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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
CROCCP2	84809	broad.mit.edu	37	1	16946407	16946407	+	RNA	SNP	T	G	G	rs10796418	by1000genomes	TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr1:16946407T>G	uc010ocf.2	-	2		c.491A>C			CROCCP2_uc009vov.2_Non-coding_Transcript|CROCCP2_uc001aze.3_Non-coding_Transcript|CROCCP2_uc001azf.3_Non-coding_Transcript					Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 2 (CROCCP2), non-coding RNA.																		AGCAATCTCCTCACTCAGCTG	0.672000														8			3		0	0	0.004672	0	0
EFNB2	1948	broad.mit.edu	37	13	107147326	107147326	+	Silent	SNP	T	A	A			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr13:107147326T>A	uc001vqi.3	-	3	592	c.516A>T	c.(514-516)ggA>ggT	p.G172G		NM_004093	NP_004084	P52799	EFNB2_HUMAN	Homo sapiens ephrin-B2 (EFNB2), mRNA.	172					cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					TCCTGGTTGATCCAGCAGAAC	0.383000														111			90		0	0	0.014410	0	0
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	T	T	rs28934576	by1000genomes	TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr17:7577120C>T	uc002gim.2	-	7	1012	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(1040)|p.R273C(471)|p.R273L(185)|p.V272M(75)|p.R273P(63)|p.V272L(26)|p.R273S(15)|p.R273G(9)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.V272G(5)|p.R273fs*72(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*33(3)|p.R273fs*32(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.S269fs*21(1)|p.V272>?(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(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)		GGCACAAACACGCACCTCAAA	0.542000	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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)				34			13		0	0	0.002450	0	0
GADL1	339896	broad.mit.edu	37	3	30885753	30885753	+	Silent	SNP	A	G	G			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr3:30885753A>G	uc003cep.2	-	7	782	c.735T>C	c.(733-735)ggT>ggC	p.G245G	GADL1_uc003ceq.1_Silent_p.G245G	NM_207359	NP_997242	Q6ZQY3	GADL1_HUMAN	Homo sapiens glutamate decarboxylase-like 1 (GADL1), mRNA.	245					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding	p.G244R(1)|p.G244K(1)|p.G244E(1)		breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25					Pyridoxal Phosphate(DB00114)	GTATCATTTTACCTCTAAGGG	0.433000														106			79		0	0	0.014410	0	0
DKFZP586I1420	222161	broad.mit.edu	37	7	30412093	30412093	+	RNA	SNP	C	G	G			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr7:30412093C>G	uc003tau.3	+	0		c.2428C>G								Homo sapiens uncharacterized protein DKFZp586I1420 (DKFZP586I1420), non-coding RNA.																		AAATTGAATTCCCAACCTGCA	0.468000														54			20		0	0	0.007413	0	0
TIAM1	7074	broad.mit.edu	37	21	32617956	32617956	+	Missense_Mutation	SNP	C	G	G			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr21:32617956C>G	uc002yow.1	-	6	1904	c.1432G>C	c.(1432-1434)Gag>Cag	p.E478Q	TIAM1_uc011adk.1_Missense_Mutation_p.E478Q|TIAM1_uc011adl.1_Missense_Mutation_p.E478Q|TIAM1_uc002yox.1_Missense_Mutation_p.E86Q	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.	478	PH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity	p.Y477Y(1)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CCGTCGCTCTCGTAGAAAAAT	0.527000														41			10		0	0	0.008291	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	T	rs121913500		TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	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|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(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									46			36		0	0	0.008740	0	0
HERC3	8916	broad.mit.edu	37	4	89583639	89583639	+	Missense_Mutation	SNP	A	G	G			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr4:89583639A>G	uc003hrw.1	+	10	1370	c.1204A>G	c.(1204-1206)Ata>Gta	p.I402V	HERC3_uc011cdn.1_Missense_Mutation_p.I284V|HERC3_uc011cdo.1_Intron	NM_014606	NP_055421	Q15034	HERC3_HUMAN	Homo sapiens hect domain and RLD 3 (HERC3), mRNA.	402					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		TACCAGTTTAATAAATGATGA	0.333000														60			45		0	0	0.014410	0	0
SPATA18	132671	broad.mit.edu	37	4	52945942	52945942	+	Missense_Mutation	SNP	G	T	T			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr4:52945942G>T	uc003gzl.3	+	8	1490	c.1212G>T	c.(1210-1212)aaG>aaT	p.K404N	SPATA18_uc010igl.1_Non-coding_Transcript|SPATA18_uc011bzq.2_Missense_Mutation_p.K372N|SPATA18_uc003gzk.1_Missense_Mutation_p.K404N	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	Homo sapiens spermatogenesis associated 18 (SPATA18), mRNA.	404					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding	p.K404N(3)|p.P403P(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TCAATCCCAAGATTTCATTCC	0.443000														287			8		7.48243e-07	9.01293e-07	0.006214	1	0
MAP3K5	4217	broad.mit.edu	37	6	136935398	136935398	+	Missense_Mutation	SNP	A	G	G			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr6:136935398A>G	uc003qhc.3	-	15	2538	c.2177T>C	c.(2176-2178)aTa>aCa	p.I726T	MAP3K5_uc011edj.2_5'UTR|MAP3K5_uc011edk.1_Missense_Mutation_p.I571T	NM_005923	NP_005914	Q99683	M3K5_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 5 (MAP3K5), mRNA.	726	Protein kinase.				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|MAP kinase kinase kinase activity|caspase activator activity|magnesium ion binding|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		ATGCAATGCTATTTCTTCATG	0.363000														100			64		0	0	0.014410	0	0
MTOR	2475	broad.mit.edu	37	1	11184570	11184570	+	Missense_Mutation	SNP	A	G	G			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr1:11184570A>G	uc001asd.3	-	46	6768	c.6647T>C	c.(6646-6648)cTt>cCt	p.L2216P	MTOR_uc001asc.3_Missense_Mutation_p.L421P	NM_004958	NP_004949	P42345	MTOR_HUMAN	Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.	2216	PI3K/PI4K.				T cell costimulation|TOR signaling cascade|cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient	Golgi membrane|PML body|TORC1 complex|TORC2 complex|endoplasmic reticulum membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	p.S2215Y(4)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						GTTTTTCCGAAGAGATGTTGG	0.443000														6			32		0	0	0.004289	0	0
PLXNA3	55558	broad.mit.edu	37	X	153695648	153695648	+	Missense_Mutation	SNP	G	T	T			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chrX:153695648G>T	uc004flm.3	+	18	3448	c.3275G>T	c.(3274-3276)cGg>cTg	p.R1092L		NM_017514	NP_059984	P51805	PLXA3_HUMAN	Homo sapiens plexin A3 (PLXNA3), mRNA.	1092	IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCCCAGCCTCGGGCGCAAGGC	0.617000														112			28		4.65686e-17	5.87652e-17	0.003755	1	0
THOP1	7064	broad.mit.edu	37	19	2810741	2810741	+	Missense_Mutation	SNP	G	T	T			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr19:2810741G>T	uc002lwj.3	+	10	1901	c.1746G>T	c.(1744-1746)gaG>gaT	p.E582D	THOP1_uc010xgz.2_Missense_Mutation_p.E461D|THOP1_uc002lwk.3_Missense_Mutation_p.E93D	NM_003249	NP_003240	P52888	THOP1_HUMAN	Homo sapiens thimet oligopeptidase 1 (THOP1), mRNA.	582					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTGCCAGGAGATCCTCGGGG	0.662000														9			4		0.000602214	0.000709275	0.000602	1	0
ADH1A	124	broad.mit.edu	37	4	100205754	100205754	+	Silent	SNP	G	A	A			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr4:100205754G>A	uc003hur.2	-	4	483	c.369C>T	c.(367-369)acC>acT	p.T123T	LOC100507053_uc003hum.2_Intron|ADH1A_uc010ilf.1_5'UTR	NM_000667	NP_000658	P07327	ADH1A_HUMAN	Homo sapiens alcohol dehydrogenase 1A (class I), alpha polypeptide (ADH1A), mRNA.	123					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	CATCCTGCAGGGTCCCCTGAG	0.517000														38			21		0	0	0.012319	0	0
EPHA7	2045	broad.mit.edu	37	6	93964475	93964475	+	Missense_Mutation	SNP	T	C	C			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr6:93964475T>C	uc003poe.3	-	13	2663	c.2422A>G	c.(2422-2424)Atc>Gtc	p.I808V	EPHA7_uc003pof.3_Missense_Mutation_p.I803V|EPHA7_uc011eac.2_Missense_Mutation_p.I804V	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	808	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CGGTACTGGATGGCTTCGGGT	0.373000														44			40		0	0	0.006999	0	0
FAM86FP	653113	broad.mit.edu	37	12	8388326	8388326	+	RNA	SNP	G	C	C	rs113732517		TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr12:8388326G>C	uc010sgk.2	-	2		c.283C>G								Homo sapiens family with sequence similarity 86, member F, pseudogene (FAM86FP), non-coding RNA.																		CGAGCCTCCCGAGGGCTGCAC	0.577000														35			4		0	0	0.000602	0	0
MTA2	9219	broad.mit.edu	37	11	62363998	62363998	+	Missense_Mutation	SNP	A	G	G			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr11:62363998A>G	uc001ntq.2	-	9	1279	c.889T>C	c.(889-891)Tgg>Cgg	p.W297R	MTA2_uc010rlx.1_Missense_Mutation_p.W124R	NM_004739	NP_004730	O94776	MTA2_HUMAN	Homo sapiens metastasis associated 1 family, member 2 (MTA2), mRNA.	297	SANT.				chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						AGTGACTTCCAGGGTAGCTAA	0.542000														60			20		0	0	0.014323	0	0
TUBB3	10381	broad.mit.edu	37	16	89986243	89986243	+	Missense_Mutation	SNP	G	A	A			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr16:89986243G>A	uc002fpf.2	+	0	985	c.577G>A	c.(577-579)Gtg>Atg	p.V193M	TUBB3_uc002fpe.4_Missense_Mutation_p.V193M|TUBB3_uc010ciz.1_5'Flank	NM_006086	NP_006077	Q13509	TBB3_HUMAN	Homo sapiens tubulin, beta 3 class III (TUBB3), transcript variant 1, mRNA.	0					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	p.L192L(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GCTGTGCCTCGTGGTCTTCTT	0.672000														47			4		0	0	0.009096	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	107462	107462	+	RNA	SNP	A	T	T			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chrGL000211.1:107462A>T	uc003boa.3	+	4		c.1002A>T								Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		GTAAGGGTCAATTTTTTATAT	0.294000														78			4		0	0	0.001168	0	0
FAM75E1	286234	broad.mit.edu	37	9	90502800	90502800	+	Missense_Mutation	SNP	G	A	A			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr9:90502800G>A	uc004app.4	+	3	3433	c.3398G>A	c.(3397-3399)cGc>cAc	p.R1133H		NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	1133						integral to membrane											CTTCCAGGCCGCCACATGGAC	0.642000														47			29		0	0	0.010818	0	0
SLC6A6	6533	broad.mit.edu	37	3	14520692	14520692	+	Splice_Site	SNP	T	C	C			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr3:14520692T>C	uc010heg.3	+	13	1850	c.1551_splice	c.e13+1	p.V517_splice	SLC6A6_uc003byq.3_Splice_Site_p.V517_splice|SLC6A6_uc003byr.3_Splice_Site	NM_001134367	NP_003034	P31641	SC6A6_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, taurine), member 6 (SLC6A6), transcript variant 2, mRNA.	517					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						GTTCTCTGTGTTGTGAGTTCC	0.517000														66			36		0	0	0.004289	0	0
EEA1	8411	broad.mit.edu	37	12	93244954	93244954	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr12:93244954C>T	uc001tck.3	-	8	996	c.731G>A	c.(730-732)cGt>cAt	p.R244H		NM_003566	NP_003557	Q15075	EEA1_HUMAN	Homo sapiens early endosome antigen 1 (EEA1), mRNA.	244					early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|GTP-dependent protein binding|calmodulin binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						TTCTCGCTCACGTTCCAAGGT	0.383000														41			35		0	0	0.013726	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72055666	72055666	+	Silent	SNP	C	T	T			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr14:72055666C>T	uc001xms.3	+	1	1438	c.1077C>T	c.(1075-1077)acC>acT	p.T359T	SIPA1L1_uc001xmt.3_Silent_p.T359T|SIPA1L1_uc001xmu.3_Silent_p.T359T|SIPA1L1_uc001xmv.3_Silent_p.T359T	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	359					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GGAGAAACACCACCACTGGAG	0.478000														91			3		0	0	0.004672	0	0
COL4A6	1288	broad.mit.edu	37	X	107406179	107406179	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chrX:107406179C>T	uc004enw.4	-	40	4265	c.4162G>A	c.(4162-4164)Gat>Aat	p.D1388N	COL4A6_uc004env.4_Missense_Mutation_p.D1387N|COL4A6_uc011msn.2_Missense_Mutation_p.D1363N|COL4A6_uc010npk.3_Missense_Mutation_p.D1330N|COL4A6_uc011msm.1_5'Flank	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	1388	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GGGATGCCATCGATCCCTGGT	0.592000									Alport syndrome with Diffuse Leiomyomatosis					174			116		0	0	0.014410	0	0
AS3MT	57412	broad.mit.edu	37	10	104650300	104650300	+	Splice_Site	SNP	G	A	A			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr10:104650300G>A	uc001kwj.3	+	14	1291	c.892_splice	c.e14-1	p.E298_splice	AS3MT_uc009xxh.3_Splice_Site_p.E296_splice|AS3MT_uc001kwk.3_Splice_Site_p.E296_splice	NM_020682	NP_065733	Q9HBK9	AS3MT_HUMAN	Homo sapiens arsenic (+3 oxidation state) methyltransferase (AS3MT), mRNA.	296					arsonoacetate metabolic process|toxin metabolic process	cytosol	arsenite methyltransferase activity|methylarsonite methyltransferase activity			large_intestine(1)|lung(6)	7		Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223)		CTACCCTTTAGGAAGGTGAAA	0.368000														91			3		0	0	0.009096	0	0
PDE1B	5153	broad.mit.edu	37	12	54968886	54968886	+	Missense_Mutation	SNP	G	A	A			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr12:54968886G>A	uc001sgd.2	+	10	1462	c.1069G>A	c.(1069-1071)Gac>Aac	p.D357N	PDE1B_uc010soz.2_Missense_Mutation_p.D220N|PDE1B_uc010spa.1_Missense_Mutation_p.D316N|PDE1B_uc001sge.3_Missense_Mutation_p.D337N|PDE1B_uc001sgf.3_Missense_Mutation_p.D220N|PDE1B_uc009znq.3_Missense_Mutation_p.D153N	NM_000924	NP_000915	Q01064	PDE1B_HUMAN	Homo sapiens phosphodiesterase 1B, calmodulin-dependent (PDE1B), transcript variant 1, mRNA.	357	Catalytic (By similarity).				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						AACCAGGATTGACAAGCCCAA	0.537000														95			8		0	0	0.006214	0	0
LPAL2	80350	broad.mit.edu	37	6	160906846	160906846	+	Splice_Site	SNP	C	T	T	rs138121216	by1000genomes	TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr6:160906846C>T	uc003qtj.2	-	5		c.850_splice	c.e5+1		LPAL2_uc011efy.2_Splice_Site					Homo sapiens lipoprotein, Lp(a)-like 2, pseudogene (LPAL2), transcript variant 2, non-coding RNA.											large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		CAAAGACGTACGCATTTGGGT	0.463000														187			100		0	0	0.014410	0	0
KRAS	3845	broad.mit.edu	37	12	25398306	25398306	+	Missense_Mutation	SNP	T	C	C	rs121918682		TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr12:25398306T>C	uc001rgp.1	-	1	194	c.13A>G	c.(13-15)Aaa>Gaa	p.K5E	KRAS_uc001rgq.1_Missense_Mutation_p.K5E|KRAS_uc001rgr.3_Non-coding_Transcript	NM_033360	NP_203524	P01116	RASK_HUMAN	Homo sapiens v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS), transcript variant a, mRNA.	5			K -> E (in NS3).|K -> N (in GASC; found also in a patient with Costello syndrome; exhibits only minor alterations in its in vitro biochemical behavior compared to wild- type protein).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	plasma membrane	GTP binding|GTPase activity|protein binding	p.K5N(2)|p.K5E(2)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			ACCACAAGTTTATATTCAGTC	0.358000		119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				31			20		0	0	0.010504	0	0
ODZ1	10178	broad.mit.edu	37	X	123680892	123680892	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chrX:123680892C>T	uc010nqy.3	-	14	2547	c.2483G>A	c.(2482-2484)tGt>tAt	p.C828Y	ODZ1_uc011muj.2_Missense_Mutation_p.C827Y|ODZ1_uc004euj.3_Missense_Mutation_p.C828Y	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	828					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	p.Q827K(1)		NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						ACTTATATAACAGTTGCTTTG	0.393000														68			38		0	0	0.007835	0	0
SLC26A8	116369	broad.mit.edu	37	6	35922951	35922951	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr6:35922951C>T	uc003olm.3	-	16	2321	c.2210G>A	c.(2209-2211)cGg>cAg	p.R737Q	SLC26A8_uc010jwa.3_Non-coding_Transcript|SLC26A8_uc003olk.3_Missense_Mutation_p.R319Q|SLC26A8_uc003oll.3_Missense_Mutation_p.R632Q|SLC26A8_uc003oln.3_Missense_Mutation_p.R737Q	NM_001193476	NP_443193	Q96RN1	S26A8_HUMAN	Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.	737	Interaction with RACGAP1.|STAS.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	p.R737L(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						GACTAACCCCCGTGAATCCAC	0.527000														92			59		0	0	0.014410	0	0
VHLL	391104	broad.mit.edu	37	1	156268966	156268966	+	Silent	SNP	C	T	T			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr1:156268966C>T	uc001fok.3	-	0	463	c.15G>A	c.(13-15)gcG>gcA	p.A5A		NM_001004319	NP_001004319	Q6RSH7	VHLL_HUMAN	Homo sapiens von Hippel-Lindau tumor suppressor-like (VHLL), mRNA.	5					protein ubiquitination	nucleus				endometrium(1)|lung(2)|ovary(1)	4	Hepatocellular(266;0.158)					CCCCGTTCCCCGCTCTCCAGG	0.597000														127			9		0	0	0.008291	0	0
PHEX	5251	broad.mit.edu	37	X	22095667	22095667	+	Silent	SNP	T	A	A			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chrX:22095667T>A	uc004dah.3	+	4	713	c.510T>A	c.(508-510)ctT>ctA	p.L170L	PHEX_uc011mjr.2_Silent_p.L170L|PHEX_uc011mjs.2_Silent_p.L73L	NM_000444	NP_000435	P78562	PHEX_HUMAN	Homo sapiens phosphate regulating endopeptidase homolog, X-linked (PHEX), mRNA.	170					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						GGCCCGTGCTTGAATCTAATA	0.473000														246			140		0	0	0.014410	0	0
C6orf108	10591	broad.mit.edu	37	6	43193850	43193850	+	Silent	SNP	C	T	T			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr6:43193850C>T	uc003ouo.3	-	2	314	c.297G>A	c.(295-297)ttG>ttA	p.L99L	C6orf108_uc003oup.3_Silent_p.L99L	NM_006443	NP_006434	O43598	RCL_HUMAN	Homo sapiens chromosome 6 open reading frame 108 (C6orf108), transcript variant 1, mRNA.	99					cell proliferation|deoxyribonucleoside monophosphate catabolic process|positive regulation of cell growth	cytoplasm|nucleus	deoxyribonucleoside 5'-monophosphate N-glycosidase activity|nucleoside deoxyribosyltransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|urinary_tract(1)	5			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0123)|OV - Ovarian serous cystadenocarcinoma(102;0.0531)			AGCCTACACCCAAGGATGGCT	0.607000														34			12		0	0	0.013537	0	0
EPPK1	83481	broad.mit.edu	37	8	144940690	144940690	+	Silent	SNP	G	A	A			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr8:144940690G>A	uc003zaa.1	-	0	6745	c.6732C>T	c.(6730-6732)agC>agT	p.S2244S		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2244						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCTGGTAGATGCTCATCTTCT	0.711000														53			10		0	0	0.008291	0	0
RRP7B	91695	broad.mit.edu	37	22	42971987	42971987	+	RNA	SNP	T	C	C	rs137064	by1000genomes	TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr22:42971987T>C	uc003bcs.3	-	5		c.707A>G			RRP7B_uc003bct.3_Non-coding_Transcript					Homo sapiens ribosomal RNA processing 7 homolog B (S. cerevisiae) (RRP7B), non-coding RNA.									p.Q59R(1)									CAGCTCTTTTTGGCTGCGCTT	0.672000														22			3		0	0	0.004672	0	0
MAGI3	260425	broad.mit.edu	37	1	114225640	114225640	+	Silent	SNP	A	G	G			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr1:114225640A>G	uc001edk.3	+	20	3631	c.3450A>G	c.(3448-3450)gaA>gaG	p.E1150E	MAGI3_uc001edi.4_3'UTR|MAGI3_uc010owm.2_3'UTR|MAGI3_uc001edj.3_3'UTR|MAGI3_uc009wgo.3_Non-coding_Transcript	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 3 (MAGI3), transcript variant 1, mRNA.	1175					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TAATTGAAGAATCTTTGAGAG	0.368000														41			3		0	0	0.004672	0	0
FRY	10129	broad.mit.edu	37	13	32747575	32747575	+	Silent	SNP	A	C	C			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr13:32747575A>C	uc001utx.3	+	18	2719	c.2223A>C	c.(2221-2223)gtA>gtC	p.V741V	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	741					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TCCACGCTGTAGAAGGTTTTG	0.468000														102			20		0	0	0.008871	0	0
CSH1	1442	broad.mit.edu	37	17	61972456	61972456	+	Missense_Mutation	SNP	T	C	C			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr17:61972456T>C	uc002jcs.2	-	4	730	c.580A>G	c.(580-582)Aag>Gag	p.K194E		NM_001317	NP_001308	P01243	CSH_HUMAN	Homo sapiens chorionic somatomammotropin hormone 1 (placental lactogen) (CSH1), mRNA.	194					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			central_nervous_system(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						TCCATGTCCTTCCTGAAGCAG	0.567000									Russell-Silver syndrome					108			80		0	0	0.014410	0	0
NEB	4703	broad.mit.edu	37	2	152409920	152409920	+	Missense_Mutation	SNP	G	A	A			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr2:152409920G>A	uc021vrb.1	-	97	14649	c.14620C>T	c.(14620-14622)Cgt>Tgt	p.R4874C	NEB_uc002txr.3_Missense_Mutation_p.R1340C|NEB_uc002txu.3_Missense_Mutation_p.R6575C|NEB_uc021vrc.1_Missense_Mutation_p.R6575C|NEB_uc010fnx.3_Missense_Mutation_p.R4862C|NEB_uc021vrd.1_Missense_Mutation_p.R4874C	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	4874					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ACATCATCACGTAGATCATAA	0.408000														35			44		0	0	0.010771	0	0
CYCS	54205	broad.mit.edu	37	7	25163609	25163609	+	Missense_Mutation	SNP	C	A	A	rs11548807		TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr7:25163609C>A	uc003sxl.3	-	1	300	c.130G>T	c.(130-132)Gcc>Tcc	p.A44S		NM_018947	NP_061820	P99999	CYC_HUMAN	Homo sapiens cytochrome c, somatic (CYCS), nuclear gene encoding mitochondrial protein, mRNA.	44					DNA fragmentation involved in apoptotic nuclear change|activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|respiratory electron transport chain|transport	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|mitochondrial matrix|nucleus|protein phosphatase type 2A complex|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding|protein binding			endometrium(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	4					Melatonin(DB01065)|Minocycline(DB01017)	TATCCAGGGGCCTGACCTGTC	0.443000														68			21		7.45023e-12	9.18284e-12	0.010504	1	0
ATP8B2	57198	broad.mit.edu	37	1	154306628	154306628	+	Missense_Mutation	SNP	G	A	A			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr1:154306628G>A	uc001fex.3	+	9	734	c.734G>A	c.(733-735)aGc>aAc	p.S245N	ATP8B2_uc001few.3_Missense_Mutation_p.S212N|ATP8B2_uc001fey.1_Missense_Mutation_p.S231N	NM_020452	NP_065185	P98198	AT8B2_HUMAN	Homo sapiens ATPase, class I, type 8B, member 2 (ATP8B2), transcript variant 1, mRNA.	231					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GACAAATTCAGCGGAACCCTC	0.512000														379			14		0	0	0.004007	0	0
KAT6B	23522	broad.mit.edu	37	10	76788415	76788415	+	Frame_Shift_Del	DEL	A	-	-			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr10:76788415delA	uc001jwn.1	+	17	4326	c.3833delA	c.(3832-3834)gaafs	p.E1278fs	KAT6B_uc001jwo.1_Frame_Shift_Del_p.E986fs|KAT6B_uc001jwp.1_Frame_Shift_Del_p.E1095fs	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	Homo sapiens K(lysine) acetyltransferase 6B (KAT6B), mRNA.	1278					histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										ACCCCGCCAGAAACACCCATG	0.493													---	71	---	---	31	---					
