CR2Cancer

Summary
Symbol	KDM6A
Name	lysine demethylase 6A
Aliases	UTX; ubiquitously transcribed tetratricopeptide repeat, X chromosome; KABUK2; bA386N14.2; bA386N14.2 (ubiqui ......
Location	Xp11.3
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

PF02373 JmjC domain
PF13181 Tetratricopeptide repeat

Function

Histone demethylase that specifically demethylates 'Lys-27' of histone H3, thereby playing a central role in histone code (PubMed:17851529, PubMed:17713478, PubMed:17761849). Demethylates trimethylated and dimethylated but not monomethylated H3 'Lys-27' (PubMed:17851529, PubMed:17713478, PubMed:17761849). Plays a central role in regulation of posterior development, by regulating HOX gene expression (PubMed:17851529). Demethylation of 'Lys-27' of histone H3 is concomitant with methylation of 'Lys-4' of histone H3, and regulates the recruitment of the PRC1 complex and monoubiquitination of histone H2A (PubMed:17761849).

Classification

Class	Modification	Substrate	Product	PubMed
Histone modification erase	Histone methylation	H3K27me2. H3K27me3	H3K27	17851529

> Gene Ontology [ TOP ]
Biological Process	GO:0000578 embryonic axis specification GO:0001701 in utero embryonic development GO:0001704 formation of primary germ layer GO:0001707 mesoderm formation GO:0001756 somitogenesis GO:0001838 embryonic epithelial tube formation GO:0001841 neural tube formation GO:0001843 neural tube closure GO:0003002 regionalization GO:0003007 heart morphogenesis GO:0003016 respiratory system process GO:0006479 protein methylation GO:0006482 protein demethylation GO:0007369 gastrulation GO:0007389 pattern specification process GO:0007498 mesoderm development GO:0007507 heart development GO:0007585 respiratory gaseous exchange GO:0008213 protein alkylation GO:0008214 protein dealkylation GO:0009798 axis specification GO:0009880 embryonic pattern specification GO:0009948 anterior/posterior axis specification GO:0009952 anterior/posterior pattern specification GO:0014020 primary neural tube formation GO:0016055 Wnt signaling pathway GO:0016331 morphogenesis of embryonic epithelium GO:0016570 histone modification GO:0016571 histone methylation GO:0016577 histone demethylation GO:0018022 peptidyl-lysine methylation GO:0018205 peptidyl-lysine modification GO:0021915 neural tube development GO:0030903 notochord development GO:0032259 methylation GO:0032525 somite rostral/caudal axis specification GO:0034968 histone lysine methylation GO:0035148 tube formation GO:0035239 tube morphogenesis GO:0035264 multicellular organism growth GO:0035282 segmentation GO:0043414 macromolecule methylation GO:0048332 mesoderm morphogenesis GO:0048333 mesodermal cell differentiation GO:0048562 embryonic organ morphogenesis GO:0048568 embryonic organ development GO:0048570 notochord morphogenesis GO:0051568 histone H3-K4 methylation GO:0060070 canonical Wnt signaling pathway GO:0060562 epithelial tube morphogenesis GO:0060606 tube closure GO:0061053 somite development GO:0070076 histone lysine demethylation GO:0070988 demethylation GO:0071557 histone H3-K27 demethylation GO:0072175 epithelial tube formation GO:0198738 cell-cell signaling by wnt
Molecular Function	GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000987 core promoter proximal region sequence-specific DNA binding GO:0001159 core promoter proximal region DNA binding GO:0003682 chromatin binding GO:0031490 chromatin DNA binding GO:0032451 demethylase activity GO:0032452 histone demethylase activity GO:0043566 structure-specific DNA binding GO:0051213 dioxygenase activity GO:0071558 histone demethylase activity (H3-K27 specific)
Cellular Component	GO:0034708 methyltransferase complex GO:0035097 histone methyltransferase complex GO:0044666 MLL3/4 complex

> KEGG and Reactome Pathway [ TOP ]
KEGG	-
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-1266738: Developmental Biology R-HSA-3214842: HDMs demethylate histones

Summary
Symbol	KDM6A
Name	lysine demethylase 6A
Aliases	UTX; ubiquitously transcribed tetratricopeptide repeat, X chromosome; KABUK2; bA386N14.2; bA386N14.2 (ubiqui ......
Location	Xp11.3
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 ]

> Catalogue of Somatic Mutations in Cancer (COSMIC)

[ TOP ]

COSMIC ID	CDS change	AA change	Mutation Type	Anatomical Site
COSM5031020	c.4073G>A	p.C1358Y	Substitution - Missense	Endometrium
COSM5047976	c.3724G>C	p.G1242R	Substitution - Missense	Oesophagus
COSM2965308	c.477T>C	p.V159V	Substitution - coding silent	Upper_aerodigestive_tract
COSM5751594	c.3333_3334insG	p.V1112fs*39	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4385365	c.635C>T	p.A212V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5031049	c.3956G>A	p.W1319*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4385388	c.3656G>A	p.W1219*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1121593	c.2705A>G	p.N902S	Substitution - Missense	Endometrium
COSM4797487	c.3725G>A	p.G1242D	Substitution - Missense	Liver
COSM32855	c.3317T>G	p.L1106R	Substitution - Missense	Large_intestine
COSM1625902	c.902A>G	p.Q301R	Substitution - Missense	Liver
COSM255014	c.2995G>T	p.E999*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM253882	c.3341C>A	p.S1114*	Substitution - Nonsense	Urinary_tract
COSM757233	c.2832+1G>A	p.?	Unknown	Stomach
COSM1315522	c.4074C>A	p.C1358*	Substitution - Nonsense	Urinary_tract
COSM4852631	c.2342C>A	p.S781Y	Substitution - Missense	Cervix
COSM4109545	c.495A>C	p.R165R	Substitution - coding silent	Stomach
COSM4109551	c.1194G>T	p.Q398H	Substitution - Missense	Stomach
COSM5711646	c.1166C>A	p.A389E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1745415	c.1841_1844delCACT	p.T616fs*8	Deletion - Frameshift	Urinary_tract
COSM1757269	c.226-2A>G	p.?	Unknown	Urinary_tract
COSM5609227	c.1930C>T	p.H644Y	Substitution - Missense	Skin
COSM1625902	c.902A>G	p.Q301R	Substitution - Missense	Liver
COSM1121596	c.2911C>T	p.R971C	Substitution - Missense	Prostate
COSM242548	c.3189_3196delTGAATCTA	p.E1064fs*4	Deletion - Frameshift	Prostate
COSM2965310	c.493C>T	p.R165*	Substitution - Nonsense	Oesophagus
COSM3765009	c.443+5G>A	p.?	Unknown	Central_nervous_system
COSM4754153	c.3229G>T	p.G1077*	Substitution - Nonsense	Stomach
COSM4109561	c.1962T>C	p.P654P	Substitution - coding silent	Stomach
COSM216208	c.3940G>T	p.G1314*	Substitution - Nonsense	Central_nervous_system
COSM2965428	c.2894A>C	p.N965T	Substitution - Missense	Large_intestine
COSM5986631	c.3142_3143insCC	p.R1048fs*36	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM216206	c.2777delC	p.S926fs*11	Deletion - Frameshift	Central_nervous_system
COSM2965385	c.2264C>T	p.T755M	Substitution - Missense	Upper_aerodigestive_tract
COSM4172517	c.?	p.L615V	Substitution - Missense	Skin
COSM1315516	c.1531A>T	p.R511*	Substitution - Nonsense	Urinary_tract
COSM2965387	c.2364C>T	p.A788A	Substitution - coding silent	Upper_aerodigestive_tract
COSM28786	c.997C>T	p.Q333*	Substitution - Nonsense	Pancreas
COSM28786	c.997C>T	p.Q333*	Substitution - Nonsense	Oesophagus
COSM5422928	c.2436_2443delTAACTCTG	p.N813fs*19	Deletion - Frameshift	Prostate
COSM5879924	c.823A>G	p.K275E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2965438	c.3304G>A	p.E1102K	Substitution - Missense	Oesophagus
COSM316439	c.1268G>T	p.W423L	Substitution - Missense	Lung
COSM4880700	c.3822C>G	p.S1274S	Substitution - coding silent	Prostate
COSM1717558	c.1556G>C	p.R519P	Substitution - Missense	Ovary
COSM2965438	c.3304G>A	p.E1102K	Substitution - Missense	Upper_aerodigestive_tract
COSM1255501	c.4176+1G>A	p.?	Unknown	Oesophagus
COSM6005454	c.?	p.Q692fs*37	Frameshift	Breast
COSM5879921	c.663T>G	p.Y221*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4109568	c.3917T>C	p.L1306S	Substitution - Missense	Stomach
COSM5986634	c.3334_3335insTACCCTGT	p.V1113fs*10	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4695039	c.2845C>T	p.R949C	Substitution - Missense	Large_intestine
COSM28774	c.3945_3946insA	p.E1316fs*17	Insertion - Frameshift	Large_intestine
COSM28791	c.3014delT	p.L1005fs*43	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM2965395	c.2439C>T	p.N813N	Substitution - coding silent	Upper_aerodigestive_tract
COSM5346172	c.2265delG	p.A756fs*18	Deletion - Frameshift	Urinary_tract
COSM1179848	c.3111G>A	p.Q1037Q	Substitution - coding silent	Soft_tissue
COSM5031078	c.29_40del12	p.A14_A17del	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM457529	c.654+2T>G	p.?	Unknown	Breast
COSM457530	c.736delT	p.L246fs*4	Deletion - Frameshift	Breast
COSM1490966	c.781G>C	p.D261H	Substitution - Missense	Breast
COSM1625903	c.963G>A	p.W321*	Substitution - Nonsense	Liver
COSM1158774	c.792C>T	p.T264T	Substitution - coding silent	Pancreas
COSM1732167	c.113delC	p.S40fs*2	Deletion - Frameshift	Large_intestine
COSM5366752	c.1646_1653delGAGTGCCT	p.R549fs*29	Deletion - Frameshift	Large_intestine
COSM5967291	c.995_996insAA	p.N332fs*28	Insertion - Frameshift	Salivary_gland
COSM255004	c.3668G>A	p.G1223D	Substitution - Missense	Urinary_tract
COSM2965405	c.2502G>A	p.E834E	Substitution - coding silent	Upper_aerodigestive_tract
COSM5985482	c.2773T>A	p.S925T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5946031	c.3234_3235insT	p.K1080fs*1	Insertion - Frameshift	Urinary_tract
COSM4385371	c.1310C>T	p.A437V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5711655	c.2512_2515delACAA	p.N839fs*27	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3390649	c.3646G>A	p.D1216N	Substitution - Missense	Pancreas
COSM4881022	c.3878+3A>C	p.?	Unknown	Prostate
COSM28794	c.384+1G>T	p.?	Unknown	Central_nervous_system
COSM5982506	c.3649T>C	p.L1217L	Substitution - coding silent	Upper_aerodigestive_tract
COSM2965463	c.3708C>T	p.N1236N	Substitution - coding silent	Upper_aerodigestive_tract
COSM1625904	c.3737-2A>G	p.?	Unknown	Liver
COSM1315520	c.3634C>T	p.Q1212*	Substitution - Nonsense	Urinary_tract
COSM1756574	c.378C>T	p.Y126Y	Substitution - coding silent	Urinary_tract
COSM1756576	c.3685C>T	p.Q1229*	Substitution - Nonsense	Urinary_tract
COSM4385382	c.2128C>T	p.Q710*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5031075	c.3331_3331C>GGGGCGTAA	p.R1111fs*3	Complex - frameshift	Haematopoietic_and_lymphoid_tissue
COSM5879936	c.3304G>T	p.E1102*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1315515	c.943G>C	p.E315Q	Substitution - Missense	Urinary_tract
COSM3390647	c.1282C>T	p.P428S	Substitution - Missense	Pancreas
COSM5879930	c.1241_1242insG	p.L415fs*4	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3992484	c.223A>T	p.K75*	Substitution - Nonsense	Kidney
COSM1121587	c.2289C>T	p.S763S	Substitution - coding silent	Endometrium
COSM1179153	c.311T>G	p.L104R	Substitution - Missense	Prostate
COSM5031050	c.2606A>T	p.D869V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4434112	c.1065G>A	p.W355*	Substitution - Nonsense	Oesophagus
COSM1178762	c.450_451insA	p.A152fs*9	Insertion - Frameshift	Prostate
COSM2965438	c.3304G>A	p.E1102K	Substitution - Missense	Biliary_tract
COSM757229	c.4177-1G>A	p.?	Unknown	Lung
COSM5028904	c.3203C>A	p.S1068*	Substitution - Nonsense	Breast
COSM4172504	c.?	p.T726K	Substitution - Missense	Skin
COSM3992493	c.1577G>A	p.G526E	Substitution - Missense	Pancreas
COSM5945516	c.3910C>T	p.Q1304*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4695030	c.174G>A	p.G58G	Substitution - coding silent	Large_intestine
COSM28806	c.226-?_875+?del	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM255016	c.1105C>T	p.Q369*	Substitution - Nonsense	Urinary_tract
COSM5031025	c.?	p.E1335*	Substitution - Nonsense	Central_nervous_system
COSM2965375	c.2199C>A	p.H733Q	Substitution - Missense	Upper_aerodigestive_tract
COSM5609221	c.3151A>T	p.N1051Y	Substitution - Missense	Skin
COSM2965452	c.3600T>A	p.L1200L	Substitution - coding silent	Upper_aerodigestive_tract
COSM5437775	c.1177C>T	p.R393*	Substitution - Nonsense	Oesophagus
COSM5879924	c.823A>G	p.K275E	Substitution - Missense	Central_nervous_system
COSM5432514	c.2971G>T	p.E991*	Substitution - Nonsense	Oesophagus
COSM28805	c.226_384del159	p.?	Unknown	Oesophagus
COSM2965359	c.1896_1897insA	p.N634fs*5	Insertion - Frameshift	Large_intestine
COSM1644696	c.4005+1G>T	p.?	Unknown	Salivary_gland
COSM255002	c.1007A>G	p.D336G	Substitution - Missense	Urinary_tract
COSM255068	c.2112_2121del10	p.T705fs*7	Deletion - Frameshift	Urinary_tract
COSM1732157	c.49_51delGCT	p.A17delA	Deletion - In frame	Kidney
COSM28787	c.2654_2663del10	p.M885fs*10	Deletion - Frameshift	Kidney
COSM2965387	c.2364C>T	p.A788A	Substitution - coding silent	Upper_aerodigestive_tract
COSM2965375	c.2199C>A	p.H733Q	Substitution - Missense	Upper_aerodigestive_tract
COSM457531	c.3356T>C	p.L1119P	Substitution - Missense	Breast
COSM1644697	c.3419G>A	p.G1140E	Substitution - Missense	Stomach
COSM29152	c.3209+3delAAGTCATT	p.?	Unknown	Kidney
COSM2965385	c.2264C>T	p.T755M	Substitution - Missense	Upper_aerodigestive_tract
COSM255658	c.3434G>A	p.G1145D	Substitution - Missense	Central_nervous_system
COSM5982786	c.3565C>T	p.L1189L	Substitution - coding silent	Upper_aerodigestive_tract
COSM1644033	c.3253G>A	p.G1085R	Substitution - Missense	Stomach
COSM255014	c.2995G>T	p.E999*	Substitution - Nonsense	Urinary_tract
COSM28787	c.2654_2663del10	p.M885fs*10	Deletion - Frameshift	Kidney
COSM4754160	c.4011G>T	p.E1337D	Substitution - Missense	Stomach
COSM5805585	c.30C>T	p.T10T	Substitution - coding silent	Liver
COSM4800499	c.1024A>T	p.I342F	Substitution - Missense	Liver
COSM5016700	c.550_551delGA	p.E184fs*2	Deletion - Frameshift	Kidney
COSM5985482	c.2773T>A	p.S925T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3780477	c.3868G>A	p.E1290K	Substitution - Missense	Pancreas
COSM3800606	c.3900G>A	p.L1300L	Substitution - coding silent	Urinary_tract
COSM4385365	c.635C>T	p.A212V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2965428	c.2894A>C	p.N965T	Substitution - Missense	Large_intestine
COSM2965450	c.3588T>C	p.N1196N	Substitution - coding silent	Upper_aerodigestive_tract
COSM255012	c.3582G>A	p.W1194*	Substitution - Nonsense	Kidney
COSM2965342	c.1592C>T	p.S531L	Substitution - Missense	Cervix
COSM1732167	c.113delC	p.S40fs*2	Deletion - Frameshift	Kidney
COSM4172516	c.?	p.T581A	Substitution - Missense	Skin
COSM234029	c.443+6T>C	p.?	Unknown	Skin
COSM4889600	c.1779A>T	p.I593I	Substitution - coding silent	Upper_aerodigestive_tract
COSM5751591	c.3331_3332insG	p.V1112fs*39	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM305319	c.618_619+2delAAGT	p.?	Unknown	Breast
COSM2965329	c.1166C>T	p.A389V	Substitution - Missense	Urinary_tract
COSM5202470	c.1079_1080delCT	p.Y362fs*1	Deletion - Frameshift	Breast
COSM5711643	c.664C>A	p.H222N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2965310	c.493C>T	p.R165*	Substitution - Nonsense	Oesophagus
COSM5751594	c.3333_3334insG	p.V1112fs*39	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM2965391	c.2416G>A	p.A806T	Substitution - Missense	Upper_aerodigestive_tract
COSM2965470	c.3804A>G	p.V1268V	Substitution - coding silent	Stomach
COSM5779978	c.239A>G	p.Y80C	Substitution - Missense	Breast
COSM5991645	c.?	p.N1130fs*8	Frameshift	Breast
COSM5989756	c.2331T>A	p.N777K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5879942	c.3364G>T	p.V1122F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1625901	c.339A>G	p.L113L	Substitution - coding silent	Liver
COSM4109542	c.185T>C	p.F62S	Substitution - Missense	Stomach
COSM5031019	c.197G>A	p.G66D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4879143	c.3349A>T	p.N1117Y	Substitution - Missense	Prostate
COSM2965375	c.2199C>A	p.H733Q	Substitution - Missense	Upper_aerodigestive_tract
COSM5944820	c.3337_3338insT	p.S1114fs*37	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM28790	c.2122G>T	p.G708*	Substitution - Nonsense	Lung
COSM1158774	c.792C>T	p.T264T	Substitution - coding silent	Pancreas
COSM214540	c.3338_3339insGTCGT	p.A1115fs*7	Insertion - Frameshift	Breast
COSM4765200	c.2076_2077insG	p.A694fs*36	Insertion - Frameshift	Stomach
COSM1625902	c.902A>G	p.Q301R	Substitution - Missense	Liver
COSM1757269	c.226-2A>G	p.?	Unknown	Urinary_tract
COSM3733889	c.1831C>T	p.Q611*	Substitution - Nonsense	Pancreas
COSM2965492	c.4082G>A	p.C1361Y	Substitution - Missense	Urinary_tract
COSM2965385	c.2264C>T	p.T755M	Substitution - Missense	Upper_aerodigestive_tract
COSM1636550	c.3172A>G	p.K1058E	Substitution - Missense	Liver
COSM2965370	c.2040C>T	p.N680N	Substitution - coding silent	Upper_aerodigestive_tract
COSM1468072	c.3836G>A	p.R1279Q	Substitution - Missense	Upper_aerodigestive_tract
COSM5030941	c.3487G>A	p.D1163N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2965430	c.2987A>G	p.H996R	Substitution - Missense	Large_intestine
COSM4767597	c.901C>T	p.Q301*	Substitution - Nonsense	Biliary_tract
COSM5751797	c.929_930insT	p.I311fs*2	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM2965340	c.1440C>T	p.L480L	Substitution - coding silent	Lung
COSM4993528	c.1333A>T	p.T445S	Substitution - Missense	Skin
COSM3733889	c.1831C>T	p.Q611*	Substitution - Nonsense	Pancreas
COSM6006412	c.4176_4177insGG	p.A1393fs*11	Insertion - Frameshift	Central_nervous_system
COSM1121591	c.2657C>A	p.S886Y	Substitution - Missense	Endometrium
COSM4491721	c.3856C>T	p.P1286S	Substitution - Missense	Skin
COSM5031048	c.3589C>T	p.L1197F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1745561	c.1840_1841insC	p.L615fs*6	Insertion - Frameshift	Urinary_tract
COSM5033836	c.88G>A	p.A30T	Substitution - Missense	Skin
COSM1121602	c.3540C>A	p.F1180L	Substitution - Missense	Endometrium
COSM26005	c.3930C>A	p.L1310L	Substitution - coding silent	Kidney
COSM5879927	c.1148G>T	p.S383I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM245201	c.3479G>T	p.G1160V	Substitution - Missense	Prostate
COSM4825086	c.3592G>A	p.E1198K	Substitution - Missense	Cervix
COSM216208	c.3940G>T	p.G1314*	Substitution - Nonsense	Soft_tissue
COSM5480555	c.4051C>T	p.R1351*	Substitution - Nonsense	Large_intestine
COSM5442019	c.1799G>A	p.G600E	Substitution - Missense	Oesophagus
COSM1658780	c.2833-1G>A	p.?	Unknown	Salivary_gland
COSM4411952	c.?	p.L979fs*19	Unknown	Urinary_tract
COSM1121596	c.2911C>T	p.R971C	Substitution - Missense	Endometrium
COSM2965447	c.3519_3520insT	p.W1174fs*6	Insertion - Frameshift	Large_intestine
COSM306878	c.4134_4138CAAAA>CAAAAA	p.Y1378fs	Complex	Central_nervous_system
COSM757234	c.2702G>A	p.R901K	Substitution - Missense	Lung
COSM5415798	c.3122delC	p.S1042fs*6	Deletion - Frameshift	Prostate
COSM5945522	c.4075C>T	p.Q1359*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5617555	c.2702+5G>T	p.?	Unknown	Lung
COSM5557654	c.3846G>T	p.K1282N	Substitution - Missense	Prostate
COSM5946211	c.388delG	p.A130fs*50	Deletion - Frameshift	Pancreas
COSM5521190	c.811C>T	p.Q271*	Substitution - Nonsense	Biliary_tract
COSM28783	c.2090delA	p.N697fs*18	Deletion - Frameshift	Kidney
COSM4852877	c.2422C>T	p.H808Y	Substitution - Missense	Cervix
COSM28786	c.997C>T	p.Q333*	Substitution - Nonsense	Stomach
COSM2965397	c.2443G>T	p.V815F	Substitution - Missense	Breast
COSM3992490	c.1576G>T	p.G526W	Substitution - Missense	Kidney
COSM4854199	c.2453C>T	p.S818L	Substitution - Missense	Cervix
COSM255372	c.894delG	p.V300fs*25	Deletion - Frameshift	Central_nervous_system
COSM2965379	c.2233G>A	p.E745K	Substitution - Missense	Soft_tissue
COSM255013	c.349C>T	p.Q117*	Substitution - Nonsense	Urinary_tract
COSM5945507	c.2257C>T	p.Q753*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM28788	c.3445_3446delAA	p.N1149fs*1	Deletion - Frameshift	Kidney
COSM5711655	c.2512_2515delACAA	p.N839fs*27	Deletion - Frameshift	Prostate
COSM5946037	c.3666_3667insG	p.T1224fs*27	Insertion - Frameshift	Urinary_tract
COSM757235	c.1555C>T	p.R519*	Substitution - Nonsense	Lung
COSM2965375	c.2199C>A	p.H733Q	Substitution - Missense	Upper_aerodigestive_tract
COSM4424179	c.3769G>T	p.E1257*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM2965457	c.3666A>T	p.A1222A	Substitution - coding silent	Upper_aerodigestive_tract
COSM2965385	c.2264C>T	p.T755M	Substitution - Missense	Large_intestine
COSM4168301	c.3334_3335insTC	p.V1113fs*8	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM28780	c.3835C>T	p.R1279*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM6005472	c.1372C>T	p.P458S	Substitution - Missense	Breast
COSM255289	c.162-1G>A	p.?	Unknown	Central_nervous_system
COSM28785	c.2587C>T	p.Q863*	Substitution - Nonsense	Urinary_tract
COSM4891242	c.2983G>T	p.E995*	Substitution - Nonsense	Upper_aerodigestive_tract
COSM5696749	c.3736+2T>C	p.?	Unknown	Soft_tissue
COSM5031022	c.?_?delA	p.?fs	Deletion - Frameshift	Central_nervous_system
COSM305319	c.618_619+2delAAGT	p.?	Unknown	Breast
COSM3844736	c.3259A>G	p.N1087D	Substitution - Missense	Breast
COSM5982506	c.3649T>C	p.L1217L	Substitution - coding silent	Upper_aerodigestive_tract
COSM1319435	c.4006-1G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1644697	c.3419G>A	p.G1140E	Substitution - Missense	Salivary_gland
COSM29152	c.3209+3delAAGTCATT	p.?	Unknown	Kidney
COSM28777	c.514C>T	p.R172*	Substitution - Nonsense	Central_nervous_system
COSM2965459	c.3669C>T	p.G1223G	Substitution - coding silent	Large_intestine
COSM4609530	c.3023C>A	p.A1008E	Substitution - Missense	Adrenal_gland
COSM5031021	c.?	p.?	Unknown	Large_intestine
COSM245200	c.3470T>A	p.I1157K	Substitution - Missense	Prostate
COSM1757270	c.1125C>T	p.Y375Y	Substitution - coding silent	Urinary_tract
COSM5635290	c.3946delG	p.E1316fs*40	Deletion - Frameshift	Oesophagus
COSM28786	c.997C>T	p.Q333*	Substitution - Nonsense	Skin
COSM1179848	c.3111G>A	p.Q1037Q	Substitution - coding silent	Soft_tissue
COSM1179848	c.3111G>A	p.Q1037Q	Substitution - coding silent	Soft_tissue
COSM4564045	c.3420_3421GA>AC	p.S1141R	Substitution - Missense	Skin
COSM5423341	c.268A>T	p.K90*	Substitution - Nonsense	Prostate
COSM255008	c.1528-1G>C	p.?	Unknown	Urinary_tract
COSM4168307	c.3337G>T	p.V1113L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4385397	c.4154A>G	p.Q1385R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM28778	c.1621C>T	p.Q541*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM28805	c.226_384del159	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1315997	c.2531T>A	p.L844H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1745403	c.2077_2084delGGGGCTGC	p.G693fs*34	Deletion - Frameshift	Urinary_tract
COSM2965391	c.2416G>A	p.A806T	Substitution - Missense	Upper_aerodigestive_tract
COSM4433737	c.2683G>A	p.E895K	Substitution - Missense	Oesophagus
COSM5752702	c.2306C>A	p.S769*	Substitution - Nonsense	Breast
COSM4406605	c.?	p.S114C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM422563	c.2319A>G	p.L773L	Substitution - coding silent	Urinary_tract
COSM1682569	c.3614T>G	p.V1205G	Substitution - Missense	Large_intestine
COSM2965381	c.2251G>A	p.V751I	Substitution - Missense	Skin
COSM255014	c.2995G>T	p.E999*	Substitution - Nonsense	Urinary_tract
COSM2965383	c.2260A>G	p.M754V	Substitution - Missense	Upper_aerodigestive_tract
COSM2965373	c.2171T>C	p.I724T	Substitution - Missense	Upper_aerodigestive_tract
COSM2965481	c.3897T>C	p.T1299T	Substitution - coding silent	Cervix
COSM1740833	c.1425+2T>C	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1756576	c.3685C>T	p.Q1229*	Substitution - Nonsense	Urinary_tract
COSM2965383	c.2260A>G	p.M754V	Substitution - Missense	Upper_aerodigestive_tract
COSM4930259	c.443+2T>G	p.?	Unknown	Liver
COSM1121583	c.1482G>A	p.M494I	Substitution - Missense	Endometrium
COSM4431997	c.2578G>T	p.E860*	Substitution - Nonsense	Oesophagus
COSM2965363	c.1952C>T	p.S651L	Substitution - Missense	Upper_aerodigestive_tract
COSM1237068	c.1655G>A	p.S552N	Substitution - Missense	Parathyroid
COSM302470	c.3646G>T	p.D1216Y	Substitution - Missense	Central_nervous_system
COSM1557537	c.3961G>T	p.G1321W	Substitution - Missense	Lung
COSM3731539	c.2338C>A	p.L780I	Substitution - Missense	Stomach
COSM2965385	c.2264C>T	p.T755M	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5030940	c.1666C>A	p.P556T	Substitution - Missense	Central_nervous_system
COSM5647974	c.2352G>A	p.L784L	Substitution - coding silent	Oesophagus
COSM1121598	c.3022_3050del29	p.A1008fs*7	Deletion - Frameshift	Endometrium
COSM28773	c.3416delC	p.P1139fs*19	Deletion - Frameshift	Urinary_tract
COSM2965299	c.360C>G	p.Y120*	Substitution - Nonsense	Oesophagus
COSM4167464	c.3638G>T	p.R1213L	Substitution - Missense	Central_nervous_system
COSM5366752	c.1646_1653delGAGTGCCT	p.R549fs*29	Deletion - Frameshift	Large_intestine
COSM1293012	c.3859A>T	p.K1287*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1727504	c.334G>A	p.A112T	Substitution - Missense	Liver
COSM6005473	c.1373C>T	p.P458L	Substitution - Missense	Breast
COSM3759496	c.2177C>A	p.T726K	Substitution - Missense	Soft_tissue
COSM29149	c.2929C>A	p.L977I	Substitution - Missense	Kidney
COSM1211797	c.3638G>A	p.R1213Q	Substitution - Missense	Large_intestine
COSM355616	c.959C>T	p.T320I	Substitution - Missense	Lung
COSM2965450	c.3588T>C	p.N1196N	Substitution - coding silent	Upper_aerodigestive_tract
COSM28803	c.1-?_225+?del	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1745541	c.2619_2620insA	p.N874fs*5	Insertion - Frameshift	Urinary_tract
COSM5879939	c.3312_3313TA>AGGCCCC	p.K1105fs*17	Complex - frameshift	Haematopoietic_and_lymphoid_tissue
COSM28790	c.2122G>T	p.G708*	Substitution - Nonsense	Lung
COSM4154957	c.620-5T>G	p.?	Unknown	Kidney
COSM99738	c.808A>G	p.I270V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1756576	c.3685C>T	p.Q1229*	Substitution - Nonsense	Urinary_tract
COSM4654558	c.2814A>T	p.P938P	Substitution - coding silent	Large_intestine
COSM306879	c.2776_2777TC>T	p.S926fs	Complex	Central_nervous_system
COSM1638064	c.2599A>T	p.K867*	Substitution - Nonsense	Bone
COSM5024878	c.97G>T	p.E33*	Substitution - Nonsense	Breast
COSM4887070	c.2012C>A	p.A671E	Substitution - Missense	Upper_aerodigestive_tract
COSM28801	c.226-?_654+?del	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4433734	c.2550G>C	p.G850G	Substitution - coding silent	Oesophagus
COSM1319436	c.1861C>T	p.R621C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM28775	c.3520_3521insT	p.W1174fs*6	Insertion - Frameshift	Large_intestine
COSM255069	c.3144_3144+3delAGTA	p.?	Unknown	Urinary_tract
COSM1315519	c.3579G>A	p.W1193*	Substitution - Nonsense	Urinary_tract
COSM4385394	c.3937G>A	p.A1313T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4168313	c.3338_3342delTATCA	p.V1113fs*36	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM2965393	c.2421T>C	p.V807V	Substitution - coding silent	Upper_aerodigestive_tract
COSM1285707	c.3904C>T	p.Q1302*	Substitution - Nonsense	Autonomic_ganglia
COSM4379280	c.1792A>G	p.I598V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5985476	c.2464G>A	p.A822T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1315518	c.3578G>A	p.W1193*	Substitution - Nonsense	Urinary_tract
COSM255017	c.1663C>T	p.Q555*	Substitution - Nonsense	Urinary_tract
COSM2965461	c.3687G>A	p.Q1229Q	Substitution - coding silent	Upper_aerodigestive_tract
COSM32855	c.3317T>G	p.L1106R	Substitution - Missense	Biliary_tract
COSM255011	c.2324C>G	p.S775*	Substitution - Nonsense	Urinary_tract
COSM462232	c.3337G>A	p.V1113I	Substitution - Missense	Cervix
COSM2965363	c.1952C>T	p.S651L	Substitution - Missense	Upper_aerodigestive_tract
COSM99734	c.3551_3551delA	p.N1184fs*3	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4983755	c.1610C>A	p.S537*	Substitution - Nonsense	Oesophagus
COSM3561746	c.1544T>C	p.V515A	Substitution - Missense	Skin
COSM302469	c.4001G>A	p.C1334Y	Substitution - Missense	Central_nervous_system
COSM1315517	c.3182C>G	p.S1061*	Substitution - Nonsense	Urinary_tract
COSM757230	c.3154G>T	p.E1052*	Substitution - Nonsense	Lung
COSM3759496	c.2177C>A	p.T726K	Substitution - Missense	Soft_tissue
COSM4169433	c.?	p.P921L	Substitution - Missense	Skin
COSM5879932	c.1242_1246ATTAC>GAT	p.L415fs*3	Complex - frameshift	Haematopoietic_and_lymphoid_tissue
COSM5711649	c.2035C>A	p.Q679K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1211798	c.3052A>T	p.K1018*	Substitution - Nonsense	Large_intestine
COSM2965405	c.2502G>A	p.E834E	Substitution - coding silent	Upper_aerodigestive_tract
COSM5982221	c.2232C>T	p.V744V	Substitution - coding silent	Upper_aerodigestive_tract
COSM28776	c.1793_1794delTA	p.I598fs*6	Deletion - Frameshift	Endometrium
COSM1468062	c.2242C>T	p.P748S	Substitution - Missense	Large_intestine
COSM2965370	c.2040C>T	p.N680N	Substitution - coding silent	Upper_aerodigestive_tract
COSM255288	c.3681G>A	p.W1227*	Substitution - Nonsense	Central_nervous_system
COSM325601	c.3809T>C	p.M1270T	Substitution - Missense	Lung
COSM5751181	c.595C>AC	p.P199fs*8	Complex - frameshift	Haematopoietic_and_lymphoid_tissue
COSM3759496	c.2177C>A	p.T726K	Substitution - Missense	Large_intestine
COSM4109548	c.542C>T	p.T181I	Substitution - Missense	Stomach
COSM3973668	c.3607G>A	p.A1203T	Substitution - Missense	Central_nervous_system
COSM5946084	c.?_?del?	p.?	Unknown	Urinary_tract
COSM5879954	c.4120_4130del11	p.L1375fs*10	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM255889	c.3725G>T	p.G1242V	Substitution - Missense	Central_nervous_system
COSM3965262	c.3769G>A	p.E1257K	Substitution - Missense	Lung
COSM28815	c.1_4206del4206	p.0?	Whole gene deletion	Pancreas
COSM1756574	c.378C>T	p.Y126Y	Substitution - coding silent	Urinary_tract
COSM5711637	c.414G>T	p.L138F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2965426	c.2846G>T	p.R949L	Substitution - Missense	Lung
COSM5547337	c.980_981delTA	p.Y328fs*35	Deletion - Frameshift	Prostate
COSM5031026	c.?	p.Q753*	Substitution - Nonsense	Central_nervous_system
COSM28779	c.2029C>T	p.Q677*	Substitution - Nonsense	Lung
COSM1179848	c.3111G>A	p.Q1037Q	Substitution - coding silent	Prostate
COSM1315996	c.2529C>A	p.S843R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1331862	c.2857_2858delTT	p.F953fs*25	Deletion - Frameshift	Ovary
COSM2965438	c.3304G>A	p.E1102K	Substitution - Missense	Upper_aerodigestive_tract
COSM2965430	c.2987A>G	p.H996R	Substitution - Missense	Large_intestine
COSM325600	c.2997A>C	p.E999D	Substitution - Missense	Lung
COSM2965368	c.2031G>A	p.Q677Q	Substitution - coding silent	Large_intestine
COSM2965368	c.2031G>A	p.Q677Q	Substitution - coding silent	Large_intestine
COSM328698	c.4205G>C	p.*1402S	Nonstop extension	Liver
COSM5046016	c.3726_3727insCCA	p.P1243_L1244insP	Insertion - In frame	Oesophagus
COSM5879951	c.3788_3789insC	p.V1264fs*27	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM255016	c.1105C>T	p.Q369*	Substitution - Nonsense	Urinary_tract
COSM5835956	c.376delT	p.Y126fs*54	Deletion - Frameshift	Breast
COSM5985540	c.4088_4089insA	p.T1365fs*24	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM255001	c.560T>G	p.L187*	Substitution - Nonsense	Urinary_tract
COSM255002	c.1007A>G	p.D336G	Substitution - Missense	Urinary_tract
COSM5031085	c.3331_3331C>TGGG	p.R1111>WG	Complex - insertion inframe	Haematopoietic_and_lymphoid_tissue
COSM4385373	c.1414C>T	p.Q472*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM2965490	c.4072T>C	p.C1358R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2965461	c.3687G>A	p.Q1229Q	Substitution - coding silent	Upper_aerodigestive_tract
COSM5967295	c.2938+2T>A	p.?	Unknown	Salivary_gland
COSM5982221	c.2232C>T	p.V744V	Substitution - coding silent	Upper_aerodigestive_tract
COSM5948350	c.232_236delCGCTG	p.R78fs*2	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM28786	c.997C>T	p.Q333*	Substitution - Nonsense	Oesophagus
COSM1625901	c.339A>G	p.L113L	Substitution - coding silent	Liver
COSM5031164	c.?	p.Q779fs*9	Frameshift	Thymus
COSM28787	c.2654_2663del10	p.M885fs*10	Deletion - Frameshift	Kidney
COSM1757271	c.3293T>A	p.L1098*	Substitution - Nonsense	Urinary_tract
COSM3939998	c.328C>T	p.P110S	Substitution - Missense	Oesophagus
COSM28780	c.3835C>T	p.R1279*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM99733	c.2502G>T	p.E834D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM255889	c.3725G>T	p.G1242V	Substitution - Missense	Central_nervous_system
COSM216208	c.3940G>T	p.G1314*	Substitution - Nonsense	Central_nervous_system
COSM5351694	c.2938G>T	p.D980Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM255001	c.560T>G	p.L187*	Substitution - Nonsense	Urinary_tract
COSM5031024	c.?	p.G451V	Substitution - Missense	Central_nervous_system
COSM2965347	c.1752G>A	p.T584T	Substitution - coding silent	Stomach
COSM5622512	c.3478G>T	p.G1160C	Substitution - Missense	Oesophagus
COSM2965365	c.1980C>A	p.L660L	Substitution - coding silent	Upper_aerodigestive_tract
COSM1745046	c.1906_1909delCTAT	p.S637fs*53	Deletion - Frameshift	Urinary_tract
COSM4695045	c.3954A>T	p.I1318I	Substitution - coding silent	Large_intestine
COSM1121567	c.300T>C	p.G100G	Substitution - coding silent	Endometrium
COSM5631604	c.493C>A	p.R165R	Substitution - coding silent	Oesophagus
COSM255017	c.1663C>T	p.Q555*	Substitution - Nonsense	Urinary_tract
COSM2965375	c.2199C>A	p.H733Q	Substitution - Missense	Upper_aerodigestive_tract
COSM4853696	c.2462C>G	p.S821*	Substitution - Nonsense	Cervix
COSM4885195	c.1177C>A	p.R393R	Substitution - coding silent	Upper_aerodigestive_tract
COSM1742156	c.4124delT	p.L1375fs*9	Deletion - Frameshift	Urinary_tract
COSM216207	c.3768C>G	p.Y1256*	Substitution - Nonsense	Central_nervous_system
COSM255015	c.378C>G	p.Y126*	Substitution - Nonsense	Urinary_tract
COSM29150	c.3220A>G	p.R1074G	Substitution - Missense	Kidney
COSM28782	c.1787delA	p.N596fs*3	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM253882	c.3341C>A	p.S1114*	Substitution - Nonsense	Urinary_tract
COSM3759496	c.2177C>A	p.T726K	Substitution - Missense	Skin
COSM255009	c.4129C>T	p.Q1377*	Substitution - Nonsense	Urinary_tract
COSM2965383	c.2260A>G	p.M754V	Substitution - Missense	Upper_aerodigestive_tract
COSM4820264	c.2939-1G>A	p.?	Unknown	Cervix
COSM2965365	c.1980C>A	p.L660L	Substitution - coding silent	Upper_aerodigestive_tract
COSM1644700	c.3004A>G	p.T1002A	Substitution - Missense	Salivary_gland
COSM28815	c.1_4206del4206	p.0?	Whole gene deletion	Oesophagus
COSM5751618	c.706A>C	p.N236H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2965365	c.1980C>A	p.L660L	Substitution - coding silent	Upper_aerodigestive_tract
COSM306877	c.2712_2717TAAAAA>TAAAAAA	p.G904fs	Complex	Central_nervous_system
COSM1741828	c.619+3delA	p.?	Unknown	Urinary_tract
COSM5967292	c.3657G>A	p.W1219*	Substitution - Nonsense	Salivary_gland
COSM3965265	c.4005+1G>C	p.?	Unknown	Lung
COSM255005	c.2959A>T	p.K987*	Substitution - Nonsense	Urinary_tract
COSM3992487	c.385-1G>C	p.?	Unknown	Kidney
COSM5045290	c.3467A>C	p.N1156T	Substitution - Missense	Oesophagus
COSM5879918	c.367C>T	p.Q123*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1121604	c.3677_3678insT	p.W1227fs*24	Insertion - Frameshift	Endometrium
COSM1644033	c.3253G>A	p.G1085R	Substitution - Missense	Stomach
COSM2965389	c.2380A>C	p.T794P	Substitution - Missense	Upper_aerodigestive_tract
COSM4884502	c.2212C>T	p.P738S	Substitution - Missense	Upper_aerodigestive_tract
COSM1315519	c.3579G>A	p.W1193*	Substitution - Nonsense	Large_intestine
COSM28790	c.2122G>T	p.G708*	Substitution - Nonsense	Lung
COSM457532	c.3452A>G	p.N1151S	Substitution - Missense	Breast
COSM2965370	c.2040C>T	p.N680N	Substitution - coding silent	Upper_aerodigestive_tract
COSM4168304	c.3337G>C	p.V1113L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2965370	c.2040C>T	p.N680N	Substitution - coding silent	Upper_aerodigestive_tract
COSM4379314	c.2683G>T	p.E895*	Substitution - Nonsense	Upper_aerodigestive_tract
COSM5611318	c.334_334+1GG>AA	p.?	Unknown	Skin
COSM2965457	c.3666A>T	p.A1222A	Substitution - coding silent	Upper_aerodigestive_tract
COSM1745400	c.3276delT	p.D1092fs*12	Deletion - Frameshift	Urinary_tract
COSM5047736	c.775C>A	p.L259M	Substitution - Missense	Oesophagus
COSM5711634	c.65A>G	p.E22G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5030942	c.3938C>T	p.A1313V	Substitution - Missense	Kidney
COSM3734563	c.690delA	p.Q230fs*12	Deletion - Frameshift	Pancreas
COSM5573721	c.3145-1G>A	p.?	Unknown	Prostate
COSM2965393	c.2421T>C	p.V807V	Substitution - coding silent	Upper_aerodigestive_tract
COSM1121571	c.494G>A	p.R165Q	Substitution - Missense	Endometrium
COSM5946084	c.?_?del?	p.?	Unknown	Urinary_tract
COSM29148	c.2312G>A	p.G771D	Substitution - Missense	Kidney
COSM1179848	c.3111G>A	p.Q1037Q	Substitution - coding silent	Soft_tissue
COSM5752702	c.2306C>A	p.S769*	Substitution - Nonsense	Breast
COSM255068	c.2112_2121del10	p.T705fs*7	Deletion - Frameshift	Urinary_tract
COSM1121579	c.1213C>T	p.P405S	Substitution - Missense	Endometrium
COSM28793	c.4161_4162delTG	p.Y1387fs*1	Deletion - Frameshift	Kidney
COSM212434	c.3763C>T	p.R1255W	Substitution - Missense	Stomach
COSM4435899	c.3946G>C	p.E1316Q	Substitution - Missense	Oesophagus
COSM305319	c.618_619+2delAAGT	p.?	Unknown	Breast
COSM255006	c.3397C>T	p.Q1133*	Substitution - Nonsense	Urinary_tract
COSM255006	c.3397C>T	p.Q1133*	Substitution - Nonsense	Urinary_tract
COSM5031086	c.3337_3342GTATCA>TTGCGGCATCTGTTTCAA	p.V1113_S1114>LRHLFQ	Complex - insertion inframe	Haematopoietic_and_lymphoid_tissue
COSM5016758	c.1239_1240delTA	p.K414fs*4	Deletion - Frameshift	Kidney
COSM305319	c.618_619+2delAAGT	p.?	Unknown	Soft_tissue
COSM403544	c.1999C>T	p.Q667*	Substitution - Nonsense	Lung
COSM1179848	c.3111G>A	p.Q1037Q	Substitution - coding silent	Soft_tissue
COSM5025093	c.1847_1850delCTCT	p.T616fs*8	Deletion - Frameshift	Breast
COSM1121569	c.389C>A	p.A130D	Substitution - Missense	Endometrium
COSM5967293	c.2671_2672insAT	p.P891fs*8	Insertion - Frameshift	Salivary_gland
COSM1315521	c.3879-1G>A	p.?	Unknown	Urinary_tract
COSM1490968	c.1547_1548insA	p.Q517fs*9	Insertion - Frameshift	Breast
COSM1625905	c.4005+2T>G	p.?	Unknown	Liver
COSM5044490	c.3218G>A	p.R1073K	Substitution - Missense	Kidney
COSM255012	c.3582G>A	p.W1194*	Substitution - Nonsense	Urinary_tract
COSM255010	c.2897C>G	p.P966R	Substitution - Missense	Urinary_tract
COSM462232	c.3337G>A	p.V1113I	Substitution - Missense	Large_intestine
COSM404450	c.353G>A	p.R118K	Substitution - Missense	Lung
COSM5879934	c.1244_1246delTAC	p.L415_L416>F	Complex - deletion inframe	Haematopoietic_and_lymphoid_tissue
COSM306877	c.2712_2717TAAAAA>TAAAAAA	p.G904fs	Complex	Central_nervous_system
COSM1732167	c.113delC	p.S40fs*2	Deletion - Frameshift	Kidney
COSM4411955	c.4176+1G>T	p.?	Unknown	Urinary_tract
COSM212434	c.3763C>T	p.R1255W	Substitution - Missense	Endometrium
COSM1732167	c.113delC	p.S40fs*2	Deletion - Frameshift	Kidney
COSM306879	c.2776_2777TC>T	p.S926fs	Complex	Central_nervous_system
COSM5986628	c.579_580insCGGC	p.L194fs*4	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM2965373	c.2171T>C	p.I724T	Substitution - Missense	Upper_aerodigestive_tract
COSM4470457	c.1661C>T	p.S554F	Substitution - Missense	Skin
COSM28808	c.385-?_654+?del	p.?	Unknown	Oesophagus
COSM2965370	c.2040C>T	p.N680N	Substitution - coding silent	Upper_aerodigestive_tract
COSM1121577	c.711T>G	p.L237L	Substitution - coding silent	Endometrium
COSM4411947	c.?	p.L41fs*17	Unknown	Urinary_tract
COSM29150	c.3220A>G	p.R1074G	Substitution - Missense	Kidney
COSM255001	c.560T>G	p.L187*	Substitution - Nonsense	Urinary_tract
COSM3372269	c.2302A>G	p.K768E	Substitution - Missense	Thyroid
COSM2965442	c.3331C>T	p.R1111C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM28786	c.997C>T	p.Q333*	Substitution - Nonsense	Salivary_gland
COSM28783	c.2090delA	p.N697fs*18	Deletion - Frameshift	Kidney
COSM255007	c.3341C>T	p.S1114L	Substitution - Missense	Urinary_tract
COSM5879945	c.3408G>C	p.M1136I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM28786	c.997C>T	p.Q333*	Substitution - Nonsense	Oesophagus
COSM4449937	c.3879-2A>T	p.?	Unknown	Skin
COSM2965302	c.394delT	p.L133fs*47	Deletion - Frameshift	Large_intestine
COSM422562	c.3060C>T	p.I1020I	Substitution - coding silent	Urinary_tract
COSM2965391	c.2416G>A	p.A806T	Substitution - Missense	Upper_aerodigestive_tract
COSM5494275	c.2009A>G	p.Q670R	Substitution - Missense	Biliary_tract
COSM1319435	c.4006-1G>A	p.?	Unknown	Pancreas
COSM5982221	c.2232C>T	p.V744V	Substitution - coding silent	Upper_aerodigestive_tract
COSM3364006	c.89C>T	p.A30V	Substitution - Missense	Kidney
COSM1625905	c.4005+2T>G	p.?	Unknown	Liver
COSM1756575	c.884C>G	p.S295*	Substitution - Nonsense	Urinary_tract
COSM255011	c.2324C>G	p.S775*	Substitution - Nonsense	Urinary_tract
COSM4787822	c.853C>T	p.Q285*	Substitution - Nonsense	Liver
COSM5711658	c.3028G>T	p.E1010*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1757270	c.1125C>T	p.Y375Y	Substitution - coding silent	Urinary_tract
COSM2965428	c.2894A>C	p.N965T	Substitution - Missense	Large_intestine
COSM2965365	c.1980C>A	p.L660L	Substitution - coding silent	Upper_aerodigestive_tract
COSM1756576	c.3685C>T	p.Q1229*	Substitution - Nonsense	Urinary_tract
COSM3965259	c.3764G>T	p.R1255L	Substitution - Missense	Lung
COSM5945501	c.181A>T	p.R61*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM240332	c.2443G>A	p.V815I	Substitution - Missense	Prostate
COSM2965308	c.477T>C	p.V159V	Substitution - coding silent	Upper_aerodigestive_tract
COSM255012	c.3582G>A	p.W1194*	Substitution - Nonsense	Urinary_tract
COSM255013	c.349C>T	p.Q117*	Substitution - Nonsense	Urinary_tract
COSM1179848	c.3111G>A	p.Q1037Q	Substitution - coding silent	Soft_tissue
COSM3844733	c.329C>G	p.P110R	Substitution - Missense	Breast
COSM5711640	c.469_470insT	p.Y158fs*3	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM28801	c.226-?_654+?del	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1121600	c.3336C>T	p.V1112V	Substitution - coding silent	Endometrium
COSM5367064	c.4194C>T	p.S1398S	Substitution - coding silent	Large_intestine
COSM1468060	c.1444G>A	p.A482T	Substitution - Missense	Large_intestine
COSM4385385	c.3143G>A	p.R1048K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1756575	c.884C>G	p.S295*	Substitution - Nonsense	Urinary_tract
COSM422561	c.4009G>T	p.E1337*	Substitution - Nonsense	Urinary_tract
COSM4385379	c.1937G>A	p.G646D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5945504	c.1516C>T	p.Q506*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM3770172	c.2670C>G	p.Y890*	Substitution - Nonsense	Soft_tissue
COSM1315514	c.832G>T	p.E278*	Substitution - Nonsense	Urinary_tract
COSM5751644	c.1369C>AC	p.H457fs*28	Complex - frameshift	Haematopoietic_and_lymphoid_tissue
COSM216209	c.4138_4139insA	p.M1380fs*9	Insertion - Frameshift	Central_nervous_system
COSM3844739	c.3758T>G	p.V1253G	Substitution - Missense	Breast
COSM2965310	c.493C>T	p.R165*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM389731	c.1616C>G	p.S539C	Substitution - Missense	Lung
COSM255017	c.1663C>T	p.Q555*	Substitution - Nonsense	Urinary_tract
COSM28803	c.1-?_225+?del	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1255502	c.3598C>T	p.L1200F	Substitution - Missense	Oesophagus
COSM5950377	c.2832+1G>T	p.?	Unknown	Prostate
COSM99735	c.2372A>G	p.N791S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM255017	c.1663C>T	p.Q555*	Substitution - Nonsense	Urinary_tract
COSM3728129	c.3637C>T	p.R1213*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM255372	c.894delG	p.V300fs*25	Deletion - Frameshift	Central_nervous_system
COSM2965365	c.1980C>A	p.L660L	Substitution - coding silent	Upper_aerodigestive_tract
COSM1745410	c.3886_3895del10	p.L1297fs*1	Deletion - Frameshift	Urinary_tract
COSM255016	c.1105C>T	p.Q369*	Substitution - Nonsense	Urinary_tract
COSM757232	c.2833-2A>G	p.?	Unknown	Lung
COSM3759496	c.2177C>A	p.T726K	Substitution - Missense	Soft_tissue
COSM4490068	c.3575C>T	p.S1192F	Substitution - Missense	Skin
COSM5045014	c.1_4206del4206	p.0?	Whole gene deletion	Central_nervous_system
COSM302471	c.3154_3155insA	p.R1054fs*5	Insertion - Frameshift	Breast
COSM28795	c.975-1G>T	p.?	Unknown	Kidney
COSM28793	c.4161_4162delTG	p.Y1387fs*1	Deletion - Frameshift	Kidney
COSM2965472	c.3822C>T	p.S1274S	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM5547131	c.1856_1857delAT	p.H619fs*19	Deletion - Frameshift	Prostate
COSM5031023	c.?	p.S769*	Substitution - Nonsense	Central_nervous_system
COSM4993534	c.2047C>T	p.P683S	Substitution - Missense	Skin
COSM4787822	c.853C>T	p.Q285*	Substitution - Nonsense	Liver
COSM255004	c.3668G>A	p.G1223D	Substitution - Missense	Urinary_tract
COSM1179848	c.3111G>A	p.Q1037Q	Substitution - coding silent	Soft_tissue
COSM2965452	c.3600T>A	p.L1200L	Substitution - coding silent	Upper_aerodigestive_tract
COSM1319437	c.997C>A	p.Q333K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1179848	c.3111G>A	p.Q1037Q	Substitution - coding silent	Soft_tissue
COSM488383	c.2076G>A	p.Q692Q	Substitution - coding silent	Kidney
COSM5961646	c.3475A>G	p.I1159V	Substitution - Missense	Adrenal_gland
COSM1315522	c.4074C>A	p.C1358*	Substitution - Nonsense	Urinary_tract
COSM28815	c.1_4206del4206	p.0?	Whole gene deletion	Breast
COSM305319	c.618_619+2delAAGT	p.?	Unknown	Breast
COSM28777	c.514C>T	p.R172*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM3770519	c.3035G>A	p.W1012*	Substitution - Nonsense	Soft_tissue
COSM3759496	c.2177C>A	p.T726K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3992490	c.1576G>T	p.G526W	Substitution - Missense	Pancreas
COSM1315512	c.439C>T	p.Q147*	Substitution - Nonsense	Urinary_tract
COSM4109554	c.1646G>C	p.R549T	Substitution - Missense	Stomach
COSM3694591	c.661T>C	p.Y221H	Substitution - Missense	Large_intestine
COSM3780480	c.4176+2T>C	p.?	Unknown	Pancreas
COSM4172504	c.?	p.T726K	Substitution - Missense	Skin
COSM2965355	c.1818C>T	p.N606N	Substitution - coding silent	Cervix
COSM1717558	c.1556G>C	p.R519P	Substitution - Missense	Ovary
COSM5575859	c.2156A>C	p.K719T	Substitution - Missense	Stomach
COSM99736	c.1324C>T	p.Q442*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1121585	c.2019C>T	p.G673G	Substitution - coding silent	Endometrium
COSM2965306	c.447A>T	p.A149A	Substitution - coding silent	Upper_aerodigestive_tract
COSM5550858	c.3491G>C	p.C1164S	Substitution - Missense	Prostate
COSM1121607	c.4028T>G	p.F1343C	Substitution - Missense	Endometrium
COSM5936800	c.3052A>G	p.K1018E	Substitution - Missense	Skin
COSM255006	c.3397C>T	p.Q1133*	Substitution - Nonsense	Urinary_tract
COSM255010	c.2897C>G	p.P966R	Substitution - Missense	Urinary_tract
COSM2152576	c.3700T>G	p.C1234G	Substitution - Missense	Central_nervous_system
COSM2965485	c.3941_3942insA	p.E1316fs*17	Insertion - Frameshift	Large_intestine
COSM5982221	c.2232C>T	p.V744V	Substitution - coding silent	Upper_aerodigestive_tract
COSM255002	c.1007A>G	p.D336G	Substitution - Missense	Urinary_tract
COSM255007	c.3341C>T	p.S1114L	Substitution - Missense	Urinary_tract
COSM1717558	c.1556G>C	p.R519P	Substitution - Missense	Central_nervous_system
COSM2965377	c.2202T>G	p.T734T	Substitution - coding silent	Kidney
COSM302471	c.3154_3155insA	p.R1054fs*5	Insertion - Frameshift	Central_nervous_system
COSM2965465	c.3710T>A	p.I1237N	Substitution - Missense	Stomach
COSM1644034	c.3737-6_3737-5delTC	p.?	Unknown	Stomach
COSM2965411	c.2574G>A	p.G858G	Substitution - coding silent	Upper_aerodigestive_tract
COSM5031082	c.3337_3337G>TCC	p.V1113fs*8	Complex - frameshift	Haematopoietic_and_lymphoid_tissue
COSM4695042	c.3942delA	p.E1316fs*40	Deletion - Frameshift	Large_intestine
COSM4695036	c.2548G>T	p.G850W	Substitution - Missense	Large_intestine
COSM4695033	c.2358A>G	p.G786G	Substitution - coding silent	Large_intestine
COSM5003816	c.550G>T	p.E184*	Substitution - Nonsense	Pancreas
COSM255069	c.3144_3144+3delAGTA	p.?	Unknown	Urinary_tract
COSM3800609	c.4012G>T	p.V1338F	Substitution - Missense	Urinary_tract
COSM3800609	c.4012G>T	p.V1338F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM757233	c.2832+1G>A	p.?	Unknown	Lung
COSM5609218	c.521G>A	p.G174E	Substitution - Missense	Skin
COSM3766951	c.815A>T	p.Y272F	Substitution - Missense	Liver
COSM1757271	c.3293T>A	p.L1098*	Substitution - Nonsense	Urinary_tract
COSM216205	c.2717_2718insA	p.N906fs*5	Insertion - Frameshift	Central_nervous_system
COSM1121589	c.2293G>T	p.G765*	Substitution - Nonsense	Endometrium
COSM1162420	c.3115C>G	p.Q1039E	Substitution - Missense	Pancreas
COSM255007	c.3341C>T	p.S1114L	Substitution - Missense	Urinary_tract
COSM255015	c.378C>G	p.Y126*	Substitution - Nonsense	Urinary_tract
COSM4385373	c.1414C>T	p.Q472*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM255005	c.2959A>T	p.K987*	Substitution - Nonsense	Urinary_tract
COSM1742271	c.334+1G>T	p.?	Unknown	Urinary_tract
COSM5048224	c.2125delC	p.Q709fs*6	Deletion - Frameshift	Oesophagus
COSM2965370	c.2040C>T	p.N680N	Substitution - coding silent	Upper_aerodigestive_tract
COSM255013	c.349C>T	p.Q117*	Substitution - Nonsense	Urinary_tract
COSM255017	c.1663C>T	p.Q555*	Substitution - Nonsense	Urinary_tract
COSM5031027	c.?	p.W1258*	Substitution - Nonsense	Central_nervous_system
COSM1194830	c.3717G>T	p.W1239C	Substitution - Missense	Lung
COSM255008	c.1528-1G>C	p.?	Unknown	Urinary_tract
COSM28795	c.975-1G>T	p.?	Unknown	Salivary_gland
COSM5025087	c.1850T>A	p.L617Q	Substitution - Missense	Breast
COSM5623700	c.995A>G	p.N332S	Substitution - Missense	Oesophagus
COSM4777513	c.2744T>C	p.L915S	Substitution - Missense	Breast
COSM4621262	c.855G>T	p.Q285H	Substitution - Missense	Large_intestine
COSM5611315	c.128_129CC>TT	p.A43V	Substitution - Missense	Skin
COSM3406385	c.2355G>A	p.M785I	Substitution - Missense	Central_nervous_system
COSM757235	c.1555C>T	p.R519*	Substitution - Nonsense	Oesophagus
COSM2965468	c.3786A>G	p.Q1262Q	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM1636549	c.1460T>G	p.L487*	Substitution - Nonsense	Liver
COSM28781	c.117delC	p.S40fs*2	Deletion - Frameshift	Large_intestine
COSM255003	c.3517T>A	p.Y1173N	Substitution - Missense	Urinary_tract
COSM255290	c.2966T>A	p.L989*	Substitution - Nonsense	Central_nervous_system
COSM255658	c.3434G>A	p.G1145D	Substitution - Missense	Central_nervous_system
COSM2965461	c.3687G>A	p.Q1229Q	Substitution - coding silent	Upper_aerodigestive_tract
COSM3992493	c.1577G>A	p.G526E	Substitution - Missense	Kidney
COSM5345999	c.1142G>T	p.S381I	Substitution - Missense	Large_intestine
COSM255010	c.2897C>G	p.P966R	Substitution - Missense	Urinary_tract
COSM255252	c.3536_3548+1delACTTCTGTGAAAAG	p.?	Unknown	Central_nervous_system
COSM3800609	c.4012G>T	p.V1338F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2965450	c.3588T>C	p.N1196N	Substitution - coding silent	Upper_aerodigestive_tract
COSM2965432	c.3085C>T	p.H1029Y	Substitution - Missense	Lung
COSM5945519	c.3973G>T	p.E1325*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1121573	c.502G>T	p.E168*	Substitution - Nonsense	Endometrium
COSM3668735	c.948A>T	p.A316A	Substitution - coding silent	Liver
COSM5045015	c.385-?_1329+?del	p.?	Unknown	Central_nervous_system
COSM1132299	c.2960A>G	p.K987R	Substitution - Missense	Prostate
COSM255012	c.3582G>A	p.W1194*	Substitution - Nonsense	Urinary_tract
COSM255004	c.3668G>A	p.G1223D	Substitution - Missense	Urinary_tract
COSM1490967	c.1509C>G	p.V503V	Substitution - coding silent	Breast
COSM5348613	c.1554_1555insA	p.R519fs*7	Insertion - Frameshift	Liver
COSM5985479	c.2477C>T	p.A826V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM757233	c.2832+1G>A	p.?	Unknown	Endometrium
COSM2152576	c.3700T>G	p.C1234G	Substitution - Missense	Thyroid
COSM2965389	c.2380A>C	p.T794P	Substitution - Missense	Upper_aerodigestive_tract
COSM3724864	c.2807T>C	p.L936S	Substitution - Missense	Lung
COSM216867	c.1819G>A	p.V607M	Substitution - Missense	Pancreas
COSM29148	c.2312G>A	p.G771D	Substitution - Missense	Kidney
COSM5711664	c.3589C>A	p.L1197I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM255075	c.2104_2105insA	p.H702fs*28	Insertion - Frameshift	Urinary_tract
COSM355510	c.2889G>C	p.P963P	Substitution - coding silent	Lung
COSM5031047	c.3701G>A	p.C1234Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5982786	c.3565C>T	p.L1189L	Substitution - coding silent	Upper_aerodigestive_tract
COSM2965409	c.2553A>G	p.L851L	Substitution - coding silent	Upper_aerodigestive_tract
COSM2965387	c.2364C>T	p.A788A	Substitution - coding silent	Upper_aerodigestive_tract
COSM3390649	c.3646G>A	p.D1216N	Substitution - Missense	Oesophagus
COSM4168310	c.3337_3338insAT	p.V1113fs*8	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4849276	c.748+1G>A	p.?	Unknown	Cervix
COSM4853260	c.2441C>T	p.S814F	Substitution - Missense	Cervix
COSM5631206	c.600C>A	p.C200*	Substitution - Nonsense	Oesophagus
COSM28788	c.3445_3446delAA	p.N1149fs*1	Deletion - Frameshift	Kidney
COSM1625903	c.963G>A	p.W321*	Substitution - Nonsense	Liver
COSM5946034	c.3422_3423insC	p.R1142fs*9	Insertion - Frameshift	Urinary_tract
COSM216867	c.1819G>A	p.V607M	Substitution - Missense	Large_intestine
COSM28801	c.226-?_654+?del	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4767597	c.901C>T	p.Q301*	Substitution - Nonsense	Biliary_tract
COSM5885148	c.3877_3878insAG	p.Y1294fs*5	Insertion - Frameshift	Urinary_tract
COSM29149	c.2929C>A	p.L977I	Substitution - Missense	Kidney
COSM4797487	c.3725G>A	p.G1242D	Substitution - Missense	Liver
COSM5609215	c.777G>T	p.L259L	Substitution - coding silent	Skin
COSM1741513	c.384+1G>A	p.?	Unknown	Urinary_tract
COSM4433254	c.3060C>G	p.I1020M	Substitution - Missense	Oesophagus
COSM2965442	c.3331C>T	p.R1111C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2965373	c.2171T>C	p.I724T	Substitution - Missense	Upper_aerodigestive_tract
COSM1714901	c.1789C>T	p.H597Y	Substitution - Missense	Skin
COSM255017	c.1663C>T	p.Q555*	Substitution - Nonsense	Urinary_tract
COSM329669	c.226-6delT	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4385368	c.890T>C	p.I297T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2965457	c.3666A>T	p.A1222A	Substitution - coding silent	Upper_aerodigestive_tract
COSM2965438	c.3304G>A	p.E1102K	Substitution - Missense	Biliary_tract
COSM4385362	c.233G>A	p.R78H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM28803	c.1-?_225+?del	p.?	Unknown	Oesophagus
COSM4854457	c.2021C>A	p.S674Y	Substitution - Missense	Cervix
COSM757236	c.649A>G	p.T217A	Substitution - Missense	Lung
COSM2965391	c.2416G>A	p.A806T	Substitution - Missense	Upper_aerodigestive_tract
COSM5752793	c.1630_1631insA	p.L545fs*8	Insertion - Frameshift	Breast
COSM28800	c.444-?_564+?del	p.?	Unknown	Breast
COSM5049526	c.2450C>T	p.S817F	Substitution - Missense	Oesophagus
COSM5472881	c.1972C>T	p.R658*	Substitution - Nonsense	Large_intestine
COSM1121581	c.1246C>T	p.L416F	Substitution - Missense	Endometrium
COSM2965361	c.1940A>C	p.Q647P	Substitution - Missense	Upper_aerodigestive_tract
COSM5031083	c.3337_3338insCTACC	p.V1113fs*9	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM2965389	c.2380A>C	p.T794P	Substitution - Missense	Upper_aerodigestive_tract
COSM5879948	c.3626_3627insTCTGCA	p.R1209>SLQ	Complex - insertion inframe	Haematopoietic_and_lymphoid_tissue
COSM4411949	c.?	p.S1284*	Substitution - Nonsense	Urinary_tract
COSM2965383	c.2260A>G	p.M754V	Substitution - Missense	Upper_aerodigestive_tract
COSM4379280	c.1792A>G	p.I598V	Substitution - Missense	Soft_tissue
COSM5945513	c.3832G>A	p.A1278T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5031084	c.3338_3339ins10	p.S1114fs*40	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5031077	c.3336_3342CGTATCA>GGCTAATAG	p.V1113fs*8	Complex - frameshift	Haematopoietic_and_lymphoid_tissue
COSM5031076	c.3337_3338insGGTGTCG	p.V1113fs*40	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM2965387	c.2364C>T	p.A788A	Substitution - coding silent	Lung
COSM2965438	c.3304G>A	p.E1102K	Substitution - Missense	Stomach
COSM5031080	c.335-8_335-7CC>GA	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1121596	c.2911C>T	p.R971C	Substitution - Missense	Prostate
COSM28793	c.4161_4162delTG	p.Y1387fs*1	Deletion - Frameshift	Kidney
COSM2965370	c.2040C>T	p.N680N	Substitution - coding silent	Upper_aerodigestive_tract
COSM4411948	c.?	p.N1070fs*13	Unknown	Urinary_tract
COSM1179001	c.4034delC	p.T1345fs*11	Deletion - Frameshift	Prostate
COSM2965373	c.2171T>C	p.I724T	Substitution - Missense	Upper_aerodigestive_tract
COSM28789	c.869_870insT	p.G291fs*22	Insertion - Frameshift	Lung
COSM28779	c.2029C>T	p.Q677*	Substitution - Nonsense	Cervix
COSM5351706	c.3022G>T	p.A1008S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4109558	c.1961C>G	p.P654R	Substitution - Missense	Stomach
COSM255015	c.378C>G	p.Y126*	Substitution - Nonsense	Urinary_tract
COSM4411954	c.3434-1G>A	p.?	Unknown	Urinary_tract
COSM28795	c.975-1G>T	p.?	Unknown	Kidney
COSM2965351	c.1780G>T	p.G594C	Substitution - Missense	Endometrium
COSM28815	c.1_4206del4206	p.0?	Whole gene deletion	Breast
COSM4475489	c.1993C>T	p.P665S	Substitution - Missense	Skin
COSM1490969	c.4176+1G>C	p.?	Unknown	Breast
COSM1315513	c.571C>T	p.Q191*	Substitution - Nonsense	Urinary_tract
COSM2965373	c.2171T>C	p.I724T	Substitution - Missense	Upper_aerodigestive_tract
COSM1644699	c.4124T>C	p.L1375P	Substitution - Missense	Salivary_gland
COSM255008	c.1528-1G>C	p.?	Unknown	Urinary_tract
COSM5094786	c.2084_2099del16	p.N697fs*13	Deletion - Frameshift	Thymus
COSM3561749	c.3319C>T	p.P1107S	Substitution - Missense	Skin
COSM5031051	c.3336_3337ins10	p.V1113fs*41	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM2965494	c.4160A>G	p.Y1387C	Substitution - Missense	Soft_tissue
COSM1468059	c.1364_1365insG	p.S456fs*29	Insertion - Frameshift	Large_intestine
COSM5945510	c.2503C>T	p.Q835*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4411951	c.?	p.F289fs*36	Unknown	Urinary_tract
COSM4385391	c.3827A>G	p.N1276S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5982221	c.2232C>T	p.V744V	Substitution - coding silent	Upper_aerodigestive_tract
COSM255003	c.3517T>A	p.Y1173N	Substitution - Missense	Urinary_tract
COSM1625903	c.963G>A	p.W321*	Substitution - Nonsense	Breast
COSM5030943	c.1124A>G	p.Y375C	Substitution - Missense	Kidney
COSM2965370	c.2040C>T	p.N680N	Substitution - coding silent	Upper_aerodigestive_tract
COSM255251	c.1077_1078insG	p.T360fs*4	Insertion - Frameshift	Central_nervous_system
COSM216867	c.1819G>A	p.V607M	Substitution - Missense	Pancreas
COSM306878	c.4134_4138CAAAA>CAAAAA	p.Y1378fs	Complex	Central_nervous_system
COSM4385376	c.1859A>T	p.N620I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4411946	c.?	p.Q635*	Substitution - Nonsense	Urinary_tract
COSM1625903	c.963G>A	p.W321*	Substitution - Nonsense	Breast
COSM99737	c.2765G>A	p.R922K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4982901	c.2909T>A	p.I970K	Substitution - Missense	Oesophagus
COSM373421	c.2938_2938+1GG>TT	p.?	Unknown	Lung
COSM3780474	c.3498G>A	p.W1166*	Substitution - Nonsense	Pancreas
COSM2965365	c.1980C>A	p.L660L	Substitution - coding silent	Upper_aerodigestive_tract
COSM2965485	c.3941_3942insA	p.E1316fs*17	Insertion - Frameshift	Large_intestine
COSM1255501	c.4176+1G>A	p.?	Unknown	Prostate
COSM2965375	c.2199C>A	p.H733Q	Substitution - Missense	Upper_aerodigestive_tract
COSM2965434	c.3150A>G	p.E1050E	Substitution - coding silent	Large_intestine
COSM4800499	c.1024A>T	p.I342F	Substitution - Missense	Liver
COSM1644698	c.3799A>G	p.I1267V	Substitution - Missense	Salivary_gland
COSM212434	c.3763C>T	p.R1255W	Substitution - Missense	Breast
COSM26005	c.3930C>A	p.L1310L	Substitution - coding silent	Kidney
COSM255005	c.2959A>T	p.K987*	Substitution - Nonsense	Urinary_tract
COSM3561752	c.3805C>T	p.P1269S	Substitution - Missense	Skin
COSM255003	c.3517T>A	p.Y1173N	Substitution - Missense	Urinary_tract
COSM4424611	c.2162delC	p.S721fs*1	Deletion - Frameshift	Oesophagus
COSM1255501	c.4176+1G>A	p.?	Unknown	Oesophagus
COSM5347569	c.2185_2198del14	p.E729fs*6	Deletion - Frameshift	Liver
COSM5031022	c.?_?delA	p.?fs	Deletion - Frameshift	Central_nervous_system
COSM2965373	c.2171T>C	p.I724T	Substitution - Missense	Upper_aerodigestive_tract
COSM28792	c.646G>T	p.E216*	Substitution - Nonsense	Oesophagus
COSM2965306	c.447A>T	p.A149A	Substitution - coding silent	Upper_aerodigestive_tract
COSM1686836	c.655-1G>A	p.?	Unknown	Skin
COSM2965385	c.2264C>T	p.T755M	Substitution - Missense	Upper_aerodigestive_tract
COSM4433731	c.2378G>C	p.G793A	Substitution - Missense	Oesophagus
COSM4993531	c.1334C>T	p.T445I	Substitution - Missense	Skin
COSM5711652	c.2467_2468insTT	p.S824fs*44	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4429728	c.3502G>T	p.V1168F	Substitution - Missense	Oesophagus
COSM1682569	c.3614T>G	p.V1205G	Substitution - Missense	Large_intestine
COSM3844742	c.3766T>C	p.Y1256H	Substitution - Missense	Breast
COSM5761400	c.2007delC	p.Q670fs*21	Deletion - Frameshift	Pancreas
COSM4434112	c.1065G>A	p.W355*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1180446	c.2880T>G	p.C960W	Substitution - Missense	Prostate
COSM1468071	c.3472A>C	p.N1158H	Substitution - Missense	Prostate
COSM2965393	c.2421T>C	p.V807V	Substitution - coding silent	Upper_aerodigestive_tract
COSM3939995	c.301C>G	p.H101D	Substitution - Missense	Oesophagus
COSM255014	c.2995G>T	p.E999*	Substitution - Nonsense	Urinary_tract
COSM1173586	c.1178G>A	p.R393Q	Substitution - Missense	Oesophagus
COSM216207	c.3768C>G	p.Y1256*	Substitution - Nonsense	Central_nervous_system
COSM2965389	c.2380A>C	p.T794P	Substitution - Missense	Upper_aerodigestive_tract
COSM5751944	c.2646delA	p.P883fs*15	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5752716	c.3736+1G>C	p.?	Unknown	Breast
COSM5985482	c.2773T>A	p.S925T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM28778	c.1621C>T	p.Q541*	Substitution - Nonsense	Kidney
COSM1734601	c.2738_2739insT	p.L914fs*4	Insertion - Frameshift	Pancreas
COSM5751771	c.2720_2721insT	p.S909fs*2	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM255070	c.3351_3353delTCT	p.L1119delL	Deletion - In frame	Urinary_tract
COSM28807	c.1-?_1923+?del	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM212434	c.3763C>T	p.R1255W	Substitution - Missense	Pancreas
COSM1682569	c.3614T>G	p.V1205G	Substitution - Missense	Large_intestine
COSM5982506	c.3649T>C	p.L1217L	Substitution - coding silent	Upper_aerodigestive_tract
COSM5676962	c.999G>A	p.Q333Q	Substitution - coding silent	Soft_tissue
COSM255011	c.2324C>G	p.S775*	Substitution - Nonsense	Urinary_tract
COSM1732176	c.40_42delGCC	p.A17delA	Deletion - In frame	Kidney
COSM2965459	c.3669C>T	p.G1223G	Substitution - coding silent	Large_intestine
COSM28815	c.1_4206del4206	p.0?	Whole gene deletion	Breast
COSM4881972	c.554C>G	p.S185C	Substitution - Missense	Upper_aerodigestive_tract
COSM4411950	c.?	p.G526fs*2	Unknown	Urinary_tract
COSM1121575	c.576A>G	p.L192L	Substitution - coding silent	Endometrium
COSM4385371	c.1310C>T	p.A437V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM29180	c.3736+1G>A	p.?	Unknown	Endometrium
COSM255075	c.2104_2105insA	p.H702fs*28	Insertion - Frameshift	Urinary_tract
COSM5987121	c.1921C>T	p.Q641*	Substitution - Nonsense	Salivary_gland
COSM255009	c.4129C>T	p.Q1377*	Substitution - Nonsense	Urinary_tract
COSM5711661	c.3439C>A	p.Q1147K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2965370	c.2040C>T	p.N680N	Substitution - coding silent	Upper_aerodigestive_tract
COSM5609224	c.750T>C	p.G250G	Substitution - coding silent	Skin
COSM255009	c.4129C>T	p.Q1377*	Substitution - Nonsense	Urinary_tract
COSM5801861	c.1631_1632insA	p.L545fs*8	Insertion - Frameshift	Breast
COSM2965387	c.2364C>T	p.A788A	Substitution - coding silent	Upper_aerodigestive_tract
COSM28795	c.975-1G>T	p.?	Unknown	Kidney
COSM2965452	c.3600T>A	p.L1200L	Substitution - coding silent	Upper_aerodigestive_tract
COSM4411953	c.3209+1G>A	p.?	Unknown	Urinary_tract
COSM28777	c.514C>T	p.R172*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue

> Text Mining based Variations

[ TOP ]

PMID	Variation	Cancer	Evidence
27533081	Mutation; copy number loss	Bladder Urothelial Carcinoma	We performed target capture sequencing on 128 genes in 40 non-metastatic UBC patients. UTX was the most frequently mutated gene (30%, 12/40). Of the genetic alterations identified, 75% were truncating mutations. UTY copy number loss was detected in 8 male patients (22.8%, 8/35). Of the 9 male patients with UTX mutations, 6 also had copy number loss (66.7%).
27270441	Mutation	Bladder Carcinoma	Here, we sequenced the exomes of 25 bladder cancer (BCa) cell lines and compared mutations, copy number alterations (CNAs), gene expression and drug response to BCa patient profiles in The Cancer Genome Atlas (TCGA). Non-silent sequence alterations were confirmed in 76 cancer-associated genes, including mutations that likely activate oncogenes TERT and PIK3CA, and alter chromatin-associated proteins (MLL3, ARID1A, CHD6 and KDM6A) and established BCa genes (TP53, RB1, CDKN2A and TSC1).
27235425	Mutation	Plasma Cell Myeloma	In diagnostic myeloma patient samples, we identify significant mutations in genes encoding the histone 1 linker protein, previously identified in other B-cell malignancies. Our data suggest an adverse prognostic impact from the presence of lesions in genes encoding DNA methylation modifiers and the histone demethylase KDM6A/UTX The frequency of mutations in epigenetic modifiers appears to increase following treatment most notably in genes encoding histone methyltransferases and DNA methylation modifiers.
26684240	Mutation	Gastroenteropancreatic Neuroendocrine Tumor	Here, we performed whole exome sequencing of 12 GEP-NETs from patients enrolled in a nonrandomized, open-labeled, single-center phase II study for pazopanib, and integrated our results with previously published results on pancreas (n = 12) and small intestine NETs (n = 50). The mean numbers of somatic mutations in each case varied widely from 20 to 4682. Among 12 GEP-NETs, eight showed mutations of more than one cancer-related gene, including TP53, CNBD1, RB1, APC, BCOR, BRAF, CTNNB1, EGFR, EP300, ERBB3, KDM6A, KRAS, MGA, MLL3, PTEN, RASA1, SMARCB1, SPEN, TBC1D12, and VHL.
26341229	Mutation	Spinal Cord Ependymoma	Two causative genes have been identified in patients with Kabuki syndrome. Mutation of KMT2D (MLL2) was identified in 55-80% of patients, while 9-14% of KMT2D negative patients have mutation in KDM6A gene.
26027790	Mutation	hematologic cancers	Perturbation of such functional crosstalk caused by genetic events observed in various hematologic cancers, such as inactivation of SNF5 and somatic mutation of UTX, confers PRC2 dependence, thus rendering an increased sensitivity to PRC2 inhibition.
25873528	Mutation	Clear cell Renal Cell Carcinoma	JARID1C and UTX, two histone H3 demethylases, were also found to harbor mutations in ccRCC, albeit at lower rates.
25320243	Mutation	T-cell Acute Lymphoblastic Leukemia	Interestingly, UTX mutations were exclusively present in male T-ALL patients and allelic expression analysis revealed that UTX escapes X-inactivation in female T-ALL lymphoblasts and normal T cells.
25275298	Mutation; copy number change	Head and Neck Squamous Cell Carcinoma	This analysis also revealed that most HNSCC cells harbor multiple mutations and CNVs in epigenetic modifiers (e.g., EP300, CREBP, MLL1, MLL2, MLL3, KDM6A, and KDM6B) that may contribute to HNSCC initiation and progression.
25225064	Mutation; Underexpression	Bladder Carcinoma	BAP1 and KDM6A mutations significantly co-occurred in tumors. Somatic variants altering the TERT promoter were found in 69% of tumors but were not correlated with alterations in other bladder cancer genes. We examined the function of KDM6A, altered in 24% of tumors, and show depletion in human bladder cancer cells, enhanced in vitro proliferation, in vivo tumor growth, and cell migration.
24908143	Mutation	Soft Tissue Sarcoma	Additional frameshift mutations, deletion mutations, and single-nucleotide variants involving numerous genes, including RB1, NOTCH1, PIK3CA, PDGFRB, EPHA5, KDM6A, NF1, and FLT4 genes, were also identified. NGS is useful in identifying targetable mutations in soft tissue sarcomas that can serve as a rationale for inclusion of patients with advanced disease in ongoing clinical trials and allow for better risk stratification.
24835989	Mutation	Bladder Carcinoma	Bladder cancer (or urothelial cell carcinoma [UCC]) is characterized by field disease (malignant alterations in surrounding mucosa) and frequent recurrences. Whole-genome, exome, and transcriptome sequencing of 38 tumors, including four metachronous tumor pairs and 20 superficial tumors, identified an APOBEC mutational signature in one-third. The ancestral clones contained Pik3ca/Kdm6a mutations and may reflect the field-disease mutations shared among later tumors.
24662245	Mutation	Acute Lymphoblastic Leukemia	Epigenetic regulators have been proposed as modulators of chemoresistance, here, we sequence genes encoding epigenetic regulators in matched diagnosis-remission-relapse ALL samples. We find significant enrichment of mutations in epigenetic regulators at relapse with recurrent somatic mutations in SETD2, CREBBP, MSH6, KDM6A and MLL2, mutations in signalling factors are not enriched.
24166983	Mutation	Clear cell Renal Cell Carcinoma	BAP1 (11%), PBRM1 (33%), SETD2 (16%), JARID1c (4%), and KDM6A (3%) mutations were identified.
23534949	Mutation	Plasma Cell Myeloma	The analysis of MM genomes revealed also mutations in genes for histone methyltransferases (HMTases), histone demethylase (UTX) and serine/threonine protein kinase BRAF.
23265383	Mutation	Prostate Carcinoma	Genes not previously reported to be significantly mutated in PCa, such as cell division cycle 27 homolog (Saccharomyces cerevisiae) (CDC27), myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), lysine (K)-specific demethylase 6A (KDM6A), and kinesin family member 5A (KIF5A) were identified.
23033341	Mutation; copy number change	Lung Carcinoma	Overall, our data show that cell line models exhibit similar mutation spectra to human tumor samples. Smoker and never-smoker cancer samples exhibit distinguishable patterns of mutations. A number of epigenetic regulators, including KDM6A, ASH1L, SMARCA4, and ATAD2, are frequently altered by mutations or copy number changes.
22832583	Mutation	medulloblastoma	Several recurrent mutations were identified, both in known medulloblastoma-related genes (CTNNB1, PTCH1, MLL2, SMARCA4) and in genes not previously linked to this tumour (DDX3X, CTDNEP1, KDM6A, TBR1), often in subgroup-specific patterns.
22421440	Mutation	pancreatic adenocarcinoma	Using two independent statistical methods to identify loci commonly mutated by SB in these tumors, we identified 681 loci that comprise 543 candidate cancer genes (CCGs); 75 of these CCGs, including Mll3 and Ptk2, have known mutations in human pancreatic cancer. We identified point mutations in human pancreatic patient samples for another 11 CCGs, including Acvr2a and Map2k4. Importantly, 10% of the CCGs are involved in chromatin remodeling, including Arid4b, Kdm6a, and Nsd3, and all SB tumors have at least one mutated gene involved in this process; 20 CCGs, including Ctnnd1, Fbxo11, and Vgll4, are also significantly associated with poor patient survival
22289493	Mutation	Chronic myelomonocytic Leukemia	Novel somatic mutations of genes, including those associated with proliferation signaling (CBL, RAS, RUNX1, JAK2 (V617F)) and with modification of epigenetic status (TET2, ASXL1, UTX, EZH2) have been found.
21828135	Mutation	Chronic myelomonocytic Leukemia	At least 1 mutation was found in 86% of all cases; novel UTX, DNMT3A, and EZH2 mutations were found in 8%, 10%, and 5.5% of patients, respectively.
20054297	Mutation	Clear cell Renal Cell Carcinoma	To determine further the genetics of ccRCC, we have sequenced 101 cases through 3,544 protein-coding genes. Here we report the identification of inactivating mutations in two genes encoding enzymes involved in histone modification-SETD2, a histone H3 lysine 36 methyltransferase, and JARID1C (also known as KDM5C), a histone H3 lysine 4 demethylase-as well as mutations in the histone H3 lysine 27 demethylase, UTX (KMD6A), that we recently reported.
19912222	mutation (loss of function)	Plasma Cell Myeloma	Myeloma is linked to the overexpression of a histone methylatransferase (MMSET) and inactivating mutations of a histone demethylase (UTX), suggesting that the regulation of histone methylation is a potential therapeutic target.
28249646	Mutation	Colorectal Carcinoma	Somatic mutations were also found in KDM6A, KMT2D, and other genes frequently mutated in colorectal and other cancers: FAT1, NBEA, RELN, RLP1B, and ZFHX3.
28228601	Mutation	Bladder Urothelial Carcinoma	In summary, our study demonstrates that inactivating mutations ofKDM6A, which are common in urothelial bladder carcinoma, are potentially targetable by inhibiting EZH2.
27235425	Mutation	Plasma Cell Myeloma	In diagnostic myeloma patient samples, we identify significant mutations in genes encoding the histone 1 linker protein, previously identified in other B-cell malignancies. Our data suggest an adverse prognostic impact from the presence of lesions in genes encoding DNA methylation modifiers and the histone demethylase KDM6A/UTX The frequency of mutations in epigenetic modifiers appears to increase following treatment most notably in genes encoding histone methyltransferases and DNA methylation modifiers.
27491809	Mutation	Triple-Negative Breast Carcinoma	In case 2, a clonal KMT2C mutation was present in the cribriform adenoid cystic carcinoma, solid adenoid cystic carcinoma and high-grade triple-negative breast cancer components, whereas a mutation affecting MYB was present only in the solid and high-grade triple-negative breast cancer areas and additional three mutations targeting STAG2, KDM6A and CDK12 were restricted to the high-grade triple-negative breast cancer.
27270441	Mutation	Bladder Carcinoma	Non-silent sequence alterations were confirmed in 76 cancer-associated genes, including mutations that likely activate oncogenes TERT and PIK3CA, and alter chromatin-associated proteins (MLL3, ARID1A, CHD6 and KDM6A) and established BCa genes (TP53, RB1, CDKN2A and TSC1).

Summary
Symbol	KDM6A
Name	lysine demethylase 6A
Aliases	UTX; ubiquitously transcribed tetratricopeptide repeat, X chromosome; KABUK2; bA386N14.2; bA386N14.2 (ubiqui ......
Location	Xp11.3
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)

[ TOP ]

Filter By:

Uniprot ID	Position	Amino Acid	Description	Upstream Enzyme	Affected By Mutation	Amino Acid Sequence Variant
O15550	549	R	Omega-N-methylarginine	-	Yes	p.R549T (cancer: STAD)
O15550	769	S	Phosphoserine	-	No	None detected
O15550	827	T	Phosphothreonine	-	No	None detected
O15550	829	S	Phosphoserine	-	No	None detected

Summary
Symbol	KDM6A
Name	lysine demethylase 6A
Aliases	UTX; ubiquitously transcribed tetratricopeptide repeat, X chromosome; KABUK2; bA386N14.2; bA386N14.2 (ubiqui ......
Location	Xp11.3
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)

[ TOP ]

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	4.786	4.686	-0.241	0.368	NS
BRCA	Breast invasive carcinoma	112	1100	5.692	5.546	-0.218	0.00105	NS
CESC	Cervical and endocervical cancers	3	306	5.097	5.582	NA	NA	NA
COAD	Colon adenocarcinoma	41	459	5.152	4.755	-0.476	8.25e-07	NS
ESCA	Esophageal carcinoma	11	185	5.84	5.368	-0.461	0.107	NS
GBM	Glioblastoma multiforme	5	166	4.432	4.437	NA	NA	NA
HNSC	Head and Neck squamous cell carcinoma	44	522	4.9	4.602	-0.309	0.0154	NS
KIRC	Kidney renal clear cell carcinoma	72	534	4.855	4.754	-0.236	0.00517	NS
KIRP	Kidney renal papillary cell carcinoma	32	291	4.533	4.064	-0.669	0.000109	Under
LAML	Acute Myeloid Leukemia	0	173	NA	6.356	NA	NA	NA
LGG	Brain Lower Grade Glioma	0	530	NA	4.608	NA	NA	NA
LIHC	Liver hepatocellular carcinoma	50	373	4.066	3.782	-0.394	0.00192	NS
LUAD	Lung adenocarcinoma	59	517	5.108	4.966	-0.053	0.55	NS
LUSC	Lung squamous cell carcinoma	51	501	4.689	4.962	0.119	0.264	NS
OV	Ovarian serous cystadenocarcinoma	0	307	NA	5.096	NA	NA	NA
PAAD	Pancreatic adenocarcinoma	4	179	5.212	4.748	NA	NA	NA
PCPG	Pheochromocytoma and Paraganglioma	3	184	4.616	4.22	NA	NA	NA
PRAD	Prostate adenocarcinoma	52	498	4.958	5.031	0.08	0.503	NS
READ	Rectum adenocarcinoma	10	167	5.375	4.715	-0.572	0.00309	NS
SARC	Sarcoma	2	263	4.096	4.824	NA	NA	NA
SKCM	Skin Cutaneous Melanoma	1	472	4.198	4.435	NA	NA	NA
STAD	Stomach adenocarcinoma	35	415	5.48	5.37	0.005	0.976	NS
TGCT	Testicular Germ Cell Tumors	0	156	NA	5.506	NA	NA	NA
THCA	Thyroid carcinoma	59	509	5.681	5.081	-0.45	3.22e-07	NS
THYM	Thymoma	2	120	6.221	4.84	NA	NA	NA
UCEC	Uterine Corpus Endometrial Carcinoma	35	546	5.257	4.781	-0.546	0.000101	NS

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

> The Human Protein Atlas (HPA)

[ TOP ]

Tissue	Expression Level (TPM)
Adipose tissue	12.4
Adrenal gland	15.5
Appendix	17.2
Bone marrow	41.1
Breast	29.9
Cerebral cortex	12
Cervix, uterine	22.1
Colon	13.8
Duodenum	15.7
Endometrium	29
Epididymis	14.7
Esophagus	10.9
Fallopian tube	21.9
Gallbladder	18.9
Heart muscle	4.9
Kidney	13.7
Liver	7.7
Lung	18.5
Lymph node	22.6
Ovary	22.7
Pancreas	2.9
Parathyroid gland	36.9
Placenta	15.2
Prostate	17.4
Rectum	14
Salivary gland	8.4
Seminal vesicle	13.9
Skeletal muscle	4.5
Skin	24.9
Small intestine	14
Smooth muscle	20.6
Spleen	21.4
Stomach	15.9
Testis	23.3
Thyroid gland	27.3
Tonsil	15.5
Urinary bladder	8.7

> Text Mining based Expression

[ TOP ]

PMID	Expression	Cancer	Evidence
25512285	Overexpression	Clear cell Renal Cell Carcinoma	The mRNA level of UTX in cancer tissues(C) was 4.4 folds, higher than that of the adjacent normal tissues(N) [ 0.883 2±0.703 8 vs. 0.199 7±0.140 0, P<0.05]. The protein expression of UTX in cancer tissues was up-regulated, and the protein score of cancer tissues was 4 folds, change compared with adjacent normal tissues[12±4 vs. 3±3, P<0.05].
25225064	Mutation; Underexpression	Bladder Carcinoma	BAP1 and KDM6A mutations significantly co-occurred in tumors. Somatic variants altering the TERT promoter were found in 69% of tumors but were not correlated with alterations in other bladder cancer genes. We examined the function of KDM6A, altered in 24% of tumors, and show depletion in human bladder cancer cells, enhanced in vitro proliferation, in vivo tumor growth, and cell migration.
24491801	Overexpression	Breast Carcinoma	Clinically, high levels of UTX or MLL4 were associated with poor prognosis in patients with breast cancer.
23266085	Overexpression	Bladder Carcinoma	High expression of KDM3B and KDM5A is associated with a better prognosis (no recurrence after mastectomy p=0.005 and response to docetaxel p=0.005); conversely, KDM6A is overexpressed in BC patients with an unfavorable prognosis (mortality at 1 year, p=8.65E-7).
23057811	Overexpression	Renal Cell Carcinoma	This study demonstrated that UTX and JMJD3 were upregulated in cancer tissues, suggesting that they may be involved in the development of primary RCC.
28197626	Overexpression	Pleural Malignant Mesothelioma	Both Kdm6a and Kdm6b were found to be significantly overexpressed in MPM at the mRNA level.
27983522	Overexpression	Bladder Carcinoma	By comparing with adjacent normal tissues, the expression of JMJD3 (10/21 = 47.62%) and UTX (10/21 = 47.62%) were significantly upregulated in bladder cancer tissues and the expression of JMJD3 (15/35 = 42.86%) was significantly downregulated in RCC tissues.

Summary
Symbol	KDM6A
Name	lysine demethylase 6A
Aliases	UTX; ubiquitously transcribed tetratricopeptide repeat, X chromosome; KABUK2; bA386N14.2; bA386N14.2 (ubiqui ......
Location	Xp11.3
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	0.316	7.86e-11	22.8	61.1	16.1	Neutral
BRCA	Breast invasive carcinoma	1075	0.17	1.97e-08	18	66.2	15.7	Neutral
CESC	Cervical and endocervical cancers	292	0.339	2.72e-09	24.3	62	13.7	Neutral
COAD	Colon adenocarcinoma	449	0.264	1.29e-08	15.4	69	15.6	Neutral
ESCA	Esophageal carcinoma	183	0.446	2.54e-10	43.2	45.4	11.5	Loss
GBM	Glioblastoma multiforme	147	0.102	0.219	24.5	72.1	3.4	Neutral
HNSC	Head and Neck squamous cell carcinoma	514	0.304	1.8e-12	30.4	62.5	7.2	Neutral
KIRC	Kidney renal clear cell carcinoma	525	0.163	0.000171	9.3	85.1	5.5	Neutral
KIRP	Kidney renal papillary cell carcinoma	288	-0.188	0.00133	11.8	55.6	32.6	Neutral
LAML	Acute Myeloid Leukemia	166	0.509	2.6e-12	3.6	95.2	1.2	Neutral
LGG	Brain Lower Grade Glioma	513	0.044	0.322	19.9	75.6	4.5	Neutral
LIHC	Liver hepatocellular carcinoma	364	0.07	0.185	28.3	61.3	10.4	Neutral
LUAD	Lung adenocarcinoma	512	0.321	9.1e-14	21.7	65.8	12.5	Neutral
LUSC	Lung squamous cell carcinoma	498	0.31	1.48e-12	30.1	57	12.9	Neutral
OV	Ovarian serous cystadenocarcinoma	300	0.376	1.76e-11	53.7	28	18.3	Loss
PAAD	Pancreatic adenocarcinoma	177	0.346	2.43e-06	16.9	78.5	4.5	Neutral
PCPG	Pheochromocytoma and Paraganglioma	162	0.159	0.0436	27.2	67.9	4.9	Neutral
PRAD	Prostate adenocarcinoma	491	0.231	2.32e-07	6.5	90	3.5	Neutral
READ	Rectum adenocarcinoma	164	0.311	4.99e-05	20.7	62.2	17.1	Neutral
SARC	Sarcoma	255	0.282	4.94e-06	20	44.3	35.7	Gain
SKCM	Skin Cutaneous Melanoma	367	-0.017	0.739	23.7	61.6	14.7	Neutral
STAD	Stomach adenocarcinoma	413	0.322	1.94e-11	16.9	70	13.1	Neutral
TGCT	Testicular Germ Cell Tumors	150	0.044	0.591	19.3	63.3	17.3	Neutral
THCA	Thyroid carcinoma	497	-0.007	0.877	0.8	97.6	1.6	Neutral
THYM	Thymoma	119	0.055	0.552	6.7	91.6	1.7	Neutral
UCEC	Uterine Corpus Endometrial Carcinoma	537	0.288	9.49e-12	14	71.1	14.9	Neutral

Summary
Symbol	KDM6A
Name	lysine demethylase 6A
Aliases	UTX; ubiquitously transcribed tetratricopeptide repeat, X chromosome; KABUK2; bA386N14.2; bA386N14.2 (ubiqui ......
Location	Xp11.3
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	-0.316	3.46e-11	17	408	0	0.406	NS/NA
BRCA	Breast invasive carcinoma	-0.25	9.73e-14	83	785	0.002	7.57e-05	NS/NA
CESC	Cervical and endocervical cancers	-0.287	3.16e-07	3	306	NA	NA	NS/NA
COAD	Colon adenocarcinoma	-0.466	0	19	297	-0.001	0.873	NS/NA
ESCA	Esophageal carcinoma	-0.499	0	9	185	NA	NA	NS/NA
GBM	Glioblastoma multiforme	-0.622	7.04e-08	1	64	NA	NA	NS/NA
HNSC	Head and Neck squamous cell carcinoma	-0.426	0	20	522	0.002	2.71e-05	NS/NA
KIRC	Kidney renal clear cell carcinoma	-0.448	0	24	319	0.001	0.402	NS/NA
KIRP	Kidney renal papillary cell carcinoma	-0.458	0	23	275	0.002	0.00419	NS/NA
LAML	Acute Myeloid Leukemia	-0.549	0	0	170	NA	NA	NS/NA
LGG	Brain Lower Grade Glioma	-0.519	0	0	530	NA	NA	NS/NA
LIHC	Liver hepatocellular carcinoma	-0.476	0	41	373	0.002	0.000685	NS/NA
LUAD	Lung adenocarcinoma	-0.122	0.00789	21	456	0.002	0.669	NS/NA
LUSC	Lung squamous cell carcinoma	-0.382	1.63e-14	8	370	NA	NA	NS/NA
OV	Ovarian serous cystadenocarcinoma	-0.933	0.00075	0	9	NA	NA	NS/NA
PAAD	Pancreatic adenocarcinoma	-0.563	0	4	179	NA	NA	NS/NA
PCPG	Pheochromocytoma and Paraganglioma	-0.386	6.29e-08	3	184	NA	NA	NS/NA
PRAD	Prostate adenocarcinoma	-0.213	7.23e-07	35	498	-0.002	0.562	NS/NA
READ	Rectum adenocarcinoma	-0.518	4.55e-08	2	99	NA	NA	NS/NA
SARC	Sarcoma	-0.464	0	0	263	NA	NA	NS/NA
SKCM	Skin Cutaneous Melanoma	-0.398	0	1	471	NA	NA	NS/NA
STAD	Stomach adenocarcinoma	-0.332	6.72e-11	0	372	NA	NA	NS/NA
TGCT	Testicular Germ Cell Tumors	-0.186	0.0202	0	156	NA	NA	NS/NA
THCA	Thyroid carcinoma	-0.357	7.85e-19	50	509	0	0.932	NS/NA
THYM	Thymoma	-0.452	2.47e-07	2	120	NA	NA	NS/NA
UCEC	Uterine Corpus Endometrial Carcinoma	-0.108	0.02	34	431	-0.002	0.131	NS/NA

Summary
Symbol	KDM6A
Name	lysine demethylase 6A
Aliases	UTX; ubiquitously transcribed tetratricopeptide repeat, X chromosome; KABUK2; bA386N14.2; bA386N14.2 (ubiqui ......
Location	Xp11.3
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	0	Not detected
Appendix	3	High
Bone marrow	3	High
Breast	1	Low
Bronchus	1	Low
Caudate	1	Low
Cerebellum	2	Medium
Cerebral cortex	2	Medium
Cervix, uterine	3	High
Colon	3	High
Duodenum	3	High
Endometrium	2	Medium
Epididymis	1	Low
Esophagus	2	Medium
Fallopian tube	1	Low
Gallbladder	1	Low
Heart muscle	0	Not detected
Hippocampus	2	Medium
Kidney	1	Low
Liver	0	Not detected
Lung	2	Medium
Lymph node	3	High
Nasopharynx	2	Medium
Oral mucosa	3	High
Ovary	1	Low
Pancreas	1	Low
Parathyroid gland	1	Low
Placenta	3	High
Prostate	1	Low
Rectum	3	High
Salivary gland	0	Not detected
Seminal vesicle	0	Not detected
Skeletal muscle	0	Not detected
Skin	2	Medium
Small intestine	3	High
Smooth muscle	0	Not detected
Soft tissue	2	Medium
Spleen	2	Medium
Stomach	3	High
Testis	1	Low
Thyroid gland	0	Not detected
Tonsil	3	High
Urinary bladder	1	Low
Vagina	2	Medium

Summary
Symbol	KDM6A
Name	lysine demethylase 6A
Aliases	UTX; ubiquitously transcribed tetratricopeptide repeat, X chromosome; KABUK2; bA386N14.2; bA386N14.2 (ubiqui ......
Location	Xp11.3
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	0.773	NS	24476821
BRCA	Breast invasive carcinoma	521	3.27e-08	Significant	23000897
COAD	Colon adenocarcinoma	149	0.579	NS	22810696
GBM	Glioblastoma multiforme	157	0.276	NS	26824661
HNSC	Head and Neck squamous cell carcinoma	279	3.21e-05	Significant	25631445
KIRP	Kidney renal papillary cell carcinoma	161	0.0399	Significant	26536169
LGG	Brain Lower Grade Glioma	513	0.0346	Significant	26824661
LUAD	Lung adenocarcinoma	230	1.26e-07	Significant	25079552
LUSC	Lung squamous cell carcinoma	178	0.0709	NS	22960745
OV	Ovarian serous cystadenocarcinoma	287	0.124	NS	21720365
PRAD	Prostate adenocarcinoma	333	1.51e-05	Significant	26544944
READ	Rectum adenocarcinoma	67	0.473	NS	22810696
SKCM	Skin Cutaneous Melanoma	315	0.0187	Significant	26091043
STAD	Stomach adenocarcinoma	277	0.0872	NS	25079317
THCA	Thyroid carcinoma	391	0.438	NS	25417114
UCEC	Uterine Corpus Endometrial Carcinoma	232	0.705	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	0.842	0.411	NS
BRCA	Breast invasive carcinoma	1079	1.709	0.018	Shorter
CESC	Cervical and endocervical cancers	291	0.591	0.0863	NS
COAD	Colon adenocarcinoma	439	0.762	0.362	NS
ESCA	Esophageal carcinoma	184	1.693	0.125	NS
GBM	Glioblastoma multiforme	158	0.741	0.232	NS
HNSC	Head and Neck squamous cell carcinoma	518	0.797	0.267	NS
KIRC	Kidney renal clear cell carcinoma	531	0.58	0.00969	Longer
KIRP	Kidney renal papillary cell carcinoma	287	1.638	0.229	NS
LAML	Acute Myeloid Leukemia	149	0.683	0.199	NS
LGG	Brain Lower Grade Glioma	511	1.341	0.231	NS
LIHC	Liver hepatocellular carcinoma	365	1.184	0.468	NS
LUAD	Lung adenocarcinoma	502	0.778	0.258	NS
LUSC	Lung squamous cell carcinoma	494	0.724	0.107	NS
OV	Ovarian serous cystadenocarcinoma	303	0.966	0.864	NS
PAAD	Pancreatic adenocarcinoma	177	1.158	0.608	NS
PCPG	Pheochromocytoma and Paraganglioma	179	2684050434.377	0.0848	NS
PRAD	Prostate adenocarcinoma	497	1.414	0.806	NS
READ	Rectum adenocarcinoma	159	0.477	0.187	NS
SARC	Sarcoma	259	1.427	0.232	NS
SKCM	Skin Cutaneous Melanoma	459	0.604	0.00671	Longer
STAD	Stomach adenocarcinoma	388	0.525	0.00456	Longer
TGCT	Testicular Germ Cell Tumors	134	0	0.161	NS
THCA	Thyroid carcinoma	500	0.555	0.358	NS
THYM	Thymoma	119	1.541	0.634	NS
UCEC	Uterine Corpus Endometrial Carcinoma	543	1.199	0.581	NS

> Stage

[ TOP ]

Association between expresson and stage.

Cancer	Full Name	# Patients	R Value (Spearman)	P Value (Spearman)	Association
BLCA	Bladder urothelial carcinoma	406	-0.058	0.241	NS
BRCA	Breast invasive carcinoma	1071	0.022	0.464	NS
CESC	Cervical and endocervical cancers	167	-0.04	0.612	NS
COAD	Colon adenocarcinoma	445	-0.032	0.502	NS
ESCA	Esophageal carcinoma	162	-0.04	0.609	NS
HNSC	Head and Neck squamous cell carcinoma	448	-0.093	0.0483	Lower
KIRC	Kidney renal clear cell carcinoma	531	-0.153	0.000401	Lower
KIRP	Kidney renal papillary cell carcinoma	260	0.053	0.392	NS
LIHC	Liver hepatocellular carcinoma	347	0.086	0.108	NS
LUAD	Lung adenocarcinoma	507	-0.144	0.00117	Lower
LUSC	Lung squamous cell carcinoma	497	-0.114	0.011	Lower
OV	Ovarian serous cystadenocarcinoma	302	-0.043	0.458	NS
PAAD	Pancreatic adenocarcinoma	176	0.018	0.813	NS
READ	Rectum adenocarcinoma	156	-0.059	0.463	NS
SKCM	Skin Cutaneous Melanoma	410	-0.055	0.265	NS
STAD	Stomach adenocarcinoma	392	0.076	0.134	NS
TGCT	Testicular Germ Cell Tumors	81	0.035	0.756	NS
THCA	Thyroid carcinoma	499	-0.115	0.0101	Lower
UCEC	Uterine Corpus Endometrial Carcinoma	501	-0.007	0.872	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	-0.069	0.258	NS
HNSC	Head and Neck squamous cell carcinoma	498	0.004	0.933	NS
KIRC	Kidney renal clear cell carcinoma	525	-0.226	1.76e-07	Lower
LGG	Brain Lower Grade Glioma	514	-0.008	0.86	NS
LIHC	Liver hepatocellular carcinoma	366	0.023	0.657	NS
OV	Ovarian serous cystadenocarcinoma	296	0.027	0.645	NS
PAAD	Pancreatic adenocarcinoma	176	-0.075	0.322	NS
STAD	Stomach adenocarcinoma	406	-0.076	0.127	NS
UCEC	Uterine Corpus Endometrial Carcinoma	534	0.129	0.00288	Higher

Summary
Symbol	KDM6A
Name	lysine demethylase 6A
Aliases	UTX; ubiquitously transcribed tetratricopeptide repeat, X chromosome; KABUK2; bA386N14.2; bA386N14.2 (ubiqui ......
Location	Xp11.3
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	KDM6A
Name	lysine demethylase 6A
Aliases	UTX; ubiquitously transcribed tetratricopeptide repeat, X chromosome; KABUK2; bA386N14.2; bA386N14.2 (ubiqui ......
Location	Xp11.3
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 KDM6A.

Summary
Symbol	KDM6A
Name	lysine demethylase 6A
Aliases	UTX; ubiquitously transcribed tetratricopeptide repeat, X chromosome; KABUK2; bA386N14.2; bA386N14.2 (ubiqui ......
Location	Xp11.3
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 ]

> Interactions from Text Mining

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PMID	Cancer	Hierarchy	Gene	Relation to CR	Evidence
24491801	Breast Carcinoma	partner	MLL4	Co-regulation	The majority of UTX-controlled genes, including a cohort of oncogenes and prometastatic genes, are coregulated by the H3K4 methyltransferase mixed lineage leukemia 4 (MLL4, also called ALR, KMT2D, and MLL2).
23534949	Plasma Cell Myeloma	downstream	HOXA9	Positive regulation	Aberrant histone 3 lysine 27 trimethylation (H3K27me3) by mutant HMTases or UTX induces overexpression of the homeobox A9 (HOXA9) gene