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
KCNU1	157855	broad.mit.edu	37	8	36721928	36721928	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr8:36721928C>A	ENST00000399881.3	+	19	1935	c.1898C>A	c.(1897-1899)tCg>tAg	p.S633*		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	633						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GCAGTGCCATCGGTAAAGAGA	0.448000													4	68					0.00909568	0.00947467	1	1	0
IGLV5-45	0	broad.mit.edu	37	22	22730646	22730646	+	RNA	SNP	C	C	G			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr22:22730646C>G	ENST00000390296.2	+	0	169																											GCAGTGGCATCAATGTTGGTA	0.552000													4	102					0	0	1	0	0
PAPOLA	10914	broad.mit.edu	37	14	97031339	97031339	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr14:97031339T>G	ENST00000216277.8	+	22	2410	c.2190T>G	c.(2188-2190)aaT>aaG	p.N730K	PAPOLA_ENST00000392990.2_Missense_Mutation_p.N709K	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	730	Required for interaction with NUDT21.				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		TCCCTGCAAATCCTATTCCTG	0.373000													28	60					0	0	1	0	0
HBZ	3050	broad.mit.edu	37	16	202926	202926	+	Silent	SNP	T	T	C			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr16:202926T>C	ENST00000252951.2	+	1	241	c.18T>C	c.(16-18)acT>acC	p.T6T		NM_005332.2	NP_005323.1	P02008	HBAZ_HUMAN	hemoglobin, zeta	6						hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity						all_cancers(16;4.28e-07)|all_epithelial(16;2.09e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				TGACCAAGACTGAGAGGACCA	0.612000											OREG0003684	type=REGULATORY REGION|Gene=HBZ|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	20	39					0	0	1	0	0
SENP3	26168	broad.mit.edu	37	17	7474041	7474041	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr17:7474041C>T	ENST00000321337.7	+	10	1839	c.1519C>T	c.(1519-1521)Cga>Tga	p.R507*	SENP3_ENST00000429205.2_Nonsense_Mutation_p.R508*|SENP3-EIF4A1_ENST00000579777.1_RNA|SENP3_ENST00000578868.1_3'UTR	NM_015670.5	NP_056485.2	Q9H4L4	SENP3_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 3	508	Protease.				proteolysis	MLL1 complex|nucleolus	cysteine-type peptidase activity			central_nervous_system(1)|ovary(1)	2		Prostate(122;0.157)				AAAGAAAGACCGACTGGATTT	0.473000													6	17					0	0	1	0	0
ASTE1	28990	broad.mit.edu	37	3	130732931	130732931	+	Silent	SNP	C	C	T			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr3:130732931C>T	ENST00000264992.3	-	6	2451	c.2010G>A	c.(2008-2010)gaG>gaA	p.E670E	ATP2C1_ENST00000422190.2_Intron|ATP2C1_ENST00000504381.1_Intron|ATP2C1_ENST00000533801.2_Intron|ATP2C1_ENST00000513801.1_Intron|ATP2C1_ENST00000393221.4_Intron|ATP2C1_ENST00000359644.3_Intron|ATP2C1_ENST00000328560.8_Intron|ATP2C1_ENST00000507488.2_Intron|ASTE1_ENST00000514044.1_Silent_p.E695E	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	670					DNA repair		nuclease activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						CACTATGTTCCTCTAAGTTTT	0.393000													12	57					0	0	1	0	0
GPR124	25960	broad.mit.edu	37	8	37698691	37698691	+	Silent	SNP	C	C	T			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr8:37698691C>T	ENST00000315215.7	+	16	2547	c.2184C>T	c.(2182-2184)tgC>tgT	p.C728C	GPR124_ENST00000412232.2_Silent_p.C945C			Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	945	GPS.				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			ATTTCCTGTGCGCCGGGCTAC	0.627000													10	84					0	0	1	0	0
BCOR	54880	broad.mit.edu	37	X	39931690	39931690	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chrX:39931690G>A	ENST00000342274.4	-	4	3271	c.2909C>T	c.(2908-2910)gCg>gTg	p.A970V	BCOR_ENST00000378444.4_Missense_Mutation_p.A970V|BCOR_ENST00000397354.3_Missense_Mutation_p.A970V|BCOR_ENST00000378455.4_Missense_Mutation_p.A970V	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	970					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CACGTAACCCGCTGAGTTGGC	0.527000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						4	24					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_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								25	60					0	0	1	0	0
STAG2	10735	broad.mit.edu	37	X	123196967	123196967	+	Splice_Site	SNP	A	A	T			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chrX:123196967A>T	ENST00000371160.1	+	19	2023	c.1731_splice	c.e19-1	p.Y578_splice	STAG2_ENST00000371145.3_Splice_Site_p.Y578_splice|STAG2_ENST00000371144.3_Splice_Site_p.Y578_splice|STAG2_ENST00000218089.9_Splice_Site_p.Y578_splice|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371157.3_Splice_Site_p.Y578_splice|STAG2_ENST00000354548.5_Splice_Site_p.Y509_splice			Q8N3U4	STAG2_HUMAN	stromal antigen 2	578					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						ATTTCACAGTACTCTGTAGAT	0.313000													8	19					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328	byFrequency	TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642000													6	98					0	0	1	0	0
LAMC1	3915	broad.mit.edu	37	1	183087214	183087214	+	Silent	SNP	T	T	C			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr1:183087214T>C	ENST00000258341.4	+	11	2180	c.1923T>C	c.(1921-1923)ccT>ccC	p.P641P		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	641	Laminin IV type A.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	p.P641P(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTCTTACCCCTTTTGAATTTC	0.418000													3	53					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578507	7578507	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr17:7578507G>C	ENST00000420246.2	-	5	555	c.423C>G	c.(421-423)tgC>tgG	p.C141W	TP53_ENST00000359597.4_Missense_Mutation_p.C141W|TP53_ENST00000413465.2_Missense_Mutation_p.C141W|TP53_ENST00000445888.2_Missense_Mutation_p.C141W|TP53_ENST00000269305.4_Missense_Mutation_p.C141W|TP53_ENST00000455263.2_Missense_Mutation_p.C141W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	141	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> A (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and 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.C141W(13)|p.C141*(11)|p.0?(8)|p.A138_P142delAKTCP(4)|p.C141C(4)|p.N131fs*27(2)|p.P142fs*7(1)|p.L137_W146del10(1)|p.C141A(1)|p.C9W(1)|p.A6_P10delAKTCP(1)|p.K139fs*4(1)|p.A45_P49delAKTCP(1)|p.T140fs*28(1)|p.A138_V143delAKTCPV(1)|p.C141fs*5(1)|p.P142del(1)|p.C48W(1)|p.C141_P142insXX(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)		GCTGCACAGGGCAGGTCTTGG	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)			24	26					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62813869	62813869	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr4:62813869C>T	ENST00000512091.1	+	16	3223	c.2476C>T	c.(2476-2478)Cgt>Tgt	p.R826C	LPHN3_ENST00000514591.1_Missense_Mutation_p.R826C|LPHN3_ENST00000514157.1_Missense_Mutation_p.R826C|LPHN3_ENST00000507625.1_Missense_Mutation_p.R894C|LPHN3_ENST00000507164.1_Missense_Mutation_p.R894C|LPHN3_ENST00000504896.1_Missense_Mutation_p.R826C|LPHN3_ENST00000508693.1_Missense_Mutation_p.R894C|LPHN3_ENST00000514996.1_Missense_Mutation_p.R826C|LPHN3_ENST00000508946.1_Missense_Mutation_p.R826C|LPHN3_ENST00000506746.1_Missense_Mutation_p.R894C|LPHN3_ENST00000511324.1_Missense_Mutation_p.R894C|LPHN3_ENST00000506700.1_Missense_Mutation_p.R826C|LPHN3_ENST00000545650.1_Missense_Mutation_p.R826C|LPHN3_ENST00000509896.1_Missense_Mutation_p.R894C|LPHN3_ENST00000506720.1_Missense_Mutation_p.R894C			Q9HAR2	LPHN3_HUMAN	latrophilin 3	813	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CTACTCCAAGCGTACAATGAC	0.388000													5	20					0	0	1	0	0
ABCG5	64240	broad.mit.edu	37	2	44047075	44047075	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr2:44047075A>G	ENST00000543989.1	-	7	2148	c.443T>C	c.(442-444)cTt>cCt	p.L148P	ABCG5_ENST00000405322.1_Missense_Mutation_p.L372P|ABCG5_ENST00000260645.1_Missense_Mutation_p.L543P			Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	543	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AGATCCAACAAGCACCCCCGC	0.368000													18	89					0	0	1	0	0
TRIP12	9320	broad.mit.edu	37	2	230668911	230668911	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr2:230668911G>A	ENST00000283943.5	-	18	2636	c.2458C>T	c.(2458-2460)Cga>Tga	p.R820*	TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389044.4_Nonsense_Mutation_p.R868*|TRIP12_ENST00000389045.3_Nonsense_Mutation_p.R550*	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	820	WWE.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		AGCTGTGCTCGAGCATCATCC	0.363000													28	51					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76890083	76890083	+	Splice_Site	SNP	A	A	C			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chrX:76890083A>C	ENST00000373344.5	-	17	5024		c.e17+1		ATRX_ENST00000480283.1_Splice_Site|ATRX_ENST00000395603.3_Splice_Site	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						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)	TTCAGCTCTTACCTGTAAAGT	0.398000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						31	65					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169519050	169519050	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr1:169519050G>A	ENST00000367796.3	-	10	1801	c.1600C>T	c.(1600-1602)Caa>Taa	p.Q534*	F5_ENST00000367797.3_Nonsense_Mutation_p.Q534*|F5_ENST00000546081.1_3'UTR			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	534	F5/8 type A 2.	Cleavage; by activated protein C.	R -> Q (in Leiden; associated with THR- APCR; associated with susceptibility to Budd-Chiari syndrome; associated with susceptibility to ischemic stroke; dbSNP:rs6025).		cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TGTATTCCTTGCCTGTCCAGG	0.428000													4	35					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577593	7577593	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr17:7577593T>G	ENST00000420246.2	-	7	820	c.688A>C	c.(688-690)Acc>Ccc	p.T230P	TP53_ENST00000359597.4_Missense_Mutation_p.T230P|TP53_ENST00000413465.2_Missense_Mutation_p.T230P|TP53_ENST00000445888.2_Missense_Mutation_p.T230P|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.T230P|TP53_ENST00000455263.2_Missense_Mutation_p.T230P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	230	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> N (in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation).|T -> S (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.?(5)|p.T230P(2)|p.T230fs*6(2)|p.T230S(2)|p.C229_H233delCTTIH(2)|p.T230fs*17(2)|p.T230fs*9(1)|p.T230_Y234delTTIHY(1)|p.C229_T230insX(1)|p.V225fs*23(1)|p.D228fs*12(1)|p.C229_I232del(1)|p.S227_I232delSDCTTI(1)|p.T230A(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)		TGGATGGTGGTACAGTCAGAG	0.532000		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)			17	47					0	0	1	0	0
KRT27	342574	broad.mit.edu	37	17	38936093	38936093	+	Silent	SNP	G	G	A			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr17:38936093G>A	ENST00000301656.3	-	4	745	c.705C>T	c.(703-705)tgC>tgT	p.C235C		NM_181537.3	NP_853515.2	Q7Z3Y8	K1C27_HUMAN	keratin 27	235	Linker 12.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				CTCCAGCCGCGCACTGAAGAG	0.483000													10	35					0	0	1	0	0
CPS1	1373	broad.mit.edu	37	2	211454894	211454894	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr2:211454894delT	ENST00000233072.5	+	8	972	c.776delT	c.(775-777)atfs	p.I259fs	CPS1_ENST00000430249.2_Frame_Shift_Del_p.I265fs	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	259	Glutamine amidotransferase type-1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TATGATGGGATTTTGATCGCG	0.448													15	361	---	---	---	---					
MAP3K4	4216	broad.mit.edu	37	6	161413044	161413045	+	In_Frame_Ins	INS	-	-	CCG			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr6:161413044_161413045insCCG	ENST00000392142.4	+	1	229_230	c.81_82insCCG	c.(79-84)cccgcc>ccCCGcgcc	p.27_28PA>PRA	MAP3K4_ENST00000366919.2_In_Frame_Ins_p.27_28PA>PRA|MAP3K4_ENST00000366920.2_In_Frame_Ins_p.27_28PA>PRA|MAP3K4_ENST00000348824.7_In_Frame_Ins_p.27_28PA>PRA	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	27	Poly-Pro.				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		Agccgccgccaccgccgccgcc	0.738													3	3	---	---	---	---					
AC007255.7	0	broad.mit.edu	37	7	29720482	29720483	+	RNA	INS	-	-	G	rs70980562		TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr7:29720482_29720483insG	ENST00000426767.1	-	0	366					NR_024278.1																						CTCTCAGATCAGTGATGCCCTG	0.485													3	6	---	---	---	---					
SLC12A1	6557	broad.mit.edu	37	15	48580649	48580649	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr15:48580649delA	ENST00000396577.3	+	23	3024	c.2809delA	c.(2809-2811)aafs	p.K937fs	SLC12A1_ENST00000558405.1_Frame_Shift_Del_p.K937fs|SLC12A1_ENST00000380993.3_Frame_Shift_Del_p.K937fs	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	937					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	AAAAAAATGGAAAGACTGTAA	0.328													2	4	---	---	---	---					
