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
UBR4	23352	broad.mit.edu	37	1	19468015	19468015	+	Missense_Mutation	SNP	C	C	G			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr1:19468015C>G	ENST00000375267.2	-	57	8317	c.8314G>C	c.(8314-8316)Gag>Cag	p.E2772Q	UBR4_ENST00000375254.3_Missense_Mutation_p.E2772Q|UBR4_ENST00000375217.2_Missense_Mutation_p.E2800Q|UBR4_ENST00000375226.2_Missense_Mutation_p.E2783Q			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2772					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ACCATCGACTCAGACTGCAGA	0.552000													11	45					0	0	1	0	0
POC1B-GALNT4	0	broad.mit.edu	37	12	89916698	89916698	+	Missense_Mutation	SNP	G	G	T			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr12:89916698G>T	ENST00000548729.1	-	3	1922	c.1620C>A	c.(1618-1620)caC>caA	p.H540Q	POC1B_ENST00000549504.1_Intron|POC1B-GALNT4_ENST00000547474.1_3'UTR|POC1B_ENST00000393179.4_Intron|GALNT4_ENST00000529983.2_Missense_Mutation_p.H543Q|POC1B_ENST00000313546.3_Intron|POC1B_ENST00000549035.1_Intron|POC1B-GALNT4_ENST00000413530.1_Missense_Mutation_p.H371Q|POC1B_ENST00000541909.1_Intron	NM_001199781.1|NM_001199782.1	NP_001186710.1|NP_001186711.1																					ACAGTCCTGAGTGTGGGTGAA	0.398000													8	72					1.06961e-07	1.06961e-07	1	1	0
TTYH3	80727	broad.mit.edu	37	7	2689592	2689592	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr7:2689592A>G	ENST00000258796.7	+	7	1046	c.841A>G	c.(841-843)Atg>Gtg	p.M281V	TTYH3_ENST00000407643.1_Missense_Mutation_p.M249V|TTYH3_ENST00000477439.1_3'UTR|TTYH3_ENST00000403167.1_Missense_Mutation_p.M110V	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	281						chloride channel complex|plasma membrane	chloride channel activity			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		CGTGACCAAAATGGTGGAGGA	0.622000													11	33					0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45397878	45397878	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr15:45397878C>T	ENST00000389039.6	-	18	2682	c.2297G>A	c.(2296-2298)cGc>cAc	p.R766H	DUOX2_ENST00000603300.1_Missense_Mutation_p.R766H			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	766					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CTCCAGGATGCGTTCCCGCTG	0.562000													26	46					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577532	7577532	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr17:7577532G>C	ENST00000420246.2	-	7	881	c.749C>G	c.(748-750)cCc>cGc	p.P250R	TP53_ENST00000413465.2_Missense_Mutation_p.P250R|TP53_ENST00000269305.4_Missense_Mutation_p.P250R|TP53_ENST00000455263.2_Missense_Mutation_p.P250R|TP53_ENST00000445888.2_Missense_Mutation_p.P250R|TP53_ENST00000359597.4_Missense_Mutation_p.P250R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	250	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		P -> A (in sporadic cancers; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> Q (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (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.P250L(45)|p.0?(8)|p.?(5)|p.P250H(4)|p.P250F(3)|p.P250N(2)|p.M246_P250delMNRRP(2)|p.P250_L252delPIL(2)|p.P250Q(2)|p.R248_P250delRRP(1)|p.P250_T253delPILT(1)|p.N247_P250delNRRP(1)|p.R249_P250delRP(1)|p.R249_T256delRPILTIIT(1)|p.I251fs*94(1)|p.R249_I251delRPI(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)		GGTGAGGATGGGCCTCCGGTT	0.577000		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)			3	32					0	0	1	0	0
IQGAP1	8826	broad.mit.edu	37	15	91016190	91016190	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr15:91016190G>A	ENST00000268182.5	+	19	2421	c.2297G>A	c.(2296-2298)cGa>cAa	p.R766Q	IQGAP1_ENST00000560738.1_Missense_Mutation_p.R194Q	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	766	IQ 1.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			CAGGAATTCCGATCCAGGATG	0.517000													36	73					0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	67023806	67023806	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr17:67023806A>G	ENST00000340001.4	-	13	1977	c.1766T>C	c.(1765-1767)aTt>aCt	p.I589T	ABCA9_ENST00000370732.2_Missense_Mutation_p.I589T|ABCA9_ENST00000453985.2_Missense_Mutation_p.I589T	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	589	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					ATGTGGCAAAATCCCTTTTAT	0.353000													3	62					0	0	1	0	0
IGHG3	0	broad.mit.edu	37	14	106237582	106237582	+	RNA	SNP	C	C	T	rs2983776		TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr14:106237582C>T	ENST00000390551.2	-	0	160																											GTAGGACAGCCGGGAAGGTGT	0.637000													3	57					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	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								14	43					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179438184	179438184	+	Silent	SNP	C	C	T			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr2:179438184C>T	ENST00000589042.1	-	326	72899	c.72675G>A	c.(72673-72675)ccG>ccA	p.P24225P	TTN_ENST00000359218.5_Silent_p.P15285P|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.P22584P|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.P21657P|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Silent_p.P15352P|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Silent_p.P15160P|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22584	Ig-like 121.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTTTTTGGGCGGATCAGGGG	0.438000													37	65					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178952048	178952048	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr3:178952048G>A	ENST00000263967.3	+	21	3260	c.3103G>A	c.(3103-3105)Gct>Act	p.A1035T		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1035	PI3K/PI4K.		A -> V (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.A1035T(2)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAGCAAGAGGCTTTGGAGTA	0.388000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			3	56					0	0	1	0	0
CWC22	57703	broad.mit.edu	37	2	180835797	180835797	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr2:180835797C>T	ENST00000410053.3	-	9	1110	c.811G>A	c.(811-813)Gaa>Aaa	p.E271K	CWC22_ENST00000295749.6_Missense_Mutation_p.E271K	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein homolog (S. cerevisiae)	271	MIF4G.					catalytic step 2 spliceosome	protein binding|RNA binding	p.E271K(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						CATAATACTTCGTGTGCCTTA	0.299000													4	12					0	0	1	0	0
ZNF792	126375	broad.mit.edu	37	19	35449165	35449165	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr19:35449165G>A	ENST00000404801.1	-	4	1980	c.1594C>T	c.(1594-1596)Cgg>Tgg	p.R532W	ZNF792_ENST00000605484.1_Missense_Mutation_p.R465W	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	532					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TCATAAGGCCGCTCGCCGGTG	0.517000													12	25					0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63933734	63933734	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr15:63933734G>C	ENST00000443617.2	-	60	11629	c.11542C>G	c.(11542-11544)Ccc>Gcc	p.P3848A		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3848					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CTCATGCAGGGAGCCATGTTC	0.483000													10	17					0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33586196	33586196	+	Silent	SNP	G	G	A			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr20:33586196G>A	ENST00000262873.7	+	31	4064	c.3972G>A	c.(3970-3972)acG>acA	p.T1324T		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1282						membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			ACGCAAGCACGCAGCGTGGGC	0.647000													25	58					0	0	1	0	0
EREG	2069	broad.mit.edu	37	4	75248410	75248410	+	Silent	SNP	C	C	T			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr4:75248410C>T	ENST00000244869.2	+	4	493	c.327C>T	c.(325-327)acC>acT	p.T109T	EREG_ENST00000503689.1_3'UTR	NM_001432.2	NP_001423.1	O14944	EREG_HUMAN	epiregulin	109					angiogenesis|cell-cell signaling|cytokine-mediated signaling pathway|epidermal growth factor receptor signaling pathway|female meiosis|keratinocyte differentiation|keratinocyte proliferation|luteinizing hormone signaling pathway|mRNA transcription|negative regulation of epithelial cell proliferation|negative regulation of smooth muscle cell differentiation|negative regulation of transcription, DNA-dependent|oocyte maturation|organ morphogenesis|ovarian cumulus expansion|ovulation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of DNA replication|positive regulation of epidermal growth factor receptor activity|positive regulation of fibroblast proliferation|positive regulation of innate immune response|positive regulation of interleukin-6 biosynthetic process|positive regulation of mitosis|positive regulation of phosphorylation|positive regulation of smooth muscle cell proliferation|primary follicle stage|wound healing	extracellular space|integral to plasma membrane	epidermal growth factor receptor binding|growth factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13			Lung(101;0.196)			TCTTTTTAACCGTCCACCAAC	0.368000													4	70					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77638042	77638042	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr3:77638042T>C	ENST00000461745.1	+	17	3541	c.2641T>C	c.(2641-2643)Tat>Cat	p.Y881H	ROBO2_ENST00000487694.3_Missense_Mutation_p.Y897H|ROBO2_ENST00000332191.8_Missense_Mutation_p.Y881H	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	881					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CATATGGTTGTATTGGCGAAG	0.408000													7	63					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179595438	179595438	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr2:179595438A>G	ENST00000589042.1	-	61	18046	c.17822T>C	c.(17821-17823)aTa>aCa	p.I5941T	TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.I5624T|TTN_ENST00000342992.6_Missense_Mutation_p.I4697T|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5624	Ig-like 40.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCCAGCCACTATACATTCTAA	0.358000													4	78					0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74003665	74003665	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr17:74003665C>T	ENST00000301607.3	-	22	5874	c.5621G>A	c.(5620-5622)cGt>cAt	p.R1874H	EVPL_ENST00000586740.1_Missense_Mutation_p.R1896H	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1874	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GTAGCGCTCACGGCTGAGCAG	0.627000													4	138					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577139	7577139	+	Missense_Mutation	SNP	G	G	A	rs55832599		TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr17:7577139G>A	ENST00000420246.2	-	8	931	c.799C>T	c.(799-801)Cgg>Tgg	p.R267W	TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R267W|TP53_ENST00000455263.2_Missense_Mutation_p.R267W|TP53_ENST00000445888.2_Missense_Mutation_p.R267W|TP53_ENST00000359597.4_Missense_Mutation_p.R267W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	267	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation; dbSNP:rs55832599).		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.R267W(25)|p.0?(8)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.R267G(1)|p.R267R(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(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)		AAGCTGTTCCGTCCCAGTAGA	0.522000		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)			5	7					0	0	1	0	0
L1TD1	54596	broad.mit.edu	37	1	62676147	62676147	+	Silent	SNP	T	T	C			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr1:62676147T>C	ENST00000498273.1	+	4	1996	c.1701T>C	c.(1699-1701)gaT>gaC	p.D567D		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	567										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						TGAGTCATGATGAGCATAAAA	0.423000													18	42					0	0	1	0	0
ARHGEF15	22899	broad.mit.edu	37	17	8215743	8215743	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr17:8215743C>T	ENST00000361926.3	+	2	496	c.386C>T	c.(385-387)aCg>aTg	p.T129M	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.T129M	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	129	Pro-rich.				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						TCACCCTGCACGCCTCTGCTC	0.672000													53	31					0	0	1	0	0
MEPE	56955	broad.mit.edu	37	4	88766136	88766136	+	Frame_Shift_Del	DEL	A	A	-			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr4:88766136delA	ENST00000497649.2	+	6	422	c.44delA	c.(43-45)gafs	p.E15fs	MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000395102.4_Frame_Shift_Del_p.E70fs|MEPE_ENST00000424957.3_Frame_Shift_Del_p.E39fs|MEPE_ENST00000560249.1_5'UTR|MEPE_ENST00000361056.3_Frame_Shift_Del_p.E39fs|MEPE_ENST00000511670.1_Frame_Shift_Del_p.K83fs|MEPE_ENST00000540395.1_5'UTR			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	39					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		TAGCAGGAAGAAAAAAACAAA	0.259													13	23	---	---	---	---					
GSX1	219409	broad.mit.edu	37	13	28367943	28367944	+	Frame_Shift_Ins	INS	-	-	T			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr13:28367943_28367944insT	ENST00000302945.2	+	2	701_702	c.653_654insT	c.(652-654)ggcfs	p.G218fs		NM_145657.1	NP_663632.1	Q9H4S2	GSX1_HUMAN	GS homeobox 1	218	Poly-Gly.				positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		ggcggcgggggtgccggtggtg	0.629													14	26	---	---	---	---					
TCF12	6938	broad.mit.edu	37	15	57524624	57524625	+	Frame_Shift_Ins	INS	-	-	C			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr15:57524624_57524625insC	ENST00000267811.5	+	10	1125_1126	c.821_822insC	c.(820-822)cttfs	p.L274fs	TCF12_ENST00000343827.3_Frame_Shift_Ins_p.L104fs|TCF12_ENST00000557843.1_Frame_Shift_Ins_p.L274fs|TCF12_ENST00000333725.5_Frame_Shift_Ins_p.L274fs|TCF12_ENST00000543579.1_Frame_Shift_Ins_p.L104fs|TCF12_ENST00000452095.2_Frame_Shift_Ins_p.L270fs|TCF12_ENST00000438423.2_Frame_Shift_Ins_p.L274fs|TCF12_ENST00000560764.1_Intron|TCF12_ENST00000537840.1_Intron	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	274					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		TCACATGACCGCTTGGTAGGCT	0.446			T	TEC	extraskeletal myxoid chondrosarcoma								34	48	---	---	---	---					
MED1	5469	broad.mit.edu	37	17	37580057	37580059	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr17:37580057_37580059delGAG	ENST00000300651.6	-	12	1090_1092	c.867_869delCTC	c.(865-870)tca>tc	p.SS289del	MED1_ENST00000394287.3_In_Frame_Del_p.SS289del	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	289	Interaction with ESR1.|Interaction with the Mediator complex and THRA.|Interaction with the Mediator complex.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		ACTGGTGATTGAGGAGAAGGAAG	0.409										HNSCC(31;0.082)			9	44	---	---	---	---					
MYT1	4661	broad.mit.edu	37	20	62854706	62854707	+	Frame_Shift_Ins	INS	-	-	C			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr20:62854706_62854707insC	ENST00000536311.1	+	16	2967_2968	c.2603_2604insC	c.(2602-2604)gctfs	p.A868fs	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Frame_Shift_Ins_p.A841fs			Q01538	MYT1_HUMAN	myelin transcription factor 1	841					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CACTCTGCTGACCTCAAGTATG	0.550													61	133	---	---	---	---					
