3722547	c.1111A>G	p.R371G	Substitution - Missense	Upper_aerodigestive_tract
COSM4042354	c.11741G>A	p.G3914D	Substitution - Missense	Stomach
COSM3356316	c.14726G>A	p.R4909H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM30424	c.15480C>G	p.I5160M	Substitution - Missense	Lung
COSM5433384	c.10567C>T	p.Q3523*	Substitution - Nonsense	Oesophagus
COSM221060	c.9151C>T	p.R3051*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM88086	c.15485G>A	p.R5162Q	Substitution - Missense	Large_intestine
COSM144600	c.13166G>C	p.R4389P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM221052	c.9187C>T	p.Q3063*	Substitution - Nonsense	Lung
COSM1717602	c.7390C>T	p.R2464*	Substitution - Nonsense	Skin
COSM4511419	c.7871C>T	p.P2624L	Substitution - Missense	Skin
COSM4569556	c.1845T>G	p.S615S	Substitution - coding silent	Skin
COSM5020129	c.3202-11_3202-10delCT	p.?	Unknown	Soft_tissue
COSM5944625	c.11855_11856insAGC	p.L3952_Q3953insA	Insertion - In frame	Haematopoietic_and_lymphoid_tissue
COSM128695	c.14025_14026insC	p.V4676fs*12	Insertion - Frameshift	Upper_aerodigestive_tract
COSM221066	c.15484C>T	p.R5162W	Substitution - Missense	Large_intestine
COSM4568032	c.9004_9005CC>TT	p.P3002F	Substitution - Missense	Skin
COSM3968243	c.10413A>G	p.Q3471Q	Substitution - coding silent	Central_nervous_system
COSM5986521	c.7248_7249ins15	p.L2416_R2417insTGTEL	Insertion - In frame	Haematopoietic_and_lymphoid_tissue
COSM240690	c.4285C>T	p.R1429*	Substitution - Nonsense	Urinary_tract
COSM4850058	c.6199C>G	p.Q2067E	Substitution - Missense	Cervix
COSM3359768	c.344T>A	p.L115Q	Substitution - Missense	Kidney
COSM5581669	c.14298delT	p.H4766fs*15	Deletion - Frameshift	Skin
COSM3376429	c.8641G>A	p.G2881S	Substitution - Missense	Pancreas
COSM4170441	c.3814C>T	p.Q1272*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM147497	c.2015-8C>T	p.?	Unknown	Soft_tissue
COSM4512961	c.8414C>T	p.S2805L	Substitution - Missense	Skin
COSM126803	c.3385C>T	p.Q1129*	Substitution - Nonsense	Upper_aerodigestive_tract
COSM4147094	c.13512G>A	p.W4504*	Substitution - Nonsense	Thyroid
COSM940026	c.8786G>A	p.S2929N	Substitution - Missense	Endometrium
COSM4843204	c.6163G>A	p.D2055N	Substitution - Missense	Cervix
COSM5739643	c.7090C>T	p.Q2364*	Substitution - Nonsense	Small_intestine
COSM5369879	c.?	p.A4592G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2007377	c.1940delC	p.P647fs*38	Deletion - Frameshift	Large_intestine
COSM221138	c.4555delC	p.L1519fs*13	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3461577	c.5764G>A	p.A1922T	Substitution - Missense	Skin
COSM1241435	c.190C>T	p.R64W	Substitution - Missense	Oesophagus
COSM4042401	c.2876C>T	p.P959L	Substitution - Missense	Stomach
COSM5413601	c.31A>G	p.K11E	Substitution - Missense	Prostate
COSM5031029	c.?	p.?fs	Frameshift	Central_nervous_system
COSM431203	c.10026G>A	p.Q3342Q	Substitution - coding silent	Soft_tissue
COSM5945269	c.1112+1G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4467229	c.13972C>T	p.P4658S	Substitution - Missense	Skin
COSM1195950	c.9872C>A	p.A3291D	Substitution - Missense	Lung
COSM41485	c.6101C>A	p.S2034*	Substitution - Nonsense	Lung
COSM2006617	c.14831G>A	p.R4944H	Substitution - Missense	Prostate
COSM144602	c.14357T>C	p.L4516P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3461563	c.6805C>T	p.P2269S	Substitution - Missense	Skin
COSM3722551	c.6669G>T	p.G2223G	Substitution - coding silent	Soft_tissue
COSM4614702	c.14080delC	p.R4694fs*31	Deletion - Frameshift	Large_intestine
COSM5945267	c.2713C>T	p.Q905*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM3688234	c.5684C>T	p.P1895L	Substitution - Missense	Large_intestine
COSM431203	c.10026G>A	p.Q3342Q	Substitution - coding silent	Soft_tissue
COSM230703	c.2242C>T	p.P748S	Substitution - Missense	Skin
COSM221116	c.13189+1G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM220682	c.10927C>T	p.Q3643*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5913422	c.5209G>A	p.E1737K	Substitution - Missense	Skin
COSM3986975	c.4878G>C	p.K1626N	Substitution - Missense	Kidney
COSM4384734	c.5141C>T	p.P1714L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM162501	c.9636G>T	p.R3212R	Substitution - coding silent	Breast
COSM240684	c.9830G>A	p.R3277H	Substitution - Missense	Breast
COSM1476600	c.10904A>T	p.Q3635L	Substitution - Missense	Breast
COSM4152834	c.12971C>G	p.A4324G	Substitution - Missense	Kidney
COSM4571930	c.5076T>C	p.F1692F	Substitution - coding silent	Skin
COSM5644956	c.12243_12244insT	p.E4082fs*1	Insertion - Frameshift	Oesophagus
COSM5937563	c.3937C>T	p.R1313C	Substitution - Missense	Skin
COSM4702451	c.912delA	p.K304fs*30	Deletion - Frameshift	Large_intestine
COSM4702414	c.14362G>A	p.V4788M	Substitution - Missense	Large_intestine
COSM5704467	c.14725C>T	p.R4909C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM431207	c.9934C>T	p.R3312W	Substitution - Missense	Breast
COSM405092	c.3471_3472delTG	p.C1157fs*1	Deletion - Frameshift	Lung
COSM3376276	c.8392G>T	p.E2798*	Substitution - Nonsense	Pancreas
COSM5882266	c.4138G>C	p.G1380R	Substitution - Missense	Skin
COSM4961132	c.299G>A	p.G100E	Substitution - Missense	Liver
COSM4990266	c.4093G>A	p.D1365N	Substitution - Missense	Skin
COSM4468532	c.14685C>T	p.I4895I	Substitution - coding silent	Skin
COSM144610	c.7648C>T	p.Q2550*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1735694	c.?	p.?	Substitution - Missense	Central_nervous_system
COSM1361975	c.12448C>T	p.R4150W	Substitution - Missense	Upper_aerodigestive_tract
COSM1745213	c.3961_3962delGA	p.E1321fs*8	Deletion - Frameshift	Urinary_tract
COSM2006831	c.11606T>C	p.V3869A	Substitution - Missense	Large_intestine
COSM4923499	c.8306A>G	p.D2769G	Substitution - Missense	Liver
COSM4824787	c.7471C>T	p.L2491L	Substitution - coding silent	Cervix
COSM5949094	c.9419delC	p.T3140fs*23	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5436342	c.3524G>A	p.C1175Y	Substitution - Missense	Oesophagus
COSM4702408	c.15148C>T	p.R5050C	Substitution - Missense	Large_intestine
COSM5730760	c.3077delG	p.R1026fs*31	Deletion - Frameshift	Breast
COSM4424478	c.3968G>C	p.G1323A	Substitution - Missense	Oesophagus
COSM1316066	c.7591C>T	p.R2531*	Substitution - Nonsense	Upper_aerodigestive_tract
COSM940102	c.13A>C	p.K5Q	Substitution - Missense	Endometrium
COSM5574203	c.5923C>G	p.L1975V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM221140	c.15635_15636delTG	p.V5212fs*7	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM240682	c.11351_11365del15	p.P3785_A3789delPESMA	Deletion - In frame	Prostate
COSM4608453	c.1417G>T	p.E473*	Substitution - Nonsense	Adrenal_gland
COSM4839798	c.870T>G	p.V290V	Substitution - coding silent	Cervix
COSM4042322	c.15619T>G	p.C5207G	Substitution - Missense	Stomach
COSM5945883	c.13966G>A	p.A4656T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5640620	c.15019G>T	p.E5007*	Substitution - Nonsense	Oesophagus
COSM4147102	c.7444C>G	p.P2482A	Substitution - Missense	Thyroid
COSM30361	c.4640T>A	p.L1547H	Substitution - Missense	Kidney
COSM5721935	c.7901C>T	p.P2634L	Substitution - Missense	Skin
COSM30428	c.12706C>T	p.P4236S	Substitution - Missense	Skin
COSM4465036	c.12831C>T	p.A4277A	Substitution - coding silent	Skin
COSM5573950	c.1584_1585insC	p.S529fs*5	Insertion - Frameshift	Prostate
COSM431213	c.5050G>C	p.D1684H	Substitution - Missense	Breast
COSM4168679	c.14812G>A	p.V4938M	Substitution - Missense	Stomach
COSM221160	c.9518G>TA	p.S3173fs	Complex	Haematopoietic_and_lymphoid_tissue
COSM5946761	c.9301C>T	p.Q3101*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5757631	c.9811G>T	p.A3271S	Substitution - Missense	Eye
COSM2006881	c.10331G>A	p.R3444K	Substitution - Missense	Stomach
COSM1735693	c.?	p.P808Q	Substitution - Missense	Skin
COSM302648	c.14272G>T	p.D4758Y	Substitution - Missense	Central_nervous_system
COSM5757633	c.4789G>A	p.G1597S	Substitution - Missense	Eye
COSM5232994	c.12101C>T	p.P4034L	Substitution - Missense	Lung
COSM5730758	c.2692delG	p.E898fs*41	Deletion - Frameshift	Breast
COSM1628637	c.13196C>A	p.S4399*	Substitution - Nonsense	Liver
COSM3968250	c.1215A>G	p.Q405Q	Substitution - coding silent	Central_nervous_system
COSM5731004	c.1300delC	p.L434fs*1	Deletion - Frameshift	Breast
COSM693712	c.13900C>T	p.R4634*	Substitution - Nonsense	Stomach
COSM1215210	c.3374C>T	p.S1125L	Substitution - Missense	Eye
COSM3722551	c.6669G>T	p.G2223G	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM4828543	c.9369G>A	p.P3123P	Substitution - coding silent	Cervix
COSM4995132	c.13339G>T	p.E4447*	Substitution - Nonsense	Upper_aerodigestive_tract
COSM4042399	c.3049C>T	p.R1017W	Substitution - Missense	Prostate
COSM221068	c.7088C>A	p.S2363*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1161051	c.3416A>G	p.K1139R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4575461	c.571C>T	p.R191W	Substitution - Missense	Bone
COSM5721935	c.7901C>T	p.P2634L	Substitution - Missense	Skin
COSM6005460	c.?	p.L4156fs*6	Frameshift	Breast
COSM3461549	c.9458C>T	p.P3153L	Substitution - Missense	Skin
COSM30425	c.12246G>A	p.E4082E	Substitution - coding silent	Oesophagus
COSM939988	c.14506C>T	p.R4836C	Substitution - Missense	Endometrium
COSM1299423	c.14775G>C	p.Q4925H	Substitution - Missense	Urinary_tract
COSM4702410	c.14907G>A	p.P4969P	Substitution - coding silent	Large_intestine
COSM3954824	c.14520C>A	p.P4840P	Substitution - coding silent	Lung
COSM1316066	c.7591C>T	p.R2531*	Substitution - Nonsense	Oesophagus
COSM940014	c.10309C>T	p.R3437*	Substitution - Nonsense	Upper_aerodigestive_tract
COSM1742336	c.14332C>T	p.R4778C	Substitution - Missense	Urinary_tract
COSM3461625	c.1588C>T	p.P530S	Substitution - Missense	Skin
COSM2006645	c.14493C>T	p.T4831T	Substitution - coding silent	Upper_aerodigestive_tract
COSM4702438	c.4144G>A	p.G1382S	Substitution - Missense	Large_intestine
COSM4649865	c.10911A>G	p.Q3637Q	Substitution - coding silent	Large_intestine
COSM4424270	c.13705+2delT	p.?	Unknown	Oesophagus
COSM5361254	c.10172delG	p.G3391fs*88	Deletion - Frameshift	Large_intestine
COSM4147108	c.3486G>T	p.Q1162H	Substitution - Missense	Thyroid
COSM4385672	c.8779_8780insC	p.S2929fs*16	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3461587	c.4923C>T	p.T1641T	Substitution - coding silent	Stomach
COSM221091	c.13339delG	p.E4447fs*80	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3733308	c.4613G>A	p.G1538E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3359766	c.3304C>A	p.L1102I	Substitution - Missense	Kidney
COSM4511538	c.7911C>T	p.Y2637Y	Substitution - coding silent	Skin
COSM126804	c.2653G>T	p.E885*	Substitution - Nonsense	Upper_aerodigestive_tract
COSM4436744	c.3500C>A	p.S1167*	Substitution - Nonsense	Oesophagus
COSM415822	c.2233G>T	p.E745*	Substitution - Nonsense	Urinary_tract
COSM3722551	c.6669G>T	p.G2223G	Substitution - coding silent	Soft_tissue
COSM3812161	c.3493G>A	p.D1165N	Substitution - Missense	Breast
COSM940042	c.6954C>T	p.H2318H	Substitution - coding silent	Endometrium
COSM88090	c.15691C>T	p.R5231*	Substitution - Nonsense	Breast
COSM431211	c.8895G>C	p.K2965N	Substitution - Missense	Breast
COSM3461587	c.4923C>T	p.T1641T	Substitution - coding silent	Skin
COSM1361991	c.10770_10772delGCA	p.Q3593delQ	Deletion - In frame	Large_intestine
COSM3782728	c.8131C>G	p.L2711V	Substitution - Missense	Prostate
COSM693692	c.8450G>T	p.R2817L	Substitution - Missense	Lung
COSM3671086	c.8093C>A	p.P2698Q	Substitution - Missense	Prostate
COSM3461543	c.10471C>T	p.P3491S	Substitution - Missense	Skin
COSM2006671	c.14278C>T	p.R4760C	Substitution - Missense	Skin
COSM940092	c.1396C>T	p.R466C	Substitution - Missense	Biliary_tract
COSM3722551	c.6669G>T	p.G2223G	Substitution - coding silent	Soft_tissue
COSM4611394	c.6783_6784insC	p.S2262fs*123	Insertion - Frameshift	Large_intestine
COSM5944623	c.13335_13336insG	p.E4447fs*65	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM6005461	c.?	p.Q3229*	Substitution - Nonsense	Breast
COSM940058	c.4942C>T	p.R1648C	Substitution - Missense	Endometrium
COSM940054	c.5514G>A	p.P1838P	Substitution - coding silent	Endometrium
COSM4807084	c.2950C>T	p.L984L	Substitution - coding silent	Pancreas
COSM221066	c.15484C>T	p.R5162W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5638854	c.1584A>T	p.P528P	Substitution - coding silent	Oesophagus
COSM4990234	c.15116C>T	p.P5039L	Substitution - Missense	Skin
COSM3688236	c.3118C>T	p.R1040W	Substitution - Missense	Large_intestine
COSM4042401	c.2876C>T	p.P959L	Substitution - Missense	Prostate
COSM3461603	c.2274C>T	p.S758S	Substitution - coding silent	Skin
COSM5599939	c.1855C>T	p.P619S	Substitution - Missense	Skin
COSM5375279	c.8038C>T	p.P2680S	Substitution - Missense	Skin
COSM940044	c.6898C>A	p.P2300T	Substitution - Missense	Endometrium
COSM4641035	c.9199C>T	p.H3067Y	Substitution - Missense	Large_intestine
COSM939967	c.15520G>A	p.E5174K	Substitution - Missense	Endometrium
COSM221118	c.839+2T>C	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4402690	c.14969C>T	p.P4990L	Substitution - Missense	Skin
COSM30371	c.13227C>T	p.A4409A	Substitution - coding silent	Kidney
COSM5048989	c.15706delG	p.E5236fs*3	Deletion - Frameshift	Oesophagus
COSM5047116	c.6181delC	p.L2061fs*1	Deletion - Frameshift	Oesophagus
COSM144611	c.11101C>T	p.Q3701*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM221132	c.15034C>T	p.R5012*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM3986979	c.4481T>C	p.L1494P	Substitution - Missense	Kidney
COSM5948804	c.8137delG	p.A2713fs*21	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4801580	c.9629A>T	p.Q3210L	Substitution - Missense	Liver
COSM5739637	c.9121C>T	p.Q3041*	Substitution - Nonsense	Small_intestine
COSM2006923	c.9672G>A	p.P3224P	Substitution - coding silent	Prostate
COSM5652048	c.8924T>G	p.L2975*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1685354	c.1940_1941insC	p.P648fs*2	Insertion - Frameshift	Large_intestine
COSM147497	c.2015-8C>T	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4170419	c.7635delA	p.Q2545fs*36	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4042389	c.5436C>T	p.S1812S	Substitution - coding silent	Stomach
COSM5888174	c.9698-5C>T	p.?	Unknown	Upper_aerodigestive_tract
COSM221062	c.14270G>A	p.R4757Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1361991	c.10770_10772delGCA	p.Q3593delQ	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM2007253	c.3349delG	p.A1117fs*27	Deletion - Frameshift	Soft_tissue
COSM4446508	c.15712-3C>G	p.?	Unknown	Skin
COSM4850457	c.6487G>T	p.E2163*	Substitution - Nonsense	Cervix
COSM1215198	c.6732G>T	p.Q2244H	Substitution - Missense	Large_intestine
COSM5415435	c.3694delG	p.V1232fs*1	Deletion - Frameshift	Prostate
COSM144611	c.11101C>T	p.Q3701*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM221085	c.6783delC	p.S2262fs*11	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM240680	c.11860_11875del16	p.A3954fs*49	Deletion - Frameshift	Prostate
COSM1476602	c.10484C>G	p.T3495R	Substitution - Missense	Breast
COSM2006775	c.12500G>T	p.G4167V	Substitution - Missense	Large_intestine
COSM4170423	c.7308_7309insT	p.A2437fs*17	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4976623	c.14648G>A	p.R4883Q	Substitution - Missense	Oesophagus
COSM5991644	c.?	p.V1281fs*48	Frameshift	Breast
COSM940072	c.3564delG	p.L1189fs*44	Deletion - Frameshift	Endometrium
COSM88090	c.15691C>T	p.R5231*	Substitution - Nonsense	Upper_aerodigestive_tract
COSM4384736	c.4712C>T	p.A1571V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM220680	c.12796C>T	p.R4266*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1299450	c.1709C>G	p.S570C	Substitution - Missense	Urinary_tract
COSM4829383	c.613C>A	p.L205I	Substitution - Missense	Cervix
COSM124453	c.7978C>A	p.P2660T	Substitution - Missense	Upper_aerodigestive_tract
COSM3461631	c.360C>T	p.F120F	Substitution - coding silent	Skin
COSM4042377	c.6393C>T	p.R2131R	Substitution - coding silent	Stomach
COSM5044352	c.5818_5819delCC	p.P1940fs*32	Deletion - Frameshift	Adrenal_gland
COSM5656242	c.174C>T	p.C58C	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM5948266	c.1632_1633insC	p.L545fs*6	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM215535	c.14333G>A	p.R4778H	Substitution - Missense	Bone
COSM302644	c.15550C>T	p.R5184*	Substitution - Nonsense	Central_nervous_system
COSM3461537	c.12034C>T	p.R4012*	Substitution - Nonsense	Skin
COSM2006671	c.14278C>T	p.R4760C	Substitution - Missense	Stomach
COSM4459965	c.10686C>T	p.S3562S	Substitution - coding silent	Skin
COSM940052	c.5528T>C	p.L1843P	Substitution - Missense	Endometrium
COSM3461569	c.6441C>T	p.S2147S	Substitution - coding silent	Skin

> Text Mining based Variations

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PMID	Variation	Cancer	Evidence
28608921	Mutation	Esophageal Squamous Cell Carcinoma	Metastatic ESCCs harbour frequent mutations of TP53, KMT2D, ZNF750, and IRF5.
28007623	Mutation	Small Cell Lung Carcinoma	We found that KMT2D mutation in human SCLC cell lines was associated with reduced lysine methyltransferase 2D protein levels and reduced monomethylation of histone H3 lysine 4, a mark associated with transcriptional enhancers.
27997699	Mutation	Endometrial Carcinoma	For the first time, we show that mutations in chromatin remodelling-related genes (KMT2D, KMT2C, SETD1B and BCOR) and in DNA-repair-related genes (BRCA1, BRCA2, RAD50 and CHD4) are frequent in this subtype of endometrial cancer.
27906449	Mutation	Skin Squamous Cell Carcinoma	The authors identified genes demonstrating higher mutation frequencies in metastatic cSCC compared with primary tumors, including the chromatin remodeling gene lysine methyltransferase 2D (KMT2D) and the classic skin tumor suppressor tumor protein p53 (TP53), which was found to be mutated in 54% of primary tumors compared with 85% of metastatic tumors (P<.0001).
27389057	Mutation	Follicular Lymphoma	The genes most frequently mutated in tFL included KMT2D (MLL2), CREBBP, EZH2, BCL2 and MEF2B.
24362818	Mutation	Follicular Lymphoma	Longitudinal analyses identified early driver mutations in chromatin regulator genes (CREBBP, EZH2 and KMT2D (MLL2)), whereas mutations in EBF1 and regulators of NF-κB signaling (MYD88 and TNFAIP3) were gained at transformation.
26032282	Mutation	Adrenal Gland Pheochromocytoma	Whole-exome sequencing defines the mutational landscape of pheochromocytoma and identifies KMT2D as a recurrently mutated gene.
26366712	Mutation	Diffuse Large B-Cell Lymphoma; Follicular Lymphoma	Here we show that FL- and DLBCL-associated KMT2D mutations impair KMT2D enzymatic activity, leading to diminished global H3K4 methylation in germinal-center (GC) B cells and DLBCL cells.
26437033	Mutation	Breast Fibroepithelial Neoplasm	Second, phyllodes tumors exhibited mutations in FLNA, SETD2 and KMT2D, suggesting a role in driving phyllodes tumor development.
26551667	Mutation	Cutaneous T-Cell Non-Hodgkin Lymphoma	Mutation analysis identified a broad spectrum of somatic mutations in key genes involved in epigenetic regulation (TET2, CREBBP, KMT2D (MLL2), KMT2C (MLL3), BRD9, SMARCA4 and CHD3) and signaling, including MAPK1, BRAF, CARD11 and PRKG1 mutations driving increased MAPK, NF-κB and NFAT activity upon T cell receptor stimulation.
26841698	Mutation	Intraocular Medulloepithelioma	Somatic mutations of DICER1 and KMT2D are frequent in intraocular medulloepitheliomas.
26900290	Mutation	Esophageal Squamous Cell Carcinoma	Mutations were validated in several genes, including in TP53, CDKN2A, FAT1, NOTCH1, PIK3CA, KMT2D and NFE2L2, which had been previously implicated in ESCC.
26980298	mutation (loss of function)	Thyroid Gland Undifferentiated (Anaplastic) Carcinoma	Of these, loss of function mutations of NF2, KMT2D, and PKHD1 were repeatedly seen in three samples (27%), two samples (18%), and two samples (18%), respectively. Using direct Sanger sequencing, two samples (18%) were also found with a RASAL1 mutation.
27203213	Mutation	Monomorphic T/NK-Cell Post-Transplant Lymphoproliferative Disorder	Mutations of epigenetic modifier genes (TET2, KMT2C, KMT2D, DNMT3A, ARID1B, ARID2, KDM6B, n=11). and inactivation of TP53 by mutation and/or deletion(n=6) were the most frequent alterations, seen across disease subtypes, followed by mutations of JAK/STAT pathway genes (n=5).
27389057	Mutation	Follicular Lymphoma	The genes most frequently mutated in tFL included KMT2D (MLL2), CREBBP, EZH2, BCL2 and MEF2B.
27749841	Mutation	Esophageal Squamous Cell Carcinoma	By contrast, the majority of truncal and clonal driver mutations occurred in tumor-suppressor genes, including TP53, KMT2D and ZNF750, among others.

Summary
Symbol	KMT2D
Name	lysine methyltransferase 2D
Aliases	CAGL114; TNRC21; trinucleotide repeat containing 21; myeloid/lymphoid or mixed-lineage leukemia 2; AAD10; KA ......
Location	12q13.12
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Post-translational modification (PTM)

> Post-translational modification (PTM)

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Filter By:

Uniprot ID	Position	Amino Acid	Description	Upstream Enzyme	Affected By Mutation	Amino Acid Sequence Variant
O14686	744	S	Phosphoserine	-	No	None detected
O14686	1151	S	Phosphoserine	-	No	None detected
O14686	1195	T	Phosphothreonine	-	No	None detected
O14686	1249	S	Phosphoserine	-	No	None detected
O14686	1267	T	Phosphothreonine	-	No	None detected
O14686	1270	S	Phosphoserine	-	No	None detected
O14686	1606	S	Phosphoserine	-	No	None detected
O14686	1671	S	Phosphoserine	-	Yes	p.S1671I (cancer: LUAD)
O14686	1820	S	Phosphoserine	-	No	None detected
O14686	1834	S	Phosphoserine	-	No	None detected
O14686	1843	T	Phosphothreonine	-	No	None detected
O14686	1865	T	Phosphothreonine	-	No	None detected
O14686	2239	S	Phosphoserine	-	No	None detected
O14686	2240	T	Phosphothreonine	-	No	None detected
O14686	2246	K	N6-acetyllysine	-	No	None detected
O14686	2260	S	Phosphoserine	-	No	None detected
O14686	2274	S	Phosphoserine	-	No	None detected
O14686	2309	S	Phosphoserine	-	No	None detected
O14686	2311	S	Phosphoserine	-	Yes	p.S2311F (cancer: BLCA)
O14686	2342	S	Phosphoserine	-	No	None detected
O14686	2535	R	Asymmetric dimethylarginine	-	No	None detected
O14686	2640	S	Phosphoserine	-	No	None detected
O14686	2836	R	Asymmetric dimethylarginine	-	No	None detected
O14686	3079	K	N6-acetyllysine	-	No	None detected
O14686	3130	S	Phosphoserine	-	No	None detected
O14686	3197	T	Phosphothreonine	-	No	None detected
O14686	3199	S	Phosphoserine	-	Yes	p.S3199N (cancer: UCEC)
O14686	3433	K	N6-acetyllysine	-	No	None detected
O14686	3727	R	Asymmetric dimethylarginine	-	Yes	p.R3727G (cancer: SKCM)
O14686	4198	R	Asymmetric dimethylarginine	-	Yes	p.R4198* (cancer: LUAD); p.R4198G (cancer: SKCM)
O14686	4215	S	Phosphoserine	-	No	None detected
O14686	4359	S	Phosphoserine	-	No	None detected
O14686	4465	K	N6-acetyllysine	-	No	None detected
O14686	4738	S	Phosphoserine	-	No	None detected
O14686	4776	K	N6-acetyllysine	-	Yes	p.K4776R (cancer: BLCA)
O14686	4822	S	Phosphoserine	-	No	None detected
O14686	4849	S	Phosphoserine	-	No	None detected

Summary
Symbol	KMT2D
Name	lysine methyltransferase 2D
Aliases	CAGL114; TNRC21; trinucleotide repeat containing 21; myeloid/lymphoid or mixed-lineage leukemia 2; AAD10; KA ......
Location	12q13.12
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Expression analysis in primary tumor tissue from TCGA > Expression level in cancer cell line from CCLE > Expression level in human normal tissue from HPA > Text mining based expression change

> The Cancer Genome Atlas (TCGA)

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Differential expression analysis for cancers with more than 10 normal samples

Cancer	Full Name	# N	# T	Median (N)	Median (T)	LogFC	Adj. P	Status
BLCA	Bladder urothelial carcinoma	19	408	6.476	6.355	-0.107	0.599	NS
BRCA	Breast invasive carcinoma	112	1100	7.039	6.863	-0.144	0.0333	NS
CESC	Cervical and endocervical cancers	3	306	6.326	6.45	NA	NA	NA
COAD	Colon adenocarcinoma	41	459	6.82	6.791	-0.093	0.503	NS
ESCA	Esophageal carcinoma	11	185	8.036	7.639	-0.26	0.213	NS
GBM	Glioblastoma multiforme	5	166	7.081	5.836	NA	NA	NA
HNSC	Head and Neck squamous cell carcinoma	44	522	6.689	6.546	-0.172	0.229	NS
KIRC	Kidney renal clear cell carcinoma	72	534	6.702	6.697	0.034	0.68	NS
KIRP	Kidney renal papillary cell carcinoma	32	291	6.758	6.509	-0.256	0.0688	NS
LAML	Acute Myeloid Leukemia	0	173	NA	9.334	NA	NA	NA
LGG	Brain Lower Grade Glioma	0	530	NA	6.749	NA	NA	NA
LIHC	Liver hepatocellular carcinoma	50	373	4.621	5.252	0.506	4.4e-06	NS
LUAD	Lung adenocarcinoma	59	517	7.032	6.956	-0.045	0.713	NS
LUSC	Lung squamous cell carcinoma	51	501	7.044	6.814	-0.281	0.0175	NS
OV	Ovarian serous cystadenocarcinoma	0	307	NA	7.202	NA	NA	NA
PAAD	Pancreatic adenocarcinoma	4	179	6.514	6.554	NA	NA	NA
PCPG	Pheochromocytoma and Paraganglioma	3	184	6.279	6.937	NA	NA	NA
PRAD	Prostate adenocarcinoma	52	498	6.504	6.65	0.099	0.389	NS
READ	Rectum adenocarcinoma	10	167	6.664	6.789	0.257	0.4	NS
SARC	Sarcoma	2	263	5.109	5.97	NA	NA	NA
SKCM	Skin Cutaneous Melanoma	1	472	5.978	6.844	NA	NA	NA
STAD	Stomach adenocarcinoma	35	415	7.436	7.529	0.194	0.13	NS
TGCT	Testicular Germ Cell Tumors	0	156	NA	7.289	NA	NA	NA
THCA	Thyroid carcinoma	59	509	6.992	6.703	-0.241	0.00146	NS
THYM	Thymoma	2	120	7.466	6.45	NA	NA	NA
UCEC	Uterine Corpus Endometrial Carcinoma	35	546	6.685	6.431	-0.251	0.0295	NS

> Cancer Cell Line Encyclopedia (CCLE)

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Tissue	Cell Line	Expression Level (Microarray)
Autonomic ganglia	CHP126	7.5
Autonomic ganglia	CHP212	6.8
Autonomic ganglia	IMR32	7.6
Autonomic ganglia	KELLY	6.8
Autonomic ganglia	KPNRTBM1	7.4
Autonomic ganglia	KPNSI9S	6.6
Autonomic ganglia	KPNYN	7.3
Autonomic ganglia	MHHNB11	6.7
Autonomic ganglia	NB1	7.2
Autonomic ganglia	NH6	6.8
Autonomic ganglia	SHSY5Y	6.9
Autonomic ganglia	SIMA	7.9
Autonomic ganglia	SKNAS	7.3
Autonomic ganglia	SKNBE2	7.4
Autonomic ganglia	SKNDZ	7.3
Autonomic ganglia	SKNFI	7.5
Autonomic ganglia	SKNSH	6.6
Biliary tract	HUCCT1	6.5
Biliary tract	HUH28	6.4
Biliary tract	SNU1079	7
Biliary tract	SNU1196	6.9
Biliary tract	SNU245	6.9
Biliary tract	SNU308	7.5
Biliary tract	SNU478	6.8
Bone	143B	6.8
Bone	A673	7.2
Bone	CADOES1	7.3
Bone	CAL78	6.8
Bone	G292CLONEA141B1	6.6
Bone	HOS	6.9
Bone	HS706T	6.5
Bone	HS737T	6.6
Bone	HS819T	6.5
Bone	HS821T	6.5
Bone	HS822T	6.3
Bone	HS863T	6.7
Bone	HS870T	6.1
Bone	HS888T	6.7
Bone	MG63	6.6
Bone	MHHES1	8.2
Bone	OUMS27	6.4
Bone	RDES	7.7
Bone	SJSA1	7
Bone	SKES1	7.7
Bone	SKNMC	7.3
Bone	SW1353	6.8
Bone	T173	6.5
Bone	TC71	7.2
Bone	U2OS	6.7
Breast	AU565	7
Breast	BT20	6.9
Breast	BT474	6.9
Breast	BT483	7.8
Breast	BT549	6.9
Breast	CAL120	6.7
Breast	CAL148	7.4
Breast	CAL51	7.1
Breast	CAL851	6.3
Breast	CAMA1	6.9
Breast	DU4475	7
Breast	EFM192A	6.9
Breast	EFM19	6.9
Breast	EVSAT	6.8
Breast	HCC1143	6.9
Breast	HCC1187	7.2
Breast	HCC1395	6.7
Breast	HCC1419	6.8
Breast	HCC1428	7.1
Breast	HCC1500	6.8
Breast	HCC1569	7.1
Breast	HCC1599	7
Breast	HCC1806	6.6
Breast	HCC1937	6.6
Breast	HCC1954	6.5
Breast	HCC202	7
Breast	HCC2157	6.6
Breast	HCC2218	6.8
Breast	HCC38	6.6
Breast	HCC70	6.5
Breast	HDQP1	6.5
Breast	HMC18	6.5
Breast	HS274T	6.7
Breast	HS281T	6.6
Breast	HS343T	6.6
Breast	HS578T	6.5
Breast	HS606T	6.5
Breast	HS739T	6.5
Breast	HS742T	6.4
Breast	JIMT1	7
Breast	KPL1	7.1
Breast	MCF7	7.1
Breast	MDAMB134VI	7.2
Breast	MDAMB157	6.5
Breast	MDAMB175VII	6.8
Breast	MDAMB231	6.6
Breast	MDAMB361	7.1
Breast	MDAMB415	7
Breast	MDAMB436	6.4
Breast	MDAMB453	6.9
Breast	MDAMB468	6.7
Breast	SKBR3	7.4
Breast	T47D	7.1
Breast	UACC812	7.7
Breast	UACC893	7.2
Breast	YMB1	6.9
Breast	ZR751	6.5
Breast	ZR7530	7.4
Central nervous system	1321N1	6.2
Central nervous system	42MGBA	6.4
Central nervous system	8MGBA	6.2
Central nervous system	A172	6.7
Central nervous system	AM38	6.9
Central nervous system	BECKER	6.4
Central nervous system	CAS1	6.7
Central nervous system	CCFSTTG1	6.6
Central nervous system	D283MED	7.6
Central nervous system	D341MED	7.7
Central nervous system	DAOY	6.9
Central nervous system	DBTRG05MG	6.4
Central nervous system	DKMG	6.9
Central nervous system	GAMG	6.5
Central nervous system	GB1	7
Central nervous system	GI1	6.8
Central nervous system	GMS10	6.2
Central nervous system	GOS3	6.7
Central nervous system	H4	6.9
Central nervous system	HS683	6.8
Central nervous system	KALS1	6.5
Central nervous system	KG1C	6.5
Central nervous system	KNS42	6.8
Central nervous system	KNS60	6.5
Central nervous system	KNS81	6.4
Central nervous system	KS1	6.4
Central nervous system	LN18	6.5
Central nervous system	LN229	6.7
Central nervous system	M059K	6.3
Central nervous system	MOGGCCM	6.6
Central nervous system	MOGGUVW	6.6
Central nervous system	NMCG1	6.6
Central nervous system	ONS76	6.5
Central nervous system	SF126	6.2
Central nervous system	SF295	6.7
Central nervous system	SNB19	6.1
Central nervous system	SNU1105	6.6
Central nervous system	SNU201	6.6
Central nervous system	SNU466	6.8
Central nervous system	SNU489	6.9
Central nervous system	SNU626	7
Central nervous system	SNU738	6.9
Central nervous system	SW1088	6.6
Central nervous system	SW1783	6.2
Central nervous system	T98G	6.5
Central nervous system	TM31	6.8
Central nervous system	U118MG	7.1
Central nervous system	U138MG	6.5
Central nervous system	U251MG	6.5
Central nervous system	U87MG	7
Central nervous system	YH13	6.8
Central nervous system	YKG1	6.7
Endometrium	AN3CA	7.3
Endometrium	COLO684	7.5
Endometrium	EFE184	6.7
Endometrium	EN	6.7
Endometrium	ESS1	6.6
Endometrium	HEC108	6.9
Endometrium	HEC151	6.9
Endometrium	HEC1A	6.4
Endometrium	HEC1B	6.9
Endometrium	HEC251	6.5
Endometrium	HEC265	6.7
Endometrium	HEC50B	6.7
Endometrium	HEC59	7.1
Endometrium	HEC6	6.6
Endometrium	ISHIKAWAHERAKLIO02ER	7.2
Endometrium	JHUEM1	6.7
Endometrium	JHUEM2	6.5
Endometrium	JHUEM3	6.6
Endometrium	KLE	6.4
Endometrium	MFE280	6.7
Endometrium	MFE296	7
Endometrium	MFE319	6.8
Endometrium	RL952	6.5
Endometrium	SNGM	6.9
Endometrium	SNU1077	6.9
Endometrium	SNU685	7.2
Endometrium	TEN	7
Haematopoietic and lymphoid	697	7.8
Haematopoietic and lymphoid	A3KAW	6.5
Haematopoietic and lymphoid	A4FUK	7.6
Haematopoietic and lymphoid	ALLSIL	7.9
Haematopoietic and lymphoid	AML193	7.4
Haematopoietic and lymphoid	AMO1	7.4
Haematopoietic and lymphoid	BCP1	7.5
Haematopoietic and lymphoid	BDCM	6.7
Haematopoietic and lymphoid	BL41	7.6
Haematopoietic and lymphoid	BL70	7.3
Haematopoietic and lymphoid	BV173	7.5
Haematopoietic and lymphoid	CA46	7.1
Haematopoietic and lymphoid	CI1	6.9
Haematopoietic and lymphoid	CMK115	7.3
Haematopoietic and lymphoid	CMK86	8.1
Haematopoietic and lymphoid	CMK	7.4
Haematopoietic and lymphoid	CMLT1	7.5
Haematopoietic and lymphoid	COLO775	7.5
Haematopoietic and lymphoid	DAUDI	7.5
Haematopoietic and lymphoid	DB	7.1
Haematopoietic and lymphoid	DEL	7.1
Haematopoietic and lymphoid	DND41	7.5
Haematopoietic and lymphoid	DOHH2	7.7
Haematopoietic and lymphoid	EB1	7.1
Haematopoietic and lymphoid	EB2	7.1
Haematopoietic and lymphoid	EHEB	7
Haematopoietic and lymphoid	EJM	6.7
Haematopoietic and lymphoid	EM2	7.7
Haematopoietic and lymphoid	EOL1	7.7
Haematopoietic and lymphoid	F36P	8.2
Haematopoietic and lymphoid	GA10	7.6
Haematopoietic and lymphoid	GDM1	7.6
Haematopoietic and lymphoid	GRANTA519	7.4
Haematopoietic and lymphoid	HDLM2	6.8
Haematopoietic and lymphoid	HDMYZ	6.4
Haematopoietic and lymphoid	HEL9217	7.1
Haematopoietic and lymphoid	HEL	7.6
Haematopoietic and lymphoid	HH	7.3
Haematopoietic and lymphoid	HL60	8.5
Haematopoietic and lymphoid	HPBALL	7.5
Haematopoietic and lymphoid	HS604T	6.8
Haematopoietic and lymphoid	HS611T	6.6
Haematopoietic and lymphoid	HS616T	6.6
Haematopoietic and lymphoid	HS751T	6.8
Haematopoietic and lymphoid	HT	7.2
Haematopoietic and lymphoid	HTK	7.5
Haematopoietic and lymphoid	HUNS1	6.8
Haematopoietic and lymphoid	HUT102	6.7
Haematopoietic and lymphoid	HUT78	6.8
Haematopoietic and lymphoid	JEKO1	7.9
Haematopoietic and lymphoid	JK1	7.2
Haematopoietic and lymphoid	JM1	8.6
Haematopoietic and lymphoid	JURKAT	7.6
Haematopoietic and lymphoid	JURLMK1	7
Haematopoietic and lymphoid	JVM2	7
Haematopoietic and lymphoid	JVM3	7.6
Haematopoietic and lymphoid	K562	7.3
Haematopoietic and lymphoid	KARPAS299	7.3
Haematopoietic and lymphoid	KARPAS422	7.4
Haematopoietic and lymphoid	KARPAS620	7.3
Haematopoietic and lymphoid	KASUMI1	8.1
Haematopoietic and lymphoid	KASUMI2	7.8
Haematopoietic and lymphoid	KASUMI6	7.8
Haematopoietic and lymphoid	KCL22	7.8
Haematopoietic and lymphoid	KE37	7.7
Haematopoietic and lymphoid	KE97	7
Haematopoietic and lymphoid	KG1	7.3
Haematopoietic and lymphoid	KHM1B	7
Haematopoietic and lymphoid	KIJK	6.3
Haematopoietic and lymphoid	KMH2	7.5
Haematopoietic and lymphoid	KMM1	7.2
Haematopoietic and lymphoid	KMS11	7.1
Haematopoietic and lymphoid	KMS12BM	6.9
Haematopoietic and lymphoid	KMS18	7.5
Haematopoietic and lymphoid	KMS20	6.8
Haematopoietic and lymphoid	KMS21BM	6.8
Haematopoietic and lymphoid	KMS26	6.4
Haematopoietic and lymphoid	KMS27	7
Haematopoietic and lymphoid	KMS28BM	6.5
Haematopoietic and lymphoid	KMS34	7.3
Haematopoietic and lymphoid	KO52	7.6
Haematopoietic and lymphoid	KOPN8	7.8
Haematopoietic and lymphoid	KU812	7
Haematopoietic and lymphoid	KYO1	7.1
Haematopoietic and lymphoid	L1236	7.3
Haematopoietic and lymphoid	L363	7.4
Haematopoietic and lymphoid	L428	7.1
Haematopoietic and lymphoid	L540	6.9
Haematopoietic and lymphoid	LAMA84	7.6
Haematopoietic and lymphoid	LOUCY	7.5
Haematopoietic and lymphoid	LP1	6.7
Haematopoietic and lymphoid	M07E	7.8
Haematopoietic and lymphoid	MC116	7.1
Haematopoietic and lymphoid	ME1	7.3
Haematopoietic and lymphoid	MEC1	6.4
Haematopoietic and lymphoid	MEC2	7.4
Haematopoietic and lymphoid	MEG01	6.8
Haematopoietic and lymphoid	MHHCALL2	7.5
Haematopoietic and lymphoid	MHHCALL3	7.8
Haematopoietic and lymphoid	MHHCALL4	7.8
Haematopoietic and lymphoid	MINO	7.2
Haematopoietic and lymphoid	MJ	7.3
Haematopoietic and lymphoid	MM1S	6.8
Haematopoietic and lymphoid	MOLM13	7.6
Haematopoietic and lymphoid	MOLM16	7.6
Haematopoietic and lymphoid	MOLM6	7.7
Haematopoietic and lymphoid	MOLP2	6.8
Haematopoietic and lymphoid	MOLP8	6.8
Haematopoietic and lymphoid	MOLT13	7.4
Haematopoietic and lymphoid	MOLT16	7.6
Haematopoietic and lymphoid	MOLT4	7.2
Haematopoietic and lymphoid	MONOMAC1	7.8
Haematopoietic and lymphoid	MONOMAC6	7.4
Haematopoietic and lymphoid	MOTN1	7.8
Haematopoietic and lymphoid	MUTZ5	7.7
Haematopoietic and lymphoid	MV411	8
Haematopoietic and lymphoid	NALM19	7.6
Haematopoietic and lymphoid	NALM1	8
Haematopoietic and lymphoid	NALM6	8.2
Haematopoietic and lymphoid	NAMALWA	8
Haematopoietic and lymphoid	NB4	8
Haematopoietic and lymphoid	NCIH929	6.4
Haematopoietic and lymphoid	NCO2	6.9
Haematopoietic and lymphoid	NOMO1	7
Haematopoietic and lymphoid	NUDHL1	9.2
Haematopoietic and lymphoid	NUDUL1	7.5
Haematopoietic and lymphoid	OCIAML2	7.5
Haematopoietic and lymphoid	OCIAML3	7.5
Haematopoietic and lymphoid	OCIAML5	7.4
Haematopoietic and lymphoid	OCILY10	6.9
Haematopoietic and lymphoid	OCILY19	7.8
Haematopoietic and lymphoid	OCILY3	6.6
Haematopoietic and lymphoid	OCIM1	7.4
Haematopoietic and lymphoid	OPM2	7
Haematopoietic and lymphoid	P12ICHIKAWA	7.8
Haematopoietic and lymphoid	P31FUJ	7
Haematopoietic and lymphoid	P3HR1	7.4
Haematopoietic and lymphoid	PCM6	6.7
Haematopoietic and lymphoid	PEER	7.6
Haematopoietic and lymphoid	PF382	7.8
Haematopoietic and lymphoid	PFEIFFER	6.4
Haematopoietic and lymphoid	PL21	7.4
Haematopoietic and lymphoid	RAJI	7.1
Haematopoietic and lymphoid	RCHACV	7.4
Haematopoietic and lymphoid	REC1	7.3
Haematopoietic and lymphoid	REH	7.5
Haematopoietic and lymphoid	RI1	7.5
Haematopoietic and lymphoid	RL	7.1
Haematopoietic and lymphoid	RPMI8226	6.7
Haematopoietic and lymphoid	RPMI8402	7.7
Haematopoietic and lymphoid	RS411	7.5
Haematopoietic and lymphoid	SEM	7.1
Haematopoietic and lymphoid	SET2	7.4
Haematopoietic and lymphoid	SIGM5	8
Haematopoietic and lymphoid	SKM1	6.9
Haematopoietic and lymphoid	SKMM2	7
Haematopoietic and lymphoid	SR786	7.1
Haematopoietic and lymphoid	ST486	7.3
Haematopoietic and lymphoid	SUDHL10	7.2
Haematopoietic and lymphoid	SUDHL1	7.4
Haematopoietic and lymphoid	SUDHL4	7.8
Haematopoietic and lymphoid	SUDHL5	7.1
Haematopoietic and lymphoid	SUDHL6	7.2
Haematopoietic and lymphoid	SUDHL8	8.4
Haematopoietic and lymphoid	SUPB15	7.2
Haematopoietic and lymphoid	SUPHD1	6.9
Haematopoietic and lymphoid	SUPM2	7.1
Haematopoietic and lymphoid	SUPT11	7.6
Haematopoietic and lymphoid	SUPT1	7.2
Haematopoietic and lymphoid	TALL1	7.5
Haematopoietic and lymphoid	TF1	7.4
Haematopoietic and lymphoid	THP1	6.5
Haematopoietic and lymphoid	TO175T	6.7
Haematopoietic and lymphoid	TOLEDO	7.5
Haematopoietic and lymphoid	U266B1	6.9
Haematopoietic and lymphoid	U937	7.3
Haematopoietic and lymphoid	UT7	7.7
Haematopoietic and lymphoid	WSUDLCL2	7.1
Kidney	769P	6.8
Kidney	786O	6.4
Kidney	A498	6.7
Kidney	A704	6.9
Kidney	ACHN	7
Kidney	BFTC909	6.7
Kidney	CAKI1	6.7
Kidney	CAKI2	6.3
Kidney	CAL54	7.3
Kidney	KMRC1	6.2
Kidney	KMRC20	6.4
Kidney	KMRC2	6.2
Kidney	KMRC3	6.7
Kidney	OSRC2	6.9
Kidney	RCC10RGB	6.8
Kidney	SNU1272	6.6
Kidney	SNU349	7.2
Kidney	TUHR10TKB	7
Kidney	TUHR14TKB	6.6
Kidney	TUHR4TKB	7
Kidney	VMRCRCW	6.8
Kidney	VMRCRCZ	6.7
Large intestine	C2BBE1	7.7
Large intestine	CCK81	6.9
Large intestine	CL11	7
Large intestine	CL14	7.2
Large intestine	CL34	6.9
Large intestine	CL40	7.2
Large intestine	COLO205	6.5
Large intestine	COLO320	7.7
Large intestine	COLO678	7.7
Large intestine	CW2	6.8
Large intestine	DLD1	6.6
Large intestine	GP2D	7.1
Large intestine	HCC56	7.2
Large intestine	HCT116	7
Large intestine	HCT15	6.9
Large intestine	HS675T	6.5
Large intestine	HS698T	6.7
Large intestine	HT115	7.6
Large intestine	HT29	7.4
Large intestine	HT55	7.1
Large intestine	KM12	6.9
Large intestine	LOVO	7.2
Large intestine	LS1034	6.8
Large intestine	LS123	6.8
Large intestine	LS180	6.9
Large intestine	LS411N	6.8
Large intestine	LS513	7.2
Large intestine	MDST8	7.1
Large intestine	NCIH508	7.1
Large intestine	NCIH716	6.9
Large intestine	NCIH747	6.6
Large intestine	OUMS23	6.8
Large intestine	RCM1	7
Large intestine	RKO	7
Large intestine	SKCO1	7.6
Large intestine	SNU1040	6.7
Large intestine	SNU1197	6.8
Large intestine	SNU175	7.1
Large intestine	SNU283	7.2
Large intestine	SNU407	6.6
Large intestine	SNU503	6.9
Large intestine	SNU61	6.9
Large intestine	SNU81	7.8
Large intestine	SNUC1	7.1
Large intestine	SNUC2A	6.6
Large intestine	SNUC4	6.8
Large intestine	SNUC5	7.1
Large intestine	SW1116	7.1
Large intestine	SW1417	6.8
Large intestine	SW1463	7.4
Large intestine	SW403	6.9
Large intestine	SW480	5.9
Large intestine	SW48	7
Large intestine	SW620	7.2
Large intestine	SW837	7.3
Large intestine	SW948	7.1
Large intestine	T84	7.3
Liver	ALEXANDERCELLS	6.9
Liver	C3A	6.8
Liver	HEP3B217	7.1
Liver	HEPG2	6.7
Liver	HLE	6.7
Liver	HLF	6.6
Liver	HUH1	6.8
Liver	HUH6	7.5
Liver	HUH7	6.6
Liver	JHH1	6.4
Liver	JHH2	6.5
Liver	JHH4	7.1
Liver	JHH5	7.2
Liver	JHH6	7.1
Liver	JHH7	7.2
Liver	LI7	7
Liver	PLCPRF5	6.8
Liver	SKHEP1	7.2
Liver	SNU182	7.2
Liver	SNU387	7.1
Liver	SNU398	7.7
Liver	SNU423	6.8
Liver	SNU449	6.6
Liver	SNU475	7
Liver	SNU761	6.6
Liver	SNU878	6.8
Liver	SNU886	7.3
Lung	A549	6.7
Lung	ABC1	7
Lung	BEN	7.2
Lung	CAL12T	6.6
Lung	CALU1	6.8
Lung	CALU3	6.4
Lung	CALU6	6.9
Lung	CHAGOK1	7
Lung	COLO668	7
Lung	COLO699	7.2
Lung	CORL105	6.3
Lung	CORL23	6.9
Lung	CORL24	7.1
Lung	CORL279	7.4
Lung	CORL311	7.8
Lung	CORL47	7.4
Lung	CORL51	7.1
Lung	CORL88	7.2
Lung	CORL95	7.2
Lung	CPCN	7.1
Lung	DMS114	6.9
Lung	DMS153	6.8
Lung	DMS273	7
Lung	DMS454	7.4
Lung	DMS53	6.8
Lung	DMS79	6.9
Lung	DV90	6.8
Lung	EBC1	7
Lung	EPLC272H	6.8
Lung	HARA	7.1
Lung	HCC1171	6.8
Lung	HCC1195	6.9
Lung	HCC15	7.1
Lung	HCC2279	6.3
Lung	HCC2935	6.7
Lung	HCC33	6.7
Lung	HCC366	6.7
Lung	HCC4006	6.4
Lung	HCC44	7
Lung	HCC78	6.8
Lung	HCC827	6.9
Lung	HCC95	6.9
Lung	HLC1	6.9
Lung	HLFA	6.5
Lung	HS229T	6.4
Lung	HS618T	6.5
Lung	IALM	7.5
Lung	KNS62	6.8
Lung	LC1F	7.4
Lung	LC1SQSF	7.3
Lung	LCLC103H	6.5
Lung	LCLC97TM1	7.8
Lung	LK2	6.9
Lung	LOUNH91	6.5
Lung	LU65	6.6
Lung	LU99	7
Lung	LUDLU1	7.1
Lung	LXF289	7
Lung	MORCPR	7.7
Lung	NCIH1048	7.3
Lung	NCIH1092	7.2
Lung	NCIH1105	6.6
Lung	NCIH1155	6.6
Lung	NCIH1184	7.1
Lung	NCIH1299	7.4
Lung	NCIH1339	6.6
Lung	NCIH1341	6.4
Lung	NCIH1355	7.4
Lung	NCIH1373	7.4
Lung	NCIH1385	8
Lung	NCIH1395	6.4
Lung	NCIH1435	7.1
Lung	NCIH1436	7.4
Lung	NCIH1437	7.6
Lung	NCIH146	6.7
Lung	NCIH1563	6.4
Lung	NCIH1568	7.2
Lung	NCIH1573	7
Lung	NCIH1581	7.5
Lung	NCIH1618	7.3
Lung	NCIH1623	7.8
Lung	NCIH1648	6.8
Lung	NCIH1650	6.9
Lung	NCIH1651	6.8
Lung	NCIH1666	6.9
Lung	NCIH1693	6.6
Lung	NCIH1694	6.8
Lung	NCIH1703	6.7
Lung	NCIH1734	7
Lung	NCIH1755	6.6
Lung	NCIH1781	7.1
Lung	NCIH1792	6.7
Lung	NCIH1793	6.9
Lung	NCIH1836	7.6
Lung	NCIH1838	6.2
Lung	NCIH1869	7
Lung	NCIH1876	7.3
Lung	NCIH1915	6.5
Lung	NCIH1930	6.7
Lung	NCIH1944	6.9
Lung	NCIH1963	7.3
Lung	NCIH196	6.6
Lung	NCIH1975	6.7
Lung	NCIH2009	6.9
Lung	NCIH2023	6.7
Lung	NCIH2029	6.9
Lung	NCIH2030	6.8
Lung	NCIH2066	7.1
Lung	NCIH2081	7.4
Lung	NCIH2085	6.3
Lung	NCIH2087	6.8
Lung	NCIH209	7.2
Lung	NCIH2106	7.1
Lung	NCIH2110	7.5
Lung	NCIH211	6.7
Lung	NCIH2122	6.4
Lung	NCIH2126	7.3
Lung	NCIH2141	7.8
Lung	NCIH2170	7
Lung	NCIH2171	7.1
Lung	NCIH2172	7
Lung	NCIH2196	7.1
Lung	NCIH2227	7
Lung	NCIH2228	6.4
Lung	NCIH226	6.4
Lung	NCIH2286	7.3
Lung	NCIH2291	6.6
Lung	NCIH2342	7.4
Lung	NCIH2347	6.7
Lung	NCIH23	7.2
Lung	NCIH2405	7
Lung	NCIH2444	6.9
Lung	NCIH292	7.1
Lung	NCIH322	6.6
Lung	NCIH3255	7.6
Lung	NCIH358	7.1
Lung	NCIH441	6.7
Lung	NCIH446	6.6
Lung	NCIH460	6.8
Lung	NCIH510	7
Lung	NCIH520	7.1
Lung	NCIH522	6.9
Lung	NCIH524	7
Lung	NCIH526	7.5
Lung	NCIH596	6.3
Lung	NCIH647	6.3
Lung	NCIH650	7.3
Lung	NCIH661	6.8
Lung	NCIH69	7.1
Lung	NCIH727	6.7
Lung	NCIH810	7.4
Lung	NCIH82	7.5
Lung	NCIH838	6.6
Lung	NCIH841	6.6
Lung	NCIH854	7
Lung	NCIH889	7.2
Lung	PC14	7.2
Lung	RERFLCAD1	6.9
Lung	RERFLCAD2	6
Lung	RERFLCAI	6.8
Lung	RERFLCKJ	6.9
Lung	RERFLCMS	6.8
Lung	RERFLCSQ1	6.3
Lung	SBC5	7
Lung	SCLC21H	7.3
Lung	SHP77	6.9
Lung	SKLU1	7
Lung	SKMES1	6.1
Lung	SQ1	7.1
Lung	SW1271	7.3
Lung	SW1573	7.5
Lung	SW900	7
Lung	VMRCLCD	8.1
Lung	VMRCLCP	7.1
Oesophagus	COLO680N	6.9
Oesophagus	ECGI10	7.3
Oesophagus	KYSE140	7.5
Oesophagus	KYSE150	7.1
Oesophagus	KYSE180	6.8
Oesophagus	KYSE270	6.9
Oesophagus	KYSE30	7.4
Oesophagus	KYSE410	7
Oesophagus	KYSE450	6.8
Oesophagus	KYSE510	7
Oesophagus	KYSE520	6.9
Oesophagus	KYSE70	6.9
Oesophagus	OE19	8.5
Oesophagus	OE33	6.4
Oesophagus	TE10	7.3
Oesophagus	TE11	6.9
Oesophagus	TE14	7.4
Oesophagus	TE15	6.7
Oesophagus	TE1	6.2
Oesophagus	TE4	6.9
Oesophagus	TE5	6.9
Oesophagus	TE6	6.5
Oesophagus	TE8	6.8
Oesophagus	TE9	6.9
Oesophagus	TT	6.7
Ovary	59M	7.3
Ovary	A2780	7.2
Ovary	CAOV3	6.6
Ovary	CAOV4	6.8
Ovary	COLO704	6.9
Ovary	COV318	6.3
Ovary	COV362	6.8
Ovary	COV434	7.2
Ovary	COV504	6.4
Ovary	COV644	7
Ovary	EFO21	7.3
Ovary	EFO27	6.6
Ovary	ES2	6.5
Ovary	FUOV1	6.6
Ovary	HEYA8	5.8
Ovary	HS571T	6.6
Ovary	IGROV1	6.8
Ovary	JHOC5	6.4
Ovary	JHOM1	6.7
Ovary	JHOM2B	7.1
Ovary	JHOS2	6.5
Ovary	JHOS4	6.6
Ovary	KURAMOCHI	7.2
Ovary	MCAS	6.4
Ovary	NIHOVCAR3	7.5
Ovary	OAW28	7
Ovary	OAW42	7.1
Ovary	OC314	6.7
Ovary	OC316	6.7
Ovary	ONCODG1	7.4
Ovary	OV56	6.5
Ovary	OV7	6.9
Ovary	OV90	7.7
Ovary	OVCAR4	6.8
Ovary	OVCAR8	7
Ovary	OVISE	6.6
Ovary	OVK18	7.1
Ovary	OVKATE	6.5
Ovary	OVMANA	6.8
Ovary	OVSAHO	6
Ovary	OVTOKO	6.4
Ovary	RMGI	6.7
Ovary	RMUGS	6.8
Ovary	SKOV3	6.9
Ovary	SNU119	6.4
Ovary	SNU840	6.9
Ovary	SNU8	7
Ovary	TOV112D	7.5
Ovary	TOV21G	6.5
Ovary	TYKNU	6.8
Pancreas	ASPC1	7.1
Pancreas	BXPC3	6.9
Pancreas	CAPAN1	7.2
Pancreas	CAPAN2	6.6
Pancreas	CFPAC1	7.1
Pancreas	DANG	6.5
Pancreas	HPAC	7.5
Pancreas	HPAFII	7.4
Pancreas	HS766T	6.6
Pancreas	HUPT3	6.4
Pancreas	HUPT4	6.6
Pancreas	KCIMOH1	6.7
Pancreas	KLM1	7.7
Pancreas	KP2	6.4
Pancreas	KP3	6.6
Pancreas	KP4	6.9
Pancreas	L33	6.6
Pancreas	MIAPACA2	7
Pancreas	PANC0203	7.2
Pancreas	PANC0213	7.5
Pancreas	PANC0327	6.9
Pancreas	PANC0403	6.4
Pancreas	PANC0504	6.8
Pancreas	PANC0813	6.9
Pancreas	PANC1005	7.1
Pancreas	PANC1	6.6
Pancreas	PATU8902	7.3
Pancreas	PATU8988S	6.7
Pancreas	PATU8988T	7.1
Pancreas	PK1	6.9
Pancreas	PK45H	6.8
Pancreas	PK59	6.9
Pancreas	PL45	6.9
Pancreas	PSN1	7.2
Pancreas	QGP1	6.8
Pancreas	SNU213	6.6
Pancreas	SNU324	6.8
Pancreas	SNU410	7.2
Pancreas	SU8686	6.6
Pancreas	SUIT2	7.3
Pancreas	SW1990	6.4
Pancreas	T3M4	6.6
Pancreas	TCCPAN2	7.1
Pancreas	YAPC	7.1
Pleura	ACCMESO1	6.2
Pleura	DM3	6.8
Pleura	ISTMES1	6.8
Pleura	ISTMES2	6.8
Pleura	JL1	6.7
Pleura	MPP89	6.3
Pleura	MSTO211H	6.8
Pleura	NCIH2052	6.7
Pleura	NCIH2452	6.7
Pleura	NCIH28	6.8
Prostate	22RV1	7.3
Prostate	DU145	6.4
Prostate	LNCAPCLONEFGC	6.8
Prostate	MDAPCA2B	7.2
Prostate	NCIH660	6.5
Prostate	PC3	6.5
Prostate	VCAP	6.9
Salivary gland	A253	6.9
Salivary gland	YD15	6.4
Skin	A101D	7.1
Skin	A2058	7.2
Skin	A375	6.9
Skin	C32	6.8
Skin	CHL1	6.9
Skin	CJM	7.3
Skin	COLO679	6.9
Skin	COLO741	6.9
Skin	COLO783	6.5
Skin	COLO792	7.7
Skin	COLO800	6.7
Skin	COLO818	7
Skin	COLO829	6.6
Skin	COLO849	7
Skin	G361	6.7
Skin	GRM	7.7
Skin	HMCB	6.7
Skin	HS294T	7
Skin	HS600T	6.4
Skin	HS688AT	6.2
Skin	HS695T	6.5
Skin	HS839T	6.4
Skin	HS852T	6.8
Skin	HS895T	6.2
Skin	HS934T	6.6
Skin	HS936T	6.8
Skin	HS939T	6.7
Skin	HS940T	6.6
Skin	HS944T	6.6
Skin	HT144	6.8
Skin	IGR1	7.3
Skin	IGR37	6.6
Skin	IGR39	6
Skin	IPC298	6.5
Skin	K029AX	6.9
Skin	LOXIMVI	7.6
Skin	MALME3M	6.5
Skin	MDAMB435S	6.5
Skin	MELHO	6.7
Skin	MELJUSO	6.8
Skin	MEWO	7
Skin	RPMI7951	6.4
Skin	RVH421	6.6
Skin	SH4	7.1
Skin	SKMEL1	6.4
Skin	SKMEL24	6.5
Skin	SKMEL28	6.4
Skin	SKMEL2	6.6
Skin	SKMEL30	6.7
Skin	SKMEL31	6.9
Skin	SKMEL3	6.5
Skin	SKMEL5	7.1
Skin	UACC257	6.9
Skin	UACC62	6.8
Skin	WM115	6.5
Skin	WM1799	7.1
Skin	WM2664	6.7
Skin	WM793	6.6
Skin	WM88	6.9
Skin	WM983B	6.8
Small intestine	HUTU80	7.2
Soft tissue	A204	6.9
Soft tissue	G401	7.1
Soft tissue	G402	6.8
Soft tissue	GCT	7.2
Soft tissue	HS729	6.7
Soft tissue	HT1080	6.5
Soft tissue	KYM1	7.2
Soft tissue	MESSA	6.9
Soft tissue	RD	6.9
Soft tissue	RH30	7.4
Soft tissue	RH41	7.6
Soft tissue	RKN	6.6
Soft tissue	S117	6.9
Soft tissue	SJRH30	7.7
Soft tissue	SKLMS1	6.8
Soft tissue	SKUT1	6.8
Soft tissue	TE125T	6.3
Soft tissue	TE159T	6.7
Soft tissue	TE441T	7.5
Soft tissue	TE617T	6.9
Stomach	2313287	7
Stomach	AGS	6.3
Stomach	AZ521	7.2
Stomach	ECC10	7.2
Stomach	ECC12	6.9
Stomach	FU97	7.2
Stomach	GCIY	6.6
Stomach	GSS	7.2
Stomach	GSU	7.1
Stomach	HGC27	7.1
Stomach	HS746T	6.4
Stomach	HUG1N	6.8
Stomach	IM95	7
Stomach	KATOIII	6.6
Stomach	KE39	6.7
Stomach	LMSU	6.8
Stomach	MKN1	6.6
Stomach	MKN45	7.3
Stomach	MKN74	6.3
Stomach	MKN7	5.9
Stomach	NCCSTCK140	7.3
Stomach	NCIN87	7.1
Stomach	NUGC2	7
Stomach	NUGC3	6.2
Stomach	NUGC4	7.1
Stomach	OCUM1	6.8
Stomach	RERFGC1B	6.9
Stomach	SH10TC	6.7
Stomach	SNU16	7.5
Stomach	SNU1	7.5
Stomach	SNU216	6.6
Stomach	SNU520	6.9
Stomach	SNU5	6.8
Stomach	SNU601	7.3
Stomach	SNU620	6.9
Stomach	SNU668	7.2
Stomach	SNU719	7.4
Stomach	TGBC11TKB	7.4
Thyroid	8305C	6.3
Thyroid	8505C	6.6
Thyroid	BCPAP	6.9
Thyroid	BHT101	7.2
Thyroid	CAL62	7
Thyroid	CGTHW1	6.2
Thyroid	FTC133	6.2
Thyroid	FTC238	6.6
Thyroid	ML1	7
Thyroid	SW579	6.7
Thyroid	TT2609C02	7.3
Thyroid	TT	7.3
Upper aerodigestive tract	BHY	6.4
Upper aerodigestive tract	BICR16	6.5
Upper aerodigestive tract	BICR18	7.1
Upper aerodigestive tract	BICR22	7
Upper aerodigestive tract	BICR31	6.7
Upper aerodigestive tract	BICR56	7.1
Upper aerodigestive tract	BICR6	6.4
Upper aerodigestive tract	CAL27	6.8
Upper aerodigestive tract	CAL33	7.4
Upper aerodigestive tract	DETROIT562	6.3
Upper aerodigestive tract	FADU	7
Upper aerodigestive tract	HS840T	6.5
Upper aerodigestive tract	HSC2	6.4
Upper aerodigestive tract	HSC3	6.2
Upper aerodigestive tract	HSC4	6.5
Upper aerodigestive tract	PECAPJ15	6.9
Upper aerodigestive tract	PECAPJ34CLONEC12	6.7
Upper aerodigestive tract	PECAPJ41CLONED2	6.7
Upper aerodigestive tract	PECAPJ49	6.6
Upper aerodigestive tract	SCC15	6.7
Upper aerodigestive tract	SCC25	6.7
Upper aerodigestive tract	SCC4	7.2
Upper aerodigestive tract	SCC9	6.8
Upper aerodigestive tract	SNU1076	6.8
Upper aerodigestive tract	SNU1214	6.5
Upper aerodigestive tract	SNU46	6.6
Upper aerodigestive tract	SNU899	6.7
Upper aerodigestive tract	YD10B	7
Upper aerodigestive tract	YD38	6.7
Upper aerodigestive tract	YD8	6.7
Urinary tract	5637	6.5
Urinary tract	639V	7
Urinary tract	647V	6.9
Urinary tract	BC3C	6.6
Urinary tract	BFTC905	7.4
Urinary tract	CAL29	6.9
Urinary tract	HS172T	6.2
Urinary tract	HT1197	7.2
Urinary tract	HT1376	6.9
Urinary tract	J82	6.7
Urinary tract	JMSU1	7.3
Urinary tract	KMBC2	6.7
Urinary tract	KU1919	7.1
Urinary tract	RT11284	7
Urinary tract	RT112	7.1
Urinary tract	RT4	6.8
Urinary tract	SCABER	6.4
Urinary tract	SW1710	6.7
Urinary tract	SW780	7.3
Urinary tract	T24	7
Urinary tract	TCCSUP	7.6
Urinary tract	UMUC1	7.1
Urinary tract	UMUC3	7.1
Urinary tract	VMCUB1	6.9

> The Human Protein Atlas (HPA)

[ TOP ]

Tissue	Expression Level (TPM)
Adipose tissue	18.9
Adrenal gland	15.9
Appendix	23.9
Bone marrow	43.1
Breast	17.7
Cerebral cortex	18.2
Cervix, uterine	23.8
Colon	16.1
Duodenum	14.2
Endometrium	23.7
Epididymis	17.4
Esophagus	12.7
Fallopian tube	26.5
Gallbladder	18.9
Heart muscle	7.7
Kidney	12.2
Liver	5.6
Lung	23.7
Lymph node	22.1
Ovary	24.6
Pancreas	3.8
Parathyroid gland	45.7
Placenta	24.4
Prostate	21.5
Rectum	17.4
Salivary gland	8
Seminal vesicle	24.5
Skeletal muscle	14.4
Skin	37.6
Small intestine	14.5
Smooth muscle	24.4
Spleen	30
Stomach	15.4
Testis	29.1
Thyroid gland	25.1
Tonsil	18.1
Urinary bladder	14.1

> Text Mining based Expression

[ TOP ]

PMID	Expression	Cancer	Evidence
27280393	Overexpression	Pancreatic Ductal Adenocarcinoma	Reduced Expression of Histone Methyltransferases KMT2C and KMT2D Correlates with Improved Outcome in Pancreatic Ductal Adenocarcinoma.

Summary
Symbol	KMT2D
Name	lysine methyltransferase 2D
Aliases	CAGL114; TNRC21; trinucleotide repeat containing 21; myeloid/lymphoid or mixed-lineage leukemia 2; AAD10; KA ......
Location	12q13.12
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Somatic copy number alteration in primary tomur tissue

> The Cancer Genome Atlas (TCGA)

[ TOP ]

Correlation between expression and SCNA as well as percentage of patients in different status.

Cancer	Full Name	# Sample	R	P	% Loss	% Neutral	% Gain	Status
BLCA	Bladder urothelial carcinoma	404	0.325	2.22e-11	16.8	62.1	21	Neutral
BRCA	Breast invasive carcinoma	1075	0.39	2.43e-40	14.5	65.9	19.6	Neutral
CESC	Cervical and endocervical cancers	292	0.119	0.0416	5.8	76.4	17.8	Neutral
COAD	Colon adenocarcinoma	449	0.241	2.27e-07	10	68.4	21.6	Neutral
ESCA	Esophageal carcinoma	183	0.385	7.13e-08	23	57.4	19.7	Neutral
GBM	Glioblastoma multiforme	147	0.052	0.532	10.2	79.6	10.2	Neutral
HNSC	Head and Neck squamous cell carcinoma	514	0.356	7.6e-17	10.9	73.5	15.6	Neutral
KIRC	Kidney renal clear cell carcinoma	525	0.138	0.00159	1	76.4	22.7	Neutral
KIRP	Kidney renal papillary cell carcinoma	288	0.273	2.62e-06	0.3	61.1	38.5	Gain
LAML	Acute Myeloid Leukemia	166	0.2	0.00979	1.2	98.8	0	Neutral
LGG	Brain Lower Grade Glioma	513	0.337	4.23e-15	13.3	84.4	2.3	Neutral
LIHC	Liver hepatocellular carcinoma	364	0.202	0.000101	10.4	75.8	13.7	Neutral
LUAD	Lung adenocarcinoma	512	0.343	1.27e-15	18.2	52.9	28.9	Neutral
LUSC	Lung squamous cell carcinoma	498	0.154	0.000569	12	57.2	30.7	Neutral
OV	Ovarian serous cystadenocarcinoma	300	0.439	1.51e-15	18.3	48.7	33	Neutral
PAAD	Pancreatic adenocarcinoma	177	0.519	1.34e-13	18.6	68.9	12.4	Neutral
PCPG	Pheochromocytoma and Paraganglioma	162	0.232	0.00292	1.9	91.4	6.8	Neutral
PRAD	Prostate adenocarcinoma	491	0.102	0.0238	4.7	91.9	3.5	Neutral
READ	Rectum adenocarcinoma	164	0.214	0.00601	10.4	74.4	15.2	Neutral
SARC	Sarcoma	255	0.437	2.55e-13	27.1	58	14.9	Neutral
SKCM	Skin Cutaneous Melanoma	367	0.421	3.12e-17	20.7	67.6	11.7	Neutral
STAD	Stomach adenocarcinoma	413	0.346	4.94e-13	11.9	69	19.1	Neutral
TGCT	Testicular Germ Cell Tumors	150	0.329	3.92e-05	0	36.7	63.3	Gain
THCA	Thyroid carcinoma	497	0.17	0.000134	0	97	3	Neutral
THYM	Thymoma	119	0.031	0.735	5.9	90.8	3.4	Neutral
UCEC	Uterine Corpus Endometrial Carcinoma	537	0.288	1.01e-11	6.9	80.3	12.8	Neutral

Summary
Symbol	KMT2D
Name	lysine methyltransferase 2D
Aliases	CAGL114; TNRC21; trinucleotide repeat containing 21; myeloid/lymphoid or mixed-lineage leukemia 2; AAD10; KA ......
Location	12q13.12
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Methylation level in the promoter region of CR

> Methylation level in the promoter region of CR

[ TOP ]

Correlation between expression and methylation as well as differential methylation analysis.

Cancer	Full Name	R	P	# N	# T	Delta beta (T vs N)	P value (T vs N)	Status
BLCA	Bladder urothelial carcinoma	-0.359	2.96e-14	17	408	-0.061	0.000814	NS/NA
BRCA	Breast invasive carcinoma	-0.235	2.71e-12	83	785	-0.199	3.9e-34	NS/NA
CESC	Cervical and endocervical cancers	-0.174	0.00216	3	306	NA	NA	NS/NA
COAD	Colon adenocarcinoma	-0.072	0.199	19	297	0.118	2.02e-07	NS/NA
ESCA	Esophageal carcinoma	-0.26	0.000266	9	185	NA	NA	NS/NA
GBM	Glioblastoma multiforme	-0.124	0.325	1	64	NA	NA	NS/NA
HNSC	Head and Neck squamous cell carcinoma	-0.077	0.0719	20	522	0.286	3.16e-10	Increased
KIRC	Kidney renal clear cell carcinoma	-0.134	0.013	24	319	-0.025	3.45e-06	NS/NA
KIRP	Kidney renal papillary cell carcinoma	-0.097	0.0962	23	275	0.094	1.66e-17	NS/NA
LAML	Acute Myeloid Leukemia	-0.011	0.888	0	170	NA	NA	NS/NA
LGG	Brain Lower Grade Glioma	0	0.991	0	530	NA	NA	NS/NA
LIHC	Liver hepatocellular carcinoma	-0.039	0.427	41	373	0.009	0.0194	NS/NA
LUAD	Lung adenocarcinoma	-0.181	7.25e-05	21	456	0.068	0.000198	NS/NA
LUSC	Lung squamous cell carcinoma	-0.183	0.00035	8	370	NA	NA	NS/NA
OV	Ovarian serous cystadenocarcinoma	0.033	0.948	0	9	NA	NA	NS/NA
PAAD	Pancreatic adenocarcinoma	-0.173	0.0195	4	179	NA	NA	NS/NA
PCPG	Pheochromocytoma and Paraganglioma	-0.28	0.000108	3	184	NA	NA	NS/NA
PRAD	Prostate adenocarcinoma	-0.08	0.0663	35	498	-0.12	1.92e-05	NS/NA
READ	Rectum adenocarcinoma	-0.163	0.104	2	99	NA	NA	NS/NA
SARC	Sarcoma	-0.235	0.000121	0	263	NA	NA	NS/NA
SKCM	Skin Cutaneous Melanoma	-0.185	5.64e-05	1	471	NA	NA	NS/NA
STAD	Stomach adenocarcinoma	-0.017	0.741	0	372	NA	NA	NS/NA
TGCT	Testicular Germ Cell Tumors	-0.603	0	0	156	NA	NA	NS/NA
THCA	Thyroid carcinoma	-0.064	0.131	50	509	0.024	0.417	NS/NA
THYM	Thymoma	-0.182	0.0449	2	120	NA	NA	NS/NA
UCEC	Uterine Corpus Endometrial Carcinoma	-0.058	0.214	34	431	0.035	0.281	NS/NA

Summary
Symbol	KMT2D
Name	lysine methyltransferase 2D
Aliases	CAGL114; TNRC21; trinucleotide repeat containing 21; myeloid/lymphoid or mixed-lineage leukemia 2; AAD10; KA ......
Location	12q13.12
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Primary tumor tissue from TCGA > Normal tumor tissue from HPA

>The Cancer Genome Atlas (TCGA) [ TOP ]
There is no record.

> The Human Protein Atlas (HPA)

[ TOP ]

Tissue	Level	Level Name
Adrenal gland	1	Low
Appendix	1	Low
Bone marrow	2	Medium
Breast	0	Not detected
Bronchus	1	Low
Caudate	2	Medium
Cerebellum	3	High
Cerebral cortex	3	High
Cervix, uterine	0	Not detected
Colon	2	Medium
Duodenum	1	Low
Endometrium	2	Medium
Epididymis	3	High
Esophagus	1	Low
Fallopian tube	1	Low
Gallbladder	1	Low
Heart muscle	0	Not detected
Hippocampus	1	Low
Kidney	1	Low
Liver	0	Not detected
Lung	1	Low
Lymph node	0	Not detected
Nasopharynx	1	Low
Oral mucosa	0	Not detected
Ovary	0	Not detected
Pancreas	2	Medium
Parathyroid gland	2	Medium
Placenta	2	Medium
Prostate	1	Low
Rectum	1	Low
Salivary gland	0	Not detected
Seminal vesicle	1	Low
Skeletal muscle	0	Not detected
Skin	1	Low
Small intestine	0	Not detected
Smooth muscle	1	Low
Soft tissue	1	Low
Spleen	0	Not detected
Stomach	0	Not detected
Testis	2	Medium
Thyroid gland	2	Medium
Tonsil	1	Low
Urinary bladder	2	Medium
Vagina	0	Not detected

Summary
Symbol	KMT2D
Name	lysine methyltransferase 2D
Aliases	CAGL114; TNRC21; trinucleotide repeat containing 21; myeloid/lymphoid or mixed-lineage leukemia 2; AAD10; KA ......
Location	12q13.12
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Association between expresson and subtype > Overall survival analysis based on expression > Association between expresson and stage > Association between expresson and grade

> Subtype

[ TOP ]

Association between expresson and subtype.

Cancer	Full Name	# Patients	P Value (Kruskal-Wallis)	Association	Source
BLCA	Bladder urothelial carcinoma	128	0.89	NS	24476821
BRCA	Breast invasive carcinoma	521	1.5e-12	Significant	23000897
COAD	Colon adenocarcinoma	149	0.247	NS	22810696
GBM	Glioblastoma multiforme	157	0.0115	Significant	26824661
HNSC	Head and Neck squamous cell carcinoma	279	0.0386	Significant	25631445
KIRP	Kidney renal papillary cell carcinoma	161	0.00579	Significant	26536169
LGG	Brain Lower Grade Glioma	513	0.14	NS	26824661
LUAD	Lung adenocarcinoma	230	0.00601	Significant	25079552
LUSC	Lung squamous cell carcinoma	178	0.151	NS	22960745
OV	Ovarian serous cystadenocarcinoma	287	0.00193	Significant	21720365
PRAD	Prostate adenocarcinoma	333	0.159	NS	26544944
READ	Rectum adenocarcinoma	67	0.721	NS	22810696
SKCM	Skin Cutaneous Melanoma	315	0.0153	Significant	26091043
STAD	Stomach adenocarcinoma	277	0.000929	Significant	25079317
THCA	Thyroid carcinoma	391	0.134	NS	25417114
UCEC	Uterine Corpus Endometrial Carcinoma	232	0.152	NS	23636398

> Overall survival

[ TOP ]

Overall survival analysis based on expression.

Cancer	Full Name	# Patients	Hazard Ratio	P Value (Log Rank Test)	Association
BLCA	Bladder urothelial carcinoma	405	0.877	0.543	NS
BRCA	Breast invasive carcinoma	1079	1.214	0.419	NS
CESC	Cervical and endocervical cancers	291	1.388	0.352	NS
COAD	Colon adenocarcinoma	439	1.857	0.0374	Shorter
ESCA	Esophageal carcinoma	184	0.904	0.745	NS
GBM	Glioblastoma multiforme	158	0.943	0.819	NS
HNSC	Head and Neck squamous cell carcinoma	518	0.805	0.269	NS
KIRC	Kidney renal clear cell carcinoma	531	1.007	0.973	NS
KIRP	Kidney renal papillary cell carcinoma	287	0.84	0.696	NS
LAML	Acute Myeloid Leukemia	149	0.804	0.485	NS
LGG	Brain Lower Grade Glioma	511	1.124	0.66	NS
LIHC	Liver hepatocellular carcinoma	365	0.785	0.348	NS
LUAD	Lung adenocarcinoma	502	0.804	0.309	NS
LUSC	Lung squamous cell carcinoma	494	1.059	0.771	NS
OV	Ovarian serous cystadenocarcinoma	303	1.459	0.102	NS
PAAD	Pancreatic adenocarcinoma	177	0.996	0.988	NS
PCPG	Pheochromocytoma and Paraganglioma	179	791205048.571	0.108	NS
PRAD	Prostate adenocarcinoma	497	1.933	0.475	NS
READ	Rectum adenocarcinoma	159	1.24	0.741	NS
SARC	Sarcoma	259	1.055	0.852	NS
SKCM	Skin Cutaneous Melanoma	459	1.571	0.0208	Shorter
STAD	Stomach adenocarcinoma	388	0.727	0.145	NS
TGCT	Testicular Germ Cell Tumors	134	0	0.355	NS
THCA	Thyroid carcinoma	500	643186729.076	0.0722	NS
THYM	Thymoma	119	0	0.087	NS
UCEC	Uterine Corpus Endometrial Carcinoma	543	0.975	0.936	NS

> Stage

[ TOP ]

Association between expresson and stage.

Cancer	Full Name	# Patients	R Value (Spearman)	P Value (Spearman)	Association
BLCA	Bladder urothelial carcinoma	406	-0.158	0.00144	Lower
BRCA	Breast invasive carcinoma	1071	-0.002	0.943	NS
CESC	Cervical and endocervical cancers	167	0.028	0.716	NS
COAD	Colon adenocarcinoma	445	0.035	0.462	NS
ESCA	Esophageal carcinoma	162	-0.13	0.1	NS
HNSC	Head and Neck squamous cell carcinoma	448	-0.076	0.108	NS
KIRC	Kidney renal clear cell carcinoma	531	-0.087	0.0448	Lower
KIRP	Kidney renal papillary cell carcinoma	260	0.001	0.987	NS
LIHC	Liver hepatocellular carcinoma	347	0.031	0.564	NS
LUAD	Lung adenocarcinoma	507	0.025	0.58	NS
LUSC	Lung squamous cell carcinoma	497	0.038	0.394	NS
OV	Ovarian serous cystadenocarcinoma	302	-0.114	0.0485	Lower
PAAD	Pancreatic adenocarcinoma	176	-0.105	0.164	NS
READ	Rectum adenocarcinoma	156	-0.001	0.989	NS
SKCM	Skin Cutaneous Melanoma	410	0.015	0.768	NS
STAD	Stomach adenocarcinoma	392	0.005	0.914	NS
TGCT	Testicular Germ Cell Tumors	81	-0.245	0.0276	Lower
THCA	Thyroid carcinoma	499	-0.054	0.227	NS
UCEC	Uterine Corpus Endometrial Carcinoma	501	0.018	0.694	NS

> Grade

[ TOP ]

Association between expresson and grade.

Cancer	Full Name	# Patients	R Value (Spearman)	P Value (Spearman)	Association
CESC	Cervical and endocervical cancers	272	-0.087	0.152	NS
HNSC	Head and Neck squamous cell carcinoma	498	0.01	0.817	NS
KIRC	Kidney renal clear cell carcinoma	525	-0.089	0.0419	Lower
LGG	Brain Lower Grade Glioma	514	-0.032	0.472	NS
LIHC	Liver hepatocellular carcinoma	366	0.029	0.581	NS
OV	Ovarian serous cystadenocarcinoma	296	0.094	0.106	NS
PAAD	Pancreatic adenocarcinoma	176	-0.143	0.0582	NS
STAD	Stomach adenocarcinoma	406	0.036	0.473	NS
UCEC	Uterine Corpus Endometrial Carcinoma	534	0.019	0.654	NS

Summary
Symbol	KMT2D
Name	lysine methyltransferase 2D
Aliases	CAGL114; TNRC21; trinucleotide repeat containing 21; myeloid/lymphoid or mixed-lineage leukemia 2; AAD10; KA ......
Location	12q13.12
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Targets inferred by reverse engineering method > Targets identified by ChIP-seq data

> Targets inferred by reverse engineering method [ TOP ]

> Targets identified by ChIP-seq data [ TOP ]

Summary
Symbol	KMT2D
Name	lysine methyltransferase 2D
Aliases	CAGL114; TNRC21; trinucleotide repeat containing 21; myeloid/lymphoid or mixed-lineage leukemia 2; AAD10; KA ......
Location	12q13.12
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Drugs from DrugBank database

> Drugs from DrugBank database [ TOP ]
There is no record for KMT2D.

Summary
Symbol	KMT2D
Name	lysine methyltransferase 2D
Aliases	CAGL114; TNRC21; trinucleotide repeat containing 21; myeloid/lymphoid or mixed-lineage leukemia 2; AAD10; KA ......
Location	12q13.12
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Protein-Protein Interaction Network > miRNA Regulatory Relationship > Interactions from Text Mining

> Protein-Protein Interaction Network [ TOP ]

> miRNA Regulatory Relationship [ TOP ]
There is no record for KMT2D.

> Interactions from Text Mining

[ TOP ]

PMID	Cancer	Hierarchy	Gene	Relation to CR	Evidence
28007623	Small Cell Lung Carcinoma	partner	Lysine methyltransferase 2D protein; monomethylation of histone H3 lysine 4	Association; reduce monomethylation	We found that KMT2D mutation in human SCLC cell lines was associated with reduced lysine methyltransferase 2D protein levels and reduced monomethylation of histone H3 lysine 4, a mark associated with transcriptional enhancers.