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_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
CYP2C9	1559	broad.mit.edu	37	10	96698494	96698494	+	Missense_Mutation	SNP	C	A	A	rs67807361		TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr10:96698494C>A	uc001kka.3	+	1	80	c.55C>A	c.(55-57)CTC>ATC	p.L19I	CYP2C9_uc009xut.2_Missense_Mutation_p.L19I|CYP2C9_uc001kjz.2_Missense_Mutation_p.L19I	NM_000771	NP_000762	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C,	19			L -> I (in allele CYP2C9*7).		exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			skin(4)|ovary(2)	6		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	TCTCCTTTCACTCTGGAGACA	0.473000													5	119					3.59834e-05	3.79284e-05	0.001168	1	0
LOC646813	646813	broad.mit.edu	37	11	50379403	50379403	+	RNA	SNP	T	C	C	rs692607	by1000genomes	TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr11:50379403T>C	uc001nhe.2	+	6		c.886T>C			LOC646813_uc001nhf.1_RNA|LOC646813_uc001nhg.1_RNA|LOC646813_uc001nhh.1_RNA|LOC646813_uc010rib.1_RNA	NR_024504				Homo sapiens mRNA for hypothetical protein, partial sequence, clone:Hsa11-digit09-11-09-R.												0						TCCCTTTTAATTCATCAAAGC	0.318000													3	23					0	0	0.004672	0	0
MS4A3	932	broad.mit.edu	37	11	59830060	59830060	+	Silent	SNP	G	A	A			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr11:59830060G>A	uc001nom.2	+	3	404	c.276G>A	c.(274-276)CCG>CCA	p.P92P	MS4A3_uc001non.2_Intron|MS4A3_uc001noo.2_Intron	NM_006138	NP_006129	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member	92	Helical; (Potential).					endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity			ovary(2)|skin(1)	3		all_epithelial(135;0.245)				CAGGCTACCCGATTTGGGGTG	0.423000													47	57					0	0	0.014410	0	0
CADM1	23705	broad.mit.edu	37	11	115109342	115109342	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr11:115109342T>C	uc001ppi.3	-	3	431	c.302A>G	c.(301-303)AAT>AGT	p.N101S	CADM1_uc001ppf.3_Missense_Mutation_p.N101S|CADM1_uc001ppk.3_Missense_Mutation_p.N101S|CADM1_uc001ppj.3_Missense_Mutation_p.N101S|CADM1_uc001ppl.2_Missense_Mutation_p.N101S	NM_014333	NP_055148	Q9BY67	CADM1_HUMAN	immunoglobulin superfamily, member 4D isoform 1	101	Ig-like V-type.|Extracellular (Potential).				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			ovary(2)	2	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		GCTAGAAAAATTCAGCAACTG	0.393000													27	27					0	0	0.006320	0	0
KERA	11081	broad.mit.edu	37	12	91445220	91445220	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr12:91445220T>C	uc001tbl.2	-	3	1581	c.962A>G	c.(961-963)CAT>CGT	p.H321R		NM_007035	NP_008966	O60938	KERA_HUMAN	keratocan precursor	321					response to stimulus|visual perception	proteinaceous extracellular matrix				skin(1)	1						GTAGCGAAGATGAGGTCCATA	0.438000													12	28					0	0	0.013537	0	0
LRRC43	254050	broad.mit.edu	37	12	122684844	122684844	+	Silent	SNP	G	A	A			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr12:122684844G>A	uc009zxm.2	+	8	1483	c.1458G>A	c.(1456-1458)CTG>CTA	p.L486L	LRRC43_uc001ubw.3_Silent_p.L301L|LRRC43_uc009zxn.2_Silent_p.L247L	NM_001098519	NP_001091989	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43 isoform 1	486											0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CCTTCCTGCTGGCGGGGACCA	0.627000													6	108					0	0	0.001168	0	0
CDK10	8558	broad.mit.edu	37	16	89755723	89755723	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr16:89755723G>A	uc010cio.2	+	2	194	c.151G>A	c.(151-153)GGC>AGC	p.G51S	CDK10_uc002foa.2_Intron|CDK10_uc010cip.2_Intron|CDK10_uc010vpl.1_Intron|CDK10_uc002fob.2_Intron|CDK10_uc002fod.2_5'UTR|CDK10_uc002foe.2_5'UTR|CDK10_uc002fof.2_5'UTR|CDK10_uc002fog.3_Intron|CDK10_uc002foh.3_Intron	NM_052988	NP_443714	Q15131	CDK10_HUMAN	cyclin-dependent kinase 10 isoform a	51	ATP (By similarity).|Protein kinase.				negative regulation of cell proliferation|traversing start control point of mitotic cell cycle		ATP binding|cyclin-dependent protein kinase activity|protein binding			ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		GGGTACCTACGGCATTGTGTG	0.582000													28	41					0	0	0.007291	0	0
GNAL	2774	broad.mit.edu	37	18	11880999	11880999	+	Silent	SNP	G	A	A			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr18:11880999G>A	uc010dkz.2	+	13	1257	c.1011G>A	c.(1009-1011)ACG>ACA	p.T337T	GNAL_uc002kqc.2_Silent_p.T414T|GNAL_uc002kqd.2_Silent_p.T337T|GNAL_uc010wzt.1_Silent_p.T130T	NM_001142339	NP_001135811	P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein),	337					activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			ovary(1)	1						GGATCAGCACGGCCACCGGTG	0.622000													26	47					0	0	0.008361	0	0
IL1R2	7850	broad.mit.edu	37	2	102641101	102641101	+	Silent	SNP	G	A	A			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr2:102641101G>A	uc002tbm.2	+	7	1087	c.858G>A	c.(856-858)CCG>CCA	p.P286P	IL1R2_uc002tbn.2_Silent_p.P286P|IL1R2_uc002tbo.1_Silent_p.P286P	NM_004633	NP_004624	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II precursor	286	Extracellular (Potential).|Ig-like C2-type 3.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			ovary(1)|breast(1)	2					Anakinra(DB00026)	GCGCCTACCCGGGAGGCCGCG	0.572000													4	75					0	0	0.014758	0	0
IL1F8	27177	broad.mit.edu	37	2	113788702	113788702	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr2:113788702C>T	uc002tiq.1	-	3	148	c.44G>A	c.(43-45)CGT>CAT	p.R15H	IL1F8_uc002tir.1_Missense_Mutation_p.R15H	NM_014438	NP_055253	Q9NZH7	IL36B_HUMAN	interleukin 1 family, member 8 isoform 1	15					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			ovary(1)	1						TCGAGAATCACGAATAGCATA	0.478000													17	40					0	0	0.004990	0	0
TTN	7273	broad.mit.edu	37	2	179593263	179593263	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr2:179593263C>T	uc010zfg.1	-	63	15882	c.15658G>A	c.(15658-15660)GGA>AGA	p.G5220R	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G1881R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	6147							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTACTGCTTCCGAAGTCATTT	0.398000													5	14					0	0	0.014758	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	T	rs121913500		TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr2:209113112C>T	uc002vcs.2	-	4	641	c.395G>A	c.(394-396)CGT>CAT	p.R132H	IDH1_uc002vct.2_Missense_Mutation_p.R132H|IDH1_uc002vcu.2_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132		Substrate.	R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|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).|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 -> 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).		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(2023)|p.R132C(344)|p.R132?(210)|p.R132G(117)|p.R132S(79)|p.R132L(58)|p.R132V(1)|p.G131_R132>VL(1)		central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma 								29	44					0	0	0.013726	0	0
EIF4A2	1974	broad.mit.edu	37	3	186501406	186501406	+	Missense_Mutation	SNP	G	T	T			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr3:186501406G>T	uc003fqs.2	+	1	46	c.7G>T	c.(7-9)GGT>TGT	p.G3C	EIF4A2_uc003fqt.2_RNA|EIF4A2_uc003fqu.2_Missense_Mutation_p.G3C|EIF4A2_uc003fqv.2_5'UTR|EIF4A2_uc003fqw.2_5'UTR|SNORD2_uc010hyu.1_5'Flank|EIF4A2_uc011bsb.1_5'Flank	NM_001967	NP_001958	Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	3					interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity	p.G3V(1)		ovary(2)|breast(2)	4	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		GATCATGTCTGGTGGCTCCGC	0.572000			T	BCL6	NHL								53	86					7.89702e-26	9.05835e-26	0.014410	1	0
BBS7	55212	broad.mit.edu	37	4	122756377	122756377	+	Missense_Mutation	SNP	G	T	T			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr4:122756377G>T	uc003ied.2	-	14	1607	c.1433C>A	c.(1432-1434)CCC>CAC	p.P478H	BBS7_uc003iee.1_Missense_Mutation_p.P478H	NM_176824	NP_789794	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7 protein isoform a	478					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			ovary(1)	1						ACAGGTTTTGGGTTGAATTCT	0.393000									Bardet-Biedl_syndrome				18	44					5.3912e-06	5.84047e-06	0.006122	1	0
ROPN1L	83853	broad.mit.edu	37	5	10461352	10461352	+	Silent	SNP	C	T	T			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr5:10461352C>T	uc003jex.3	+	4	745	c.474C>T	c.(472-474)GGC>GGT	p.G158G		NM_031916	NP_114122	Q96C74	ROP1L_HUMAN	ropporin 1-like	158					ciliary or flagellar motility|signal transduction	cytoplasm|motile cilium	cAMP-dependent protein kinase regulator activity|protein binding			ovary(1)	1						ATCCGGAGGGCGGGCCCGCTC	0.567000													53	87					0	0	0.014410	0	0
SIM1	6492	broad.mit.edu	37	6	100911318	100911318	+	Silent	SNP	C	T	T			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr6:100911318C>T	uc003pqj.3	-	1	234	c.27G>A	c.(25-27)GCG>GCA	p.A9A	SIM1_uc010kcu.2_Silent_p.A9A	NM_005068	NP_005059	P81133	SIM1_HUMAN	single-minded homolog 1	9	Basic motif.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(4)	4		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TCCTAGTCCGCGCAGCATTTT	0.423000													24	148					0	0	0.008361	0	0
SYNE1	23345	broad.mit.edu	37	6	152485384	152485384	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr6:152485384C>T	uc010kiw.2	-	131	24306	c.23704G>A	c.(23704-23706)GCT>ACT	p.A7902T	SYNE1_uc010kiv.2_Missense_Mutation_p.A2426T|SYNE1_uc003qos.3_Missense_Mutation_p.A2426T|SYNE1_uc003qot.3_Missense_Mutation_p.A7831T|SYNE1_uc003qou.3_Missense_Mutation_p.A7902T|SYNE1_uc003qop.3_Missense_Mutation_p.A64T|SYNE1_uc011eez.1_Missense_Mutation_p.A104T|SYNE1_uc003qoq.3_Missense_Mutation_p.A104T|SYNE1_uc003qor.3_Missense_Mutation_p.A802T	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7902	Spectrin 28.|Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCGATGTGAGCGAGCCAGGTC	0.502000										HNSCC(10;0.0054)			58	25					0	0	0.014410	0	0
TUBBP5	643224	broad.mit.edu	37	9	141070687	141070687	+	Silent	SNP	C	T	T			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr9:141070687C>T	uc004com.2	+	4	351	c.90C>T	c.(88-90)GCC>GCT	p.A30A	TUBBP5_uc010ncq.2_Nonsense_Mutation_p.Q208*					RecName: Full=Putative tubulin beta-4q chain;												0						ACAACTGGGCCAAGGGACGCT	0.577000													3	1					0	0	0.009096	0	0
TUBBP5	643224	broad.mit.edu	37	9	141070695	141070695	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr9:141070695G>A	uc004com.2	+	4	359	c.98G>A	c.(97-99)CGC>CAC	p.R33H	TUBBP5_uc010ncq.2_Silent_p.T210T					RecName: Full=Putative tubulin beta-4q chain;												0						GCCAAGGGACGCTACACCGAA	0.592000													2	1					0	0	0.001168	0	0
OPHN1	4983	broad.mit.edu	37	X	67414334	67414334	+	Missense_Mutation	SNP	G	C	C			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chrX:67414334G>C	uc004dww.3	-	13	1405	c.1111C>G	c.(1111-1113)CAC>GAC	p.H371D	OPHN1_uc011mpg.1_Missense_Mutation_p.H371D	NM_002547	NP_002538	O60890	OPHN1_HUMAN	oligophrenin 1	371					axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			ovary(2)	2						ATAGGGCTGTGGTAGATCTAC	0.348000													19	25					0	0	0.012319	0	0
RGAG4	340526	broad.mit.edu	37	X	71350844	71350844	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chrX:71350844C>T	uc010nlh.1	-	1	908	c.547G>A	c.(547-549)GGG>AGG	p.G183R	NHSL2_uc011mqa.1_Intron|RGAG4_uc004eaj.1_RNA|NHSL2_uc004eak.1_5'Flank	NM_001024455	NP_001019626	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	183										ovary(2)|skin(1)	3	Renal(35;0.156)					TCGGCGCCCCCGGGGAAATGA	0.582000													4	69					0	0	0.009096	0	0
IRS4	8471	broad.mit.edu	37	X	107979043	107979043	+	Missense_Mutation	SNP	C	G	G			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chrX:107979043C>G	uc004eoc.2	-	1	565	c.532G>C	c.(532-534)GCG>CCG	p.A178P		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	178	PH.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						GCCACCATCGCGAAGTATTCG	0.612000													27	68					0	0	0.008361	0	0
ODZ1	10178	broad.mit.edu	37	X	123518058	123518058	+	Silent	SNP	C	T	T			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chrX:123518058C>T	uc004euj.2	-	29	6766	c.6702G>A	c.(6700-6702)CTG>CTA	p.L2234L	ODZ1_uc011muj.1_Silent_p.L2240L|ODZ1_uc010nqy.2_Silent_p.L2241L	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	2234	YD 20.|Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						AGGCTTTCTGCAGCAGGCCAT	0.458000													47	65					0	0	0.014410	0	0
RENBP	5973	broad.mit.edu	37	X	153208518	153208518	+	Missense_Mutation	SNP	T	G	G			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chrX:153208518T>G	uc004fjo.1	-	6	646	c.476A>C	c.(475-477)GAG>GCG	p.E159A	RENBP_uc011mzh.1_Missense_Mutation_p.E159A	NM_002910	NP_002901	P51606	RENBP_HUMAN	renin binding protein	159					mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity			ovary(1)|pancreas(1)	2	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	ATCCATCATCTCCACCGCTTC	0.711000													21	20					0	0	0.010504	0	0
TP53	7157	broad.mit.edu	37	17	7578471	7578471	+	Frame_Shift_Del	DEL	G	-	-	rs137852791		TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr17:7578471delG	uc002gim.2	-	5	653	c.459delC	c.(457-459)CCCfs	p.P153fs	TP53_uc002gig.1_Frame_Shift_Del_p.P153fs|TP53_uc002gih.2_Frame_Shift_Del_p.P153fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.P21fs|TP53_uc010cng.1_Frame_Shift_Del_p.P21fs|TP53_uc002gii.1_Frame_Shift_Del_p.P21fs|TP53_uc010cnh.1_Frame_Shift_Del_p.P153fs|TP53_uc010cni.1_Frame_Shift_Del_p.P153fs|TP53_uc002gij.2_Frame_Shift_Del_p.P153fs|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Frame_Shift_Del_p.P60fs|TP53_uc002gio.2_Frame_Shift_Del_p.P21fs|TP53_uc010vug.1_Frame_Shift_Del_p.P114fs	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	153	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		P -> T (in sporadic cancers; somatic mutation).|P -> R (in a sporadic cancer; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> H (in a sporadic cancer; somatic mutation).|P -> A (in sporadic cancers; somatic mutation).|P -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|P -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P153fs*28(10)|p.P153S(8)|p.0?(7)|p.P153P(7)|p.P153L(6)|p.P152fs*14(4)|p.P153T(3)|p.T150fs*16(3)|p.P153fs*26(2)|p.P153fs*22(2)|p.G154fs*27(2)|p.P153fs*16(1)|p.P151_V173del23(1)|p.T150_P153delTPPP(1)|p.P152_P153del(1)|p.D148_T155delDSTPPPGT(1)|p.P153fs*20(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.Q144_G154del11(1)|p.P152_P153insXXX(1)|p.P153_G154insX(1)|p.P153F(1)|p.P153A(1)|p.P153H(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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)		CGCGGGTGCCGGGCGGGGGTG	0.612		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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			70	28	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76813062	76813063	+	Frame_Shift_Ins	INS	-	AG	AG			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chrX:76813062_76813063insAG	uc004ecp.3	-	30	6790_6791	c.6558_6559insCT	c.(6556-6561)TCTTTTfs	p.S2186fs	ATRX_uc004ecq.3_Frame_Shift_Ins_p.S2148fs|ATRX_uc004eco.3_Frame_Shift_Ins_p.S1971fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	2186_2187	Helicase C-terminal.				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			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	ACAACTCGAAAAGACAGTGACT	0.347			Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						65	102	---	---	---	---					
