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
C1QTNF1	114897	broad.mit.edu	37	17	77042695	77042695	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr17:77042695C>T	ENST00000339142.2	+	4	769	c.214C>T	c.(214-216)Cgg>Tgg	p.R72W	C1QTNF1_ENST00000311661.4_5'UTR|C1QTNF1_ENST00000583904.1_Missense_Mutation_p.R72W|C1QTNF1_ENST00000581774.1_Missense_Mutation_p.R72W|C1QTNF1_ENST00000580454.1_Missense_Mutation_p.R72W|C1QTNF1_ENST00000580474.1_Missense_Mutation_p.R72W|C1QTNF1_ENST00000579760.1_Missense_Mutation_p.R72W|C1QTNF1_ENST00000578229.1_5'UTR|C1QTNF1_ENST00000392445.2_Missense_Mutation_p.R72W|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.R82W	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	72						collagen				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			CCCTGCTTCCCGGTGCTTGCG	0.552000											OREG0024791	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	70					0	0	1	0	0
RP11-69H14.6	0	broad.mit.edu	37	15	22332492	22332492	+	RNA	SNP	A	A	C			TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr15:22332492A>C	ENST00000558896.1	+	0	299																											TATTTCTCTTATTACTATTTT	0.383000													4	172					0	0	1	0	0
BCOR	54880	broad.mit.edu	37	X	39933591	39933591	+	Silent	SNP	C	C	T			TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chrX:39933591C>T	ENST00000342274.4	-	4	1370	c.1008G>A	c.(1006-1008)tcG>tcA	p.S336S	BCOR_ENST00000378455.4_Silent_p.S336S|BCOR_ENST00000378444.4_Silent_p.S336S|BCOR_ENST00000397354.3_Silent_p.S336S	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	336					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						ACGGCCGAGGCGAGGGGGGCA	0.632000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						3	26					0	0	1	0	0
OBP2A	29991	broad.mit.edu	37	9	138441168	138441168	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr9:138441168G>A	ENST00000539850.1	+	6	531	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K	OBP2A_ENST00000371776.1_Missense_Mutation_p.E169K|OBP2A_ENST00000340780.3_Silent_p.S190S|OBP2A_ENST00000342114.4_Missense_Mutation_p.E146K			Q9NY56	OBP2A_HUMAN	odorant binding protein 2A	169					response to stimulus|sensory perception of smell	extracellular region	odorant binding|transporter activity			endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		CTGCGTTCTCGAACACTAGGG	0.612000													11	51					0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68177463	68177463	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr11:68177463G>A	ENST00000294304.7	+	10	2279	c.2173G>A	c.(2173-2175)Gtt>Att	p.V725I		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	725	Beta-propeller 3.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGGCATGGCCGTTGACTGGAT	0.632000													3	62					0	0	1	0	0
TUBB8P7	0	broad.mit.edu	37	16	90161618	90161618	+	RNA	SNP	C	C	T	rs13338202	by1000genomes	TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr16:90161618C>T	ENST00000564451.1	+	0	971				TUBB8P7_ENST00000567960.1_RNA														p.D118D(2)									CAGTGATGGACGTTGTCAGAA	0.607000													4	23					0	0	1	0	0
TSPAN8	7103	broad.mit.edu	37	12	71531789	71531789	+	Missense_Mutation	SNP	C	C	T	rs148575105		TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr12:71531789C>T	ENST00000393330.2	-	9	940	c.388G>A	c.(388-390)Gcc>Acc	p.A130T	TSPAN8_ENST00000552128.1_Missense_Mutation_p.A47T|TSPAN8_ENST00000546561.1_Missense_Mutation_p.A130T|TSPAN8_ENST00000247829.3_Missense_Mutation_p.A130T			P19075	TSN8_HUMAN	tetraspanin 8	130					protein glycosylation	integral to membrane|lysosome	signal transducer activity			breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			TCCCCTGTGGCGCTCAAAAGC	0.343000													36	53					0	0	1	0	0
SPPL3	121665	broad.mit.edu	37	12	121221497	121221497	+	Silent	SNP	T	T	C			TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr12:121221497T>C	ENST00000353487.2	-	5	872	c.369A>G	c.(367-369)agA>agG	p.R123R		NM_139015.4	NP_620584.2	Q8TCT6	PSL4_HUMAN	signal peptide peptidase like 3	124						integral to membrane	aspartic-type endopeptidase activity					all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GTGAGCAGGGTCTTGTTAAAT	0.323000													8	27					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	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								15	25					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)		GCACAAACACGCACCTCAAAG	0.542000	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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	5					0	0	1	0	0
POLB	5423	broad.mit.edu	37	8	42214719	42214719	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr8:42214719G>A	ENST00000265421.4	+	8	625	c.455G>A	c.(454-456)cGt>cAt	p.R152H	POLB_ENST00000538005.1_5'UTR	NM_002690.2	NP_002681.1	P06746	DPOLB_HUMAN	polymerase (DNA directed), beta	152					DNA-dependent DNA replication	cytoplasm|nucleoplasm|spindle microtubule	DNA-(apurinic or apyrimidinic site) lyase activity|DNA-directed DNA polymerase activity|enzyme binding|metal ion binding|microtubule binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	16	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		Cytarabine(DB00987)	AGAATTCCTCGTGAAGAGATG	0.299000								DNA polymerases (catalytic subunits)					18	26					0	0	1	0	0
WASH3P	0	broad.mit.edu	37	15	102515298	102515298	+	RNA	SNP	C	C	T			TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr15:102515298C>T	ENST00000557932.1	+	0	1144																		p.I373I(1)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						CTGGGGGCATCGGCAAGGCCA	0.652000													4	17					0	0	1	0	0
IL22RA1	58985	broad.mit.edu	37	1	24447579	24447579	+	Silent	SNP	G	G	A			TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr1:24447579G>A	ENST00000270800.1	-	7	1479	c.1441C>T	c.(1441-1443)Cta>Tta	p.L481L		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	481						integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		CCACTGTGTAGCACATTTGGG	0.567000													25	50					0	0	1	0	0
ELMSAN1	91748	broad.mit.edu	37	14	74196470	74196470	+	Silent	SNP	C	C	T	rs149124754		TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr14:74196470C>T	ENST00000286523.5	-	4	2750	c.1968G>A	c.(1966-1968)ccG>ccA	p.P656P	ELMSAN1_ENST00000394071.2_Silent_p.P656P	NM_194278.3	NP_919254.2			ELM2 and Myb/SANT-like domain containing 1									p.P656P(1)									GGATGGGGGGCGGCGTGTAGG	0.612000													4	31					0	0	1	0	0
NT5DC2	64943	broad.mit.edu	37	3	52563192	52563192	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr3:52563192G>A	ENST00000307076.4	-	2	680	c.280C>T	c.(280-282)Cgt>Tgt	p.R94C	NT5DC2_ENST00000307092.4_Missense_Mutation_p.R60C|NT5DC2_ENST00000422318.2_Missense_Mutation_p.R131C|NT5DC2_ENST00000490681.1_5'UTR|NT5DC2_ENST00000459839.1_Missense_Mutation_p.R131C	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	94							hydrolase activity|metal ion binding			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		AGGATGTCACGGGCGGTACTG	0.597000													8	24					0	0	1	0	0
TTC37	9652	broad.mit.edu	37	5	94834107	94834107	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr5:94834107G>A	ENST00000358746.2	-	33	3828	c.3530C>T	c.(3529-3531)gCt>gTt	p.A1177V		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1177							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TTTTTGCACAGCCACACTGCG	0.393000													13	107					0	0	1	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128685	45128685	+	RNA	SNP	T	T	C	rs145089594	by1000genomes	TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr17:45128685T>C	ENST00000575173.1	-	0	418																											TTCCAGGATATGGCTATACTG	0.303000													4	97					0	0	1	0	0
AVL9	23080	broad.mit.edu	37	7	32582854	32582854	+	Silent	SNP	C	C	T			TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr7:32582854C>T	ENST00000318709.4	+	2	416	c.195C>T	c.(193-195)ggC>ggT	p.G65G	AVL9_ENST00000404479.1_Silent_p.G65G|AVL9_ENST00000409301.1_Silent_p.G65G	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	65						integral to membrane		p.G65G(2)		endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TACCAGATGGCGCACACAACT	0.423000													4	110					0	0	1	0	0
JPH2	57158	broad.mit.edu	37	20	42788536	42788536	+	Silent	SNP	G	G	A			TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr20:42788536G>A	ENST00000372980.3	-	2	1763	c.891C>T	c.(889-891)aaC>aaT	p.N297N		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	297					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			AGCGTTTGTCGTTCTTCCACT	0.687000													5	10					0	0	1	0	0
PADI6	353238	broad.mit.edu	37	1	17721722	17721723	+	RNA	DEL	GA	GA	-	rs58784721		TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr1:17721722_17721723delGA	ENST00000434762.2	+	0	1545							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	tttgttttttgagagtcttgct	0.485													3	3	---	---	---	---					
UNC5D	137970	broad.mit.edu	37	8	35563469	35563469	+	Frame_Shift_Del	DEL	A	A	-			TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr8:35563469delA	ENST00000287272.2	+	7	959	c.939delA	c.(937-939)atfs	p.I313fs	UNC5D_ENST00000416672.1_Frame_Shift_Del_p.I369fs|UNC5D_ENST00000453357.2_Frame_Shift_Del_p.I364fs|UNC5D_ENST00000420357.1_Intron|UNC5D_ENST00000404895.2_Frame_Shift_Del_p.I369fs			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	369	TSP type-1 2.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TTCATGAAATAAAACCCCAAA	0.289													2	4	---	---	---	---					
KDM6B	23135	broad.mit.edu	37	17	7750178	7750183	+	In_Frame_Del	DEL	ACCACC	ACCACC	-			TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr17:7750178_7750183delACCACC	ENST00000254846.5	+	9	1142_1147	c.753_758delACCACC	c.(751-759)tta>tt	p.LPP251del	KDM6B_ENST00000448097.2_In_Frame_Del_p.LPP251del	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	251	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						caccaccattaccaccaccaccacca	0.607													8	11	---	---	---	---					
HELZ2	85441	broad.mit.edu	37	20	62193251	62193251	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr20:62193251delG	ENST00000467148.1	-	11	6685	c.6616delC	c.(6616-6618)gtfs	p.R2206fs	HELZ2_ENST00000427522.2_Frame_Shift_Del_p.R1637fs	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		TTCTCCCCACGGGGGGGGCCT	0.647													2	4	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76938114	76938114	+	Frame_Shift_Del	DEL	A	A	-			TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chrX:76938114delA	ENST00000373344.5	-	9	2848	c.2634delT	c.(2632-2634)gafs	p.D878fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.D840fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	878					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)	TTCTTTCAGCATCATCAGATG	0.388			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						149	191	---	---	---	---