Browse SETBP1 in pancancer

Summary
Symbol	SETBP1
Name	SET binding protein 1
Aliases	SEB; KIAA0437; MRD29; SET-binding protein
Location	18q12.3
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

Domain

-

Function

-

Classification

Class	Modification	Substrate	Product	PubMed
#	#	#	#	#

> Gene Ontology [ TOP ]
Biological Process	-
Molecular Function	-
Cellular Component	-

> KEGG and Reactome Pathway [ TOP ]
KEGG	-
Reactome	-

Summary
Symbol	SETBP1
Name	SET binding protein 1
Aliases	SEB; KIAA0437; MRD29; SET-binding protein
Location	18q12.3
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 ]
There is no record.

> Catalogue of Somatic Mutations in Cancer (COSMIC)

COSMIC ID	CDS change	AA change	Mutation Type	Anatomical Site
COSM1685359	c.?	p.G870D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1666673	c.?	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3525860	c.1945C>T	p.H649Y	Substitution - Missense	Skin
COSM1225335	c.4153G>A	p.A1385T	Substitution - Missense	Large_intestine
COSM1666676	c.?	p.I871T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1225339	c.2146A>G	p.S716G	Substitution - Missense	Large_intestine
COSM3525865	c.2541C>T	p.S847S	Substitution - coding silent	Skin
COSM1666675	c.?	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1666672	c.?	p.E858K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685364	c.2612T>C	p.I871T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM473839	c.3540C>A	p.G1180G	Substitution - coding silent	Kidney
COSM5470818	c.547G>A	p.E183K	Substitution - Missense	Large_intestine
COSM5019942	c.4000+10T>A	p.?	Unknown	Soft_tissue
COSM5686551	c.887A>G	p.H296R	Substitution - Missense	Soft_tissue
COSM1716869	c.2638G>A	p.D880N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4072246	c.2986G>A	p.V996M	Substitution - Missense	Stomach
COSM4623771	c.584C>T	p.T195M	Substitution - Missense	Large_intestine
COSM1666675	c.?	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM988406	c.4212C>T	p.I1404I	Substitution - coding silent	Large_intestine
COSM3821465	c.3280C>G	p.Q1094E	Substitution - Missense	Breast
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM3525850	c.1254G>A	p.R418R	Substitution - coding silent	Skin
COSM1666676	c.?	p.I871T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM277231	c.354G>T	p.K118N	Substitution - Missense	Endometrium
COSM1234973	c.2608G>A	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1318400	c.2602G>A	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5364596	c.3938A>G	p.D1313G	Substitution - Missense	Large_intestine
COSM4968537	c.4053C>A	p.N1351K	Substitution - Missense	Adrenal_gland
COSM988394	c.3860C>T	p.S1287L	Substitution - Missense	Skin
COSM5443222	c.2004G>C	p.K668N	Substitution - Missense	Oesophagus
COSM1666675	c.?	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1234973	c.2608G>A	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1666673	c.?	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM270128	c.2736G>T	p.K912N	Substitution - Missense	Large_intestine
COSM4072230	c.768C>A	p.P256P	Substitution - coding silent	Stomach
COSM1318400	c.2602G>A	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM988394	c.3860C>T	p.S1287L	Substitution - Missense	Endometrium
COSM216431	c.147G>A	p.P49P	Substitution - coding silent	Pancreas
COSM5019889	c.3388C>A	p.P1130T	Substitution - Missense	Soft_tissue
COSM1717368	c.2601C>A	p.S867R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1318400	c.2602G>A	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4130984	c.4398G>T	p.E1466D	Substitution - Missense	Soft_tissue
COSM3525856	c.1877G>A	p.R626Q	Substitution - Missense	Skin
COSM473831	c.1602C>A	p.C534*	Substitution - Nonsense	Kidney
COSM3525841	c.145C>T	p.P49S	Substitution - Missense	Skin
COSM1666676	c.?	p.I871T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM988402	c.4188G>A	p.K1396K	Substitution - coding silent	Endometrium
COSM1265321	c.2095A>G	p.S699G	Substitution - Missense	Oesophagus
COSM988408	c.4776C>T	p.S1592S	Substitution - coding silent	Endometrium
COSM1666673	c.?	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1318400	c.2602G>A	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1666673	c.?	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4610250	c.4220T>G	p.I1407S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5593050	c.1817C>T	p.S606F	Substitution - Missense	Skin
COSM4072255	c.4227C>T	p.C1409C	Substitution - coding silent	Stomach
COSM3388443	c.4367G>A	p.R1456H	Substitution - Missense	Pancreas
COSM1666673	c.?	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM241569	c.1589G>A	p.R530Q	Substitution - Missense	Urinary_tract
COSM401775	c.1927A>G	p.M643V	Substitution - Missense	Lung
COSM1234973	c.2608G>A	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM391033	c.3296delC	p.H1100fs*2	Deletion - Frameshift	Lung
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM277235	c.3439C>T	p.L1147F	Substitution - Missense	Large_intestine
COSM1666673	c.?	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1234973	c.2608G>A	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3718537	c.3856C>T	p.P1286S	Substitution - Missense	Upper_aerodigestive_tract
COSM5470819	c.1759C>T	p.R587W	Substitution - Missense	Large_intestine
COSM1684830	c.?	p.D868Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685359	c.?	p.G870D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM137141	c.2935G>A	p.E979K	Substitution - Missense	Skin
COSM1680347	c.3586G>T	p.E1196*	Substitution - Nonsense	Large_intestine
COSM3891038	c.2187G>A	p.R729R	Substitution - coding silent	Skin
COSM5929834	c.4001G>A	p.G1334E	Substitution - Missense	Skin
COSM4590343	c.3806A>G	p.D1269G	Substitution - Missense	Upper_aerodigestive_tract
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM709531	c.1112G>A	p.G371D	Substitution - Missense	Lung
COSM4548304	c.4438G>A	p.D1480N	Substitution - Missense	Skin
COSM1666676	c.?	p.I871T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1388722	c.2959C>T	p.R987W	Substitution - Missense	Skin
COSM1666675	c.?	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1318400	c.2602G>A	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM988367	c.496G>A	p.A166T	Substitution - Missense	Endometrium
COSM1234973	c.2608G>A	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM473837	c.2557C>A	p.L853M	Substitution - Missense	Kidney
COSM4590343	c.3806A>G	p.D1269G	Substitution - Missense	Upper_aerodigestive_tract
COSM1265325	c.1108G>A	p.E370K	Substitution - Missense	Stomach
COSM226363	c.3313G>A	p.G1105S	Substitution - Missense	Skin
COSM988406	c.4212C>T	p.I1404I	Substitution - coding silent	Large_intestine
COSM1234973	c.2608G>A	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2150785	c.1630C>T	p.R544*	Substitution - Nonsense	Central_nervous_system
COSM3525858	c.1912G>A	p.G638R	Substitution - Missense	Skin
COSM1388722	c.2959C>T	p.R987W	Substitution - Missense	Skin
COSM3525877	c.4260C>T	p.I1420I	Substitution - coding silent	Skin
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5722747	c.2717C>T	p.P906L	Substitution - Missense	Skin
COSM1666675	c.?	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3422186	c.4392C>T	p.F1464F	Substitution - coding silent	Breast
COSM3730217	c.2722G>A	p.D908N	Substitution - Missense	Central_nervous_system
COSM1640982	c.1890G>A	p.A630A	Substitution - coding silent	Stomach
COSM1666675	c.?	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1234973	c.2608G>A	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM473839	c.3540C>A	p.G1180G	Substitution - coding silent	Prostate
COSM4072237	c.2180G>A	p.R727Q	Substitution - Missense	Stomach
COSM1234973	c.2608G>A	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4725131	c.2594T>A	p.I865N	Substitution - Missense	Large_intestine
COSM5556264	c.3634C>T	p.H1212Y	Substitution - Missense	Prostate
COSM126102	c.3880G>C	p.D1294H	Substitution - Missense	Upper_aerodigestive_tract
COSM1318400	c.2602G>A	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4725130	c.1990delA	p.T665fs*5	Deletion - Frameshift	Large_intestine
COSM4438726	c.1157A>G	p.N386S	Substitution - Missense	Oesophagus
COSM1666673	c.?	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5019889	c.3388C>A	p.P1130T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM473826	c.69C>G	p.S23S	Substitution - coding silent	Kidney
COSM1666675	c.?	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1179868	c.1875A>G	p.R625R	Substitution - coding silent	Prostate
COSM1666672	c.?	p.E858K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1666675	c.?	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM473843	c.4144G>A	p.A1382T	Substitution - Missense	Kidney
COSM3525853	c.1687C>T	p.P563S	Substitution - Missense	Skin
COSM4900609	c.2831G>A	p.S944N	Substitution - Missense	Skin
COSM1750520	c.194C>T	p.S65L	Substitution - Missense	Urinary_tract
COSM1666673	c.?	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1666673	c.?	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3525870	c.3114C>T	p.F1038F	Substitution - coding silent	Skin
COSM5126940	c.1677G>A	p.P559P	Substitution - coding silent	Oesophagus
COSM3525871	c.3134G>A	p.G1045E	Substitution - Missense	Skin
COSM4627593	c.4703C>A	p.P1568H	Substitution - Missense	Large_intestine
COSM4072234	c.1880G>A	p.R627H	Substitution - Missense	Stomach
COSM473824	c.68C>G	p.S23C	Substitution - Missense	Kidney
COSM5953959	c.4406G>C	p.R1469T	Substitution - Missense	Upper_aerodigestive_tract
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM2812068	c.1876C>T	p.R626*	Substitution - Nonsense	Breast
COSM1666673	c.?	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1234973	c.2608G>A	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1666673	c.?	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1711239	c.2942C>T	p.P981L	Substitution - Missense	Skin
COSM1611234	c.486+6A>G	p.?	Unknown	Liver
COSM3525841	c.145C>T	p.P49S	Substitution - Missense	Skin
COSM1666676	c.?	p.I871T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM241569	c.1589G>A	p.R530Q	Substitution - Missense	Urinary_tract
COSM1666675	c.?	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM284916	c.4393G>A	p.D1465N	Substitution - Missense	Large_intestine
COSM1666676	c.?	p.I871T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3525874	c.3691C>T	p.L1231L	Substitution - coding silent	Skin
COSM4169637	c.?	p.S214V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4072245	c.2830A>C	p.S944R	Substitution - Missense	Stomach
COSM1666675	c.?	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3989561	c.3939C>T	p.D1313D	Substitution - coding silent	Kidney
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1666673	c.?	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4072235	c.2080G>T	p.A694S	Substitution - Missense	Stomach
COSM1666673	c.?	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1234973	c.2608G>A	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685360	c.?	p.G872R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1684723	c.?	p.I871S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4478764	c.2263C>T	p.Q755*	Substitution - Nonsense	Skin
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4172021	c.?	p.G872S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1318400	c.2602G>A	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM97940	c.2843G>A	p.R948H	Substitution - Missense	Upper_aerodigestive_tract
COSM1636964	c.744C>G	p.T248T	Substitution - coding silent	Bone
COSM709529	c.1234G>T	p.D412Y	Substitution - Missense	Lung
COSM5056037	c.2864C>T	p.A955V	Substitution - Missense	Large_intestine
COSM5902036	c.3298C>T	p.H1100Y	Substitution - Missense	Skin
COSM2812145	c.4347C>T	p.F1449F	Substitution - coding silent	Skin
COSM5019889	c.3388C>A	p.P1130T	Substitution - Missense	Soft_tissue
COSM1225331	c.2824C>T	p.R942W	Substitution - Missense	Large_intestine
COSM148423	c.3301G>A	p.V1101I	Substitution - Missense	Soft_tissue
COSM1666673	c.?	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1318400	c.2602G>A	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM148423	c.3301G>A	p.V1101I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2812066	c.1799C>T	p.T600M	Substitution - Missense	Stomach
COSM1666674	c.?	p.S869G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4072240	c.2382C>T	p.S794S	Substitution - coding silent	Stomach
COSM3525854	c.1697C>T	p.P566L	Substitution - Missense	Skin
COSM5388127	c.2368C>T	p.L790L	Substitution - coding silent	Skin
COSM5430557	c.3591C>T	p.L1197L	Substitution - coding silent	Oesophagus
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM2812130	c.3801C>T	p.G1267G	Substitution - coding silent	Biliary_tract
COSM988376	c.1558G>T	p.E520*	Substitution - Nonsense	Endometrium
COSM1666675	c.?	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1666675	c.?	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5702301	c.4731_4732GG>TT	p.E1577_E1578>D*	Complex - compound substitution	Soft_tissue
COSM709523	c.2327T>A	p.M776K	Substitution - Missense	Lung
COSM1640982	c.1890G>A	p.A630A	Substitution - coding silent	Skin
COSM1666673	c.?	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5924712	c.4403C>T	p.S1468F	Substitution - Missense	Skin
COSM1666675	c.?	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1388728	c.3518delT	p.F1174fs*13	Deletion - Frameshift	Large_intestine
COSM1666674	c.?	p.S869G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1318400	c.2602G>A	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1318400	c.2602G>A	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM353981	c.1430C>G	p.S477*	Substitution - Nonsense	Lung
COSM988365	c.428G>A	p.R143H	Substitution - Missense	Large_intestine
COSM4072229	c.740G>C	p.S247T	Substitution - Missense	Stomach
COSM4495945	c.4642C>T	p.P1548S	Substitution - Missense	Skin
COSM3525866	c.2592G>A	p.T864T	Substitution - coding silent	Skin
COSM1666675	c.?	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1234973	c.2608G>A	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5597568	c.427C>T	p.R143C	Substitution - Missense	Skin
COSM1318400	c.2602G>A	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685359	c.?	p.G870D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4072239	c.2244C>T	p.H748H	Substitution - coding silent	Stomach
COSM1388722	c.2959C>T	p.R987W	Substitution - Missense	Skin
COSM2812035	c.927C>T	p.N309N	Substitution - coding silent	Bone
COSM438122	c.3982G>A	p.D1328N	Substitution - Missense	Breast
COSM1172549	c.4360C>T	p.R1454C	Substitution - Missense	Oesophagus
COSM4725133	c.3193T>C	p.Y1065H	Substitution - Missense	Large_intestine
COSM5950420	c.3294C>G	p.N1098K	Substitution - Missense	Prostate
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM212646	c.2591C>T	p.T864M	Substitution - Missense	Breast
COSM1666673	c.?	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM148423	c.3301G>A	p.V1101I	Substitution - Missense	Stomach
COSM3937747	c.3311C>A	p.S1104Y	Substitution - Missense	Oesophagus
COSM3821463	c.1648A>C	p.T550P	Substitution - Missense	Breast
COSM5040463	c.3112T>A	p.F1038I	Substitution - Missense	Liver
COSM4590343	c.3806A>G	p.D1269G	Substitution - Missense	Upper_aerodigestive_tract
COSM1265331	c.487C>A	p.L163I	Substitution - Missense	Oesophagus
COSM1480330	c.3689C>T	p.T1230I	Substitution - Missense	Breast
COSM3742623	c.3004G>T	p.D1002Y	Substitution - Missense	Liver
COSM5762937	c.1196A>G	p.H399R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3525875	c.3764C>T	p.P1255L	Substitution - Missense	Skin
COSM5646309	c.2424C>G	p.L808L	Substitution - coding silent	Oesophagus
COSM401771	c.172G>T	p.E58*	Substitution - Nonsense	Lung
COSM5751660	c.4073T>CT	p.M1358fs*11	Complex - frameshift	Haematopoietic_and_lymphoid_tissue
COSM2812152	c.4444C>T	p.P1482S	Substitution - Missense	Large_intestine
COSM1388714	c.1626G>A	p.M542I	Substitution - Missense	Large_intestine
COSM3378501	c.147G>C	p.P49P	Substitution - coding silent	Pancreas
COSM4878563	c.153C>T	p.G51G	Substitution - coding silent	Prostate
COSM3403537	c.2853C>T	p.L951L	Substitution - coding silent	Central_nervous_system
COSM1318400	c.2602G>A	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1666675	c.?	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4725129	c.1923A>C	p.K641N	Substitution - Missense	Large_intestine
COSM1318400	c.2602G>A	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM364440	c.1911G>A	p.P637P	Substitution - coding silent	Lung
COSM1685364	c.2612T>C	p.I871T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1666675	c.?	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1729986	c.779T>C	p.F260S	Substitution - Missense	Liver
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5614567	c.1180G>C	p.E394Q	Substitution - Missense	Lung
COSM1234973	c.2608G>A	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM438124	c.4356G>C	p.K1452N	Substitution - Missense	Breast
COSM1318400	c.2602G>A	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4623771	c.584C>T	p.T195M	Substitution - Missense	Large_intestine
COSM1611237	c.3702G>T	p.L1234L	Substitution - coding silent	Liver
COSM1685371	c.?	p.D874N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4169638	c.?	p.?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1666675	c.?	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM709527	c.1405A>G	p.K469E	Substitution - Missense	Lung
COSM1234973	c.2608G>A	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685361	c.2612T>G	p.I871S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1666675	c.?	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4072241	c.2492C>A	p.P831Q	Substitution - Missense	Stomach
COSM3525866	c.2592G>A	p.T864T	Substitution - coding silent	Skin
COSM4388741	c.3561C>T	p.S1187S	Substitution - coding silent	Pancreas
COSM1318400	c.2602G>A	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1666673	c.?	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4405403	c.3780G>A	p.T1260T	Substitution - coding silent	Skin
COSM148423	c.3301G>A	p.V1101I	Substitution - Missense	Soft_tissue
COSM375016	c.2111C>A	p.A704D	Substitution - Missense	Lung
COSM235338	c.3348C>T	p.H1116H	Substitution - coding silent	Skin
COSM1318400	c.2602G>A	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM988362	c.160C>T	p.R54C	Substitution - Missense	Endometrium
COSM1666675	c.?	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4604688	c.2059A>C	p.S687R	Substitution - Missense	Upper_aerodigestive_tract
COSM1666671	c.?	p.T232I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1666673	c.?	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2812131	c.3923C>T	p.T1308M	Substitution - Missense	Stomach
COSM1318400	c.2602G>A	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716867	c.2605A>C	p.S869R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685365	c.2587G>A	p.E863K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4878563	c.153C>T	p.G51G	Substitution - coding silent	Biliary_tract
COSM2155236	c.4362C>T	p.R1454R	Substitution - coding silent	Central_nervous_system
COSM1684835	c.?	p.S869R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1666673	c.?	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM438126	c.4704C>G	p.P1568P	Substitution - coding silent	Breast
COSM4072244	c.2752C>T	p.R918W	Substitution - Missense	Stomach
COSM4753718	c.520C>T	p.L174F	Substitution - Missense	Stomach
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5032223	c.?	p.N280S	Substitution - Missense	Lung
COSM4140082	c.367T>C	p.Y123H	Substitution - Missense	Ovary
COSM1666673	c.?	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685364	c.2612T>C	p.I871T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685370	c.?	p.G870V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4500696	c.571C>G	p.L191V	Substitution - Missense	Skin
COSM5056037	c.2864C>T	p.A955V	Substitution - Missense	Stomach
COSM5981363	c.1254_1255insA	p.R421fs*5	Insertion - Frameshift	Upper_aerodigestive_tract
COSM3726922	c.2342C>T	p.T781I	Substitution - Missense	Skin
COSM5019942	c.4000+10T>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5388126	c.1700C>T	p.S567F	Substitution - Missense	Skin
COSM1666673	c.?	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685369	c.?	p.D868G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4409800	c.4043A>G	p.H1348R	Substitution - Missense	Oesophagus
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM3821464	c.3215C>A	p.P1072H	Substitution - Missense	Breast
COSM3891037	c.776C>T	p.S259F	Substitution - Missense	Skin
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1685359	c.?	p.G870D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1159121	c.3973_3981delAGTTCTTAT	p.S1325_YdelSSY	Deletion - In frame	Pancreas
COSM1666677	c.?	p.E645K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5905081	c.1028T>G	p.I343R	Substitution - Missense	Skin
COSM5981363	c.1254_1255insA	p.R421fs*5	Insertion - Frameshift	Upper_aerodigestive_tract
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM2812054	c.1492C>T	p.R498W	Substitution - Missense	Stomach
COSM3422185	c.2281G>A	p.V761M	Substitution - Missense	Large_intestine
COSM3371063	c.182A>T	p.D61V	Substitution - Missense	Thyroid
COSM4072249	c.3355G>T	p.G1119*	Substitution - Nonsense	Stomach
COSM4771544	c.2607C>T	p.S869S	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM3525849	c.799A>G	p.K267E	Substitution - Missense	Skin
COSM1666673	c.?	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1265323	c.4023A>C	p.K1341N	Substitution - Missense	Oesophagus
COSM4140084	c.3514G>C	p.G1172R	Substitution - Missense	Ovary
COSM473835	c.2100T>G	p.P700P	Substitution - coding silent	Kidney
COSM1666673	c.?	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5690371	c.928G>C	p.G310R	Substitution - Missense	Soft_tissue
COSM3525853	c.1687C>T	p.P563S	Substitution - Missense	Skin
COSM5056036	c.1255delA	p.R421fs*23	Deletion - Frameshift	Large_intestine
COSM4847540	c.2799C>G	p.L933L	Substitution - coding silent	Cervix
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4072248	c.3296C>A	p.S1099Y	Substitution - Missense	Stomach
COSM1685364	c.2612T>C	p.I871T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM473839	c.3540C>A	p.G1180G	Substitution - coding silent	Prostate
COSM1666673	c.?	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1234973	c.2608G>A	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM988386	c.3081C>T	p.D1027D	Substitution - coding silent	Endometrium
COSM1388730	c.3740delA	p.G1249fs*3	Deletion - Frameshift	Large_intestine
COSM4072251	c.3594G>A	p.P1198P	Substitution - coding silent	Stomach
COSM1711237	c.1384C>T	p.P462S	Substitution - Missense	Skin
COSM1666675	c.?	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM344646	c.1652C>A	p.S551Y	Substitution - Missense	Lung
COSM1666673	c.?	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1666673	c.?	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1685364	c.2612T>C	p.I871T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1666675	c.?	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4412774	c.1873C>T	p.R625*	Substitution - Nonsense	Oesophagus
COSM1318400	c.2602G>A	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2150785	c.1630C>T	p.R544*	Substitution - Nonsense	Central_nervous_system
COSM4432343	c.3711C>T	p.S1237S	Substitution - coding silent	Oesophagus
COSM1685364	c.2612T>C	p.I871T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1666673	c.?	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM339665	c.4182C>T	p.S1394S	Substitution - coding silent	Lung
COSM988363	c.199C>A	p.R67R	Substitution - coding silent	Endometrium
COSM709525	c.2180G>T	p.R727L	Substitution - Missense	Oesophagus
COSM5449124	c.2358C>A	p.S786S	Substitution - coding silent	Large_intestine
COSM473827	c.1190C>T	p.S397L	Substitution - Missense	Kidney
COSM3796413	c.893C>T	p.S298L	Substitution - Missense	Urinary_tract
COSM1666673	c.?	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2812130	c.3801C>T	p.G1267G	Substitution - coding silent	Large_intestine
COSM4922807	c.4771G>C	p.E1591Q	Substitution - Missense	Liver
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5690372	c.930G>T	p.G310G	Substitution - coding silent	Soft_tissue
COSM1318400	c.2602G>A	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5499328	c.1974G>A	p.L658L	Substitution - coding silent	Biliary_tract
COSM988392	c.3789C>A	p.Y1263*	Substitution - Nonsense	Endometrium
COSM3362524	c.337G>T	p.A113S	Substitution - Missense	Kidney
COSM3525859	c.1917G>A	p.E639E	Substitution - coding silent	Skin
COSM1318400	c.2602G>A	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM417839	c.1420G>A	p.E474K	Substitution - Missense	Urinary_tract
COSM3728488	c.2456delA	p.K820fs*15	Deletion - Frameshift	Lung
COSM1685360	c.?	p.G872R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM3422182	c.1857C>A	p.G619G	Substitution - coding silent	Large_intestine
COSM3403538	c.3785G>C	p.R1262T	Substitution - Missense	Central_nervous_system
COSM1225333	c.2489C>T	p.S830F	Substitution - Missense	Large_intestine
COSM5019942	c.4000+10T>A	p.?	Unknown	Soft_tissue
COSM5604833	c.1268C>T	p.S423F	Substitution - Missense	Skin
COSM5910975	c.1858A>C	p.T620P	Substitution - Missense	Skin
COSM3422186	c.4392C>T	p.F1464F	Substitution - coding silent	Large_intestine
COSM5730176	c.3507_3508ins12	p.L1173_F1174insLSGL	Insertion - In frame	Skin
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1666673	c.?	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1666673	c.?	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4072254	c.4062A>C	p.S1354S	Substitution - coding silent	Stomach
COSM1717368	c.2601C>A	p.S867R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3422183	c.2019G>T	p.K673N	Substitution - Missense	Large_intestine
COSM5706735	c.2132A>C	p.K711T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5452728	c.507T>C	p.L169L	Substitution - coding silent	Large_intestine
COSM3388442	c.3748G>C	p.D1250H	Substitution - Missense	Pancreas
COSM1680347	c.3586G>T	p.E1196*	Substitution - Nonsense	Large_intestine
COSM2812149	c.4427A>G	p.E1476G	Substitution - Missense	Large_intestine
COSM3525855	c.1795G>A	p.E599K	Substitution - Missense	Skin
COSM4590343	c.3806A>G	p.D1269G	Substitution - Missense	Upper_aerodigestive_tract
COSM4072243	c.2613T>C	p.I871I	Substitution - coding silent	Stomach
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1666675	c.?	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1717365	c.2620G>T	p.D874Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3989559	c.45C>T	p.G15G	Substitution - coding silent	Kidney
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1388718	c.2802G>T	p.K934N	Substitution - Missense	Large_intestine
COSM1318400	c.2602G>A	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1666675	c.?	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1234973	c.2608G>A	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1225329	c.2585A>C	p.E862A	Substitution - Missense	Large_intestine
COSM1711241	c.3227C>T	p.S1076L	Substitution - Missense	Stomach
COSM1717367	c.2572G>A	p.E858K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2812121	c.3565C>A	p.R1189R	Substitution - coding silent	Large_intestine
COSM5887014	c.3436C>T	p.R1146W	Substitution - Missense	Skin
COSM3891036	c.551G>A	p.R184K	Substitution - Missense	Skin
COSM4464283	c.1326C>T	p.T442T	Substitution - coding silent	Skin
COSM1685361	c.2612T>G	p.I871S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1318400	c.2602G>A	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM709515	c.3599T>C	p.V1200A	Substitution - Missense	Lung
COSM1234973	c.2608G>A	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3525847	c.426C>T	p.S142S	Substitution - coding silent	Skin
COSM1666673	c.?	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4487967	c.3250C>T	p.P1084S	Substitution - Missense	Skin
COSM1666672	c.?	p.E858K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1666676	c.?	p.I871T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1265334	c.4010G>C	p.S1337T	Substitution - Missense	Oesophagus
COSM5088906	c.161G>A	p.R54H	Substitution - Missense	Large_intestine
COSM216431	c.147G>A	p.P49P	Substitution - coding silent	Pancreas
COSM3959195	c.456G>A	p.K152K	Substitution - coding silent	Lung
COSM1685364	c.2612T>C	p.I871T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2150052	c.3805_3807delGAT	p.D1269delD	Deletion - In frame	Central_nervous_system
COSM1234973	c.2608G>A	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1666676	c.?	p.I871T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1234973	c.2608G>A	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1318400	c.2602G>A	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1666675	c.?	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1234973	c.2608G>A	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1666673	c.?	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5897160	c.2693C>T	p.S898F	Substitution - Missense	Skin
COSM3525875	c.3764C>T	p.P1255L	Substitution - Missense	Skin
COSM4725126	c.585G>A	p.T195T	Substitution - coding silent	Large_intestine
COSM379897	c.1781C>A	p.P594H	Substitution - Missense	Lung
COSM1234973	c.2608G>A	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3672673	c.2825G>T	p.R942L	Substitution - Missense	Prostate
COSM1685364	c.2612T>C	p.I871T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM241569	c.1589G>A	p.R530Q	Substitution - Missense	Skin
COSM1666673	c.?	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1666675	c.?	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM988374	c.684C>T	p.S228S	Substitution - coding silent	Endometrium
COSM2812089	c.2694C>T	p.S898S	Substitution - coding silent	Skin
COSM4072250	c.3541T>G	p.F1181V	Substitution - Missense	Stomach
COSM1324590	c.3988T>A	p.S1330T	Substitution - Missense	Ovary
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM241569	c.1589G>A	p.R530Q	Substitution - Missense	Large_intestine
COSM1666673	c.?	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1234973	c.2608G>A	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5019942	c.4000+10T>A	p.?	Unknown	Soft_tissue
COSM1666676	c.?	p.I871T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM473833	c.1941A>G	p.K647K	Substitution - coding silent	Kidney
COSM1716868	c.2640C>A	p.D880E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1666673	c.?	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3525868	c.2820G>A	p.R940R	Substitution - coding silent	Skin
COSM1666676	c.?	p.I871T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4590343	c.3806A>G	p.D1269G	Substitution - Missense	Upper_aerodigestive_tract
COSM4773540	c.1345_1346insA	p.N449fs*8	Insertion - Frameshift	Stomach
COSM1666675	c.?	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1666675	c.?	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1666673	c.?	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM6006446	c.?	p.G870R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1666675	c.?	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM988404	c.4202G>T	p.R1401L	Substitution - Missense	Endometrium
COSM1750520	c.194C>T	p.S65L	Substitution - Missense	Urinary_tract
COSM1666673	c.?	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685359	c.?	p.G870D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5019889	c.3388C>A	p.P1130T	Substitution - Missense	Soft_tissue
COSM709521	c.2684A>G	p.D895G	Substitution - Missense	Lung
COSM1684721	c.?	p.T873R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1318400	c.2602G>A	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1318400	c.2602G>A	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685361	c.2612T>G	p.I871S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5728506	c.2928C>T	p.F976F	Substitution - coding silent	Skin
COSM5722748	c.3739G>A	p.E1247K	Substitution - Missense	Skin
COSM1666673	c.?	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1666675	c.?	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1666675	c.?	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4072221	c.214A>C	p.N72H	Substitution - Missense	Stomach
COSM5803513	c.3489C>G	p.I1163M	Substitution - Missense	Liver
COSM1265327	c.2134C>A	p.Q712K	Substitution - Missense	Oesophagus
COSM4753728	c.3764C>A	p.P1255H	Substitution - Missense	Stomach
COSM1666675	c.?	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5611870	c.207G>A	p.V69V	Substitution - coding silent	Adrenal_gland
COSM1318400	c.2602G>A	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM988380	c.2003A>C	p.K668T	Substitution - Missense	Stomach
COSM1318400	c.2602G>A	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5019942	c.4000+10T>A	p.?	Unknown	Soft_tissue
COSM1756965	c.1795G>C	p.E599Q	Substitution - Missense	Urinary_tract
COSM988398	c.4016A>G	p.H1339R	Substitution - Missense	Endometrium
COSM3388441	c.3252A>T	p.P1084P	Substitution - coding silent	Pancreas
COSM3388441	c.3252A>T	p.P1084P	Substitution - coding silent	Pancreas
COSM3525853	c.1687C>T	p.P563S	Substitution - Missense	Skin
COSM3525863	c.2268G>A	p.P756P	Substitution - coding silent	Skin
COSM709513	c.3838G>T	p.V1280L	Substitution - Missense	Lung
COSM709533	c.384G>T	p.E128D	Substitution - Missense	Lung
COSM1225337	c.1523C>T	p.T508M	Substitution - Missense	Large_intestine
COSM241569	c.1589G>A	p.R530Q	Substitution - Missense	Prostate
COSM1666673	c.?	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1666675	c.?	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5751449	c.4204_4205insT	p.R1402fs*65	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1666675	c.?	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1666673	c.?	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1666675	c.?	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1685359	c.?	p.G870D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1684722	c.2608G>C	p.G870R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3403535	c.542C>G	p.A181G	Substitution - Missense	Central_nervous_system
COSM4072236	c.2093C>A	p.T698N	Substitution - Missense	Stomach
COSM5972599	c.3956T>C	p.M1319T	Substitution - Missense	Upper_aerodigestive_tract
COSM1234973	c.2608G>A	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1666676	c.?	p.I871T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1666673	c.?	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM263595	c.666G>A	p.W222*	Substitution - Nonsense	Large_intestine
COSM1318400	c.2602G>A	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1265329	c.4688C>T	p.P1563L	Substitution - Missense	Oesophagus
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM3937748	c.3577G>A	p.A1193T	Substitution - Missense	Oesophagus
COSM4725127	c.627G>A	p.K209K	Substitution - coding silent	Large_intestine
COSM1680347	c.3586G>T	p.E1196*	Substitution - Nonsense	Large_intestine
COSM988378	c.1898C>T	p.A633V	Substitution - Missense	Endometrium
COSM417841	c.1096G>A	p.E366K	Substitution - Missense	Urinary_tract
COSM1234973	c.2608G>A	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5981362	c.1037C>T	p.T346I	Substitution - Missense	Upper_aerodigestive_tract
COSM988384	c.3006C>T	p.D1002D	Substitution - coding silent	Endometrium
COSM4590343	c.3806A>G	p.D1269G	Substitution - Missense	Upper_aerodigestive_tract
COSM1666673	c.?	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1666673	c.?	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3525851	c.1471C>T	p.P491S	Substitution - Missense	Skin
COSM3422184	c.2140A>C	p.N714H	Substitution - Missense	Large_intestine
COSM1290830	c.1168G>A	p.A390T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5896356	c.3280C>T	p.Q1094*	Substitution - Nonsense	Skin
COSM5989938	c.3962G>A	p.R1321H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1666674	c.?	p.S869G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3742621	c.1278G>A	p.A426A	Substitution - coding silent	Liver
COSM315105	c.4244G>T	p.C1415F	Substitution - Missense	Soft_tissue
COSM148423	c.3301G>A	p.V1101I	Substitution - Missense	Soft_tissue
COSM1234973	c.2608G>A	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5126940	c.1677G>A	p.P559P	Substitution - coding silent	Pancreas
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1388708	c.995G>A	p.G332D	Substitution - Missense	Large_intestine
COSM1318400	c.2602G>A	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1318400	c.2602G>A	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1318400	c.2602G>A	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685371	c.?	p.D874N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5762935	c.268G>A	p.E90K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2812130	c.3801C>T	p.G1267G	Substitution - coding silent	Large_intestine
COSM1234973	c.2608G>A	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5794313	c.487-2A>G	p.?	Unknown	Breast
COSM4836393	c.3720G>C	p.Q1240H	Substitution - Missense	Cervix
COSM1324592	c.3182T>C	p.M1061T	Substitution - Missense	Ovary
COSM1388720	c.2947C>T	p.P983S	Substitution - Missense	Skin
COSM1318400	c.2602G>A	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM438128	c.4762C>G	p.R1588G	Substitution - Missense	Breast
COSM1666675	c.?	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1388704	c.233A>G	p.E78G	Substitution - Missense	Large_intestine
COSM1684836	c.?	p.D908N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM473825	c.68_69CC>GG	p.S23>W	Complex	Kidney
COSM5019889	c.3388C>A	p.P1130T	Substitution - Missense	Soft_tissue
COSM1234973	c.2608G>A	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM394171	c.2842C>A	p.R948S	Substitution - Missense	Lung
COSM4480702	c.2443C>T	p.P815S	Substitution - Missense	Skin
COSM1318400	c.2602G>A	p.D868N	Substitution - Missense	Central_nervous_system
COSM1318400	c.2602G>A	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3403536	c.1081G>T	p.A361S	Substitution - Missense	Central_nervous_system
COSM4494249	c.4299C>T	p.I1433I	Substitution - coding silent	Skin
COSM988365	c.428G>A	p.R143H	Substitution - Missense	Endometrium
COSM148423	c.3301G>A	p.V1101I	Substitution - Missense	Soft_tissue
COSM1234973	c.2608G>A	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM361187	c.2790C>T	p.H930H	Substitution - coding silent	Lung
COSM1388710	c.1248T>C	p.H416H	Substitution - coding silent	Large_intestine
COSM1611237	c.3702G>T	p.L1234L	Substitution - coding silent	Liver
COSM1172549	c.4360C>T	p.R1454C	Substitution - Missense	Stomach
COSM1318400	c.2602G>A	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1711245	c.4426G>A	p.E1476K	Substitution - Missense	Skin
COSM5644828	c.1768C>A	p.P590T	Substitution - Missense	Oesophagus
COSM5699599	c.4134A>G	p.L1378L	Substitution - coding silent	Soft_tissue
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1241719	c.529T>A	p.F177I	Substitution - Missense	Oesophagus
COSM1666673	c.?	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM359208	c.3274C>A	p.P1092T	Substitution - Missense	Lung
COSM4892650	c.1755G>A	p.K585K	Substitution - coding silent	Skin
COSM1666675	c.?	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1234973	c.2608G>A	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1717368	c.2601C>A	p.S867R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4072233	c.1827C>T	p.P609P	Substitution - coding silent	Large_intestine
COSM3525864	c.2481G>A	p.W827*	Substitution - Nonsense	Skin
COSM1318400	c.2602G>A	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1388732	c.4366C>T	p.R1456C	Substitution - Missense	Large_intestine
COSM3525843	c.226G>A	p.D76N	Substitution - Missense	Skin
COSM988388	c.3324G>A	p.K1108K	Substitution - coding silent	Endometrium
COSM1666675	c.?	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM563962	c.1592G>T	p.R531M	Substitution - Missense	Prostate
COSM330358	c.69C>T	p.S23S	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM3742622	c.2687T>C	p.F896S	Substitution - Missense	Liver
COSM1388720	c.2947C>T	p.P983S	Substitution - Missense	Large_intestine
COSM1729986	c.779T>C	p.F260S	Substitution - Missense	Large_intestine
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM2812145	c.4347C>T	p.F1449F	Substitution - coding silent	Skin
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5722747	c.2717C>T	p.P906L	Substitution - Missense	Skin
COSM339031	c.1063G>A	p.V355I	Substitution - Missense	Lung
COSM1666673	c.?	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1666673	c.?	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM334090	c.3066T>G	p.P1022P	Substitution - coding silent	Lung
COSM1388734	c.4399G>A	p.D1467N	Substitution - Missense	Large_intestine
COSM1666673	c.?	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1666673	c.?	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1318400	c.2602G>A	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2812088	c.2601C>T	p.S867S	Substitution - coding silent	Large_intestine
COSM263597	c.1293C>A	p.I431I	Substitution - coding silent	Large_intestine
COSM277231	c.354G>T	p.K118N	Substitution - Missense	Large_intestine
COSM1717368	c.2601C>A	p.S867R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3718537	c.3856C>T	p.P1286S	Substitution - Missense	Upper_aerodigestive_tract
COSM1318400	c.2602G>A	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1666673	c.?	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4602765	c.46G>A	p.E16K	Substitution - Missense	Upper_aerodigestive_tract
COSM4072223	c.328A>G	p.T110A	Substitution - Missense	Stomach
COSM4130984	c.4398G>T	p.E1466D	Substitution - Missense	Thyroid
COSM4454924	c.613A>G	p.T205A	Substitution - Missense	Skin
COSM3937746	c.1266G>A	p.Q422Q	Substitution - coding silent	Oesophagus
COSM1666673	c.?	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1666675	c.?	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685362	c.1910C>G	p.P637R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM126100	c.1429T>A	p.S477T	Substitution - Missense	Upper_aerodigestive_tract
COSM1716871	c.2606G>A	p.S869N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM340486	c.2271T>A	p.D757E	Substitution - Missense	Lung
COSM1159120	c.3973_3981delAGTTCTTAT	p.S1325_Y1327delSSY	Deletion - In frame	Pancreas
COSM1234973	c.2608G>A	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM709535	c.253G>T	p.G85C	Substitution - Missense	Lung
COSM352698	c.2417C>T	p.P806L	Substitution - Missense	Lung
COSM1318400	c.2602G>A	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM263599	c.1443A>C	p.E481D	Substitution - Missense	Large_intestine
COSM988382	c.2645C>T	p.A882V	Substitution - Missense	Endometrium
COSM3970559	c.2529C>T	p.C843C	Substitution - coding silent	Central_nervous_system
COSM1318400	c.2602G>A	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5722747	c.2717C>T	p.P906L	Substitution - Missense	Skin
COSM1666675	c.?	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4072242	c.2555C>T	p.T852M	Substitution - Missense	Stomach
COSM3692115	c.630C>A	p.H210Q	Substitution - Missense	Large_intestine
COSM1666673	c.?	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1666675	c.?	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1611234	c.486+6A>G	p.?	Unknown	Liver
COSM3525876	c.4171+1G>A	p.?	Unknown	Skin
COSM1684723	c.?	p.I871S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5643374	c.757G>A	p.A253T	Substitution - Missense	Oesophagus
COSM5056036	c.1255delA	p.R421fs*23	Deletion - Frameshift	Stomach
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1666673	c.?	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3422186	c.4392C>T	p.F1464F	Substitution - coding silent	Large_intestine
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5020002	c.4234C>A	p.R1412R	Substitution - coding silent	Soft_tissue
COSM1318400	c.2602G>A	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3730217	c.2722G>A	p.D908N	Substitution - Missense	Stomach
COSM1666673	c.?	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1318400	c.2602G>A	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1318400	c.2602G>A	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM988406	c.4212C>T	p.I1404I	Substitution - coding silent	Endometrium
COSM1666676	c.?	p.I871T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4072238	c.2211C>A	p.P737P	Substitution - coding silent	Stomach
COSM4072219	c.199C>T	p.R67W	Substitution - Missense	Pancreas
COSM1666675	c.?	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM284914	c.1134A>C	p.Q378H	Substitution - Missense	Large_intestine
COSM709517	c.3062G>T	p.R1021M	Substitution - Missense	Lung
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1318400	c.2602G>A	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1388716	c.2740C>T	p.R914W	Substitution - Missense	Large_intestine
COSM5722748	c.3739G>A	p.E1247K	Substitution - Missense	Skin
COSM473841	c.3577G>T	p.A1193S	Substitution - Missense	Kidney
COSM3525878	c.4373G>A	p.R1458K	Substitution - Missense	Skin
COSM5751424	c.1537T>CT	p.S513fs*28	Complex - frameshift	Haematopoietic_and_lymphoid_tissue
COSM1388722	c.2959C>T	p.R987W	Substitution - Missense	Skin
COSM5019942	c.4000+10T>A	p.?	Unknown	Soft_tissue
COSM97896	c.1658A>T	p.K553I	Substitution - Missense	Upper_aerodigestive_tract
COSM2812074	c.2083delC	p.P696fs*88	Deletion - Frameshift	Upper_aerodigestive_tract
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5923275	c.3215C>T	p.P1072L	Substitution - Missense	Skin
COSM3525861	c.2087C>T	p.P696L	Substitution - Missense	Skin
COSM4623771	c.584C>T	p.T195M	Substitution - Missense	Large_intestine
COSM4072215	c.74C>T	p.A25V	Substitution - Missense	Stomach
COSM1666676	c.?	p.I871T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1666674	c.?	p.S869G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1388712	c.1420G>T	p.E474*	Substitution - Nonsense	Large_intestine
COSM216431	c.147G>A	p.P49P	Substitution - coding silent	Pancreas
COSM1234973	c.2608G>A	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1388722	c.2959C>T	p.R987W	Substitution - Missense	Skin
COSM1666676	c.?	p.I871T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5364596	c.3938A>G	p.D1313G	Substitution - Missense	Large_intestine
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1666673	c.?	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1318400	c.2602G>A	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1680345	c.2652G>T	p.K884N	Substitution - Missense	Large_intestine
COSM988380	c.2003A>C	p.K668T	Substitution - Missense	Endometrium
COSM417841	c.1096G>A	p.E366K	Substitution - Missense	Prostate
COSM5019942	c.4000+10T>A	p.?	Unknown	Soft_tissue
COSM5602269	c.3071A>T	p.K1024I	Substitution - Missense	Skin
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1684722	c.2608G>C	p.G870R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1667025	c.2607C>A	p.S869R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1680345	c.2652G>T	p.K884N	Substitution - Missense	Large_intestine
COSM33394	c.3484C>T	p.R1162W	Substitution - Missense	Large_intestine
COSM1685359	c.?	p.G870D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1388722	c.2959C>T	p.R987W	Substitution - Missense	Large_intestine
COSM1666675	c.?	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1717367	c.2572G>A	p.E858K	Substitution - Missense	Skin
COSM5722748	c.3739G>A	p.E1247K	Substitution - Missense	Skin
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1684835	c.?	p.S869R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM988396	c.4012C>T	p.P1338S	Substitution - Missense	Skin
COSM2812122	c.3565C>T	p.R1189W	Substitution - Missense	Stomach
COSM265916	c.1966G>C	p.G656R	Substitution - Missense	Large_intestine
COSM4072225	c.375T>C	p.C125C	Substitution - coding silent	Stomach
COSM4072233	c.1827C>T	p.P609P	Substitution - coding silent	Stomach
COSM5722748	c.3739G>A	p.E1247K	Substitution - Missense	Skin
COSM1666676	c.?	p.I871T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5032203	c.?	p.R498Q	Substitution - Missense	Lung
COSM326452	c.1387C>G	p.R463G	Substitution - Missense	Lung
COSM148423	c.3301G>A	p.V1101I	Substitution - Missense	Soft_tissue
COSM1234973	c.2608G>A	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4753727	c.2842C>T	p.R948C	Substitution - Missense	Stomach
COSM1666673	c.?	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1666675	c.?	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1684721	c.?	p.T873R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM352037	c.202G>T	p.D68Y	Substitution - Missense	Lung
COSM126101	c.3056G>A	p.R1019H	Substitution - Missense	Upper_aerodigestive_tract
COSM389246	c.2338T>G	p.S780A	Substitution - Missense	Lung
COSM3525853	c.1687C>T	p.P563S	Substitution - Missense	Skin
COSM235336	c.2691C>T	p.C897C	Substitution - coding silent	Skin
COSM4807517	c.4172-8T>C	p.?	Unknown	Pancreas
COSM3371065	c.1338A>T	p.E446D	Substitution - Missense	Thyroid
COSM988396	c.4012C>T	p.P1338S	Substitution - Missense	Endometrium
COSM1666675	c.?	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1225327	c.1645G>A	p.A549T	Substitution - Missense	Large_intestine
COSM3525850	c.1254G>A	p.R418R	Substitution - coding silent	Skin
COSM1684833	c.?	p.S854A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1684835	c.?	p.S869R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1234973	c.2608G>A	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM293785	c.453G>A	p.T151T	Substitution - coding silent	Large_intestine
COSM3396295	c.3032C>A	p.S1011*	Substitution - Nonsense	Prostate
COSM373604	c.3402T>A	p.P1134P	Substitution - coding silent	Lung
COSM3891039	c.2657C>T	p.S886L	Substitution - Missense	Skin
COSM4725135	c.4419G>T	p.P1473P	Substitution - coding silent	Large_intestine
COSM4072219	c.199C>T	p.R67W	Substitution - Missense	Stomach
COSM1666675	c.?	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1234973	c.2608G>A	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1666675	c.?	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1234973	c.2608G>A	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685364	c.2612T>C	p.I871T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1666673	c.?	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1316476	c.4132T>G	p.L1378V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2812088	c.2601C>T	p.S867S	Substitution - coding silent	Stomach
COSM1711243	c.3985T>C	p.S1329P	Substitution - Missense	Skin
COSM3525867	c.2775C>A	p.D925E	Substitution - Missense	Skin
COSM1666676	c.?	p.I871T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5595296	c.3725G>A	p.W1242*	Substitution - Nonsense	Skin
COSM1685364	c.2612T>C	p.I871T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4725132	c.2969T>G	p.F990C	Substitution - Missense	Large_intestine
COSM1685371	c.?	p.D874N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4778073	c.1673C>A	p.P558H	Substitution - Missense	Prostate
COSM1716870	c.2602G>T	p.D868Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM359206	c.262G>T	p.E88*	Substitution - Nonsense	Lung
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4072231	c.987T>C	p.P329P	Substitution - coding silent	Stomach
COSM3692116	c.1491G>A	p.P497P	Substitution - coding silent	Large_intestine
COSM1666673	c.?	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1318400	c.2602G>A	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4901991	c.4141C>T	p.L1381F	Substitution - Missense	Skin
COSM3821461	c.335G>A	p.R112Q	Substitution - Missense	Pancreas
COSM5579539	c.1474G>A	p.G492R	Substitution - Missense	Skin
COSM1159120	c.3973_3981delAGTTCTTAT	p.S1325_Y1327delSSY	Deletion - In frame	Pancreas
COSM315105	c.4244G>T	p.C1415F	Substitution - Missense	Lung
COSM1666675	c.?	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4072253	c.4005G>T	p.M1335I	Substitution - Missense	Stomach
COSM4590343	c.3806A>G	p.D1269G	Substitution - Missense	Upper_aerodigestive_tract
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4725128	c.1863G>C	p.K621N	Substitution - Missense	Large_intestine
COSM1666675	c.?	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4973373	c.1889C>T	p.A630V	Substitution - Missense	Oesophagus
COSM988370	c.559A>G	p.K187E	Substitution - Missense	Endometrium
COSM5452730	c.508G>A	p.A170T	Substitution - Missense	Large_intestine
COSM988394	c.3860C>T	p.S1287L	Substitution - Missense	Skin
COSM1666675	c.?	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM277233	c.2816A>T	p.K939M	Substitution - Missense	Large_intestine
COSM709525	c.2180G>T	p.R727L	Substitution - Missense	Lung
COSM4843980	c.2875G>A	p.E959K	Substitution - Missense	Cervix
COSM1685363	c.2618C>G	p.T873R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1666675	c.?	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1666675	c.?	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2812130	c.3801C>T	p.G1267G	Substitution - coding silent	Breast
COSM139093	c.2530G>A	p.E844K	Substitution - Missense	Skin
COSM263601	c.3022C>T	p.R1008C	Substitution - Missense	Large_intestine
COSM1388726	c.3312C>T	p.S1104S	Substitution - coding silent	Large_intestine
COSM212646	c.2591C>T	p.T864M	Substitution - Missense	Large_intestine
COSM2812150	c.4434C>T	p.C1478C	Substitution - coding silent	Large_intestine
COSM4753726	c.595C>T	p.Q199*	Substitution - Nonsense	Stomach
COSM1318400	c.2602G>A	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3525845	c.360G>A	p.L120L	Substitution - coding silent	Skin
COSM4496099	c.4680C>T	p.P1560P	Substitution - coding silent	Skin
COSM473829	c.1601G>A	p.C534Y	Substitution - Missense	Kidney
COSM3959197	c.3108A>T	p.Q1036H	Substitution - Missense	Lung
COSM5699788	c.443G>T	p.S148I	Substitution - Missense	Soft_tissue
COSM148423	c.3301G>A	p.V1101I	Substitution - Missense	Large_intestine
COSM1234973	c.2608G>A	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1234973	c.2608G>A	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1666673	c.?	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM300498	c.456G>T	p.K152N	Substitution - Missense	Large_intestine
COSM1711241	c.3227C>T	p.S1076L	Substitution - Missense	Skin
COSM3525869	c.2825G>A	p.R942Q	Substitution - Missense	Skin
COSM5914020	c.146C>T	p.P49L	Substitution - Missense	Skin
COSM1666673	c.?	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1318400	c.2602G>A	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM988372	c.642C>A	p.S214R	Substitution - Missense	Endometrium
COSM5772868	c.1554G>C	p.L518L	Substitution - coding silent	Breast
COSM2811999	c.106G>T	p.E36*	Substitution - Nonsense	Large_intestine
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1666673	c.?	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5722747	c.2717C>T	p.P906L	Substitution - Missense	Skin
COSM4495381	c.4527C>T	p.I1509I	Substitution - coding silent	Skin
COSM5824840	c.2246C>A	p.P749H	Substitution - Missense	Pancreas
COSM1318400	c.2602G>A	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4072232	c.1170C>T	p.A390A	Substitution - coding silent	Stomach
COSM3525851	c.1471C>T	p.P491S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1234973	c.2608G>A	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1666673	c.?	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1684722	c.2608G>C	p.G870R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1236142	c.1879C>T	p.R627C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4753745	c.4052A>C	p.N1351T	Substitution - Missense	Stomach
COSM1666675	c.?	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM216431	c.147G>A	p.P49P	Substitution - coding silent	Pancreas
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1159121	c.3973_3981delAGTTCTTAT	p.S1325_YdelSSY	Deletion - In frame	Pancreas
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1666673	c.?	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1684722	c.2608G>C	p.G870R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM97940	c.2843G>A	p.R948H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5019889	c.3388C>A	p.P1130T	Substitution - Missense	Soft_tissue
COSM1684832	c.?	p.S869N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1318400	c.2602G>A	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1666673	c.?	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM988390	c.3367A>G	p.M1123V	Substitution - Missense	Endometrium
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4425450	c.3774A>T	p.S1258S	Substitution - coding silent	Oesophagus
COSM1666675	c.?	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3525873	c.3589C>T	p.L1197F	Substitution - Missense	Skin
COSM4072252	c.3792T>G	p.S1264S	Substitution - coding silent	Stomach
COSM257994	c.2422C>A	p.L808I	Substitution - Missense	Large_intestine
COSM1666675	c.?	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4072217	c.158A>G	p.E53G	Substitution - Missense	Stomach
COSM1666676	c.?	p.I871T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1684830	c.?	p.D868Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1666673	c.?	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1234973	c.2608G>A	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1666673	c.?	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM2812144	c.4329delA	p.T1445fs*6	Deletion - Frameshift	Large_intestine
COSM5444955	c.699G>A	p.Q233Q	Substitution - coding silent	Oesophagus
COSM3525869	c.2825G>A	p.R942Q	Substitution - Missense	Skin
COSM4590343	c.3806A>G	p.D1269G	Substitution - Missense	Upper_aerodigestive_tract
COSM1666673	c.?	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5019889	c.3388C>A	p.P1130T	Substitution - Missense	Soft_tissue
COSM3525857	c.1889C>G	p.A630G	Substitution - Missense	Skin
COSM3821461	c.335G>A	p.R112Q	Substitution - Missense	Breast
COSM3525862	c.2225C>T	p.P742L	Substitution - Missense	Skin
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5019942	c.4000+10T>A	p.?	Unknown	Soft_tissue
COSM379629	c.664T>A	p.W222R	Substitution - Missense	Lung
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM709519	c.2848G>A	p.D950N	Substitution - Missense	Lung
COSM1234973	c.2608G>A	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1666672	c.?	p.E858K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1318400	c.2602G>A	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1318400	c.2602G>A	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1666673	c.?	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM403719	c.1127G>T	p.S376I	Substitution - Missense	Lung
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1318400	c.2602G>A	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3525872	c.3534C>T	p.A1178A	Substitution - coding silent	Skin
COSM1666675	c.?	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1234973	c.2608G>A	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1324594	c.109C>A	p.P37T	Substitution - Missense	Ovary
COSM4140084	c.3514G>C	p.G1172R	Substitution - Missense	Ovary
COSM226363	c.3313G>A	p.G1105S	Substitution - Missense	Upper_aerodigestive_tract
COSM5388128	c.2712C>T	p.A904A	Substitution - coding silent	Skin
COSM378700	c.3718C>G	p.Q1240E	Substitution - Missense	Lung
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5368355	c.4483G>T	p.V1495L	Substitution - Missense	Lung
COSM1666676	c.?	p.I871T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1666673	c.?	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4072247	c.3180G>A	p.M1060I	Substitution - Missense	Stomach
COSM1666675	c.?	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5751254	c.1061_1062insT	p.W354fs*10	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1318400	c.2602G>A	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1666675	c.?	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4072256	c.4762C>T	p.R1588*	Substitution - Nonsense	Stomach
COSM1318400	c.2602G>A	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5019889	c.3388C>A	p.P1130T	Substitution - Missense	Soft_tissue
COSM126101	c.3056G>A	p.R1019H	Substitution - Missense	Stomach
COSM4605380	c.4403C>G	p.S1468C	Substitution - Missense	Upper_aerodigestive_tract
COSM1666676	c.?	p.I871T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1666673	c.?	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5479947	c.1997T>A	p.I666N	Substitution - Missense	Large_intestine
COSM1318400	c.2602G>A	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM988400	c.4065G>A	p.V1355V	Substitution - coding silent	Endometrium
COSM2155236	c.4362C>T	p.R1454R	Substitution - coding silent	Central_nervous_system
COSM3422185	c.2281G>A	p.V761M	Substitution - Missense	Large_intestine
COSM148423	c.3301G>A	p.V1101I	Substitution - Missense	Soft_tissue
COSM1234973	c.2608G>A	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1388724	c.3099delT	p.L1035fs*26	Deletion - Frameshift	Breast
COSM5095301	c.552G>A	p.R184R	Substitution - coding silent	Thymus
COSM1684836	c.?	p.D908N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1684721	c.?	p.T873R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM401773	c.1200C>A	p.V400V	Substitution - coding silent	Lung
COSM3525852	c.1647C>T	p.A549A	Substitution - coding silent	Skin
COSM4603870	c.4001-8delT	p.?	Unknown	Upper_aerodigestive_tract
COSM1666676	c.?	p.I871T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1234973	c.2608G>A	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2812043	c.1232T>G	p.L411R	Substitution - Missense	Large_intestine
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5388125	c.1438C>T	p.L480F	Substitution - Missense	Skin
COSM1666675	c.?	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM372890	c.4096G>T	p.A1366S	Substitution - Missense	Lung
COSM1318400	c.2602G>A	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1666675	c.?	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4072227	c.400A>G	p.K134E	Substitution - Missense	Stomach
COSM5480400	c.289A>C	p.N97H	Substitution - Missense	Large_intestine
COSM3525862	c.2225C>T	p.P742L	Substitution - Missense	Skin
COSM1685359	c.?	p.G870D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1666673	c.?	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4725134	c.3604G>T	p.E1202*	Substitution - Nonsense	Large_intestine
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1685359	c.?	p.G870D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1318400	c.2602G>A	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1234973	c.2608G>A	p.G870S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1756965	c.1795G>C	p.E599Q	Substitution - Missense	Urinary_tract
COSM1685361	c.2612T>G	p.I871S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685353	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1287832	c.3605A>G	p.E1202G	Substitution - Missense	Autonomic_ganglia
COSM1324588	c.4267A>T	p.T1423S	Substitution - Missense	Ovary
COSM1666673	c.?	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1318400	c.2602G>A	p.D868N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4573024	c.940T>C	p.L314L	Substitution - coding silent	Skin

> Text Mining based Variations

PMID	Variation	Cancer	Evidence
23628959	mutation	Atypical Chronic Myeloid Leukemia, BCR-ABL1 Negative; Myeloproliferative Neoplasm, Unclassifiable; Myelodysplastic Syndrome	In particular, there was a high frequency of SETBP1 mutation in aCML (19/60; 31.7%) and MDS/MPN unclassifiable (MDS/MPN, U; 20/240; 9.3%).
23958953	mutation	Systemic Mastocytosis	We identified additional molecular aberrations in 24/27 (89%) patients with advanced SM (SM-AHNMD, 5/5; aggressive SM/mast cell leukemia, 19/22) whereas only 3/12 (25%) indolent SM/smoldering SM patients carried one additional mutation each (U2AF1, SETBP1, CBL) (P < .001).
24442206	mutation	Primary Myelodysplastic Syndrome	ASXL1 mutation was closely associated with trisomy 8 and mutations of RUNX1, EZH2, IDH, NRAS, JAK2, SETBP1 and SRSF2, but was negatively associated with SF3B1 mutation.
25412851	mutation	Myeloid Neoplasm	We assessed the frequency and clinicopathologic significance of 19 genes currently identified as significantly mutated in myeloid neoplasms, RUNX1, ASXL1, TET2, CEBPA, IDH1, IDH2, DNMT3A, FLT3, NPM1, TP53, NRAS, EZH2, CBL, U2AF1, SF3B1, SRSF2, JAK2, CSF3R, and SETBP1, across 93 cases of acute myeloid leukemia (AML) using capture target enrichment and next-generation sequencing.
25575036	mutation	Chronic Neutrophilic Leukemia	Furthermore, the majority of the patients with CSF3R-mutated CNL also expressed other mutations, such as SETBP1 and ASXL1, which might be prognostically detrimental.
25850813	mutation	Chronic Neutrophilic Leukemia	Fourteen patients with CSF3R-mutated CNL (median age 67 years; 57% males) were screened for additional mutations; 8 (57%) and 5 (38%) harbored an ASXL1 and/or SETBP1 mutation (two patients expressed both), respectively.
26019984	mutation	Chronic Myelomonocytic Leukemia	Forty-seven (32%) had a mutation in TET2, 42 (29%), a mutation in SRSF2, 65 (45%), a mutation (nonsense and frame-shift) in ASXL1 and 26 (18%), a mutation in SETBP1.
27611742	mutation	Chronic Myelogenous Leukemia, BCR-ABL1 Positive	Moreover, we also detected novel genetic mutations in the known leukemic genes SETBP1, PAX5, and TP53, while their role in the leukemogenesis remains to be determined.
27174585	mutation	Chronic Eosinophilic Leukemia, Not Otherwise Specified	The more frequently mutated genes included ASXL1 (43%), TET2 (36%), EZH2 (29%), SETBP1 (22%), CBL (14%), and NOTCH1 (14%).
26637732	mutation	Atypical Chronic Myeloid Leukemia, BCR-ABL1 Negative; Chronic Neutrophilic Leukemia	These studies have revealed aCML to be a genetically more heterogeneous disease than CNL, however, several groups have reported that SETBP1 and ASXL1 mutations occur at a high frequency and carry prognostic value in both diseases.
26389776	mutation	Plasma Cell Neoplasm	We report, for the first time, the occurrence of a SETBP1 mutation in two cases, as well as changes in G-CSF and IL-6 in SETBP1 wild type vs. mutated patients that are supportive of a hypothesis that neutrophilia associated with plasma cell neoplasms may sometimes be reactive and may sometimes represent a second clonal entity.
26366092	mutation	Chronic Neutrophilic Leukemia	In addition to CSF3R mutations, other genetic alterations have been found, notably mutations in SETBP1, which may be used as prognostic markers to guide therapeutic decisions.
26202160	mutation	Lipoma; Osteochondrolipoma	In three lipomas and in the osteochondrolipoma, exons 1-3 of HMGA2 were fused to a sequence of SETBP1 on 18q12.3 or an intragenic sequence from 18q12.3 circa 10 kbp distal to SETBP1.
26648538	mutation	Chronic Myelomonocytic Leukemia	Genes mutated in 10% of patients were SRSF2, TET2, ASXL1, RUNX1, SETBP1, KRAS, EZH2, CBL and NRAS, as well as the novel CMML genes FAT4, ARIH1, DNAH2 and CSMD1.
25553291	mutation	Atypical Chronic Myeloid Leukemia, BCR-ABL1 Negative	Recurrent somatic SET-binding protein 1 (SETBP1) and splicing pathway gene mutations have recently been found in atypical chronic myeloid leukemia and other hematologic malignancies.
25395418	mutation	Juvenile Myelomonocytic Leukemia	Using droplet digital polymerase chain reaction, we identified SETBP1 mutations in 17/56 (30%) of patients who were treated in the Children's Oncology Group sponsored clinical trial, AAML0122.
25343957	mutation	Atypical Chronic Myeloid Leukemia, BCR-ABL1 Negative	Despite the recent identification of recurrent SETBP1 mutations in atypical chronic myeloid leukemia (aCML), a complete description of the somatic lesions responsible for the onset of this disorder is still lacking.
24854193	mutation	Myeloproliferative Neoplasm	The mutational status of SETBP1 and CSF3R was studied in 7 patients with aCML (n = 3), CNL (n = 1) and unclassifiable myeloproliferative neoplasms (MPN-u) (n = 3).
23889083	mutation	Myelodysplastic Syndrome	Mutations in several genes, including SETBP1, were identified following leukaemic transformation.
23832012	mutation (gain of function)	Myeloid Neoplasm	Somatic mutations of SETBP1 seem to cause gain of function, are associated with myeloid leukemic transformation and convey poor prognosis in myelodysplastic syndromes (MDS) and CMML.
26771811	mutation	Chronic Myelomonocytic Leukemia	On a 27-gene targeted capture panel performed on 175 CMML patients (66% males, median age 70 years), common mutations included: TET2 46%, ASXL1 47%, SRSF2 45% and SETBP1 19%.
23222956	mutation	Atypical Chronic Myeloid Leukemia, BCR-ABL1 Negative	We performed exome sequencing of eight aCMLs and identified somatic alterations of SETBP1 (encoding a p.Gly870Ser alteration) in two cases.
22873195	overexpression (mutation)	Acute Myeloid Leukemia	In this study, we describe a PMF case evolved to AML with a t(12;18)(p13;q12) rearrangement showing the downregulation of the intronic miR_4319 and the overexpression of its host gene, SET binding protein (SETBP1).
26883102	mutation	Myeloid Neoplasm	In addition to the common i(17q), these neoplasms had frequent mutations in SRSF2 (55%), SETBP1 (59%), ASXL1 (55%), and NRAS (31%); TET2 and TP53 mutations were rare.
27646892	mutation	Ph Negative Myeloproliferative Neoplasm	Mutations were detected in 73.5% (36/49) of genes, and the mutational rates of JAK2-V617F, CALR (exon 9) and MPL were 60.8%(31/51), 7.8%(4/51) and 7.8%(4/51) respectively, whereas the mutational rates of ASXL1, SETBP1, and SF3B1 were around 10%.
28637621	mutation	Myeloid Neoplasm	Recurrent somatic lesions comprise monosomy 7 and trisomy 8 karyotypes and mutations in SETBP1 and ASXL1 genes.
28314085	mutation	Atypical Chronic Myeloid Leukemia, BCR-ABL1 Negative	Mutational frequencies were, ASXL1 28%, TET2 16%, NRAS 16%, SETBP1 12%, RUNX1 12%, ETNK1 8%, and PTPN11 4%.
28209919	mutation	Chronic Neutrophilic Leukemia; Chronic Myelomonocytic Leukemia	Mutations in CSF3R and SETBP1 were found in 7.1% and 5.3% CMML patients respectively, while 25% of CMML patients carried SRSF2 mutations.
27863435	mutation	Myeloid Neoplasm	SETBP1 missense mutations have been frequently identified in multiple myeloid neoplasms; however, their oncogenic potential remains unclear.
28667884	mutation	Myeloid Neoplasm	In 6 patients, we detected mutations in 6 genes commonly mutated in other myeloid neoplasms: ABL1, ASXL1, DNMT3A, IDH1, SETBP1, and TP63.

Summary
Symbol	SETBP1
Name	SET binding protein 1
Aliases	SEB; KIAA0437; MRD29; SET-binding protein
Location	18q12.3
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)

Filter By:

Uniprot ID	Position	Amino Acid	Description	Upstream Enzyme	Affected By Mutation	Amino Acid Sequence Variant

Summary
Symbol	SETBP1
Name	SET binding protein 1
Aliases	SEB; KIAA0437; MRD29; SET-binding protein
Location	18q12.3
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)

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	4.436	2.797	-2.267	6.81e-08	Under
BRCA	Breast invasive carcinoma	112	1100	5.624	4.555	-1.092	4.18e-19	Under
CESC	Cervical and endocervical cancers	3	306	5.17	3.016	NA	NA	NA
COAD	Colon adenocarcinoma	41	459	4.023	1.73	-2.404	6.1e-31	Under
ESCA	Esophageal carcinoma	11	185	5.734	4.121	-1.951	0.000883	Under
GBM	Glioblastoma multiforme	5	166	5.091	4.557	NA	NA	NA
HNSC	Head and Neck squamous cell carcinoma	44	522	4.053	3.861	-0.318	0.119	NS
KIRC	Kidney renal clear cell carcinoma	72	534	6.021	5.066	-1.038	3.86e-28	Under
KIRP	Kidney renal papillary cell carcinoma	32	291	5.773	4.414	-1.432	5.05e-15	Under
LAML	Acute Myeloid Leukemia	0	173	NA	2.871	NA	NA	NA
LGG	Brain Lower Grade Glioma	0	530	NA	5.225	NA	NA	NA
LIHC	Liver hepatocellular carcinoma	50	373	3.508	2.78	-0.814	1.85e-06	Under
LUAD	Lung adenocarcinoma	59	517	4.576	3.419	-1.201	1.47e-12	Under
LUSC	Lung squamous cell carcinoma	51	501	4.683	4.047	-0.829	1.03e-06	Under
OV	Ovarian serous cystadenocarcinoma	0	307	NA	4.038	NA	NA	NA
PAAD	Pancreatic adenocarcinoma	4	179	4.385	3.851	NA	NA	NA
PCPG	Pheochromocytoma and Paraganglioma	3	184	2.669	4.019	NA	NA	NA
PRAD	Prostate adenocarcinoma	52	498	5.414	4.686	-0.766	2.49e-10	Under
READ	Rectum adenocarcinoma	10	167	4.829	1.738	-2.805	5.12e-12	Under
SARC	Sarcoma	2	263	4.663	4.76	NA	NA	NA
SKCM	Skin Cutaneous Melanoma	1	472	3.206	3.559	NA	NA	NA
STAD	Stomach adenocarcinoma	35	415	4.898	3.701	-1.607	2e-08	Under
TGCT	Testicular Germ Cell Tumors	0	156	NA	2.978	NA	NA	NA
THCA	Thyroid carcinoma	59	509	5.11	3.938	-1.114	3.11e-25	Under
THYM	Thymoma	2	120	4.626	4.196	NA	NA	NA
UCEC	Uterine Corpus Endometrial Carcinoma	35	546	5.522	3.298	-2.267	4.75e-25	Under

> Cancer Cell Line Encyclopedia (CCLE)

Tissue	Cell Line	Expression Level (Microarray)
Autonomic ganglia	CHP126	9.1
Autonomic ganglia	CHP212	6.6
Autonomic ganglia	IMR32	10.2
Autonomic ganglia	KELLY	7.3
Autonomic ganglia	KPNRTBM1	8.2
Autonomic ganglia	KPNSI9S	5.8
Autonomic ganglia	KPNYN	8.4
Autonomic ganglia	MHHNB11	5.6
Autonomic ganglia	NB1	6.9
Autonomic ganglia	NH6	7.7
Autonomic ganglia	SHSY5Y	7.1
Autonomic ganglia	SIMA	9.7
Autonomic ganglia	SKNAS	7.3
Autonomic ganglia	SKNBE2	6.2
Autonomic ganglia	SKNDZ	8.3
Autonomic ganglia	SKNFI	7.6
Autonomic ganglia	SKNSH	7.1
Biliary tract	HUCCT1	4.3
Biliary tract	HUH28	5.2
Biliary tract	SNU1079	6.5
Biliary tract	SNU1196	4.2
Biliary tract	SNU245	4.2
Biliary tract	SNU308	7.3
Biliary tract	SNU478	4.7
Bone	143B	6.7
Bone	A673	7.4
Bone	CADOES1	4.2
Bone	CAL78	7.6
Bone	G292CLONEA141B1	8.7
Bone	HOS	5.3
Bone	HS706T	5.9
Bone	HS737T	6.5
Bone	HS819T	6.4
Bone	HS821T	6.9
Bone	HS822T	6.4
Bone	HS863T	5.4
Bone	HS870T	5
Bone	HS888T	6.3
Bone	MG63	4.8
Bone	MHHES1	7.2
Bone	OUMS27	7.4
Bone	RDES	7.1
Bone	SJSA1	8.1
Bone	SKES1	7.7
Bone	SKNMC	5.3
Bone	SW1353	6.9
Bone	T173	6.1
Bone	TC71	4.3
Bone	U2OS	7.3
Breast	AU565	5.7
Breast	BT20	6.6
Breast	BT474	7
Breast	BT483	6.7
Breast	BT549	7.8
Breast	CAL120	6.4
Breast	CAL148	10.5
Breast	CAL51	6.3
Breast	CAL851	6.2
Breast	CAMA1	5.1
Breast	DU4475	8.6
Breast	EFM192A	4.6
Breast	EFM19	4.1
Breast	EVSAT	4.5
Breast	HCC1143	7.4
Breast	HCC1187	10.5
Breast	HCC1395	9.3
Breast	HCC1419	3.8
Breast	HCC1428	7.1
Breast	HCC1500	8.4
Breast	HCC1569	4.8
Breast	HCC1599	4.5
Breast	HCC1806	6.6
Breast	HCC1937	4.8
Breast	HCC1954	6.7
Breast	HCC202	5.6
Breast	HCC2157	4.3
Breast	HCC2218	4.6
Breast	HCC38	8.8
Breast	HCC70	7.7
Breast	HDQP1	4.1
Breast	HMC18	4.5
Breast	HS274T	4.7
Breast	HS281T	5.2
Breast	HS343T	5.6
Breast	HS578T	5.9
Breast	HS606T	5.2
Breast	HS739T	6.5
Breast	HS742T	5.9
Breast	JIMT1	4.4
Breast	KPL1	6.4
Breast	MCF7	5.8
Breast	MDAMB134VI	6.9
Breast	MDAMB157	4.7
Breast	MDAMB175VII	5.8
Breast	MDAMB231	4.1
Breast	MDAMB361	6.4
Breast	MDAMB415	4.4
Breast	MDAMB436	5.2
Breast	MDAMB453	8.5
Breast	MDAMB468	6.8
Breast	SKBR3	4.3
Breast	T47D	7.6
Breast	UACC812	4
Breast	UACC893	5.5
Breast	YMB1	6
Breast	ZR751	6.7
Breast	ZR7530	7
Central nervous system	1321N1	7.3
Central nervous system	42MGBA	8.2
Central nervous system	8MGBA	5
Central nervous system	A172	4.1
Central nervous system	AM38	4.4
Central nervous system	BECKER	9.5
Central nervous system	CAS1	8.2
Central nervous system	CCFSTTG1	9.1
Central nervous system	D283MED	4.7
Central nervous system	D341MED	8
Central nervous system	DAOY	6.1
Central nervous system	DBTRG05MG	6.9
Central nervous system	DKMG	8.8
Central nervous system	GAMG	6
Central nervous system	GB1	7
Central nervous system	GI1	4.7
Central nervous system	GMS10	7.4
Central nervous system	GOS3	5.9
Central nervous system	H4	6.6
Central nervous system	HS683	7.3
Central nervous system	KALS1	6.8
Central nervous system	KG1C	5.9
Central nervous system	KNS42	8.3
Central nervous system	KNS60	5.6
Central nervous system	KNS81	6.3
Central nervous system	KS1	7.1
Central nervous system	LN18	4.2
Central nervous system	LN229	8.1
Central nervous system	M059K	7.5
Central nervous system	MOGGCCM	7.1
Central nervous system	MOGGUVW	6.5
Central nervous system	NMCG1	7.6
Central nervous system	ONS76	6.5
Central nervous system	SF126	7.1
Central nervous system	SF295	5.8
Central nervous system	SNB19	5.4
Central nervous system	SNU1105	7.2
Central nervous system	SNU201	7.5
Central nervous system	SNU466	5.4
Central nervous system	SNU489	5.3
Central nervous system	SNU626	8
Central nervous system	SNU738	7.8
Central nervous system	SW1088	8.2
Central nervous system	SW1783	7.3
Central nervous system	T98G	7.6
Central nervous system	TM31	7.1
Central nervous system	U118MG	7
Central nervous system	U138MG	8.4
Central nervous system	U251MG	7
Central nervous system	U87MG	7.7
Central nervous system	YH13	8.9
Central nervous system	YKG1	7.1
Endometrium	AN3CA	4.2
Endometrium	COLO684	5.2
Endometrium	EFE184	5.4
Endometrium	EN	4.4
Endometrium	ESS1	6.1
Endometrium	HEC108	7.1
Endometrium	HEC151	3.9
Endometrium	HEC1A	4
Endometrium	HEC1B	5
Endometrium	HEC251	7.3
Endometrium	HEC265	5
Endometrium	HEC50B	5
Endometrium	HEC59	6.8
Endometrium	HEC6	3.9
Endometrium	ISHIKAWAHERAKLIO02ER	7.9
Endometrium	JHUEM1	4.1
Endometrium	JHUEM2	4
Endometrium	JHUEM3	6.2
Endometrium	KLE	7.9
Endometrium	MFE280	6
Endometrium	MFE296	4.2
Endometrium	MFE319	4.2
Endometrium	RL952	4.4
Endometrium	SNGM	5.6
Endometrium	SNU1077	5.3
Endometrium	SNU685	5.6
Endometrium	TEN	6.9
Haematopoietic and lymphoid	697	4.4
Haematopoietic and lymphoid	A3KAW	8.6
Haematopoietic and lymphoid	A4FUK	8.9
Haematopoietic and lymphoid	ALLSIL	4.4
Haematopoietic and lymphoid	AML193	4.5
Haematopoietic and lymphoid	AMO1	7.2
Haematopoietic and lymphoid	BCP1	4.1
Haematopoietic and lymphoid	BDCM	8.2
Haematopoietic and lymphoid	BL41	6.6
Haematopoietic and lymphoid	BL70	6.5
Haematopoietic and lymphoid	BV173	5.1
Haematopoietic and lymphoid	CA46	6.6
Haematopoietic and lymphoid	CI1	5.6
Haematopoietic and lymphoid	CMK115	4
Haematopoietic and lymphoid	CMK86	4
Haematopoietic and lymphoid	CMK	4.4
Haematopoietic and lymphoid	CMLT1	4.2
Haematopoietic and lymphoid	COLO775	8.4
Haematopoietic and lymphoid	DAUDI	6.3
Haematopoietic and lymphoid	DB	4.1
Haematopoietic and lymphoid	DEL	4.2
Haematopoietic and lymphoid	DND41	5.7
Haematopoietic and lymphoid	DOHH2	8.6
Haematopoietic and lymphoid	EB1	4.8
Haematopoietic and lymphoid	EB2	7.1
Haematopoietic and lymphoid	EHEB	7.4
Haematopoietic and lymphoid	EJM	8.3
Haematopoietic and lymphoid	EM2	4.2
Haematopoietic and lymphoid	EOL1	4.2
Haematopoietic and lymphoid	F36P	4.2
Haematopoietic and lymphoid	GA10	6.9
Haematopoietic and lymphoid	GDM1	7.5
Haematopoietic and lymphoid	GRANTA519	5.4
Haematopoietic and lymphoid	HDLM2	7.8
Haematopoietic and lymphoid	HDMYZ	5.9
Haematopoietic and lymphoid	HEL9217	4.4
Haematopoietic and lymphoid	HEL	4
Haematopoietic and lymphoid	HH	4.4
Haematopoietic and lymphoid	HL60	4.3
Haematopoietic and lymphoid	HPBALL	6.9
Haematopoietic and lymphoid	HS604T	5.9
Haematopoietic and lymphoid	HS611T	7.2
Haematopoietic and lymphoid	HS616T	5.3
Haematopoietic and lymphoid	HS751T	5
Haematopoietic and lymphoid	HT	4.4
Haematopoietic and lymphoid	HTK	7
Haematopoietic and lymphoid	HUNS1	8.1
Haematopoietic and lymphoid	HUT102	8.2
Haematopoietic and lymphoid	HUT78	4.3
Haematopoietic and lymphoid	JEKO1	8
Haematopoietic and lymphoid	JK1	4.1
Haematopoietic and lymphoid	JM1	6.1
Haematopoietic and lymphoid	JURKAT	4
Haematopoietic and lymphoid	JURLMK1	4.2
Haematopoietic and lymphoid	JVM2	7.1
Haematopoietic and lymphoid	JVM3	4.2
Haematopoietic and lymphoid	K562	4.3
Haematopoietic and lymphoid	KARPAS299	4.2
Haematopoietic and lymphoid	KARPAS422	5.7
Haematopoietic and lymphoid	KARPAS620	10.9
Haematopoietic and lymphoid	KASUMI1	4.4
Haematopoietic and lymphoid	KASUMI2	7.8
Haematopoietic and lymphoid	KASUMI6	4.2
Haematopoietic and lymphoid	KCL22	5.2
Haematopoietic and lymphoid	KE37	4.3
Haematopoietic and lymphoid	KE97	7.1
Haematopoietic and lymphoid	KG1	8.5
Haematopoietic and lymphoid	KHM1B	8.9
Haematopoietic and lymphoid	KIJK	4.5
Haematopoietic and lymphoid	KMH2	4.3
Haematopoietic and lymphoid	KMM1	9.3
Haematopoietic and lymphoid	KMS11	10.2
Haematopoietic and lymphoid	KMS12BM	7.5
Haematopoietic and lymphoid	KMS18	8
Haematopoietic and lymphoid	KMS20	7.8
Haematopoietic and lymphoid	KMS21BM	7.5
Haematopoietic and lymphoid	KMS26	9.6
Haematopoietic and lymphoid	KMS27	4.3
Haematopoietic and lymphoid	KMS28BM	8.5
Haematopoietic and lymphoid	KMS34	8.9
Haematopoietic and lymphoid	KO52	4.8
Haematopoietic and lymphoid	KOPN8	4.5
Haematopoietic and lymphoid	KU812	4.4
Haematopoietic and lymphoid	KYO1	4.4
Haematopoietic and lymphoid	L1236	9.8
Haematopoietic and lymphoid	L363	8.7
Haematopoietic and lymphoid	L428	7.9
Haematopoietic and lymphoid	L540	7.9
Haematopoietic and lymphoid	LAMA84	4.6
Haematopoietic and lymphoid	LOUCY	9
Haematopoietic and lymphoid	LP1	10.5
Haematopoietic and lymphoid	M07E	4.4
Haematopoietic and lymphoid	MC116	4.3
Haematopoietic and lymphoid	ME1	5
Haematopoietic and lymphoid	MEC1	9
Haematopoietic and lymphoid	MEC2	9.3
Haematopoietic and lymphoid	MEG01	4.9
Haematopoietic and lymphoid	MHHCALL2	8.3
Haematopoietic and lymphoid	MHHCALL3	7.1
Haematopoietic and lymphoid	MHHCALL4	7.1
Haematopoietic and lymphoid	MINO	7.5
Haematopoietic and lymphoid	MJ	4.2
Haematopoietic and lymphoid	MM1S	9.2
Haematopoietic and lymphoid	MOLM13	4.4
Haematopoietic and lymphoid	MOLM16	4.1
Haematopoietic and lymphoid	MOLM6	4.7
Haematopoietic and lymphoid	MOLP2	8.7
Haematopoietic and lymphoid	MOLP8	10.5
Haematopoietic and lymphoid	MOLT13	6.3
Haematopoietic and lymphoid	MOLT16	4.3
Haematopoietic and lymphoid	MOLT4	4.1
Haematopoietic and lymphoid	MONOMAC1	4.3
Haematopoietic and lymphoid	MONOMAC6	4.4
Haematopoietic and lymphoid	MOTN1	10.7
Haematopoietic and lymphoid	MUTZ5	7
Haematopoietic and lymphoid	MV411	3.8
Haematopoietic and lymphoid	NALM19	4.3
Haematopoietic and lymphoid	NALM1	4.5
Haematopoietic and lymphoid	NALM6	4.4
Haematopoietic and lymphoid	NAMALWA	5.4
Haematopoietic and lymphoid	NB4	4.3
Haematopoietic and lymphoid	NCIH929	10.5
Haematopoietic and lymphoid	NCO2	4.3
Haematopoietic and lymphoid	NOMO1	4
Haematopoietic and lymphoid	NUDHL1	8
Haematopoietic and lymphoid	NUDUL1	6
Haematopoietic and lymphoid	OCIAML2	4.6
Haematopoietic and lymphoid	OCIAML3	4.5
Haematopoietic and lymphoid	OCIAML5	5.6
Haematopoietic and lymphoid	OCILY10	4.4
Haematopoietic and lymphoid	OCILY19	4.9
Haematopoietic and lymphoid	OCILY3	8.5
Haematopoietic and lymphoid	OCIM1	4.1
Haematopoietic and lymphoid	OPM2	10
Haematopoietic and lymphoid	P12ICHIKAWA	4.2
Haematopoietic and lymphoid	P31FUJ	4.5
Haematopoietic and lymphoid	P3HR1	4.3
Haematopoietic and lymphoid	PCM6	8.7
Haematopoietic and lymphoid	PEER	4.2
Haematopoietic and lymphoid	PF382	6.3
Haematopoietic and lymphoid	PFEIFFER	6
Haematopoietic and lymphoid	PL21	4.4
Haematopoietic and lymphoid	RAJI	6.5
Haematopoietic and lymphoid	RCHACV	7.6
Haematopoietic and lymphoid	REC1	9.2
Haematopoietic and lymphoid	REH	6.6
Haematopoietic and lymphoid	RI1	9.5
Haematopoietic and lymphoid	RL	5.6
Haematopoietic and lymphoid	RPMI8226	8.3
Haematopoietic and lymphoid	RPMI8402	5
Haematopoietic and lymphoid	RS411	4.1
Haematopoietic and lymphoid	SEM	4.8
Haematopoietic and lymphoid	SET2	4.4
Haematopoietic and lymphoid	SIGM5	4.3
Haematopoietic and lymphoid	SKM1	4.6
Haematopoietic and lymphoid	SKMM2	10.5
Haematopoietic and lymphoid	SR786	6.3
Haematopoietic and lymphoid	ST486	4.4
Haematopoietic and lymphoid	SUDHL10	7.3
Haematopoietic and lymphoid	SUDHL1	4.1
Haematopoietic and lymphoid	SUDHL4	7.1
Haematopoietic and lymphoid	SUDHL5	7.6
Haematopoietic and lymphoid	SUDHL6	8.3
Haematopoietic and lymphoid	SUDHL8	4.1
Haematopoietic and lymphoid	SUPB15	6.3
Haematopoietic and lymphoid	SUPHD1	9.3
Haematopoietic and lymphoid	SUPM2	5.5
Haematopoietic and lymphoid	SUPT11	4.5
Haematopoietic and lymphoid	SUPT1	6.7
Haematopoietic and lymphoid	TALL1	6.4
Haematopoietic and lymphoid	TF1	4.5
Haematopoietic and lymphoid	THP1	5.4
Haematopoietic and lymphoid	TO175T	5.7
Haematopoietic and lymphoid	TOLEDO	4.9
Haematopoietic and lymphoid	U266B1	6.9
Haematopoietic and lymphoid	U937	4.2
Haematopoietic and lymphoid	UT7	4.2
Haematopoietic and lymphoid	WSUDLCL2	6.5
Kidney	769P	5
Kidney	786O	4.1
Kidney	A498	5.9
Kidney	A704	6.5
Kidney	ACHN	4.1
Kidney	BFTC909	4.5
Kidney	CAKI1	5.1
Kidney	CAKI2	5.8
Kidney	CAL54	6.1
Kidney	KMRC1	4.8
Kidney	KMRC20	4.8
Kidney	KMRC2	5.5
Kidney	KMRC3	5.8
Kidney	OSRC2	5.1
Kidney	RCC10RGB	5.2
Kidney	SNU1272	5.5
Kidney	SNU349	6.9
Kidney	TUHR10TKB	7
Kidney	TUHR14TKB	5.9
Kidney	TUHR4TKB	6.2
Kidney	VMRCRCW	5.8
Kidney	VMRCRCZ	4.8
Large intestine	C2BBE1	4.7
Large intestine	CCK81	3.9
Large intestine	CL11	4.1
Large intestine	CL14	4
Large intestine	CL34	4
Large intestine	CL40	4.2
Large intestine	COLO205	4.2
Large intestine	COLO320	4.4
Large intestine	COLO678	4.7
Large intestine	CW2	5.3
Large intestine	DLD1	4.2
Large intestine	GP2D	4.4
Large intestine	HCC56	4.2
Large intestine	HCT116	4.3
Large intestine	HCT15	4.2
Large intestine	HS675T	4.2
Large intestine	HS698T	6
Large intestine	HT115	4.2
Large intestine	HT29	4.2
Large intestine	HT55	4.3
Large intestine	KM12	3.9
Large intestine	LOVO	4
Large intestine	LS1034	4.4
Large intestine	LS123	4.5
Large intestine	LS180	3.9
Large intestine	LS411N	4.1
Large intestine	LS513	4.4
Large intestine	MDST8	5.2
Large intestine	NCIH508	4.2
Large intestine	NCIH716	8
Large intestine	NCIH747	4
Large intestine	OUMS23	5.9
Large intestine	RCM1	4.4
Large intestine	RKO	4.5
Large intestine	SKCO1	3.9
Large intestine	SNU1040	4.2
Large intestine	SNU1197	4.2
Large intestine	SNU175	4.9
Large intestine	SNU283	4.5
Large intestine	SNU407	4.3
Large intestine	SNU503	7
Large intestine	SNU61	4.3
Large intestine	SNU81	4.3
Large intestine	SNUC1	4.1
Large intestine	SNUC2A	3.9
Large intestine	SNUC4	4.2
Large intestine	SNUC5	4
Large intestine	SW1116	4.1
Large intestine	SW1417	4.8
Large intestine	SW1463	4.7
Large intestine	SW403	4.1
Large intestine	SW480	4.5
Large intestine	SW48	4.2
Large intestine	SW620	4.2
Large intestine	SW837	4.4
Large intestine	SW948	4
Large intestine	T84	4.3
Liver	ALEXANDERCELLS	4.5
Liver	C3A	4.3
Liver	HEP3B217	5.5
Liver	HEPG2	4.2
Liver	HLE	5
Liver	HLF	4.2
Liver	HUH1	4.7
Liver	HUH6	4.3
Liver	HUH7	7.6
Liver	JHH1	6.4
Liver	JHH2	5.7
Liver	JHH4	6.8
Liver	JHH5	6.8
Liver	JHH6	7
Liver	JHH7	6.3
Liver	LI7	7.5
Liver	PLCPRF5	4.1
Liver	SKHEP1	4.4
Liver	SNU182	6.8
Liver	SNU387	6.4
Liver	SNU398	4.2
Liver	SNU423	5.1
Liver	SNU449	5.3
Liver	SNU475	7.5
Liver	SNU761	6.9
Liver	SNU878	6.9
Liver	SNU886	6.4
Lung	A549	5.1
Lung	ABC1	5
Lung	BEN	9.5
Lung	CAL12T	5.7
Lung	CALU1	4.3
Lung	CALU3	5.2
Lung	CALU6	5
Lung	CHAGOK1	7.8
Lung	COLO668	9.7
Lung	COLO699	6.2
Lung	CORL105	6.7
Lung	CORL23	4.4
Lung	CORL24	10.6
Lung	CORL279	9.3
Lung	CORL311	10.5
Lung	CORL47	10.5
Lung	CORL51	10.6
Lung	CORL88	10.1
Lung	CORL95	10.9
Lung	CPCN	9
Lung	DMS114	4.3
Lung	DMS153	8.9
Lung	DMS273	8.3
Lung	DMS454	9.4
Lung	DMS53	6.2
Lung	DMS79	10
Lung	DV90	4.2
Lung	EBC1	4.3
Lung	EPLC272H	5.3
Lung	HARA	4.2
Lung	HCC1171	5.8
Lung	HCC1195	4.2
Lung	HCC15	4.4
Lung	HCC2279	3.9
Lung	HCC2935	6.6
Lung	HCC33	9.9
Lung	HCC366	4.2
Lung	HCC4006	6.1
Lung	HCC44	6
Lung	HCC78	3.9
Lung	HCC827	3.9
Lung	HCC95	6.6
Lung	HLC1	4.3
Lung	HLFA	4.3
Lung	HS229T	4.9
Lung	HS618T	5
Lung	IALM	4.6
Lung	KNS62	5.9
Lung	LC1F	6.2
Lung	LC1SQSF	6.7
Lung	LCLC103H	4.1
Lung	LCLC97TM1	4
Lung	LK2	4.9
Lung	LOUNH91	4
Lung	LU65	4.4
Lung	LU99	4.4
Lung	LUDLU1	8.6
Lung	LXF289	4
Lung	MORCPR	5.6
Lung	NCIH1048	8.2
Lung	NCIH1092	11.5
Lung	NCIH1105	10.5
Lung	NCIH1155	8
Lung	NCIH1184	9.7
Lung	NCIH1299	4.1
Lung	NCIH1339	4.2
Lung	NCIH1341	7.8
Lung	NCIH1355	4.3
Lung	NCIH1373	3.9
Lung	NCIH1385	10.3
Lung	NCIH1395	5.4
Lung	NCIH1435	4.1
Lung	NCIH1436	9.5
Lung	NCIH1437	7.7
Lung	NCIH146	8.4
Lung	NCIH1563	6.4
Lung	NCIH1568	4.7
Lung	NCIH1573	5.4
Lung	NCIH1581	4.6
Lung	NCIH1618	9.1
Lung	NCIH1623	8
Lung	NCIH1648	5.8
Lung	NCIH1650	7.1
Lung	NCIH1651	4.6
Lung	NCIH1666	5.1
Lung	NCIH1693	5.5
Lung	NCIH1694	8.8
Lung	NCIH1703	4
Lung	NCIH1734	7.7
Lung	NCIH1755	6.3
Lung	NCIH1781	4
Lung	NCIH1792	4.6
Lung	NCIH1793	5.9
Lung	NCIH1836	8.3
Lung	NCIH1838	4.2
Lung	NCIH1869	4
Lung	NCIH1876	10.2
Lung	NCIH1915	5.6
Lung	NCIH1930	7.4
Lung	NCIH1944	5.3
Lung	NCIH1963	10.7
Lung	NCIH196	7.5
Lung	NCIH1975	4.1
Lung	NCIH2009	4.1
Lung	NCIH2023	4.5
Lung	NCIH2029	8.8
Lung	NCIH2030	4.9
Lung	NCIH2066	7
Lung	NCIH2081	10.4
Lung	NCIH2085	5.2
Lung	NCIH2087	4.2
Lung	NCIH209	8.2
Lung	NCIH2106	9.1
Lung	NCIH2110	4.6
Lung	NCIH211	4.2
Lung	NCIH2122	5.1
Lung	NCIH2126	5.2
Lung	NCIH2141	10
Lung	NCIH2170	4.3
Lung	NCIH2171	8.4
Lung	NCIH2172	4.4
Lung	NCIH2196	8.3
Lung	NCIH2227	9.7
Lung	NCIH2228	3.9
Lung	NCIH226	5.1
Lung	NCIH2286	4.7
Lung	NCIH2291	4.4
Lung	NCIH2342	7.9
Lung	NCIH2347	4
Lung	NCIH23	4.3
Lung	NCIH2405	4.4
Lung	NCIH2444	4.2
Lung	NCIH292	5.7
Lung	NCIH322	6.4
Lung	NCIH3255	4
Lung	NCIH358	3.9
Lung	NCIH441	4.2
Lung	NCIH446	8
Lung	NCIH460	5.5
Lung	NCIH510	7.4
Lung	NCIH520	5.5
Lung	NCIH522	4.2
Lung	NCIH524	7.8
Lung	NCIH526	8.6
Lung	NCIH596	6
Lung	NCIH647	4.1
Lung	NCIH650	4.8
Lung	NCIH661	4.1
Lung	NCIH69	10.2
Lung	NCIH727	7.2
Lung	NCIH810	8.6
Lung	NCIH82	6.4
Lung	NCIH838	6.5
Lung	NCIH841	4.2
Lung	NCIH854	8.8
Lung	NCIH889	10.2
Lung	PC14	6
Lung	RERFLCAD1	4.2
Lung	RERFLCAD2	5.5
Lung	RERFLCAI	4.1
Lung	RERFLCKJ	5.3
Lung	RERFLCMS	5.2
Lung	RERFLCSQ1	5.2
Lung	SBC5	4.1
Lung	SCLC21H	8
Lung	SHP77	7.7
Lung	SKLU1	4
Lung	SKMES1	5.5
Lung	SQ1	4.3
Lung	SW1271	4.1
Lung	SW1573	4
Lung	SW900	4.3
Lung	VMRCLCD	4.8
Lung	VMRCLCP	7
Oesophagus	COLO680N	5
Oesophagus	ECGI10	5.8
Oesophagus	KYSE140	8
Oesophagus	KYSE150	5.3
Oesophagus	KYSE180	7.8
Oesophagus	KYSE270	6.6
Oesophagus	KYSE30	6.3
Oesophagus	KYSE410	6.6
Oesophagus	KYSE450	5.5
Oesophagus	KYSE510	5.8
Oesophagus	KYSE520	6.4
Oesophagus	KYSE70	6.9
Oesophagus	OE19	4
Oesophagus	OE33	4.1
Oesophagus	TE10	7.8
Oesophagus	TE11	6.2
Oesophagus	TE14	7.3
Oesophagus	TE15	7.1
Oesophagus	TE1	5.6
Oesophagus	TE4	5.4
Oesophagus	TE5	6.4
Oesophagus	TE6	7.6
Oesophagus	TE8	6
Oesophagus	TE9	7.2
Oesophagus	TT	6.6
Ovary	59M	4.5
Ovary	A2780	4.2
Ovary	CAOV3	4.7
Ovary	CAOV4	7.1
Ovary	COLO704	5.6
Ovary	COV318	8.2
Ovary	COV362	6.9
Ovary	COV434	4.5
Ovary	COV504	7.7
Ovary	COV644	4.2
Ovary	EFO21	5.3
Ovary	EFO27	4.2
Ovary	ES2	5.2
Ovary	FUOV1	6.3
Ovary	HEYA8	4.4
Ovary	HS571T	4.4
Ovary	IGROV1	6.6
Ovary	JHOC5	6.3
Ovary	JHOM1	8.5
Ovary	JHOM2B	4.2
Ovary	JHOS2	7.3
Ovary	JHOS4	8.4
Ovary	KURAMOCHI	7.3
Ovary	MCAS	4.4
Ovary	NIHOVCAR3	6.6
Ovary	OAW28	9.1
Ovary	OAW42	6.3
Ovary	OC314	4.7
Ovary	OC316	4.6
Ovary	ONCODG1	7.5
Ovary	OV56	5.1
Ovary	OV7	8.2
Ovary	OV90	7.1
Ovary	OVCAR4	5.8
Ovary	OVCAR8	6.2
Ovary	OVISE	5.1
Ovary	OVK18	4
Ovary	OVKATE	7.9
Ovary	OVMANA	5.8
Ovary	OVSAHO	5.5
Ovary	OVTOKO	6.3
Ovary	RMGI	5.9
Ovary	RMUGS	6.8
Ovary	SKOV3	4.5
Ovary	SNU119	6.5
Ovary	SNU840	6
Ovary	SNU8	5.7
Ovary	TOV112D	4.2
Ovary	TOV21G	5.5
Ovary	TYKNU	4.2
Pancreas	ASPC1	4.2
Pancreas	BXPC3	6.8
Pancreas	CAPAN1	4.3
Pancreas	CAPAN2	4.2
Pancreas	CFPAC1	5.1
Pancreas	DANG	4.5
Pancreas	HPAC	4.9
Pancreas	HPAFII	4.1
Pancreas	HS766T	7
Pancreas	HUPT3	5.9
Pancreas	HUPT4	5.1
Pancreas	KCIMOH1	5.8
Pancreas	KLM1	5.8
Pancreas	KP2	4.2
Pancreas	KP3	4.2
Pancreas	KP4	4.2
Pancreas	L33	5.2
Pancreas	MIAPACA2	4.3
Pancreas	PANC0203	4.2
Pancreas	PANC0213	6.3
Pancreas	PANC0327	4.2
Pancreas	PANC0403	4.2
Pancreas	PANC0504	4.3
Pancreas	PANC0813	4.1
Pancreas	PANC1005	3.9
Pancreas	PANC1	4.5
Pancreas	PATU8902	4
Pancreas	PATU8988S	4.1
Pancreas	PATU8988T	4.5
Pancreas	PK1	6.4
Pancreas	PK45H	6.1
Pancreas	PK59	6.7
Pancreas	PL45	4.2
Pancreas	PSN1	4.5
Pancreas	QGP1	9.1
Pancreas	SNU213	4.4
Pancreas	SNU324	4.3
Pancreas	SNU410	4.3
Pancreas	SU8686	4.8
Pancreas	SUIT2	4.4
Pancreas	SW1990	5.3
Pancreas	T3M4	4.5
Pancreas	TCCPAN2	4.4
Pancreas	YAPC	4.2
Pleura	ACCMESO1	4.8
Pleura	DM3	5.2
Pleura	ISTMES1	4.2
Pleura	ISTMES2	5.6
Pleura	JL1	5
Pleura	MPP89	5.9
Pleura	MSTO211H	4.2
Pleura	NCIH2052	6.3
Pleura	NCIH2452	4.6
Pleura	NCIH28	5.3
Prostate	22RV1	7
Prostate	DU145	4.1
Prostate	LNCAPCLONEFGC	7.9
Prostate	MDAPCA2B	5.7
Prostate	NCIH660	8.6
Prostate	PC3	5.5
Prostate	VCAP	7.2
Salivary gland	A253	6.6
Salivary gland	YD15	5.3
Skin	A101D	4.6
Skin	A2058	6.1
Skin	A375	5.3
Skin	C32	8.1
Skin	CHL1	5.4
Skin	CJM	4.2
Skin	COLO679	4.9
Skin	COLO741	5.7
Skin	COLO783	6.7
Skin	COLO792	6.2
Skin	COLO800	5.7
Skin	COLO818	5.1
Skin	COLO829	4.5
Skin	COLO849	4.2
Skin	G361	7.6
Skin	GRM	5.9
Skin	HMCB	6.2
Skin	HS294T	4.1
Skin	HS600T	5
Skin	HS688AT	7.2
Skin	HS695T	8.2
Skin	HS839T	6.5
Skin	HS852T	8.6
Skin	HS895T	4.6
Skin	HS934T	6.9
Skin	HS936T	6
Skin	HS939T	6.8
Skin	HS940T	5.6
Skin	HS944T	4.9
Skin	HT144	6.1
Skin	IGR1	4.9
Skin	IGR37	7.7
Skin	IGR39	6.6
Skin	IPC298	4.3
Skin	K029AX	6.9
Skin	LOXIMVI	4.8
Skin	MALME3M	4.7
Skin	MDAMB435S	5.1
Skin	MELHO	7.4
Skin	MELJUSO	6.5
Skin	MEWO	8
Skin	RPMI7951	7.9
Skin	RVH421	7.2
Skin	SH4	4.7
Skin	SKMEL1	6.6
Skin	SKMEL24	7.2
Skin	SKMEL28	4.9
Skin	SKMEL2	4.9
Skin	SKMEL30	6.1
Skin	SKMEL31	6.5
Skin	SKMEL3	8
Skin	SKMEL5	5.8
Skin	UACC257	7.8
Skin	UACC62	5.7
Skin	WM115	7.2
Skin	WM1799	6.7
Skin	WM2664	6
Skin	WM793	7.8
Skin	WM88	5.8
Skin	WM983B	5.1
Small intestine	HUTU80	4.2
Soft tissue	A204	4.1
Soft tissue	G401	4.2
Soft tissue	G402	4
Soft tissue	GCT	4.1
Soft tissue	HS729	8.6
Soft tissue	HT1080	5.8
Soft tissue	KYM1	8.1
Soft tissue	MESSA	4
Soft tissue	RD	7.4
Soft tissue	RH30	4
Soft tissue	RH41	8.4
Soft tissue	RKN	6.5
Soft tissue	S117	8
Soft tissue	SJRH30	8
Soft tissue	SKLMS1	7.6
Soft tissue	SKUT1	4.1
Soft tissue	TE125T	6.3
Soft tissue	TE159T	7.8
Soft tissue	TE441T	5.1
Soft tissue	TE617T	4.3
Stomach	2313287	4.5
Stomach	AGS	4.2
Stomach	AZ521	4.2
Stomach	ECC10	4.3
Stomach	ECC12	9.1
Stomach	FU97	7.3
Stomach	GCIY	5.5
Stomach	GSS	4
Stomach	GSU	4.5
Stomach	HGC27	7.9
Stomach	HS746T	7.3
Stomach	HUG1N	4.2
Stomach	IM95	4.1
Stomach	KATOIII	4.1
Stomach	KE39	4.3
Stomach	LMSU	4.2
Stomach	MKN1	6.6
Stomach	MKN45	4.2
Stomach	MKN74	4.6
Stomach	MKN7	4.1
Stomach	NCCSTCK140	5.6
Stomach	NCIN87	4.3
Stomach	NUGC2	6.1
Stomach	NUGC3	4.4
Stomach	NUGC4	4.6
Stomach	OCUM1	4.6
Stomach	RERFGC1B	6.7
Stomach	SH10TC	4.2
Stomach	SNU16	4.2
Stomach	SNU1	4.2
Stomach	SNU216	4
Stomach	SNU520	4.2
Stomach	SNU5	4.3
Stomach	SNU601	4
Stomach	SNU620	4.2
Stomach	SNU668	4.3
Stomach	SNU719	4.2
Stomach	TGBC11TKB	4
Thyroid	8305C	7.9
Thyroid	8505C	5.5
Thyroid	BCPAP	7.8
Thyroid	BHT101	6
Thyroid	CAL62	4
Thyroid	CGTHW1	7.4
Thyroid	FTC133	6.5
Thyroid	FTC238	6.8
Thyroid	ML1	8.1
Thyroid	SW579	8.1
Thyroid	TT2609C02	4.4
Thyroid	TT	8.4
Upper aerodigestive tract	BHY	5.6
Upper aerodigestive tract	BICR16	6.9
Upper aerodigestive tract	BICR18	5.3
Upper aerodigestive tract	BICR22	3.9
Upper aerodigestive tract	BICR31	6.1
Upper aerodigestive tract	BICR56	6.8
Upper aerodigestive tract	BICR6	6.8
Upper aerodigestive tract	CAL27	4.7
Upper aerodigestive tract	CAL33	5
Upper aerodigestive tract	DETROIT562	5.7
Upper aerodigestive tract	FADU	5.6
Upper aerodigestive tract	HS840T	5.1
Upper aerodigestive tract	HSC2	5.1
Upper aerodigestive tract	HSC3	5.6
Upper aerodigestive tract	HSC4	8
Upper aerodigestive tract	PECAPJ15	5.9
Upper aerodigestive tract	PECAPJ34CLONEC12	7.2
Upper aerodigestive tract	PECAPJ41CLONED2	5.5
Upper aerodigestive tract	PECAPJ49	4.9
Upper aerodigestive tract	SCC15	6
Upper aerodigestive tract	SCC25	6.5
Upper aerodigestive tract	SCC4	7.6
Upper aerodigestive tract	SCC9	6.5
Upper aerodigestive tract	SNU1076	6.1
Upper aerodigestive tract	SNU1214	7.7
Upper aerodigestive tract	SNU46	4.5
Upper aerodigestive tract	SNU899	6.2
Upper aerodigestive tract	YD10B	5.1
Upper aerodigestive tract	YD38	6
Upper aerodigestive tract	YD8	7
Urinary tract	5637	5.9
Urinary tract	639V	4.1
Urinary tract	647V	5.1
Urinary tract	BC3C	6.7
Urinary tract	BFTC905	6.8
Urinary tract	CAL29	8
Urinary tract	HS172T	5.8
Urinary tract	HT1197	8
Urinary tract	HT1376	6.6
Urinary tract	J82	4.3
Urinary tract	JMSU1	4.4
Urinary tract	KMBC2	7.1
Urinary tract	KU1919	6.3
Urinary tract	RT11284	7.1
Urinary tract	RT112	6.9
Urinary tract	RT4	7.6
Urinary tract	SCABER	6.4
Urinary tract	SW1710	6.2
Urinary tract	SW780	6.2
Urinary tract	T24	6.5
Urinary tract	TCCSUP	4.3
Urinary tract	UMUC1	3.9
Urinary tract	UMUC3	4.5
Urinary tract	VMCUB1	6.2

> The Human Protein Atlas (HPA)

Tissue	Expression Level (TPM)
Adipose tissue	5.6
Adrenal gland	2.5
Appendix	5
Bone marrow	1
Breast	6.2
Cerebral cortex	8.8
Cervix, uterine	11.9
Colon	3.6
Duodenum	1.8
Endometrium	13.7
Epididymis	8.8
Esophagus	5
Fallopian tube	12
Gallbladder	8.1
Heart muscle	2.1
Kidney	8.7
Liver	2.4
Lung	6
Lymph node	6.3
Ovary	10.5
Pancreas	1.2
Parathyroid gland	9.6
Placenta	10.3
Prostate	12.7
Rectum	4
Salivary gland	2
Seminal vesicle	13.8
Skeletal muscle	3.7
Skin	3.9
Small intestine	2.1
Smooth muscle	10.8
Spleen	5.2
Stomach	3.6
Testis	3.7
Thyroid gland	7.4
Tonsil	4.5
Urinary bladder	6.6

> Text Mining based Expression

PMID	Expression	Cancer	Evidence
22873195	overexpression (mutation)	Acute Myeloid Leukemia	In this study, we describe a PMF case evolved to AML with a t(12;18)(p13;q12) rearrangement showing the downregulation of the intronic miR_4319 and the overexpression of its host gene, SET binding protein (SETBP1).

Summary
Symbol	SETBP1
Name	SET binding protein 1
Aliases	SEB; KIAA0437; MRD29; SET-binding protein
Location	18q12.3
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)

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	0.009	0.852	41.1	44.6	14.4	Loss
BRCA	Breast invasive carcinoma	1075	0.243	7.38e-16	31.6	53	15.3	Neutral
CESC	Cervical and endocervical cancers	292	0.23	7.46e-05	26	62.7	11.3	Neutral
COAD	Colon adenocarcinoma	449	0.211	6.26e-06	61	35.9	3.1	Loss
ESCA	Esophageal carcinoma	183	0.378	1.3e-07	59.6	25.1	15.3	Loss
GBM	Glioblastoma multiforme	147	0.261	0.0014	12.9	73.5	13.6	Neutral
HNSC	Head and Neck squamous cell carcinoma	514	0.27	5.02e-10	46.3	43.6	10.1	Loss
KIRC	Kidney renal clear cell carcinoma	525	0.356	3.68e-17	18.1	77.1	4.8	Neutral
KIRP	Kidney renal papillary cell carcinoma	288	0.242	3.36e-05	15.6	81.2	3.1	Neutral
LAML	Acute Myeloid Leukemia	166	-0.159	0.0406	2.4	97.6	0	Neutral
LGG	Brain Lower Grade Glioma	513	0.218	5.97e-07	13.3	84	2.7	Neutral
LIHC	Liver hepatocellular carcinoma	364	0.174	0.000876	24.2	67.6	8.2	Neutral
LUAD	Lung adenocarcinoma	512	0.342	1.6e-15	46.3	41.2	12.5	Loss
LUSC	Lung squamous cell carcinoma	498	0.333	2.46e-14	39.2	40.4	20.5	Loss
OV	Ovarian serous cystadenocarcinoma	300	0.325	7.86e-09	54.7	28	17.3	Loss
PAAD	Pancreatic adenocarcinoma	177	0.567	1.79e-16	67.2	28.8	4	Loss
PCPG	Pheochromocytoma and Paraganglioma	162	0.241	0.00202	4.3	89.5	6.2	Neutral
PRAD	Prostate adenocarcinoma	491	0.264	2.78e-09	22.4	75.6	2	Neutral
READ	Rectum adenocarcinoma	164	0.259	0.000811	85.4	12.8	1.8	Loss
SARC	Sarcoma	255	0.318	2.06e-07	32.2	51	16.9	Neutral
SKCM	Skin Cutaneous Melanoma	367	0.223	1.57e-05	27.8	58	14.2	Neutral
STAD	Stomach adenocarcinoma	413	0.129	0.00844	43.3	47.5	9.2	Loss
TGCT	Testicular Germ Cell Tumors	150	0.142	0.0833	81.3	16.7	2	Loss
THCA	Thyroid carcinoma	497	0.048	0.284	0.8	98	1.2	Neutral
THYM	Thymoma	119	0.125	0.177	5.9	91.6	2.5	Neutral
UCEC	Uterine Corpus Endometrial Carcinoma	537	0.143	0.000888	14.9	76.2	8.9	Neutral

Summary
Symbol	SETBP1
Name	SET binding protein 1
Aliases	SEB; KIAA0437; MRD29; SET-binding protein
Location	18q12.3
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

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	-0.332	3.09e-12	17	408	0.031	2.76e-06	NS/NA
BRCA	Breast invasive carcinoma	-0.476	0	83	785	0.041	0.763	NS/NA
CESC	Cervical and endocervical cancers	-0.327	4.8e-09	3	306	NA	NA	NS/NA
COAD	Colon adenocarcinoma	-0.28	4.9e-07	19	297	0.011	2.21e-11	NS/NA
ESCA	Esophageal carcinoma	-0.642	0	9	185	NA	NA	NS/NA
GBM	Glioblastoma multiforme	-0.295	0.0175	1	64	NA	NA	NS/NA
HNSC	Head and Neck squamous cell carcinoma	-0.309	2.64e-13	20	522	0.022	0.0786	NS/NA
KIRC	Kidney renal clear cell carcinoma	-0.446	0	24	319	0.197	1.45e-06	NS/NA
KIRP	Kidney renal papillary cell carcinoma	-0.402	6.85e-13	23	275	0.021	4.37e-08	NS/NA
LAML	Acute Myeloid Leukemia	-0.427	8.94e-09	0	170	NA	NA	NS/NA
LGG	Brain Lower Grade Glioma	-0.206	1.9e-06	0	530	NA	NA	NS/NA
LIHC	Liver hepatocellular carcinoma	-0.29	2.1e-09	41	373	0.042	1.12e-10	NS/NA
LUAD	Lung adenocarcinoma	-0.502	0	21	456	0.035	9.31e-29	NS/NA
LUSC	Lung squamous cell carcinoma	-0.345	6.9e-12	8	370	NA	NA	NS/NA
OV	Ovarian serous cystadenocarcinoma	-0.567	0.121	0	9	NA	NA	NS/NA
PAAD	Pancreatic adenocarcinoma	-0.41	1.14e-08	4	179	NA	NA	NS/NA
PCPG	Pheochromocytoma and Paraganglioma	-0.172	0.0187	3	184	NA	NA	NS/NA
PRAD	Prostate adenocarcinoma	-0.384	0	35	498	0.117	2.67e-07	NS/NA
READ	Rectum adenocarcinoma	-0.417	1.72e-05	2	99	NA	NA	NS/NA
SARC	Sarcoma	-0.654	0	0	263	NA	NA	NS/NA
SKCM	Skin Cutaneous Melanoma	-0.206	7.07e-06	1	471	NA	NA	NS/NA
STAD	Stomach adenocarcinoma	-0.49	0	0	372	NA	NA	NS/NA
TGCT	Testicular Germ Cell Tumors	-0.273	0.000598	0	156	NA	NA	NS/NA
THCA	Thyroid carcinoma	-0.247	3.64e-09	50	509	0.026	0.00119	NS/NA
THYM	Thymoma	-0.626	0	2	120	NA	NA	NS/NA
UCEC	Uterine Corpus Endometrial Carcinoma	-0.23	5.8e-07	34	431	0	0.00894	NS/NA

Summary
Symbol	SETBP1
Name	SET binding protein 1
Aliases	SEB; KIAA0437; MRD29; SET-binding protein
Location	18q12.3
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)

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

Summary
Symbol	SETBP1
Name	SET binding protein 1
Aliases	SEB; KIAA0437; MRD29; SET-binding protein
Location	18q12.3
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

Association between expresson and subtype.

Cancer	Full Name	# Patients	P Value (Kruskal-Wallis)	Association	Source
BLCA	Bladder urothelial carcinoma	128	0.204	NS	24476821
BRCA	Breast invasive carcinoma	521	1.19e-16	Significant	23000897
COAD	Colon adenocarcinoma	149	0.609	NS	22810696
GBM	Glioblastoma multiforme	157	3.1e-05	Significant	26824661
HNSC	Head and Neck squamous cell carcinoma	279	0.0264	Significant	25631445
KIRP	Kidney renal papillary cell carcinoma	161	0.252	NS	26536169
LGG	Brain Lower Grade Glioma	513	2.34e-09	Significant	26824661
LUAD	Lung adenocarcinoma	230	3.43e-06	Significant	25079552
LUSC	Lung squamous cell carcinoma	178	0.167	NS	22960745
OV	Ovarian serous cystadenocarcinoma	287	0.00405	Significant	21720365
PRAD	Prostate adenocarcinoma	333	0.00818	Significant	26544944
READ	Rectum adenocarcinoma	67	0.44	NS	22810696
SKCM	Skin Cutaneous Melanoma	315	0.0448	Significant	26091043
STAD	Stomach adenocarcinoma	277	3.16e-17	Significant	25079317
THCA	Thyroid carcinoma	391	0.0015	Significant	25417114
UCEC	Uterine Corpus Endometrial Carcinoma	232	0.0606	NS	23636398

> Overall survival

Overall survival analysis based on expression.

Cancer	Full Name	# Patients	Hazard Ratio	P Value (Log Rank Test)	Association
BLCA	Bladder urothelial carcinoma	405	2.543	1.5e-05	Shorter
BRCA	Breast invasive carcinoma	1079	0.884	0.571	NS
CESC	Cervical and endocervical cancers	291	1.262	0.448	NS
COAD	Colon adenocarcinoma	439	1.144	0.65	NS
ESCA	Esophageal carcinoma	184	0.858	0.634	NS
GBM	Glioblastoma multiforme	158	0.775	0.33	NS
HNSC	Head and Neck squamous cell carcinoma	518	1.15	0.481	NS
KIRC	Kidney renal clear cell carcinoma	531	0.332	5.15e-06	Longer
KIRP	Kidney renal papillary cell carcinoma	287	0.696	0.385	NS
LAML	Acute Myeloid Leukemia	149	1.377	0.249	NS
LGG	Brain Lower Grade Glioma	511	0.55	0.019	Longer
LIHC	Liver hepatocellular carcinoma	365	0.969	0.894	NS
LUAD	Lung adenocarcinoma	502	0.749	0.17	NS
LUSC	Lung squamous cell carcinoma	494	1.056	0.779	NS
OV	Ovarian serous cystadenocarcinoma	303	0.848	0.462	NS
PAAD	Pancreatic adenocarcinoma	177	0.453	0.0129	Longer
PCPG	Pheochromocytoma and Paraganglioma	179	0.862	0.883	NS
PRAD	Prostate adenocarcinoma	497	0	0.261	NS
READ	Rectum adenocarcinoma	159	1.748	0.371	NS
SARC	Sarcoma	259	0.859	0.577	NS
SKCM	Skin Cutaneous Melanoma	459	1.191	0.355	NS
STAD	Stomach adenocarcinoma	388	1.864	0.00762	Shorter
TGCT	Testicular Germ Cell Tumors	134	0.915	0.95	NS
THCA	Thyroid carcinoma	500	3.059	0.143	NS
THYM	Thymoma	119	1.006	0.995	NS
UCEC	Uterine Corpus Endometrial Carcinoma	543	1.906	0.0301	Shorter

> Stage

Association between expresson and stage.

Cancer	Full Name	# Patients	R Value (Spearman)	P Value (Spearman)	Association
BLCA	Bladder urothelial carcinoma	406	0.143	0.00394	Higher
BRCA	Breast invasive carcinoma	1071	-0.076	0.0133	Lower
CESC	Cervical and endocervical cancers	167	-0.08	0.301	NS
COAD	Colon adenocarcinoma	445	0.035	0.457	NS
ESCA	Esophageal carcinoma	162	0.042	0.6	NS
HNSC	Head and Neck squamous cell carcinoma	448	-0.099	0.0363	Lower
KIRC	Kidney renal clear cell carcinoma	531	-0.203	2.29e-06	Lower
KIRP	Kidney renal papillary cell carcinoma	260	-0.117	0.0594	NS
LIHC	Liver hepatocellular carcinoma	347	-0.04	0.454	NS
LUAD	Lung adenocarcinoma	507	-0.115	0.00926	Lower
LUSC	Lung squamous cell carcinoma	497	-0.024	0.596	NS
OV	Ovarian serous cystadenocarcinoma	302	-0.049	0.393	NS
PAAD	Pancreatic adenocarcinoma	176	-0.135	0.0744	NS
READ	Rectum adenocarcinoma	156	0.103	0.202	NS
SKCM	Skin Cutaneous Melanoma	410	0.045	0.363	NS
STAD	Stomach adenocarcinoma	392	0.16	0.00144	Higher
TGCT	Testicular Germ Cell Tumors	81	0.09	0.427	NS
THCA	Thyroid carcinoma	499	-0.078	0.082	NS
UCEC	Uterine Corpus Endometrial Carcinoma	501	0.029	0.511	NS

> Grade

Association between expresson and grade.

Cancer	Full Name	# Patients	R Value (Spearman)	P Value (Spearman)	Association
CESC	Cervical and endocervical cancers	272	0.082	0.175	NS
HNSC	Head and Neck squamous cell carcinoma	498	-0.015	0.74	NS
KIRC	Kidney renal clear cell carcinoma	525	-0.214	7.91e-07	Lower
LGG	Brain Lower Grade Glioma	514	-0.072	0.103	NS
LIHC	Liver hepatocellular carcinoma	366	-0.052	0.317	NS
OV	Ovarian serous cystadenocarcinoma	296	0.049	0.398	NS
PAAD	Pancreatic adenocarcinoma	176	-0.18	0.0171	Lower
STAD	Stomach adenocarcinoma	406	0.239	1.06e-06	Higher
UCEC	Uterine Corpus Endometrial Carcinoma	534	-0.026	0.543	NS

Summary
Symbol	SETBP1
Name	SET binding protein 1
Aliases	SEB; KIAA0437; MRD29; SET-binding protein
Location	18q12.3
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	SETBP1
Name	SET binding protein 1
Aliases	SEB; KIAA0437; MRD29; SET-binding protein
Location	18q12.3
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 SETBP1.

Summary
Symbol	SETBP1
Name	SET binding protein 1
Aliases	SEB; KIAA0437; MRD29; SET-binding protein
Location	18q12.3
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

PMID	Cancer	Hierarchy	Gene	Relation to CR	Evidence
24442206	Primary Myelodysplastic Syndrome	partner	ASXL1	association	ASXL1 mutation was closely associated with trisomy 8 and mutations of RUNX1, EZH2, IDH, NRAS, JAK2, SETBP1 and SRSF2, but was negatively associated with SF3B1 mutation.
26202160	Lipoma; Osteochondrolipoma	partner	HMGA2	Fusion	In three lipomas and in the osteochondrolipoma, exons 1-3 of HMGA2 were fused to a sequence of SETBP1 on 18q12.3 or an intragenic sequence from 18q12.3 circa 10 kbp distal to SETBP1.
26883102	Myeloid Neoplasm	partner	RAS	association	There was a significant association between mutations in SETBP1 and RAS (p = 0.003).