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
APOB	338	broad.mit.edu	37	2	21225141	21225141	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr2:21225141G>A	uc002red.3	-	28	13281	c.13153C>T	c.(13153-13155)Cgt>Tgt	p.R4385C		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	4385					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TATTCTTCACGAAGGGCCATA	0.363000													24	42					0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28993042	28993042	+	Silent	SNP	T	T	A			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr18:28993042T>A	uc002kwr.2	+	14	2799	c.2664T>A	c.(2662-2664)ccT>ccA	p.P888P	DSG4_uc002kwq.2_Silent_p.P869P	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	869					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CTGACCTCCCTTTGCTCGGAC	0.418000													71	100					0	0	1	0	0
LOC728989	728989	broad.mit.edu	37	1	146494537	146494537	+	Silent	SNP	C	C	T			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr1:146494537C>T	uc001epd.2	-	3	536	c.462G>A	c.(460-462)gcG>gcA	p.A154A						Homo sapiens phosphodiesterase 4D interacting protein pseudogene (LOC728989), non-coding RNA.																		TTGGCAGGGCCGCTCTCCAGA	0.567000													3	30					0	0	1	0	0
ZAP70	7535	broad.mit.edu	37	2	98354121	98354121	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr2:98354121A>G	uc002syd.1	+	10	1682	c.1475A>G	c.(1474-1476)tAc>tGc	p.Y492C	ZAP70_uc002sye.1_Missense_Mutation_p.Y382C|ZAP70_uc002syf.1_Missense_Mutation_p.Y185C	NM_001079	NP_997402	P43403	ZAP70_HUMAN	Homo sapiens zeta-chain (TCR) associated protein kinase 70kDa (ZAP70), transcript variant 1, mRNA.	492	Protein kinase.				T cell receptor signaling pathway|immune response|intracellular protein kinase cascade|positive thymic T cell selection	T cell receptor complex|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GACGACAGCTACTACACTGTA	0.637000													30	46					0	0	1	0	0
DAGLA	747	broad.mit.edu	37	11	61504678	61504678	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr11:61504678C>G	uc001nsa.3	+	13	1512	c.1396C>G	c.(1396-1398)Ctg>Gtg	p.L466V		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	Homo sapiens diacylglycerol lipase, alpha (DAGLA), mRNA.	466					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		ACACTACGGCCTGATTGTGGT	0.637000													135	177					0	0	1	0	0
KRT15	3866	broad.mit.edu	37	17	39673389	39673389	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr17:39673389C>T	uc002hwy.3	-	1	718	c.527G>A	c.(526-528)cGg>cAg	p.R176Q	KRT15_uc002hwz.3_Missense_Mutation_p.G39R|KRT15_uc002hxa.3_Intron|KRT15_uc002hxb.1_Intron	NM_002275	NP_002266	P19012	K1C15_HUMAN	Homo sapiens keratin 15 (KRT15), mRNA.	176	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				CAGGATGACCCGGGAGTTGTC	0.597000													60	113					0	0	1	0	0
GOLGA6L10	647042	broad.mit.edu	37	15	83014132	83014132	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr15:83014132C>G	uc021ssz.1	-	5	551	c.415G>C	c.(415-417)Gag>Cag	p.E139Q	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.	151								p.E151Q(4)		endometrium(1)|kidney(4)	5						GCTGGGGGCTCTGGGGCCAGG	0.522000													3	15					0	0	1	0	0
OR4C13	283092	broad.mit.edu	37	11	49974106	49974106	+	Silent	SNP	G	G	T			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr11:49974106G>T	uc010rhz.2	+	0	164	c.132G>T	c.(130-132)gtG>gtT	p.V44V		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 13 (OR4C13), mRNA.	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						TGCTCATTGTGGTCACCATCA	0.428000													120	155					8.41509e-73	9.31031e-73	1	1	0
LGALS2	3957	broad.mit.edu	37	22	37966744	37966744	+	Splice_Site	SNP	T	T	C			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr22:37966744T>C	uc003ata.3	-	3	202	c.90_splice	c.e3-1	p.G30_splice		NM_006498	NP_006489	P05162	LEG2_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 2 (LGALS2), mRNA.	30	Galectin.									breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)	11	Melanoma(58;0.0574)					ATTACAAAGCTGCAGGAGAAG	0.527000													45	59					0	0	1	0	0
NT5C	30833	broad.mit.edu	37	17	73127345	73127345	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr17:73127345C>T	uc002jmx.3	-	1	294	c.206G>A	c.(205-207)gGc>gAc	p.G69D	NT5C_uc002jmy.3_Non-coding_Transcript|NT5C_uc021ucw.1_Missense_Mutation_p.G69D	NM_014595	NP_055410	Q8TCD5	NT5C_HUMAN	Homo sapiens 5', 3'-nucleotidase, cytosolic (NT5C), transcript variant 1, mRNA.	69					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine deoxyribonucleotide catabolic process|pyrimidine nucleoside catabolic process	cytosol|nucleus	5'-nucleotidase activity|metal ion binding|pyrimidine nucleotide binding					all_lung(278;0.14)|Lung NSC(278;0.168)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)			CAGGAAAAAGCCCGGGGCTTC	0.652000													49	63					0	0	1	0	0
AMIGO2	347902	broad.mit.edu	37	12	47471391	47471391	+	Missense_Mutation	SNP	T	T	A			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr12:47471391T>A	uc001rpm.3	-	2	2050	c.1395A>T	c.(1393-1395)agA>agT	p.R465S	FAM113B_uc001rpn.3_5'Flank|AMIGO2_uc001rpk.3_Missense_Mutation_p.R465S|AMIGO2_uc001rpl.3_Missense_Mutation_p.R465S|AMIGO2_uc021qxg.1_Missense_Mutation_p.R465S	NM_001143668	NP_862830	Q86SJ2	AMGO2_HUMAN	Homo sapiens adhesion molecule with Ig-like domain 2 (AMIGO2), transcript variant 1, mRNA.	465					heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					AAAACACCACTCTTTTACCTG	0.522000													28	7					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628300	29628300	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr20:29628300G>A	uc010ztl.1	+	2	244	c.212G>A	c.(211-213)aGt>aAt	p.S71N	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.S23N					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.S101N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAGCAAAAAGTAAAACAGCA	0.358000													7	125					0	0	1	0	0
PCM1	5108	broad.mit.edu	37	8	17829972	17829972	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr8:17829972G>A	uc022asj.1	+	21	3858	c.3836G>A	c.(3835-3837)cGc>cAc	p.R1279H	PCM1_uc003wyi.4_Missense_Mutation_p.R1240H|PCM1_uc011kyh.2_Missense_Mutation_p.R1240H|PCM1_uc003wyj.4_Missense_Mutation_p.R1241H|PCM1_uc011kyi.2_Missense_Mutation_p.R102H|PCM1_uc011kyj.2_5'UTR|PCM1_uc003wyk.4_5'UTR	NM_006197	NP_006188	Q15154	PCM1_HUMAN	Homo sapiens pericentriolar material 1 (PCM1), mRNA.	1240	Interaction with HAP1.				G2/M transition of mitotic cell cycle|centrosome organization|cilium assembly|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		AGTAGTAACCGCAAAAATCAA	0.383000			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""								3	52					0	0	1	0	0
SLFN12	55106	broad.mit.edu	37	17	33738559	33738559	+	Nonsense_Mutation	SNP	A	A	C			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr17:33738559A>C	uc002hji.4	-	3	1912	c.1535T>G	c.(1534-1536)tTa>tGa	p.L512*	SLFN12_uc002hjj.4_Nonsense_Mutation_p.L512*|SLFN12_uc010cts.3_Nonsense_Mutation_p.L512*	NM_018042	NP_060512	Q8IYM2	SLN12_HUMAN	Homo sapiens schlafen family member 12 (SLFN12), mRNA.	512							ATP binding			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TTGCGACCTTAAATCATACTG	0.393000													4	92					0	0	1	0	0
OR4N3P	390539	broad.mit.edu	37	15	22414053	22414053	+	Missense_Mutation	SNP	C	C	A			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr15:22414053C>A	uc001yuf.3	+	0	592	c.352C>A	c.(352-354)Ctg>Atg	p.L118M	abParts_uc001yuj.2_Intron					Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA.																		GGTGGAGCTTCTGATGGTCTT	0.507000													6	83					3.09899e-07	3.22294e-07	1	1	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	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								30	48					0	0	1	0	0
RPE65	6121	broad.mit.edu	37	1	68904625	68904625	+	Splice_Site	SNP	C	C	A			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr1:68904625C>A	uc001dei.1	-	9	1052	c.998_splice	c.e9+1	p.G333_splice		NM_000329	NP_000320	Q16518	RPE65_HUMAN	Homo sapiens retinal pigment epithelium-specific protein 65kDa (RPE65), mRNA.	333					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						CCTTTCTTACCCTTTCCAGCA	0.423000													124	190					6.74356e-53	7.30552e-53	1	1	0
PLCB2	5330	broad.mit.edu	37	15	40584082	40584082	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr15:40584082C>T	uc001zld.3	-	23	2871	c.2570G>A	c.(2569-2571)gGg>gAg	p.G857E	PLCB2_uc001zlc.3_5'Flank|PLCB2_uc010bbo.3_Missense_Mutation_p.G853E|PLCB2_uc010ucm.2_Missense_Mutation_p.G857E	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA.	857					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)		GGCCAACGCCCCATTGACCTG	0.622000													22	12					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578280	7578280	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr17:7578280G>C	uc002gim.2	-	5	763	c.569C>G	c.(568-570)cCt>cGt	p.P190R	TP53_uc002gig.1_Missense_Mutation_p.P190R|TP53_uc002gih.3_Missense_Mutation_p.P190R|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.P58R|TP53_uc010cnf.1_Missense_Mutation_p.P58R|TP53_uc002gii.1_Missense_Mutation_p.P58R|TP53_uc010cni.1_Missense_Mutation_p.P190R|TP53_uc010cnh.1_Missense_Mutation_p.P190R|TP53_uc002gij.2_Missense_Mutation_p.P190R|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.P97R|TP53_uc002gio.2_Missense_Mutation_p.P58R|TP53_uc010vug.2_Missense_Mutation_p.P151R	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	190	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> H (in a sporadic cancer; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; 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.P190L(43)|p.P190fs*57(12)|p.P190del(12)|p.0?(8)|p.A189_V197delAPPQHLIRV(8)|p.?(7)|p.P190S(6)|p.P190F(4)|p.A189V(4)|p.P190R(4)|p.P190T(4)|p.A189T(3)|p.A189_Q192>E(2)|p.G187fs*16(2)|p.D186_P191delDGLAPP(2)|p.P190A(2)|p.A189P(2)|p.A189fs*53(2)|p.P190H(2)|p.A189G(2)|p.A189A(2)|p.L188_P191del(2)|p.A189_P190>X(2)|p.K164_P219del(1)|p.P58fs*>33(1)|p.P190P(1)|p.P191fs*18(1)|p.A189S(1)|p.P190fs*19(1)|p.A189fs*19(1)|p.A189fs*58(1)|p.A189D(1)|p.P97fs*57(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)		ATGCTGAGGAGGGGCCAGACC	0.552000		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)			57	10					0	0	1	0	0
GPR78	27201	broad.mit.edu	37	4	8583134	8583134	+	Missense_Mutation	SNP	T	T	G			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr4:8583134T>G	uc003glk.3	+	0	918	c.425T>G	c.(424-426)cTt>cGt	p.L142R	GPR78_uc021xlj.1_Intron|CPZ_uc003gll.3_Non-coding_Transcript	NM_080819	NP_543009	Q96P69	GPR78_HUMAN	Homo sapiens G protein-coupled receptor 78 (GPR78), transcript variant 1, mRNA.	142					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L142H(2)		central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						GGCGCTGCACTTGGCTGCTCG	0.711000													13	20					0	0	1	0	0
MUC3A	4584	broad.mit.edu	37	7	100552563	100552563	+	Silent	SNP	C	C	T			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr7:100552563C>T	uc003uxl.1	+	0	1814	c.1014C>T	c.(1012-1014)ggC>ggT	p.G338G	MUC3A_uc003uxk.1_Non-coding_Transcript					SubName: Full=Intestinal mucin; Flags: Fragment;											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						CTCTTCCTGGCGTCTCTACCA	0.557000													19	253					0	0	1	0	0
MPZ	4359	broad.mit.edu	37	1	161275672	161275672	+	Silent	SNP	C	C	T			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr1:161275672C>T	uc001gaf.4	-	5	808	c.741G>A	c.(739-741)aaG>aaA	p.K247K		NM_000530	NP_000521	P25189	MYP0_HUMAN	Homo sapiens myelin protein zero (MPZ), mRNA.	247					synaptic transmission	integral to plasma membrane	structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	10	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	BRCA - Breast invasive adenocarcinoma(70;0.00376)			ACCGCTATTTCTTATCCTTGC	0.592000													44	58					0	0	1	0	0
GXYLT1	283464	broad.mit.edu	37	12	42512817	42512817	+	Silent	SNP	A	A	G	rs115323055	by1000genomes	TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr12:42512817A>G	uc001rms.4	-	2	696	c.471T>C	c.(469-471)caT>caC	p.H157H	GXYLT1_uc001rmt.4_Silent_p.H126H	NM_173601	NP_775872	Q4G148	GXLT1_HUMAN	Homo sapiens glucoside xylosyltransferase 1 (GXYLT1), transcript variant 1, mRNA.	157					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						CTTTAAAGCTATGATGTAGCT	0.323000													4	25					0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118680	118680	+	RNA	SNP	T	T	C			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chrGL000205.1:118680T>C	uc002kgk.4	+	0		c.2058T>C								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GTGTGATTTATTAACGCCCAA	0.378000													5	9					0	0	1	0	0
TOP1MT	116447	broad.mit.edu	37	8	144392244	144392244	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr8:144392244A>G	uc003yxz.3	-	12	1716	c.1697T>C	c.(1696-1698)aTt>aCt	p.I566T	TOP1MT_uc011lkd.2_Missense_Mutation_p.I468T|TOP1MT_uc011lke.2_Missense_Mutation_p.I468T|TOP1MT_uc011lkf.2_Missense_Mutation_p.I361T	NM_052963	NP_443195	Q969P6	TOP1M_HUMAN	Homo sapiens topoisomerase (DNA) I, mitochondrial (TOP1MT), nuclear gene encoding mitochondrial protein, mRNA.	566					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|chromatin DNA binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	GCACCAGGCAATGCTGATCCT	0.627000													47	79					0	0	1	0	0
STX11	8676	broad.mit.edu	37	6	144508400	144508400	+	Silent	SNP	C	C	T			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr6:144508400C>T	uc003qks.4	+	1	828	c.636C>T	c.(634-636)cgC>cgT	p.R212R	STX11_uc021zgk.1_Silent_p.R212R	NM_003764	NP_003755	O75558	STX11_HUMAN	Homo sapiens syntaxin 11 (STX11), mRNA.	212	t-SNARE coiled-coil homology.			ARAALNEIESRHRELLRLESR -> RGPPTTRSRAATANCC AWRAA (in Ref. 2; AAC24031).	cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		GCCGCCACCGCGAACTGCTGC	0.637000									Familial Hemophagocytic Lymphohistiocytosis				40	14					0	0	1	0	0
RTP2	344892	broad.mit.edu	37	3	187416395	187416395	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr3:187416395G>A	uc003fro.1	-	1	998	c.569C>T	c.(568-570)gCg>gTg	p.A190V		NM_001004312	NP_001004312	Q5QGT7	RTP2_HUMAN	Homo sapiens receptor (chemosensory) transporter protein 2 (RTP2), mRNA.	190					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		GCCGGATCCCGCCTGGGCCCT	0.612000													47	75					0	0	1	0	0
C8A	731	broad.mit.edu	37	1	57341750	57341750	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr1:57341750G>A	uc001cyo.2	+	3	464	c.332G>A	c.(331-333)cGc>cAc	p.R111H		NM_000562	NP_000553	P07357	CO8A_HUMAN	Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.	111	LDL-receptor class A.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						TGCCTGAAACGCCACCTTGTG	0.542000													16	38					0	0	1	0	0
AEBP1	165	broad.mit.edu	37	7	44151920	44151920	+	Splice_Site	SNP	G	G	A			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr7:44151920G>A	uc003tkb.3	+	17	2522	c.2217_splice	c.e17+1	p.T739_splice	AEBP1_uc003tkc.4_Splice_Site_p.T314_splice|AEBP1_uc003tkd.3_Splice_Site	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	Homo sapiens AE binding protein 1 (AEBP1), mRNA.	739	Interaction with PTEN (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						CAGATGCCACGGTGAGGCTAC	0.622000													4	75					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144942913	144942913	+	Silent	SNP	G	G	A			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr8:144942913G>A	uc003zaa.1	-	0	4522	c.4509C>T	c.(4507-4509)agC>agT	p.S1503S		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	1503						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGGTGACTGCGCTGACCACCT	0.687000													4	8					0	0	1	0	0
ANKRD34B	340120	broad.mit.edu	37	5	79854526	79854526	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr5:79854526T>C	uc010jam.3	-	3	1663	c.1313A>G	c.(1312-1314)gAt>gGt	p.D438G	ANKRD34B_uc003kgw.3_Missense_Mutation_p.D438G|ANKRD34B_uc010jan.3_Missense_Mutation_p.D438G|ANKRD34B_uc021yax.1_Missense_Mutation_p.D438G	NM_001004441	NP_001004441	A5PLL1	AN34B_HUMAN	Homo sapiens ankyrin repeat domain 34B (ANKRD34B), mRNA.	438						cytoplasm|nucleus				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		AACACTGTGATCTAAAGGGAA	0.453000													75	109					0	0	1	0	0
OTOS	150677	broad.mit.edu	37	2	241079506	241079506	+	Splice_Site	SNP	C	C	T			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr2:241079506C>T	uc002vyv.3	-	3	214	c.59_splice	c.e3-1	p.G20_splice		NM_148961	NP_683764	Q8NHW6	OTOSP_HUMAN	Homo sapiens otospiralin (OTOS), mRNA.	20						extracellular region				endometrium(2)|large_intestine(1)|lung(3)	6		all_epithelial(40;2.79e-15)|Breast(86;3.04e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|Hepatocellular(293;0.148)|all_hematologic(139;0.158)|Melanoma(123;0.16)		Epithelial(32;2.56e-30)|all cancers(36;7.18e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.37e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.07e-06)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		GGCTTGGCCCCTGCAAAGGAA	0.572000													23	8					0	0	1	0	0
PIK3R1	5295	broad.mit.edu	37	5	67591097	67591097	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr5:67591097A>G	uc003jva.3	+	12	2270	c.1690A>G	c.(1690-1692)Aac>Gac	p.N564D	PIK3R1_uc003jvc.3_Missense_Mutation_p.N264D|PIK3R1_uc003jvd.3_Missense_Mutation_p.N294D|PIK3R1_uc003jve.3_Missense_Mutation_p.N243D|PIK3R1_uc021xzn.1_Missense_Mutation_p.N201D|PIK3R1_uc011crb.2_Missense_Mutation_p.N234D	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	564					T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.N564D(8)|p.D560_S565del(2)|p.N564K(2)|p.R562_M563ins13(1)|p.0?(1)|p.?(1)|p.N564fs*?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CAAACGTATGAACAGCATTAA	0.373000			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)			52	51					0	0	1	0	0
HEATR8	374977	broad.mit.edu	37	1	55166019	55166019	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr1:55166019G>A	uc010ooe.1	+	17	3314	c.2990G>A	c.(2989-2991)cGg>cAg	p.R997Q	HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc010ooc.1_Missense_Mutation_p.G527R|HEATR8_uc010ood.1_Missense_Mutation_p.R515Q|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript|HEATR8_uc009vzr.1_Missense_Mutation_p.R199Q	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	997						integral to membrane	binding			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CAGGTGCGCCGGATCCCCGAG	0.642000													4	50					0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872176	51872176	+	Missense_Mutation	SNP	T	T	C	rs35790657		TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr20:51872176T>C	uc002xwo.3	+	1	3066	c.2179T>C	c.(2179-2181)Tcc>Ccc	p.S727P	TSHZ2_uc021wex.1_Missense_Mutation_p.S724P	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	727					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AAGCACAATTTCCATGTTCCA	0.562000													35	36					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100679199	100679199	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr7:100679199G>A	uc003uxp.1	+	2	4555	c.4502G>A	c.(4501-4503)gGt>gAt	p.G1501D	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1501	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCTGCTGAAGGTACCAGCATA	0.478000													6	337					0	0	1	0	0
RSBN1	54665	broad.mit.edu	37	1	114308980	114308980	+	Silent	SNP	G	G	A			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr1:114308980G>A	uc001edq.3	-	6	2067	c.2031C>T	c.(2029-2031)ttC>ttT	p.F677F	RSBN1_uc001edr.3_Non-coding_Transcript	NM_018364	NP_060834	Q5VWQ0	RSBN1_HUMAN	Homo sapiens round spermatid basic protein 1 (RSBN1), mRNA.	677						nucleus		p.F677F(2)		breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTCTAGGGATGAAGTAGATAT	0.443000													39	62					0	0	1	0	0
AK302879	0	broad.mit.edu	37	15	76073351	76073351	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr15:76073351G>A	uc010umm.1	+	6	544	c.467G>A	c.(466-468)cGt>cAt	p.R156H	DNM1P35_uc021sqp.1_Intron|DQ582939_uc002bba.1_5'Flank					SubName: Full=cDNA FLJ59077, highly similar to Golgin subfamily A member 6;																		TCCTTACAGCGTATTCAAGAA	0.567000													4	95					0	0	1	0	0
VAV3	10451	broad.mit.edu	37	1	108507542	108507544	+	Splice_Site	DEL	GCC	GCC	-	rs71796067		TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr1:108507542_108507544delGCC	uc001dvk.1	-	1	1	c.-53_splice	c.e1-1		VAV3_uc010ouw.1_Splice_Site|VAV3_uc001dvl.1_5'Flank|VAV3_uc010oux.1_Splice_Site	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	Homo sapiens vav 3 guanine nucleotide exchange factor (VAV3), transcript variant 1, mRNA.						B cell receptor signaling pathway|angiogenesis|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CAAGGATGCGgccgccgccgccg	0.773													6	7	---	---	---	---					
POU4F2	5458	broad.mit.edu	37	4	147560457	147560458	+	In_Frame_Ins	INS	-	-	GGC	rs67907220		TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr4:147560457_147560458insGGC	uc003ikv.3	+	0	413_414	c.165_166insGGC	c.(163-168)insGGC	p.68_69insG		NM_004575	NP_004566	Q12837	PO4F2_HUMAN	Homo sapiens POU class 4 homeobox 2 (POU4F2), mRNA.	68	Poly-Gly.				MAPKKK cascade|estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					ACGCTggtggtggcggcggcgg	0.762													5	10	---	---	---	---					
GRIN3B	116444	broad.mit.edu	37	19	1009186	1009188	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr19:1009186_1009188delAGC	uc002lqo.1	+	8	2717_2719	c.2717_2719delAGC	c.(2716-2721)gagcag>gag	p.Q912del	FLJ00277_uc002lqp.1_Non-coding_Transcript	NM_138690	NP_619635	O60391	NMD3B_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3B (GRIN3B), mRNA.	912					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	CCCGAGGTGGagcagcagcagca	0.744													3	4	---	---	---	---					
GGT5	2687	broad.mit.edu	37	22	24628809	24628809	+	Frame_Shift_Del	DEL	A	A	-			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr22:24628809delA	uc002zzp.4	-	3	995	c.578delT	c.(577-579)ttgfs	p.L193fs	GGT5_uc002zzo.4_Frame_Shift_Del_p.L193fs|GGT5_uc002zzr.4_Frame_Shift_Del_p.L161fs|GGT5_uc002zzq.4_Frame_Shift_Del_p.L161fs|GGT5_uc011ajm.2_Frame_Shift_Del_p.L117fs|GGT5_uc011ajn.1_Intron	NM_001099781	NP_001093251	P36269	GGT5_HUMAN	Homo sapiens gamma-glutamyltransferase 5 (GGT5), transcript variant 1, mRNA.	193					glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						TGACGCCTGCAAGGAAGGCCG	0.662													2	4	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76919034	76919035	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chrX:76919034_76919035delTT	uc004ecp.4	-	11	4188_4189	c.3956_3957delAA	c.(3955-3957)caafs	p.Q1319fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.Q1281fs|ATRX_uc004eco.4_Frame_Shift_Del_p.Q1104fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.Q1251fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1319					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)	CAGAATTGACTTGATTTTTTGC	0.361			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						9	2	---	---	---	---					
