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	Genome_Change	Annotation_Transcript	Transcript_Strand	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	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	DrugBank	i_ACHILLES_Top_Genes	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CCLE_SEQ_overlapping_mutations	i_CCLE_SEQ_total_mutations_in_gene	MUTSIG_Significant_Genes	OREGANNO_ID	OREGANNO_Values	i_tumor_f	i_init_t_lod	i_t_lod_fstar	i_t_alt_count	i_t_ref_count	i_normal_best_gt	i_failure_reasons	i_judgement	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	dataset	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	type	classification	start	end	gene	chr	ref_allele	tum_allele1	tum_allele2	context_orig	context65	gene_name	newbase	categ	categ_ignoring_null_categ
ANO9	338440	broad.mit.edu	36	11	408746	408746	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0130-01	TCGA-06-0130-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:408746G>A	uc001lpi.2	-	c.2104C>T	c.(2104-2106)CGC>TGC	p.R702C	SIGIRR_uc001lpe.1_5'Flank|SIGIRR_uc001lpf.1_5'Flank|ANO9_uc001lph.2_Missense_Mutation_p.R395C	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN	tumor protein p53 inducible protein 5	702	Extracellular (Potential).					chloride channel complex	chloride channel activity			central_nervous_system(2)|ovary(1)|skin(1)	4														0.1875	32.233578	39.506752	15	65	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	408746	408746	712	11	G	A	A	39	39	ANO9	A	1	1
MYBPC3	4607	broad.mit.edu	36	11	47313218	47313218	+	Silent	SNP	A	C	C			TCGA-06-0130-01	TCGA-06-0130-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr11:47313218A>C	uc001nfa.2	-	c.2856T>G	c.(2854-2856)CCT>CCG	p.P952P		NM_000256	NP_000247	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	951	Fibronectin type-III 2.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			ovary(2)|central_nervous_system(1)	3														0.230769	6.921098	7.782735	3	10	AA		KEEP	---	---	---	---	capture		Lung(87;0.176)	Silent	SNP	47313218	47313218	10408	11	A	C	C	7	7	MYBPC3	C	4	4
HELB	92797	broad.mit.edu	36	12	65011315	65011315	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-0130-01	TCGA-06-0130-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:65011315G>T	uc001sti.2	+	c.2785G>T	c.(2785-2787)GAG>TAG	p.E929*	HELB_uc009zqt.1_Non-coding_Transcript	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	helicase (DNA) B	929					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			central_nervous_system(1)|pancreas(1)	2														0.253623	81.95083	89.56275	35	103	GG		KEEP	---	---	---	---	capture	GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)	Nonsense_Mutation	SNP	65011315	65011315	7328	12	G	T	T	41	41	HELB	T	5	3
RB1	5925	broad.mit.edu	36	13	47937506	47937506	+	Splice_Site_SNP	SNP	G	T	T			TCGA-06-0130-01	TCGA-06-0130-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:47937506G>T	uc001vcb.1	+	c.2489_splice	c.e23+1	p.R830_splice		NM_000321	NP_000312			retinoblastoma 1						androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|transcription repressor activity|ubiquitin protein ligase binding			lung(93)|eye(89)|central_nervous_system(47)|bone(22)|breast(20)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|soft_tissue(8)|prostate(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	355		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)			Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)			6		568	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			0.269841	49.556827	52.56137	17	46	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Splice_Site_SNP	SNP	47937506	47937506	13559	13	G	T	T	44	44	RB1	T	5	3
ZSCAN29	146050	broad.mit.edu	36	15	41445945	41445945	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0130-01	TCGA-06-0130-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:41445945G>A	uc001zrk.1	-	c.877C>T	c.(877-879)CGG>TGG	p.R293W	ZSCAN29_uc001zrj.1_Missense_Mutation_p.R173W|ZSCAN29_uc010bdf.1_Missense_Mutation_p.R292W|ZSCAN29_uc001zrl.1_Non-coding_Transcript|ZSCAN29_uc010bdg.1_Intron|ZSCAN29_uc001zrm.2_Missense_Mutation_p.R292W	NM_152455	NP_689668	Q8IWY8	ZSC29_HUMAN	zinc finger protein 690	293					regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)												0.258065	80.327891	86.919957	32	92	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(94;8.97e-07)	Missense_Mutation	SNP	41445945	41445945	18840	15	G	A	A	39	39	ZSCAN29	A	1	1
FANCI	55215	broad.mit.edu	36	15	87660693	87660693	+	Nonstop_Mutation	SNP	A	C	C			TCGA-06-0130-01	TCGA-06-0130-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr15:87660693A>C	uc010bnp.1	+	c.3986A>C	c.(3985-3987)TAA>TCA	p.*1329S	FANCI_uc002bnm.1_Nonstop_Mutation_p.*1269S|FANCI_uc002bnn.1_Non-coding_Transcript|FANCI_uc002bnp.1_Nonstop_Mutation_p.*1089S|FANCI_uc002bnq.1_Nonstop_Mutation_p.*742S|POLG_uc002bns.2_3'UTR|POLG_uc002bnr.2_3'UTR	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I isoform	1329					cell cycle|DNA repair	nucleoplasm	protein binding			ovary(2)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)									1164				0.384615	35.445229	35.748291	10	16	AA		KEEP	---	---	---	---	capture			Nonstop_Mutation	SNP	87660693	87660693	5905	15	A	C	C	13	13	FANCI	C	5	4
CHST5	23563	broad.mit.edu	36	16	74121428	74121428	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0130-01	TCGA-06-0130-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:74121428C>T	uc002fej.1	-	c.374G>A	c.(373-375)CGC>CAC	p.R125H	CHST5_uc002fei.1_Missense_Mutation_p.R119H|CHST5_uc010cgw.1_Missense_Mutation_p.R119H	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	119	Lumenal (Potential).				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0														0.256098	52.738105	57.16078	21	61	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	74121428	74121428	3541	16	C	T	T	27	27	CHST5	T	1	1
KARS	3735	broad.mit.edu	36	16	74227943	74227943	+	Missense_Mutation	SNP	C	G	G			TCGA-06-0130-01	TCGA-06-0130-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:74227943C>G	uc002fer.1	-	c.476G>C	c.(475-477)AGG>ACG	p.R159T	KARS_uc002feq.1_Missense_Mutation_p.R131T|KARS_uc002fes.1_5'UTR|KARS_uc010cgz.1_5'UTR	NM_005548	NP_005539	Q15046	SYK_HUMAN	lysyl-tRNA synthetase isoform 2	131					interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding			ovary(2)	2					L-Lysine(DB00123)									0.23301	133.09376	146.535657	48	158	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	74227943	74227943	8284	16	C	G	G	24	24	KARS	G	3	3
TP53	7157	broad.mit.edu	36	17	7519182	7519182	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0130-01	TCGA-06-0130-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7519182C>T	uc002gim.2	-	c.473G>A	c.(472-474)CGC>CAC	p.R158H	TP53_uc002gig.1_Missense_Mutation_p.R158H|TP53_uc002gih.1_Missense_Mutation_p.R158H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R26H|TP53_uc010cng.1_Missense_Mutation_p.R26H|TP53_uc002gii.1_Missense_Mutation_p.R26H|TP53_uc010cnh.1_Missense_Mutation_p.R158H|TP53_uc010cni.1_Missense_Mutation_p.R158H|TP53_uc002gij.2_Missense_Mutation_p.R158H|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R65H|TP53_uc002gio.2_Missense_Mutation_p.R26H	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	158	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of gene-specific transcription from RNA polymerase II promoter|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 gene-specific transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	chromatin|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|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|promoter binding|promoter binding|protease binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin protein ligase binding|zinc ion binding	p.R158H(55)|p.R158L(51)|p.R158P(9)|p.0?(6)|p.R158_A159insX(4)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R158fs*11(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.R158C(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(1)|p.R158fs*8(1)		large_intestine(4614)|breast(2344)|upper_aerodigestive_tract(2150)|lung(1958)|ovary(1559)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1212)|stomach(1127)|urinary_tract(1113)|central_nervous_system(1072)|liver(805)|skin(693)|pancreas(370)|biliary_tract(247)|soft_tissue(209)|prostate(192)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(41)|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)	21904		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)				Pancreas(47;798 1329 9957 10801)		111	p.R158H(MOLT16-Tumor)|p.R158L(NCIH747-Tumor)|p.R158P(NCIH2110-Tumor)|p.R158L(NCIH661-Tumor)|p.R158L(NCIH441-Tumor)|p.R158H(ST486-Tumor)	690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.303797	62.969847	65.68404	24	55	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Missense_Mutation	SNP	7519182	7519182	16923	17	C	T	T	27	27	TP53	T	1	1
FASN	2194	broad.mit.edu	36	17	77636807	77636807	+	Missense_Mutation	SNP	G	C	C			TCGA-06-0130-01	TCGA-06-0130-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:77636807G>C	uc002kdu.1	-	c.3962C>G	c.(3961-3963)GCC>GGC	p.A1321G	FASN_uc002kdw.1_Missense_Mutation_p.A537G	NM_004104	NP_004095	P49327	FAS_HUMAN	fatty acid synthase	1321					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)				Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	Colon(59;314 1043 11189 28578 32273)				1201				0.333333	6.91776	7.255251	4	8	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Missense_Mutation	SNP	77636807	77636807	5919	17	G	C	C	42	42	FASN	C	3	3
ZNF578	147660	broad.mit.edu	36	19	57706156	57706156	+	Missense_Mutation	SNP	G	T	T			TCGA-06-0130-01	TCGA-06-0130-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:57706156G>T	uc002pzp.2	+	c.710G>T	c.(709-711)GGC>GTC	p.G237V		NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	zinc finger protein 578	12	C2H2-type 1; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.143885	33.101997	50.08031	20	119	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)	Missense_Mutation	SNP	57706156	57706156	18605	19	G	T	T	42	42	ZNF578	T	3	3
LAIR1	3903	broad.mit.edu	36	19	59567745	59567745	+	Silent	SNP	G	A	A			TCGA-06-0130-01	TCGA-06-0130-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:59567745G>A	uc002qfk.1	-	c.39C>T	c.(37-39)CTC>CTT	p.L13L	LAIR1_uc002qfl.1_Silent_p.L13L|LAIR1_uc002qfm.1_Silent_p.L13L|LAIR1_uc002qfn.1_Silent_p.L13L|LAIR1_uc002qfo.1_Intron	NM_002287	NP_002278	Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like	13						integral to membrane|plasma membrane	protein binding|receptor activity			ovary(4)	4	Ovarian(34;0.19)													0.247312	57.479441	62.883473	23	70	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(193;0.0573)	Silent	SNP	59567745	59567745	8925	19	G	A	A	33	33	LAIR1	A	2	2
CLCN6	1185	broad.mit.edu	36	1	11819717	11819717	+	Missense_Mutation	SNP	G	C	C			TCGA-06-0130-01	TCGA-06-0130-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:11819717G>C	uc001ate.2	+	c.2055G>C	c.(2053-2055)GAG>GAC	p.E685D		NM_001286	NP_001277	P51797	CLCN6_HUMAN	chloride channel 6 isoform ClC-6a	685	Cytoplasmic (By similarity).				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity				0	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)												0.197368	38.375801	44.86614	15	61	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Missense_Mutation	SNP	11819717	11819717	3603	1	G	C	C	34	34	CLCN6	C	3	3
CACNA1E	777	broad.mit.edu	36	1	179966988	179966988	+	Missense_Mutation	SNP	C	A	A			TCGA-06-0130-01	TCGA-06-0130-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:179966988C>A	uc001gow.1	+	c.2295C>A	c.(2293-2295)CAC>CAA	p.H765Q	CACNA1E_uc009wxs.1_Intron|CACNA1E_uc001gox.1_5'Flank|CACNA1E_uc009wxt.1_5'Flank	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	765	Cytoplasmic (Potential).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6														0.166667	17.64471	23.330483	9	45	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	179966988	179966988	2658	1	C	A	A	18	18	CACNA1E	A	3	3
CSMD2	114784	broad.mit.edu	36	1	33807596	33807596	+	Missense_Mutation	SNP	T	C	C			TCGA-06-0130-01	TCGA-06-0130-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:33807596T>C	uc001bxm.1	-	c.8096A>G	c.(8095-8097)AAT>AGT	p.N2699S	CSMD2_uc001bxn.1_Missense_Mutation_p.N2701S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2701	Sushi 17.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(5)|pancreas(1)	6		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)												0.214953	60.368229	68.39231	23	84	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33807596	33807596	4086	1	T	C	C	52	52	CSMD2	C	4	4
KIF16B	55614	broad.mit.edu	36	20	16444298	16444298	+	Silent	SNP	G	A	A			TCGA-06-0130-01	TCGA-06-0130-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:16444298G>A	uc010gci.1	-	c.243C>T	c.(241-243)ACC>ACT	p.T81T	KIF16B_uc002wpg.1_Silent_p.T81T|KIF16B_uc010gch.1_Silent_p.T81T|KIF16B_uc010gcj.1_Silent_p.T81T	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	kinesin-like motor protein C20orf23	81	Kinesin-motor.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7														0.115385	12.320233	23.682868	9	69	GG		KEEP	---	---	---	---	capture			Silent	SNP	16444298	16444298	8589	20	G	A	A	43	43	KIF16B	A	2	2
PTPRA	5786	broad.mit.edu	36	20	2951414	2951414	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0130-01	TCGA-06-0130-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:2951414G>A	uc002whj.1	+	c.1408G>A	c.(1408-1410)GTG>ATG	p.V470M	PTPRA_uc002whk.1_Missense_Mutation_p.V461M|PTPRA_uc002whl.1_Missense_Mutation_p.V461M|PTPRA_uc002whm.1_Missense_Mutation_p.V237M|PTPRA_uc002whn.1_Missense_Mutation_p.V461M|PTPRA_uc002who.1_Missense_Mutation_p.V133M	NM_002836	NP_002827	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	470	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity				0														0.241379	50.853759	56.147412	21	66	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	2951414	2951414	13252	20	G	A	A	40	40	PTPRA	A	1	1
WFDC8	90199	broad.mit.edu	36	20	43615201	43615201	+	Missense_Mutation	SNP	T	C	C			TCGA-06-0130-01	TCGA-06-0130-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr20:43615201T>C	uc002xow.1	-	c.574A>G	c.(574-576)AGG>GGG	p.R192G	WFDC8_uc002xox.1_Missense_Mutation_p.R192G	NM_181510	NP_852611	Q8IUA0	WFDC8_HUMAN	WAP four-disulfide core domain 8 precursor	192	WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity				0		Myeloproliferative disorder(115;0.0122)												0.19708	68.549352	80.255877	27	110	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43615201	43615201	17930	20	T	C	C	55	55	WFDC8	C	4	4
TPTE	7179	broad.mit.edu	36	21	9973142	9973142	+	Silent	SNP	T	A	A			TCGA-06-0130-01	TCGA-06-0130-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr21:9973142T>A	uc002yip.1	-	c.441A>T	c.(439-441)GTA>GTT	p.V147V	TPTE_uc002yiq.1_Silent_p.V129V|TPTE_uc002yir.1_Silent_p.V109V|TPTE_uc010gkv.1_Silent_p.V9V|TPTE_uc002yis.1_Non-coding_Transcript	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	147	Helical; (Potential).				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5														0.125874	25.548881	45.090312	18	125	TT		KEEP	---	---	---	---	capture	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	Silent	SNP	9973142	9973142	16974	21	T	A	A	53	53	TPTE	A	4	4
TTN	7273	broad.mit.edu	36	2	179167014	179167014	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0130-01	TCGA-06-0130-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179167014C>T	uc002umr.1	-	c.50648G>A	c.(50647-50649)CGT>CAT	p.R16883H	TTN_uc002ums.1_Missense_Mutation_p.R10578H|TTN_uc010frc.1_Missense_Mutation_p.R10511H|TTN_uc010frd.1_Missense_Mutation_p.R10386H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	17810										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										8722				0.2657	143.635872	153.90097	55	152	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		Missense_Mutation	SNP	179167014	179167014	17290	2	C	T	T	19	19	TTN	T	1	1
ARMC8	25852	broad.mit.edu	36	3	139474579	139474579	+	Silent	SNP	A	G	G			TCGA-06-0130-01	TCGA-06-0130-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:139474579A>G	uc003esa.1	+	c.1518A>G	c.(1516-1518)TTA>TTG	p.L506L	ARMC8_uc003esb.1_Silent_p.L478L|ARMC8_uc003esc.1_Silent_p.L278L|TXNDC6_uc003esd.1_Intron|TXNDC6_uc010huf.1_Intron|TXNDC6_uc003ese.1_Intron|ARMC8_uc003esf.1_Silent_p.L89L	NM_015396	NP_056211	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8 isoform 2	520	ARM 11.						binding				0														0.211864	71.117753	80.167362	25	93	AA		KEEP	---	---	---	---	capture			Silent	SNP	139474579	139474579	975	3	A	G	G	16	16	ARMC8	G	4	4
CX3CR1	1524	broad.mit.edu	36	3	39282440	39282440	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0130-01	TCGA-06-0130-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:39282440C>T	uc003cjl.1	-	c.565G>A	c.(565-567)GTG>ATG	p.V189M	CX3CR1_uc010hhq.1_Missense_Mutation_p.V189M	NM_001337	NP_001328	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	189	Extracellular (Potential).				cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity				0														0.20603	90.167781	106.115191	41	158	CC		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)	Missense_Mutation	SNP	39282440	39282440	4235	3	C	T	T	19	19	CX3CR1	T	1	1
KIAA0922	23240	broad.mit.edu	36	4	154736935	154736935	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0130-01	TCGA-06-0130-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:154736935G>A	uc003inm.2	+	c.2068G>A	c.(2068-2070)GTA>ATA	p.V690I	KIAA0922_uc010ipp.1_Missense_Mutation_p.V691I|KIAA0922_uc010ipq.1_Missense_Mutation_p.V459I|KIAA0922_uc010ipr.1_Missense_Mutation_p.V543I	NM_015196	NP_056011	A2VDJ0	T131L_HUMAN	hypothetical protein LOC23240 isoform 2	690	Extracellular (Potential).					integral to membrane				ovary(1)	1	all_hematologic(180;0.093)	Renal(120;0.118)												0.206573	98.589866	115.583156	44	169	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	154736935	154736935	8508	4	G	A	A	40	40	KIAA0922	A	1	1
TEC	7006	broad.mit.edu	36	4	47835701	47835701	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0130-01	TCGA-06-0130-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:47835701C>T	uc003gxz.1	-	c.1631G>A	c.(1630-1632)AGC>AAC	p.S544N		NM_003215	NP_003206	P42680	TEC_HUMAN	tec protein tyrosine kinase	544	Protein kinase.				intracellular protein kinase cascade|protein phosphorylation	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(4)|ovary(1)	5										498				0.278846	79.123525	83.703413	29	75	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47835701	47835701	16269	4	C	T	T	28	28	TEC	T	2	2
C5orf36	285600	broad.mit.edu	36	5	93881825	93881825	+	Missense_Mutation	SNP	T	G	G			TCGA-06-0130-01	TCGA-06-0130-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:93881825T>G	uc003kkp.1	-	c.854A>C	c.(853-855)GAA>GCA	p.E285A		NM_173665	NP_775936	Q8IV33	K0825_HUMAN	hypothetical protein LOC285600	285											0		all_cancers(142;2.12e-08)|all_epithelial(76;5.95e-11)|all_lung(232;0.000996)|Lung NSC(167;0.0108)|Ovarian(174;0.0218)|Colorectal(57;0.0329)|Breast(839;0.214)|Lung SC(612;0.236)												0.233871	81.194826	89.250457	29	95	TT		KEEP	---	---	---	---	capture		all cancers(79;3.96e-19)	Missense_Mutation	SNP	93881825	93881825	2393	5	T	G	G	62	62	C5orf36	G	4	4
COL12A1	1303	broad.mit.edu	36	6	75854130	75854130	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0130-01	TCGA-06-0130-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:75854130G>A	uc010kbb.1	-	c.9064C>T	c.(9064-9066)CCC>TCC	p.P3022S	COL12A1_uc010kbc.1_Missense_Mutation_p.P1858S|COL12A1_uc003phs.1_Missense_Mutation_p.P3022S|COL12A1_uc003pht.1_Missense_Mutation_p.P1858S	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	3022	Triple-helical region (COL1) with 2 imperfections.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)	8														0.25	68.336623	74.431062	27	81	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	75854130	75854130	3807	6	G	A	A	41	41	COL12A1	A	2	2
MEST	4232	broad.mit.edu	36	7	129926953	129926953	+	Silent	SNP	T	A	A			TCGA-06-0130-01	TCGA-06-0130-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:129926953T>A	uc003vqg.1	+	c.537T>A	c.(535-537)GGT>GGA	p.G179G	MEST_uc003vqc.1_Silent_p.G170G|MEST_uc003vqd.1_Silent_p.G170G|MEST_uc003vqf.1_Silent_p.G170G|MEST_uc010lmg.1_Silent_p.G179G	NM_002402	NP_803491	Q5EB52	MEST_HUMAN	mesoderm specific transcript isoform a	179					mesoderm development	endoplasmic reticulum membrane|integral to membrane	hydrolase activity|protein binding			ovary(2)	2	Melanoma(18;0.0435)					Colon(126;2182 2305 6517 35181)								0.180645	57.215994	72.07035	28	127	TT		KEEP	---	---	---	---	capture			Silent	SNP	129926953	129926953	9873	7	T	A	A	57	57	MEST	A	4	4
OR2F2	135948	broad.mit.edu	36	7	143263629	143263629	+	Missense_Mutation	SNP	T	G	G			TCGA-06-0130-01	TCGA-06-0130-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:143263629T>G	uc003wdq.1	+	c.371T>G	c.(370-372)GTG>GGG	p.V124G		NM_001004685	NP_001004685	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F,	124	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3	Melanoma(164;0.0903)													0.118919	34.832546	61.197997	22	163	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	143263629	143263629	11403	7	T	G	G	59	59	OR2F2	G	4	4
TRIM14	9830	broad.mit.edu	36	9	99889728	99889728	+	Missense_Mutation	SNP	C	G	G			TCGA-06-0130-01	TCGA-06-0130-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:99889728C>G	uc004ayd.1	-	c.1174G>C	c.(1174-1176)GGC>CGC	p.G392R	TRIM14_uc004ayf.1_Missense_Mutation_p.G299R|TRIM14_uc004ayg.1_Missense_Mutation_p.G392R|TRIM14_uc004ayh.1_Missense_Mutation_p.G392R|TRIM14_uc004ayi.1_Intron|TRIM14_uc004ayj.1_Missense_Mutation_p.G299R	NM_033220	NP_150089	Q14142	TRI14_HUMAN	tripartite motif protein TRIM14 isoform alpha	392	B30.2/SPRY.			RLRPRDDLDRLGVFLDYEAGVLAFYDVTGGMSHLHTFRATF QEPLYPALRLWEGAISIPRLP -> ACGPATTSTGSASSWT TRPASSPSTT (in Ref. 2; BAA09478).		cytoplasm|intracellular	zinc ion binding			central_nervous_system(1)	1		Acute lymphoblastic leukemia(62;0.0559)				Colon(14;460 597 13826 51781)								0.230769	6.317399	7.181869	3	10	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	99889728	99889728	17033	9	C	G	G	23	23	TRIM14	G	3	3
STARD8	9754	broad.mit.edu	36	X	67858645	67858645	+	Missense_Mutation	SNP	C	G	G			TCGA-06-0130-01	TCGA-06-0130-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:67858645C>G	uc004dxb.1	+	c.2491C>G	c.(2491-2493)CCA>GCA	p.P831A	STARD8_uc004dxa.1_Missense_Mutation_p.P751A|STARD8_uc004dxc.2_Missense_Mutation_p.P751A	NM_014725	NP_055540	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain	751	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			breast(3)|ovary(2)|pancreas(1)	6														0.333333	9.093	9.389715	4	8	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	67858645	67858645	15782	23	C	G	G	26	26	STARD8	G	3	3
