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
ZFYVE26	23503	broad.mit.edu	37	14	68251787	68251787	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr14:68251787C>T	ENST00000347230.4	-	19	3650	c.3512G>A	c.(3511-3513)aGc>aAc	p.S1171N	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.S1171N	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1171					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		AGGCTCAGAGCTCAAACTTTG	0.502000													69	101					0	0	0.870114	0	0
SMOC2	64094	broad.mit.edu	37	6	168947817	168947817	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr6:168947817C>A	ENST00000354536.5	+	6	783	c.563C>A	c.(562-564)gCg>gAg	p.A188E	SMOC2_ENST00000356284.2_Missense_Mutation_p.A177E	NM_022138.2	NP_071421.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	177					signal transduction	basement membrane	calcium ion binding	p.A188G(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		GCAGCTCCAGCGTTGGAGACT	0.522000													4	148					0.00909568	0.00930721	0.150653	1	0
SLCO1B1	10599	broad.mit.edu	37	12	21329781	21329781	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr12:21329781T>C	ENST00000256958.2	+	5	527	c.431T>C	c.(430-432)aTt>aCt	p.I144T		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	144					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	ACTTGTTTAATTAATCAAATT	0.274000													39	41					0	0	0.812448	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102508452	102508452	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr14:102508452A>G	ENST00000360184.4	+	66	12369	c.12205A>G	c.(12205-12207)Att>Gtt	p.I4069V	RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4069	AAA 6 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GATCACTTCAATTGCAATCGG	0.537000													11	18					0	0	0.411799	0	0
FMN2	56776	broad.mit.edu	37	1	240371067	240371067	+	Silent	SNP	C	C	A			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr1:240371067C>A	ENST00000319653.9	+	5	3185	c.2955C>A	c.(2953-2955)ggC>ggA	p.G985G		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	985	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.G1128G(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCGGAGCGGGCATACCCCCTC	0.711000													3	13					6.4e-05	6.70476e-05	0.115264	1	0
PRPH2	5961	broad.mit.edu	37	6	42690067	42690067	+	Silent	SNP	C	C	T			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr6:42690067C>T	ENST00000230381.5	-	1	245	c.6G>A	c.(4-6)gcG>gcA	p.A2A		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	2					cell adhesion|visual perception	integral to membrane				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			CTTTCAGTAGCGCCATGCTTG	0.552000													3	44					0	0	0.115264	0	0
MAP2K3	5606	broad.mit.edu	37	17	21217496	21217496	+	Missense_Mutation	SNP	C	C	T	rs35755743		TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr17:21217496C>T	ENST00000342679.4	+	12	1247	c.998C>T	c.(997-999)aCg>aTg	p.T333M	MAP2K3_ENST00000361818.5_Missense_Mutation_p.T304M|MAP2K3_ENST00000316920.6_Missense_Mutation_p.T304M	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	333					activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		ACCAAGAAGACGGACATTGCT	0.617000													65	300					0	0	0.870114	0	0
SLIT2	9353	broad.mit.edu	37	4	20490510	20490510	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr4:20490510G>A	ENST00000504154.1	+	8	932	c.680G>A	c.(679-681)aGg>aAg	p.R227K	SLIT2_ENST00000503837.1_Missense_Mutation_p.R227K|SLIT2_ENST00000503823.1_Missense_Mutation_p.R227K|SLIT2_ENST00000273739.5_Missense_Mutation_p.R227K	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	227	LRRCT 1.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CTTCGCCAAAGGCCTCGGGTT	0.498000													31	154					0	0	0.796494	0	0
TMC6	11322	broad.mit.edu	37	17	76116777	76116777	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr17:76116777C>T	ENST00000590602.1	-	13	1831	c.1672G>A	c.(1672-1674)Gtc>Atc	p.V558I	TMC6_ENST00000392467.3_Missense_Mutation_p.V558I|TMC6_ENST00000306591.7_Intron|TMC6_ENST00000592076.1_Intron|TMC6_ENST00000322914.3_Missense_Mutation_p.V558I|TMC6_ENST00000322933.4_Intron|TMC6_ENST00000591436.1_Intron|TMC6_ENST00000589553.1_3'UTR			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	558						endoplasmic reticulum membrane|integral to membrane				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AACATGAGGACGAAGTCCATC	0.637000													29	106					0	0	0.717897	0	0
LAMA2	3908	broad.mit.edu	37	6	129419503	129419503	+	Silent	SNP	T	T	C			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr6:129419503T>C	ENST00000421865.2	+	4	631	c.582T>C	c.(580-582)gaT>gaC	p.D194D		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	194	Laminin N-terminal.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ATGCCAAAGATGATGAGGTCA	0.443000													9	60					0	0	0.307466	0	0
CEACAM5	1048	broad.mit.edu	37	19	42224879	42224879	+	Silent	SNP	G	G	A			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr19:42224879G>A	ENST00000221992.6	+	8	1923	c.1809G>A	c.(1807-1809)tcG>tcA	p.S603S	CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Silent_p.S603S|CEACAM5_ENST00000398599.4_Silent_p.S602S	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	603	Ig-like 7.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CCCCAGACTCGTCTTACCTTT	0.547000													45	63					0	0	0.847076	0	0
ITGAD	3681	broad.mit.edu	37	16	31419095	31419095	+	Silent	SNP	C	C	T			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr16:31419095C>T	ENST00000389202.2	+	9	916	c.867C>T	c.(865-867)caC>caT	p.H289H		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	289	VWFA.				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						AGGTGGGACACGCTTTCCAGG	0.617000													17	21					0	0	0.557998	0	0
ENPP2	0	broad.mit.edu	37	8	120596283	120596283	+	Silent	SNP	A	A	G			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr8:120596283A>G	ENST00000427067.2	-	16	1542	c.1362T>C	c.(1360-1362)ccT>ccC	p.P454P	ENPP2_ENST00000522826.1_Silent_p.P458P|ENPP2_ENST00000522167.1_Silent_p.P97P|ENPP2_ENST00000259486.6_Silent_p.P510P|ENPP2_ENST00000075322.6_Silent_p.P458P			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	458					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AAACATCCAAAGGTTTCCTAA	0.348000													66	61					0	0	0.870114	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995655	140995655	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chrX:140995655C>T	ENST00000285879.4	+	4	2751	c.2465C>T	c.(2464-2466)tCa>tTa	p.S822L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	822							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCCACTTCATCGAGTCTT	0.562000										HNSCC(15;0.026)			10	209					0	0	0.361761	0	0
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	T	rs121913499		TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr2:209113113G>T	ENST00000415913.1	-	4	775	c.394C>A	c.(394-396)Cgt>Agt	p.R132S	IDH1_ENST00000345146.2_Missense_Mutation_p.R132S|IDH1_ENST00000446179.1_Missense_Mutation_p.R132S			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.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(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)		TAAGCATGACGACCTATGATG	0.398000			Mis		gliobastoma								26	48					6.32553e-13	7.52225e-13	0.681144	1	0
SUZ12P	0	broad.mit.edu	37	17	29061941	29061941	+	RNA	SNP	T	T	C	rs112064181	by1000genomes	TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr17:29061941T>C	ENST00000582557.1	+	0	861																											TAGATTTCTTTGAACTCGGAA	0.303000													6	60					0	0	0.217242	0	0
CXorf23	256643	broad.mit.edu	37	X	19983583	19983583	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chrX:19983583G>T	ENST00000379687.3	-	3	886	c.853C>A	c.(853-855)Cgt>Agt	p.R285S	CXorf23_ENST00000356980.3_Missense_Mutation_p.R285S|CXorf23_ENST00000379682.4_Missense_Mutation_p.R285S	NM_198279.3	NP_938020.2	A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	285						mitochondrion				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						AGCTTAGGACGTTTGTGACGA	0.458000													36	33					1.47244e-24	1.79965e-24	0.819951	1	0
DCSTAMP	81501	broad.mit.edu	37	8	105361004	105361004	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr8:105361004C>G	ENST00000297581.2	+	2	273	c.224C>G	c.(223-225)tCc>tGc	p.S75C	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Missense_Mutation_p.S75C	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	75					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											CTGTGTTGCTCCAAGCATGCA	0.522000													3	73					0	0	0.150653	0	0
C1orf174	339448	broad.mit.edu	37	1	3809463	3809463	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr1:3809463G>A	ENST00000361605.3	-	2	211	c.113C>T	c.(112-114)gCc>gTc	p.A38V	C1orf174_ENST00000486765.1_5'UTR	NM_207356.2	NP_997239.2	Q8IYL3	CA174_HUMAN	chromosome 1 open reading frame 174	38										endometrium(1)|large_intestine(5)|lung(4)|prostate(1)	11	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;5.09e-25)|all_epithelial(116;9.35e-17)|all_lung(118;1.09e-06)|Lung NSC(185;0.000139)|all_neural(13;0.00287)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0219)|all_hematologic(16;0.027)|Colorectal(325;0.0276)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;1.55e-39)|OV - Ovarian serous cystadenocarcinoma(86;5.99e-23)|GBM - Glioblastoma multiforme(42;2.22e-17)|Colorectal(212;1.08e-05)|COAD - Colon adenocarcinoma(227;5.49e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000365)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.19)		TGCTGTCTTGGCAGACGTGGA	0.542000													3	28					0	0	0.115264	0	0
TBP	6908	broad.mit.edu	37	6	170871052	170871052	+	Silent	SNP	G	G	A	rs112083427		TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr6:170871052G>A	ENST00000392092.2	+	3	507	c.228G>A	c.(226-228)caG>caA	p.Q76Q	TBP_ENST00000540980.1_Silent_p.Q56Q|TBP_ENST00000230354.6_Silent_p.Q76Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	76	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q76Q(4)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacagcagcagcagcagc	0.572000													3	9					0	0	0.115264	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A	rs77484671		TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3455								p.E3455K(5)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423000													3	33					0	0	0.115264	0	0
DHDDS	79947	broad.mit.edu	37	1	26772898	26772898	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr1:26772898G>A	ENST00000360009.2	+	5	492	c.415G>A	c.(415-417)Gta>Ata	p.V139I	DHDDS_ENST00000374185.3_Missense_Mutation_p.V139I|DHDDS_ENST00000427245.2_Missense_Mutation_p.V139I|DHDDS_ENST00000526219.1_Intron|DHDDS_ENST00000525682.2_Missense_Mutation_p.V139I|DHDDS_ENST00000236342.7_Missense_Mutation_p.V139I	NM_024887.3|NM_205861.2	NP_079163.2|NP_995583.1	Q86SQ9	DHDDS_HUMAN	dehydrodolichyl diphosphate synthase	139							protein binding|transferase activity, transferring alkyl or aryl (other than methyl) groups			breast(5)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	15		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)		TGCACAAGCTGTACAGGCCAC	0.517000													41	79					0	0	0.864702	0	0
LPAR4	2846	broad.mit.edu	37	X	78010568	78010568	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chrX:78010568A>G	ENST00000435339.2	+	2	607	c.202A>G	c.(202-204)Atg>Gtg	p.M68V	LPAR4_ENST00000373301.2_Missense_Mutation_p.M68V	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	68						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						CTGTTTCCGCATGAAAATGAG	0.358000													49	251					0	0	0.870114	0	0
HDAC6	10013	broad.mit.edu	37	X	48682452	48682452	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chrX:48682452A>G	ENST00000334136.5	+	27	3602	c.3424A>G	c.(3424-3426)Aat>Gat	p.N1142D	HDAC6_ENST00000376619.2_Missense_Mutation_p.N1142D|HDAC6_ENST00000444343.2_Missense_Mutation_p.N1156D			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	1142					aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	AATCCAAGAGAATTGGGTGTG	0.592000													5	48					0	0	0.184627	0	0
KCNT1	57582	broad.mit.edu	37	9	138657002	138657002	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr9:138657002G>T	ENST00000298480.5	+	12	1235	c.1161G>T	c.(1159-1161)atG>atT	p.M387I	KCNT1_ENST00000490355.2_Missense_Mutation_p.M368I|KCNT1_ENST00000263604.3_Missense_Mutation_p.M368I|KCNT1_ENST00000488444.2_Missense_Mutation_p.M368I|KCNT1_ENST00000487664.1_Missense_Mutation_p.M342I|KCNT1_ENST00000486577.2_Missense_Mutation_p.M348I|KCNT1_ENST00000371757.2_Missense_Mutation_p.M387I|KCNT1_ENST00000491806.2_Missense_Mutation_p.M354I			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	387						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		ACCTTCTCATGGACTTCCTGA	0.642000													11	87					3.86212e-05	4.14471e-05	0.361761	1	0
SPATA31D5P	0	broad.mit.edu	37	9	84531597	84531597	+	RNA	SNP	T	T	C			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr9:84531597T>C	ENST00000527857.1	+	0	1619					NR_026851.1																						AACGTGGCCATTCCTCCATGT	0.468000													10	26					0	0	0.335167	0	0
CELSR1	9620	broad.mit.edu	37	22	46929726	46929726	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr22:46929726G>C	ENST00000262738.3	-	1	3341	c.3342C>G	c.(3340-3342)aaC>aaG	p.N1114K	CELSR1_ENST00000497509.1_5'UTR|CELSR1_ENST00000395964.1_Missense_Mutation_p.N1114K	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1114	Cadherin 9.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TGTTGGACTTGTTGGTGACAT	0.592000													78	91					0	0	0.870114	0	0
TUBB4B	10383	broad.mit.edu	37	9	140136180	140136180	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr9:140136180A>G	ENST00000340384.4	+	2	213	c.65A>G	c.(64-66)gAg>gGg	p.E22G		NM_006088.5	NP_006079.1	P68371	TBB2C_HUMAN	tubulin, beta 4B class IVb	22					'de novo' posttranslational protein folding|cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding|structural molecule activity|unfolded protein binding										TAGTTTTGGGAGGTGATCAGC	0.711000													8	17					0	0	0.278610	0	0
MYH4	4622	broad.mit.edu	37	17	10350460	10350460	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr17:10350460C>T	ENST00000255381.2	-	35	5149	c.5039G>A	c.(5038-5040)cGc>cAc	p.R1680H	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1680					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GTTAGCTCTGCGCTCAACCAT	0.502000													4	66					0	0	0.150653	0	0
GLUD2	2747	broad.mit.edu	37	X	120182836	120182836	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chrX:120182836G>A	ENST00000328078.1	+	1	1375	c.1298G>A	c.(1297-1299)gGa>gAa	p.G433E		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	433					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	TTGAATGCTGGAGGAGTGACA	0.418000													18	191					0	0	0.608945	0	0
TBP	6908	broad.mit.edu	37	6	170871070	170871070	+	Silent	SNP	G	G	A	rs142508797	byFrequency	TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr6:170871070G>A	ENST00000392092.2	+	3	525	c.246G>A	c.(244-246)caG>caA	p.Q82Q	TBP_ENST00000540980.1_Silent_p.Q62Q|TBP_ENST00000230354.6_Silent_p.Q82Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	82	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcagc	0.587000													3	18					0	0	0.115264	0	0
SDHAP1	0	broad.mit.edu	37	3	195701304	195701304	+	RNA	SNP	C	C	T			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr3:195701304C>T	ENST00000427841.1	-	0	1520					NR_003264.2																						AGGGCACATGCCTGACCAGAC	0.572000													5	39					0	0	0.248553	0	0
PTCD1	26024	broad.mit.edu	37	7	99026819	99026819	+	Silent	SNP	G	G	A			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr7:99026819G>A	ENST00000292478.4	-	5	1072	c.822C>T	c.(820-822)atC>atT	p.I274I	PTCD1_ENST00000555673.1_Silent_p.I323I|ATP5J2-PTCD1_ENST00000413834.1_Silent_p.I323I|PTCD1_ENST00000485746.1_5'UTR	NM_015545.3	NP_056360.2			pentatricopeptide repeat domain 1											endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			GCCCTTTGTGGATGATTTCCT	0.557000													9	89					0	0	0.387290	0	0
TP53	7157	broad.mit.edu	37	17	7574018	7574018	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr17:7574018G>A	ENST00000269305.4	-	10	1198	c.1009C>T	c.(1009-1011)Cgc>Tgc	p.R337C	TP53_ENST00000420246.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R337C|TP53_ENST00000455263.2_3'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	337	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (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.R337C(18)|p.0?(8)|p.R337fs*8(2)|p.R337G(1)|p.?(1)|p.I332fs*5(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)		ATCTCGAAGCGCTCACGCCCA	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)			17	8					0	0	0.557998	0	0
XPO6	23214	broad.mit.edu	37	16	28137080	28137080	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr16:28137080G>A	ENST00000304658.5	-	13	2196	c.1696C>T	c.(1696-1698)Cgc>Tgc	p.R566C	XPO6_ENST00000565698.1_Missense_Mutation_p.R552C	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	566					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						TCGGCCAGGCGGCCCACGGCC	0.582000													29	111					0	0	0.729181	0	0
TNFAIP3	7128	broad.mit.edu	37	6	138199814	138199814	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr6:138199814G>A	ENST00000237289.4	+	7	1298	c.1232G>A	c.(1231-1233)cGg>cAg	p.R411Q		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	411	Interaction with NAF1 (By similarity).				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(25)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		TCAGAGAGGCGGCAAAAGAAT	0.557000			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""								6	76					0	0	0.248553	0	0
DDX55	57696	broad.mit.edu	37	12	124101060	124101060	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr12:124101060G>T	ENST00000238146.4	+	10	1009	c.959G>T	c.(958-960)gGg>gTg	p.G320V	DDX55_ENST00000538744.1_Intron|DDX55_ENST00000541259.1_3'UTR	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	320	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		TTTCCTAGTGGGATTTTAGTG	0.473000													4	67					5.9392e-07	6.53312e-07	0.217242	1	0
NBPF10	100132406	broad.mit.edu	37	1	145293269	145293269	+	Splice_Site	SNP	G	G	A	rs61350760	by1000genomes	TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr1:145293269G>A	ENST00000369338.1	+	1	155		c.e1+1		NBPF10_ENST00000369339.2_Intron|RP11-458D21.5_ENST00000468030.1_Splice_Site			A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10											NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TTTCACAACAGTAAGTTAAGA	0.423000													4	57					0	0	0.150653	0	0
ESCO2	157570	broad.mit.edu	37	8	27634263	27634266	+	Frame_Shift_Del	DEL	TAAG	TAAG	-			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr8:27634263_27634266delTAAG	ENST00000305188.8	+	3	676_679	c.438_441delTAAG	c.(436-441)gcfs	p.AK146fs	ESCO2_ENST00000523910.1_3'UTR|ESCO2_ENST00000397418.2_5'UTR	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	146					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		GTTTAACTGCTAAGTATCAACCAA	0.353									SC Phocomelia syndrome				23	39	---	---	---	---					
LA16c-23H5.4	0	broad.mit.edu	37	22	16419352	16419352	+	RNA	DEL	T	T	-			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr22:16419352delT	ENST00000444162.1	+	0	279																											GAATCGACGATTTTTTTTTTG	0.398													6	7	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76939673	76939674	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chrX:76939673_76939674insT	ENST00000373344.5	-	9	1288_1289	c.1074_1075insA	c.(1072-1077)aatgatfs	p.ND358fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.ND320fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	358					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)	GTCTCAATCAGTTTTTTTGCCT	0.366			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						52	95	---	---	---	---