Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
TTC30B	150737	broad.mit.edu	37	2	178416956	178416956	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr2:178416956G>A	ENST00000408939.2	-	1	786	c.536C>T	c.(535-537)gCc>gTc	p.A179V		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	179				Missing (in Ref. 1; BAB70953).	cell projection organization	cilium	binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			CTGCAGGGCGGCAAAAAACTT	0.542000													4	96					0	0	1	0	0
GPR132	29933	broad.mit.edu	37	14	105518014	105518014	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr14:105518014G>A	ENST00000329797.3	-	4	1371	c.460C>T	c.(460-462)Cgc>Tgc	p.R154C	GPR132_ENST00000546679.1_5'UTR|GPR132_ENST00000539291.2_Missense_Mutation_p.R154C|GPR132_ENST00000392585.2_Missense_Mutation_p.R145C	NM_013345.2	NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	154	Poly-Arg.				response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		CTCCGGCGGCGGCGGCCCCGA	0.612000													34	30					0	0	1	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33960315	33960315	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr1:33960315G>C	ENST00000361328.3	+	8	2524	c.2371G>C	c.(2371-2373)Gaa>Caa	p.E791Q		NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	791					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TCACACGGGGGAAAAGCCCTA	0.443000													25	71					0	0	1	0	0
HLA-V	0	broad.mit.edu	37	6	29761785	29761785	+	RNA	SNP	A	A	G			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr6:29761785A>G	ENST00000457107.1	+	0	1011																											attggtgcaaagccctgcttc	0.557000													2	1					0	0	1	0	0
IPO8	10526	broad.mit.edu	37	12	30843474	30843474	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr12:30843474C>T	ENST00000256079.4	-	2	460	c.122G>A	c.(121-123)cGg>cAg	p.R41Q		NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	41	Importin N-terminal.				intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GACTATAATCCGAAGTAAACT	0.343000													16	80					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7579329	7579329	+	Missense_Mutation	SNP	T	T	C	rs121912658		TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr17:7579329T>C	ENST00000420246.2	-	4	490	c.358A>G	c.(358-360)Aag>Gag	p.K120E	TP53_ENST00000269305.4_Missense_Mutation_p.K120E|TP53_ENST00000455263.2_Missense_Mutation_p.K120E|TP53_ENST00000413465.2_Missense_Mutation_p.K120E|TP53_ENST00000359597.4_Missense_Mutation_p.K120E|TP53_ENST00000445888.2_Missense_Mutation_p.K120E	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	120	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.	Interaction with DNA.	K -> E (in sporadic cancers; somatic mutation).|K -> M (in sporadic cancers; somatic mutation).|K -> Q (in a sporadic cancer; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.K120E(3)|p.G59fs*23(3)|p.K120*(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.T118fs*27(1)|p.H115fs*27(1)|p.Y107fs*44(1)|p.K120Q(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.K120fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTCACAGACTTGGCTGTCCCA	0.562000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			28	23					0	0	1	0	0
GRIA4	0	broad.mit.edu	37	11	105769151	105769151	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr11:105769151A>G	ENST00000393127.2	+	7	1329	c.883A>G	c.(883-885)Aag>Gag	p.K295E	GRIA4_ENST00000525187.1_Missense_Mutation_p.K295E|GRIA4_ENST00000282499.5_Missense_Mutation_p.K295E|GRIA4_ENST00000530497.1_Missense_Mutation_p.K295E|GRIA4_ENST00000428631.2_Missense_Mutation_p.K295E|GRIA4_ENST00000393125.2_Missense_Mutation_p.K295E	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	295					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	GACTCCTCCAAAGGTATTTGT	0.313000													21	37					0	0	1	0	0
ACSM4	341392	broad.mit.edu	37	12	7475909	7475909	+	Splice_Site	SNP	A	A	G			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr12:7475909A>G	ENST00000399422.4	+	8	1253	c.1206_splice	c.e8+1	p.Q402_splice		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	402					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						TATGATGTCCAGGTAGGTTGA	0.398000													3	7					0	0	1	0	0
FHOD1	29109	broad.mit.edu	37	16	67267991	67267991	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr16:67267991G>A	ENST00000258201.4	-	13	1862	c.1615C>T	c.(1615-1617)Ctc>Ttc	p.L539F	FHOD1_ENST00000567687.1_Missense_Mutation_p.L118F	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	539	FH1.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		CCAATAGAGAGCCTGGGTGCA	0.597000													40	64					0	0	1	0	0
ZNF860	344787	broad.mit.edu	37	3	32031962	32031962	+	Missense_Mutation	SNP	A	A	G	rs1808125	by1000genomes	TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr3:32031962A>G	ENST00000360311.4	+	2	1940	c.1391A>G	c.(1390-1392)cAt>cGt	p.H464R		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	464					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						AAGACCTTCCATCACAATTCA	0.418000													4	75					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24813330	24813330	+	Silent	SNP	C	C	T			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr10:24813330C>T	ENST00000376451.2	+	8	1844	c.1584C>T	c.(1582-1584)gcC>gcT	p.A528A	KIAA1217_ENST00000396446.1_Silent_p.A528A|KIAA1217_ENST00000458595.1_Silent_p.A810A|KIAA1217_ENST00000307544.6_Silent_p.A528A|KIAA1217_ENST00000376452.3_Silent_p.A810A|KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000396445.1_Silent_p.A528A|KIAA1217_ENST00000376462.1_Silent_p.A765A|KIAA1217_ENST00000376454.3_Silent_p.A845A			Q5T5P2	SKT_HUMAN	KIAA1217	845					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AGGCCACAGCCGCAGAAGTCC	0.607000													3	36					0	0	1	0	0
MAST1	22983	broad.mit.edu	37	19	12976207	12976207	+	Silent	SNP	T	T	C			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr19:12976207T>C	ENST00000251472.4	+	15	1755	c.1716T>C	c.(1714-1716)gcT>gcC	p.A572A		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	572	Protein kinase.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						ACTGGTGGGCTATGGGGATCA	0.607000													5	81					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151945155	151945155	+	Silent	SNP	A	A	T			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr7:151945155A>T	ENST00000355193.2	-	14	2582	c.2364T>A	c.(2362-2364)tcT>tcA	p.S788S	KMT2C_ENST00000262189.6_Silent_p.S788S					lysine (K)-specific methyltransferase 2C																		GCAAGTCTGAAGAAGGTGTTG	0.433000													13	295					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								23	50					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3228566	3228566	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chrX:3228566T>C	ENST00000217939.6	-	7	7832	c.7678A>G	c.(7678-7680)Atc>Gtc	p.I2560V		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2560	Ig-like C2-type 10.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TTGAGGCTGATGGTGTGGCCC	0.632000													5	0					0	0	1	0	0
CASP8	841	broad.mit.edu	37	2	202149727	202149727	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr2:202149727G>A	ENST00000358485.4	+	8	1364	c.1168G>A	c.(1168-1170)Gcc>Acc	p.A390T	CASP8_ENST00000432109.2_Missense_Mutation_p.A331T|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264274.9_Missense_Mutation_p.A247T|CASP8_ENST00000264275.5_Missense_Mutation_p.A348T|CASP8_ENST00000323492.7_Missense_Mutation_p.A316T	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	331					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TGGACAGGAGGCCCCCATCTA	0.483000										HNSCC(4;0.00038)			39	61					0	0	1	0	0
CLMN	79789	broad.mit.edu	37	14	95669569	95669569	+	Missense_Mutation	SNP	T	T	C	rs145305362		TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr14:95669569T>C	ENST00000298912.4	-	9	2230	c.2117A>G	c.(2116-2118)gAa>gGa	p.E706G		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	706						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		ATCCAGGCCTTCTTCGCTGTG	0.567000													22	36					0	0	1	0	0
CYP11B2	1585	broad.mit.edu	37	8	143999219	143999219	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr8:143999219G>A	ENST00000323110.2	-	1	40	c.38C>T	c.(37-39)gCg>gTg	p.A13V		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	13					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	CAGCCAGGGCGCTGCCACGCA	0.632000									Familial Hyperaldosteronism type I				93	49					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76939375	76939375	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chrX:76939375G>T	ENST00000373344.5	-	9	1587	c.1373C>A	c.(1372-1374)tCa>tAa	p.S458*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.S420*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	458					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTCTGACTTTGAAATATCCTT	0.353000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						137	14					2.23197e-56	2.29761e-56	1	1	0
BAGE2	85319	broad.mit.edu	37	21	11038897	11038897	+	RNA	SNP	A	A	T			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr21:11038897A>T	ENST00000470054.1	-	0	1306									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GCAAGTCTGAAGAAGGTGTTG	0.433000													5	282					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90397870	90397870	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr6:90397870A>C	ENST00000369393.3	-	67	11397	c.11282T>G	c.(11281-11283)aTt>aGt	p.I3761S	MDN1_ENST00000428876.1_Missense_Mutation_p.I3761S			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3761					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GAAACTACGAATTCTGTCCAT	0.448000													60	83					0	0	1	0	0
TUT1	64852	broad.mit.edu	37	11	62342669	62342669	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr11:62342669C>T	ENST00000476907.1	-	9	3213	c.2522G>A	c.(2521-2523)cGa>cAa	p.R841Q	TUT1_ENST00000308436.7_Missense_Mutation_p.R879Q|MIR3654_ENST00000496634.2_Intron			Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6 snRNA-specific	841					mRNA cleavage|mRNA polyadenylation|snRNA processing	nuclear speck|nucleolus	ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						AGTGAGCATTCGGTCAGCCGG	0.567000													4	74					0	0	1	0	0
UPK1B	7348	broad.mit.edu	37	3	118913081	118913081	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr3:118913081G>A	ENST00000264234.3	+	6	633	c.484G>A	c.(484-486)Gta>Ata	p.V162I	UPK1B_ENST00000460625.1_Missense_Mutation_p.V154I|UPK1B_ENST00000497685.1_Missense_Mutation_p.V82I	NM_006952.3	NP_008883.2	O75841	UPK1B_HUMAN	uroplakin 1B	162					epithelial cell differentiation	integral to membrane	structural molecule activity			breast(1)|endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	14				GBM - Glioblastoma multiforme(114;0.222)		TTGCTGTGGCGTAAATGGTCC	0.428000													3	59					0	0	1	0	0
VIL1	7429	broad.mit.edu	37	2	219305467	219305467	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr2:219305467A>G	ENST00000248444.5	+	19	2340	c.2252A>G	c.(2251-2253)gAc>gGc	p.D751G	VIL1_ENST00000392114.2_Missense_Mutation_p.D440G	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	751	Headpiece.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCAAAGTGGACGTGTTCAAT	0.542000													17	34					0	0	1	0	0
LAD1	3898	broad.mit.edu	37	1	201355872	201355872	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr1:201355872A>G	ENST00000391967.2	-	3	918	c.617T>C	c.(616-618)gTg>gCg	p.V206A	LAD1_ENST00000367313.3_Missense_Mutation_p.V220A	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	206	8 X SEK repeats.					basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						TGAGGCCAGCACCTTCTCAGA	0.468000													4	171					0	0	1	0	0
ITGA10	8515	broad.mit.edu	37	1	145527998	145527998	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr1:145527998delG	ENST00000369304.3	+	3	410	c.235delG	c.(235-237)ggfs	p.G80fs	ITGA10_ENST00000539363.1_Intron|ITGA10_ENST00000538811.1_Intron	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	80					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTGCCCTGTAGGGGGGGCCCA	0.582													2	4	---	---	---	---					
APPL1	26060	broad.mit.edu	37	3	57294042	57294042	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr3:57294042delT	ENST00000288266.3	+	17	1800	c.1653delT	c.(1651-1653)tgfs	p.C551fs		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	551	PID.				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		CTTGTGACTGTTTAAAGTAAG	0.313													23	32	---	---	---	---					
TRGC1	0	broad.mit.edu	37	7	38301855	38301856	+	RNA	DEL	GT	GT	-			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr7:38301855_38301856delGT	ENST00000443402.2	-	0	330					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1																					TCAATTGTTCGTGTGTGTGTGT	0.356													7	72	---	---	---	---