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
TP53	7157	broad.mit.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr17:7578394T>C	uc002gim.2	-	4	730	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_uc002gig.1_Missense_Mutation_p.H179R|TP53_uc002gih.3_Missense_Mutation_p.H179R|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.H47R|TP53_uc010cnf.1_Missense_Mutation_p.H47R|TP53_uc002gii.1_Missense_Mutation_p.H47R|TP53_uc010cni.1_Missense_Mutation_p.H179R|TP53_uc010cnh.1_Missense_Mutation_p.H179R|TP53_uc002gij.2_Missense_Mutation_p.H179R|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.H86R|TP53_uc002gio.2_Missense_Mutation_p.H47R|TP53_uc010vug.2_Missense_Mutation_p.H140R	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H179R(214)|p.H179Y(90)|p.H179L(78)|p.H179Q(19)|p.P177_C182delPHHERC(16)|p.H178fs*69(15)|p.H179N(14)|p.H179D(11)|p.H178Y(8)|p.0?(8)|p.C176_R181delCPHHER(6)|p.H179P(6)|p.H178fs*3(6)|p.H178P(6)|p.R175_E180delRCPHHE(6)|p.H178Q(5)|p.H178D(5)|p.H178_S183delHHERCS(4)|p.H47L(4)|p.H86L(4)|p.H179fs*68(3)|p.R174fs*24(3)|p.H178N(3)|p.P177_H179delPHH(2)|p.V172_E180delVVRRCPHHE(2)|p.R174_H179delRRCPHH(2)|p.H179H(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.E171_H179delEVVRRCPHH(2)|p.R174_E180>K(2)|p.H86R(2)|p.H178fs*6(2)|p.P177_E180delPHHE(2)|p.H47R(2)|p.R174fs*1(2)|p.H178H(2)|p.K164_P219del(1)|p.C176fs*65(1)|p.H179fs*?(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.H179del(1)|p.H178L(1)|p.R175_H178>X(1)|p.P177_C182del(1)|p.R81fs*24(1)|p.H178del(1)|p.H46_S51delHHERCS(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.H178_H179>QY(1)|p.E171fs*61(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)		GCAGCGCTCATGGTGGGGGCA	0.642000		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)			54	11					0	0	1	0	0
LOC220729	220729	broad.mit.edu	37	3	197348634	197348634	+	RNA	SNP	G	G	C			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr3:197348634G>C	uc011bug.2	-	3		c.457C>G			LOC220729_uc003fxy.3_Non-coding_Transcript|LOC220729_uc010iao.2_Intron					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein (Fp) pseudogene (LOC220729), non-coding RNA.																		CAGCAGCACCGATGGGCCTGC	0.542000													5	102					0	0	1	0	0
DDX51	317781	broad.mit.edu	37	12	132624720	132624720	+	Silent	SNP	C	C	T			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr12:132624720C>T	uc001ujy.4	-	11	1737	c.1698G>A	c.(1696-1698)gcG>gcA	p.A566A		NM_175066	NP_778236	Q8N8A6	DDX51_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 51 (DDX51), mRNA.	566	Helicase C-terminal.				rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		CGATGCCTCGCGCGGTGGCGT	0.711000													34	62					0	0	1	0	0
ZNF704	619279	broad.mit.edu	37	8	81577128	81577128	+	Silent	SNP	C	C	T			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr8:81577128C>T	uc003yby.2	-	5	1081	c.849G>A	c.(847-849)acG>acA	p.T283T		NM_001033723	NP_001028895	Q6ZNC4	ZN704_HUMAN	Homo sapiens zinc finger protein 704 (ZNF704), mRNA.	283						intracellular	zinc ion binding	p.T283T(2)		lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			ACTTAGTCTCCGTTTTGGCAC	0.577000													52	80					0	0	1	0	0
GOLGA6L10	647042	broad.mit.edu	37	15	83014106	83014106	+	Silent	SNP	T	T	C			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr15:83014106T>C	uc021ssz.1	-	5	577	c.441A>G	c.(439-441)gtA>gtG	p.V147V	LOC440295_uc002bhl.2_Intron|GOLGA6L9_uc021ssr.1_Intron|LOC440295_uc002bhm.2_Intron|GOLGA6L10_uc021sta.1_Non-coding_Transcript			A6NI86	GG6LA_HUMAN	Homo sapiens golgin A6 family-like 10 (GOLGA6L10), mRNA.	159								p.V159V(12)		endometrium(1)|kidney(4)	5						GTAGCTGCTCTACCTTAGATG	0.498000													3	9					0	0	1	0	0
KRT20	54474	broad.mit.edu	37	17	39041356	39041356	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr17:39041356G>A	uc002hvl.3	-	0	140	c.82C>T	c.(82-84)Cgc>Tgc	p.R28C		NM_019010	NP_061883	P35900	K1C20_HUMAN	Homo sapiens keratin 20 (KRT20), mRNA.	28	Head.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				GTCCCGAGGCGCTGCATGCCC	0.597000													25	33					0	0	1	0	0
SEMA4B	10509	broad.mit.edu	37	15	90768923	90768923	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr15:90768923G>A	uc002boy.3	+	12	1835	c.1552G>A	c.(1552-1554)Gta>Ata	p.V518I	SEMA4B_uc002boz.3_Missense_Mutation_p.V518I|SEMA4B_uc010uqd.2_Missense_Mutation_p.V356I|SEMA4B_uc002bpa.3_Missense_Mutation_p.V356I	NM_020210	NP_945119			Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B (SEMA4B), transcript variant 1, mRNA.											NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			ACACTCGGGCGTAGTCCAGGT	0.672000													4	5					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								28	41					0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	48098921	48098921	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr20:48098921C>T	uc002xur.1	-	0	263	c.97G>A	c.(97-99)Gtc>Atc	p.V33I	KCNB1_uc002xus.1_Missense_Mutation_p.V33I	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	33					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TTGAGGCGGACCCGCCGAGAG	0.716000													2	0					0	0	1	0	0
PLCB2	5330	broad.mit.edu	37	15	40587142	40587142	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr15:40587142G>A	uc001zld.3	-	17	2202	c.1901C>T	c.(1900-1902)aCg>aTg	p.T634M	PLCB2_uc010bbo.3_Missense_Mutation_p.T630M|PLCB2_uc010ucm.2_Missense_Mutation_p.T634M	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA.	634	PI-PLC Y-box.				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		CTCACCCATCGTCTGGAAGTT	0.582000													37	54					0	0	1	0	0
AHRR	57491	broad.mit.edu	37	5	423984	423984	+	Silent	SNP	C	C	G			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr5:423984C>G	uc003jav.3	+	6	655	c.612C>G	c.(610-612)ctC>ctG	p.L204L	AHRR_uc003jaw.3_Silent_p.L204L|AHRR_uc010isy.3_Silent_p.L50L|AHRR_uc010isz.3_Silent_p.L200L|AHRR_uc003jax.3_5'UTR|AHRR_uc003jay.3_Silent_p.L60L	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	Homo sapiens aryl-hydrocarbon receptor repressor (AHRR), transcript variant 1, mRNA.	204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			GGAGGCTGCTCAGGGCCCAGG	0.652000													46	47					0	0	1	0	0
KIAA1009	22832	broad.mit.edu	37	6	84896080	84896080	+	Silent	SNP	T	T	C			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr6:84896080T>C	uc010kbp.3	-	11	1468	c.1371A>G	c.(1369-1371)tcA>tcG	p.S457S	KIAA1009_uc003pkj.4_Silent_p.S381S|KIAA1009_uc003pkk.2_Silent_p.S457S|KIAA1009_uc003pki.4_5'UTR	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	Homo sapiens KIAA1009 (KIAA1009), mRNA.	457					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		GAGATAATGATGAAGAATTAA	0.279000													18	34					0	0	1	0	0
OR13A1	79290	broad.mit.edu	37	10	45799361	45799361	+	Silent	SNP	G	G	A			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr10:45799361G>A	uc001jcc.1	-	3	819	c.510C>T	c.(508-510)tgC>tgT	p.C170C	OR13A1_uc001jcd.1_Silent_p.C166C|OR13A1_uc021ppq.1_Silent_p.C170C	NM_001004297	NP_001004297	Q8NGR1	O13A1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily A, member 1 (OR13A1), mRNA.	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						TGTTGACGGCGCAGAGCAGCC	0.607000													35	52					0	0	1	0	0
TPP2	7174	broad.mit.edu	37	13	103328687	103328687	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr13:103328687G>A	uc001vpi.4	+	27	3685	c.3582G>A	c.(3580-3582)atG>atA	p.M1194I		NM_003291	NP_003282	P29144	TPP2_HUMAN	Homo sapiens tripeptidyl peptidase II (TPP2), mRNA.	1194					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TAAATAAAATGTATGGGAGAG	0.264000													4	26					0	0	1	0	0
LOC100286793	100286793	broad.mit.edu	37	1	143744418	143744418	+	RNA	SNP	C	C	T	rs71661951		TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr1:143744418C>T	uc001ejp.3	-	0		c.170G>A			LOC100286793_uc001ejr.4_Non-coding_Transcript|LOC100286793_uc009whx.2_Non-coding_Transcript|LOC100286793_uc009why.2_Non-coding_Transcript					Homo sapiens uncharacterized LOC100286793 (LOC100286793), non-coding RNA.																		CAAGTGGTTTCGGAAGTGATC	0.567000													4	20					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176734861	176734861	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr1:176734861C>T	uc001gkz.3	+	14	5375	c.4211C>T	c.(4210-4212)gCt>gTt	p.A1404V	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1404	Sushi 1.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTTGATCATGCTGATGTGGTG	0.507000													17	116					0	0	1	0	0
ETV5	2119	broad.mit.edu	37	3	185769871	185769871	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr3:185769871T>C	uc003fpy.3	-	11	1450	c.1385A>G	c.(1384-1386)gAc>gGc	p.D462G	ETV5_uc003fpz.3_Missense_Mutation_p.D420G	NM_004454	NP_004445	P41161	ETV5_HUMAN	Homo sapiens ets variant 5 (ETV5), mRNA.	420					cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			GCTCAGCTTGTCATAGTTCAT	0.522000			T	"""TMPRSS2, SCL45A3"""	Prostate								13	110					0	0	1	0	0
ZADH2	284273	broad.mit.edu	37	18	72913406	72913406	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr18:72913406C>T	uc002llx.3	-	1	1367	c.1099G>A	c.(1099-1101)Gtt>Att	p.V367I	ZADH2_uc010dqv.3_Missense_Mutation_p.V244I	NM_175907	NP_787103	Q8N4Q0	ZADH2_HUMAN	Homo sapiens zinc binding alcohol dehydrogenase domain containing 2 (ZADH2), mRNA.	367						peroxisome	oxidoreductase activity|zinc ion binding			endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)		GGTAATTCAACTACAATTTTT	0.398000													22	38					0	0	1	0	0
ZDHHC14	79683	broad.mit.edu	37	6	158014166	158014166	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr6:158014166G>C	uc003qqt.3	+	2	1050	c.553G>C	c.(553-555)Gat>Cat	p.D185H	ZDHHC14_uc003qqs.3_Missense_Mutation_p.D185H|ZDHHC14_uc010kjm.1_Missense_Mutation_p.D80H	NM_024630	NP_078906	Q8IZN3	ZDH14_HUMAN	Homo sapiens zinc finger, DHHC-type containing 14 (ZDHHC14), transcript variant 1, mRNA.	185						integral to membrane	acyltransferase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		CAGCCTTTGTGATAACTGCGT	0.582000													4	84					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125113341	125113341	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr8:125113341G>T	uc003yqw.3	+	37	5093	c.4887G>T	c.(4885-4887)tgG>tgT	p.W1629C	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1629	C2 6.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TTTTTAGGTGGTTAAAGGGCT	0.408000													21	36					2.27731e-05	2.27731e-05	1	1	0
CROCCP2	84809	broad.mit.edu	37	1	16946396	16946396	+	RNA	SNP	C	C	T	rs367013	byFrequency	TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr1:16946396C>T	uc010ocf.2	-	2		c.502G>A			CROCCP2_uc009vov.2_Non-coding_Transcript|CROCCP2_uc001aze.3_Non-coding_Transcript|CROCCP2_uc001azf.3_Non-coding_Transcript					Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 2 (CROCCP2), non-coding RNA.																		TGCTGCAGGGCAGCAATCTCC	0.667000													8	55					0	0	1	0	0
PMEL	6490	broad.mit.edu	37	12	56351068	56351068	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr12:56351068G>A	uc001sir.3	-	5	1682	c.1019C>T	c.(1018-1020)gCg>gTg	p.A340V	PMEL_uc001siq.3_Missense_Mutation_p.A340V|PMEL_uc010spx.2_Missense_Mutation_p.A254V|PMEL_uc001sip.3_Missense_Mutation_p.A340V	NM_006928	NP_008859	P40967	PMEL_HUMAN	Homo sapiens premelanosome protein (PMEL), transcript variant 3, mRNA.	340	10 X 13 AA approximate tandem repeats, RPT domain.				melanin biosynthetic process|melanosome organization	Golgi apparatus|endoplasmic reticulum membrane|extracellular region|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGCAGTTGGCGCCTGACCAGG	0.577000													28	46					0	0	1	0	0
C3orf30	152405	broad.mit.edu	37	3	118870094	118870094	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr3:118870094delT	uc003ecb.1	+	2	1606	c.1566delT	c.(1564-1566)tatfs	p.Y522fs	C3orf30_uc011biw.1_Frame_Shift_Del_p.Y521fs	NM_152539	NP_689752	Q96M34	CC030_HUMAN	Homo sapiens chromosome 3 open reading frame 30 (C3orf30), mRNA.	522										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		ACTTAGTCTATGAAAAGCCAG	0.358													12	274	---	---	---	---					
BC080605	0	broad.mit.edu	37	9	68413605	68413606	+	RNA	DEL	CT	CT	-			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr9:68413605_68413606delCT	uc004aex.3	+	0		c.160_161delCT								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		TTTGCTGAAACTCTGGGGTTGA	0.609													6	12	---	---	---	---					
ROBO3	64221	broad.mit.edu	37	11	124745490	124745491	+	Frame_Shift_Ins	INS	-	-	G	rs140619532	by1000genomes	TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr11:124745490_124745491insG	uc001qbc.3	+	14	2499_2500	c.2330_2331insG	c.(2329-2331)gtgfs	p.V777fs	ROBO3_uc010saq.2_5'Flank|ROBO3_uc001qbd.2_5'Flank|ROBO3_uc010sar.2_5'Flank|ROBO3_uc001qbe.3_5'Flank|ROBO3_uc001qbf.1_5'Flank	NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 3 (Drosophila) (ROBO3), mRNA.	777	Fibronectin type-III 3.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		GGAGTGGCGGTGGCCTTGGGGG	0.604													8	65	---	---	---	---					
INO80E	283899	broad.mit.edu	37	16	30016652	30016653	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr16:30016652_30016653insC	uc002dvg.1	+	6	725_726	c.624_625insC	c.(622-627)atgcccfs	p.M208fs	BOLA2_uc010bzb.1_Intron|INO80E_uc002dvh.1_Non-coding_Transcript	NM_173618	NP_775889	Q8NBZ0	IN80E_HUMAN	Homo sapiens INO80 complex subunit E (INO80E), mRNA.	208	Pro-rich.				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex		p.T212fs*3(1)		endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	6						CCCCTAAGATGCCCCCCCCCAC	0.673													2	4	---	---	---	---					
CTCFL	140690	broad.mit.edu	37	20	56099187	56099187	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr20:56099187delT	uc010giw.1	-	1	186	c.75delA	c.(73-75)aaafs	p.K25fs	CTCFL_uc010gix.1_Frame_Shift_Del_p.K25fs|CTCFL_uc002xym.2_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjb.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gja.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjc.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjd.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gje.3_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjg.3_Intron|CTCFL_uc010gjf.3_Intron|CTCFL_uc010gjh.2_Frame_Shift_Del_p.K25fs|CTCFL_uc010gji.2_Intron|CTCFL_uc010gjj.2_Frame_Shift_Del_p.K25fs|CTCFL_uc021wfe.1_Frame_Shift_Del_p.K25fs|CTCFL_uc021wff.1_Intron|CTCFL_uc021wfg.1_Intron|CTCFL_uc010gjk.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjl.1_Frame_Shift_Del_p.K25fs	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein)-like (CTCFL), mRNA.	25					DNA methylation involved in gamete generation|cell cycle|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CCTTCAGGCCTTTTTCCGGCA	0.502													7	475	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76855230	76855230	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chrX:76855230delG	uc004ecp.4	-	23	5989	c.5757delC	c.(5755-5757)tccfs	p.S1919fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.S1881fs|ATRX_uc004eco.4_Frame_Shift_Del_p.S1704fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1919					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|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)	TTAAACTCATGGAGGTTTCAT	0.338			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						22	8	---	---	---	---					
