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
OR2T8	343172	broad.mit.edu	37	1	248084558	248084558	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr1:248084558C>T	ENST00000319968.4	+	1	239	c.239C>T	c.(238-240)gCg>gTg	p.A80V		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A80G(1)|p.A80V(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCCAAAATGGCGGCTGACTAC	0.577000													5	87					0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62045515	62045515	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr17:62045515C>T	ENST00000578147.1	-	6	980	c.904G>A	c.(904-906)Ggc>Agc	p.G302S	SCN4A_ENST00000435607.1_Missense_Mutation_p.G302S			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	302					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GTGTCATTGCCGTACCACGTG	0.552000													7	145					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32063700	32063700	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr6:32063700C>T	ENST00000375244.3	-	3	2131	c.1930G>A	c.(1930-1932)Ggc>Agc	p.G644S	TNXB_ENST00000479795.1_Missense_Mutation_p.G644S|TNXB_ENST00000375247.2_Missense_Mutation_p.G644S			P22105	TENX_HUMAN	tenascin XB	644	EGF-like 16.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CAGGTAGGGCCGGTGTAGCCT	0.687000													8	11					0	0	1	0	0
DGKB	1607	broad.mit.edu	37	7	14647098	14647098	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr7:14647098C>T	ENST00000403951.2	-	17	1816	c.1397G>A	c.(1396-1398)cGt>cAt	p.R466H	DGKB_ENST00000406247.3_Missense_Mutation_p.R466H|DGKB_ENST00000258767.5_Missense_Mutation_p.R466H|DGKB_ENST00000399322.3_Missense_Mutation_p.R466H|DGKB_ENST00000407950.1_Missense_Mutation_p.R458H|DGKB_ENST00000444700.2_Missense_Mutation_p.R447H|DGKB_ENST00000402815.1_Missense_Mutation_p.R465H|DGKB_ENST00000403963.1_5'UTR			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	466	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	GTAAACCTGACGAGGATTTAA	0.279000													5	26					0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14359623	14359623	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr5:14359623G>A	ENST00000344204.4	+	13	2398	c.2374G>A	c.(2374-2376)Gag>Aag	p.E792K	TRIO_ENST00000537187.1_Missense_Mutation_p.E792K|TRIO_ENST00000509967.2_Missense_Mutation_p.E743K	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	792					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GCGCATCTTCGAGAGGGACGC	0.662000													10	53					0	0	1	0	0
FAM217B	63939	broad.mit.edu	37	20	58519366	58519366	+	Missense_Mutation	SNP	A	A	G			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr20:58519366A>G	ENST00000358293.3	+	5	783	c.368A>G	c.(367-369)gAt>gGt	p.D123G	FAM217B_ENST00000360816.3_Missense_Mutation_p.D123G|FAM217B_ENST00000469084.1_Intron	NM_001190826.1	NP_001177755.1	Q9NTX9	CT177_HUMAN	family with sequence similarity 217, member B	123																	GAAGAAATTGATCCAGTTTAC	0.458000													27	46					0	0	1	0	0
IRS1	3667	broad.mit.edu	37	2	227659846	227659846	+	Silent	SNP	T	T	G			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr2:227659846T>G	ENST00000305123.5	-	1	4629	c.3609A>C	c.(3607-3609)ccA>ccC	p.P1203P	IRS1_ENST00000498335.1_5'UTR	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1		Pro-rich.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GGGGTGGGGGTGGGGGAGGCT	0.582000													5	20					0	0	1	0	0
FARP2	9855	broad.mit.edu	37	2	242373718	242373718	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr2:242373718G>A	ENST00000264042.3	+	10	1183	c.1013G>A	c.(1012-1014)gGc>gAc	p.G338D	FARP2_ENST00000373287.4_Missense_Mutation_p.G338D|FARP2_ENST00000545004.1_Missense_Mutation_p.G338D	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	338					axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		TTCAGCCGGGGCTCCTCCTTC	0.463000													4	41					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38968362	38968362	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr19:38968362G>A	ENST00000355481.4	+	30	4437	c.4306G>A	c.(4306-4308)Gtg>Atg	p.V1436M	RYR1_ENST00000359596.3_Missense_Mutation_p.V1436M|RYR1_ENST00000360985.3_Missense_Mutation_p.V1436M	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1436	6 X approximate repeats.|B30.2/SPRY 3.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTATTACTCCGTGAGGGTCTT	0.587000													10	25					0	0	1	0	0
MOV10L1	54456	broad.mit.edu	37	22	50555697	50555697	+	Silent	SNP	C	C	T	rs144983844		TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr22:50555697C>T	ENST00000262794.5	+	9	1454	c.1371C>T	c.(1369-1371)cgC>cgT	p.R457R	MOV10L1_ENST00000540615.1_Silent_p.R437R|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000545383.1_Silent_p.R457R|MOV10L1_ENST00000395858.3_Silent_p.R457R	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	457					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TTGCTGCGCGCGAACCATTTT	0.428000													18	67					0	0	1	0	0
OR8I2	120586	broad.mit.edu	37	11	55861284	55861284	+	Silent	SNP	G	G	A			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr11:55861284G>A	ENST00000302124.2	+	1	532	c.501G>A	c.(499-501)gcG>gcA	p.A167A		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					GCAGTTTGGCGTTCTGTGATT	0.443000													4	119					0	0	1	0	0
ARSE	415	broad.mit.edu	37	X	2856153	2856153	+	Silent	SNP	G	G	A			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chrX:2856153G>A	ENST00000545496.1	-	10	1638	c.1347C>T	c.(1345-1347)ggC>ggT	p.G449G	ARSE_ENST00000540563.1_Silent_p.G379G|ARSE_ENST00000381134.3_Silent_p.G424G	NM_001282628.1	NP_001269557.1	P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	424					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGGGCACCTCGCCGCCCGCCA	0.597000													3	39					0	0	1	0	0
MOGAT2	80168	broad.mit.edu	37	11	75438518	75438518	+	Nonsense_Mutation	SNP	C	C	A			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr11:75438518C>A	ENST00000526712.1	+	2	836	c.63C>A	c.(61-63)taC>taA	p.Y21*	MOGAT2_ENST00000198801.5_Nonsense_Mutation_p.Y103*			Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	103					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					CTCGGAACTACATTGCGGGCT	0.632000													3	33					0.115264	0.115264	1	1	0
IGHV1-58	0	broad.mit.edu	37	14	107078510	107078510	+	RNA	SNP	C	C	T			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr14:107078510C>T	ENST00000390628.2	-	0	274																											CCACTGCCAACGACGATCCAT	0.532000													25	90					0	0	1	0	0
TPR	7175	broad.mit.edu	37	1	186304579	186304579	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr1:186304579G>A	ENST00000367478.4	-	34	5098	c.4802C>T	c.(4801-4803)gCg>gTg	p.A1601V		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein						carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	p.A1602V(1)|p.A1601V(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		GGACTTTAGCGCAGTAATGCG	0.423000			T	NTRK1	papillary thyroid								7	109					0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117849182	117849182	+	Silent	SNP	G	G	A			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr9:117849182G>A	ENST00000350763.4	-	3	1239	c.828C>T	c.(826-828)ggC>ggT	p.G276G	TNC_ENST00000537320.1_Silent_p.G276G|TNC_ENST00000535648.1_Silent_p.G276G|TNC_ENST00000341037.4_Silent_p.G276G|TNC_ENST00000346706.3_Silent_p.G276G|TNC_ENST00000345230.3_Silent_p.G276G|TNC_ENST00000340094.3_Silent_p.G276G|TNC_ENST00000423613.2_Silent_p.G276G|TNC_ENST00000542877.1_Silent_p.G276G	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	276	EGF-like 4.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TGCAGTCATCGCCTGCAAAGC	0.567000													7	60					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10369613	10369613	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr17:10369613G>A	ENST00000255381.2	-	4	435	c.325C>T	c.(325-327)Cgt>Tgt	p.R109C	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	109	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCTGCGTAACGCTCTTTGAGG	0.458000													3	56					0	0	1	0	0
DNM1P47	0	broad.mit.edu	37	15	102292811	102292811	+	RNA	SNP	C	C	A			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr15:102292811C>A	ENST00000561463.1	+	0	857																		p.R133R(1)									CCTGCACTCGCGTGGGAACGA	0.607000													4	20					0.000602214	0.000637639	1	1	0
GLIS1	148979	broad.mit.edu	37	1	53995493	53995493	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr1:53995493C>T	ENST00000312233.2	-	4	1494	c.928G>A	c.(928-930)Gcc>Acc	p.A310T		NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	310					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						TGGTGCTTGGCGCGGTCGCTG	0.647000													3	64					0	0	1	0	0
PRPF40B	25766	broad.mit.edu	37	12	50025308	50025308	+	Missense_Mutation	SNP	C	C	T	rs149751647		TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr12:50025308C>T	ENST00000261897.1	+	2	676	c.125C>T	c.(124-126)gCg>gTg	p.A42V	PRPF40B_ENST00000380281.1_Missense_Mutation_p.A48V|PRPF40B_ENST00000548825.2_Missense_Mutation_p.A70V			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	48	Pro-rich.				mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CCAATGGGGGCGCCACCACCA	0.612000													14	50					0	0	1	0	0
IVD	3712	broad.mit.edu	37	15	40707600	40707600	+	Splice_Site	SNP	G	G	A			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr15:40707600G>A	ENST00000249760.2	+	9	1222	c.879G>A	c.(877-879)ggG>ggA	p.G293G	IVD_ENST00000479013.2_Splice_Site_p.G266G|IVD_ENST00000487418.2_Splice_Site_p.G296G	NM_002225.3	NP_002216.2	P26440	IVD_HUMAN	isovaleryl-CoA dehydrogenase	293					leucine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity			kidney(1)|lung(5)|ovary(2)|prostate(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)		TTTCTGACAGGCTCATGCAAG	0.602000													3	28					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr17:7577094G>A	ENST00000420246.2	-	8	976	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000269305.4_Missense_Mutation_p.R282W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		TCTGTGCGCCGGTCTCTCCCA	0.557000		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)			4	11					0	0	1	0	0
PCDHGA1	0	broad.mit.edu	37	5	140712483	140712483	+	Silent	SNP	C	C	T			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr5:140712483C>T	ENST00000517417.1	+	1	2232	c.2232C>T	c.(2230-2232)gaC>gaT	p.D744D	PCDHGA1_ENST00000378105.3_Silent_p.D744D	NM_018912.2	NP_061735.1												p.D744D(3)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGCGTGGACGGGGTTCGGG	0.637000													24	86					0	0	1	0	0
TBC1D2B	23102	broad.mit.edu	37	15	78290635	78290635	+	Missense_Mutation	SNP	C	C	T	rs117285325	by1000genomes	TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr15:78290635C>T	ENST00000409931.3	-	13	2778	c.2707G>A	c.(2707-2709)Gac>Aac	p.D903N	TBC1D2B_ENST00000492078.1_5'UTR|TBC1D2B_ENST00000300584.3_Missense_Mutation_p.R920Q			Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	0						intracellular	protein binding|Rab GTPase activator activity	p.D903N(3)|p.R920Q(1)		breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						GTAGGCGCGTCGGTTCCGGAT	0.617000													3	9					0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	66980239	66980239	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr17:66980239G>A	ENST00000340001.4	-	35	4668	c.4457C>T	c.(4456-4458)gCg>gTg	p.A1486V	ABCA9_ENST00000370732.2_3'UTR|ABCA9_ENST00000453985.2_Missense_Mutation_p.A1448V	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1486	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GTCACACACCGCCTCAGCCTC	0.572000													9	38					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155157233	155157233	+	Missense_Mutation	SNP	T	T	A			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr4:155157233T>A	ENST00000357232.4	-	25	7205	c.7206A>T	c.(7204-7206)aaA>aaT	p.K2402N		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 21.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TTGCATCACCTTTGTCTTTGG	0.428000													6	95					0	0	1	0	0
EMX1	2016	broad.mit.edu	37	2	73161021	73161021	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr2:73161021C>T	ENST00000258106.6	+	3	1189	c.811C>T	c.(811-813)Cgg>Tgg	p.R271W	EMX1_ENST00000394111.5_3'UTR	NM_004097.2	NP_004088.2	Q04741	EMX1_HUMAN	empty spiracles homeobox 1	238						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(2)|lung(3)	6						TCACATCAACCGGTGGCGCAT	0.582000													11	25					0	0	1	0	0
INHBE	83729	broad.mit.edu	37	12	57849952	57849952	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr12:57849952G>A	ENST00000266646.2	+	2	590	c.374G>A	c.(373-375)cGc>cAc	p.R125H	INHBE_ENST00000551553.1_3'UTR	NM_031479.3	NP_113667.1	P58166	INHBE_HUMAN	inhibin, beta E	125					growth	extracellular region	growth factor activity|hormone activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						TACCATGCCCGCCTGTGGCTG	0.602000											OREG0021944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	77					0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1043361	1043361	+	Silent	SNP	C	C	T			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr19:1043361C>T	ENST00000263094.6	+	9	1050	c.819C>T	c.(817-819)gcC>gcT	p.A273A	ABCA7_ENST00000433129.1_Silent_p.A273A|ABCA7_ENST00000435683.2_Silent_p.A135A	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	273					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		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)		TGATTGGAGCCCTGGACAGCC	0.642000													12	37					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92534952	92534952	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr11:92534952G>A	ENST00000298047.6	+	9	8790	c.8773G>A	c.(8773-8775)Gcg>Acg	p.A2925T	FAT3_ENST00000409404.2_Missense_Mutation_p.A2925T|FAT3_ENST00000525166.1_Missense_Mutation_p.A2775T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2925	Cadherin 27.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.A2925T(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACCAGTCTTCGCGCAGGAAGT	0.562000										TCGA Ovarian(4;0.039)			4	77					0	0	1	0	0
POLR1B	84172	broad.mit.edu	37	2	113300244	113300244	+	Missense_Mutation	SNP	T	T	A			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr2:113300244T>A	ENST00000263331.5	+	1	753	c.173T>A	c.(172-174)gTg>gAg	p.V58E	POLR1B_ENST00000537335.1_5'UTR|POLR1B_ENST00000417433.2_Missense_Mutation_p.V58E|POLR1B_ENST00000541869.1_Missense_Mutation_p.V96E|POLR1B_ENST00000409894.3_Missense_Mutation_p.V58E	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	58					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						GGCCTCGCGGTGCAGGTGAGC	0.677000													4	7					0	0	1	0	0
ANKRD1	27063	broad.mit.edu	37	10	92677496	92677496	+	Missense_Mutation	SNP	C	C	A			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr10:92677496C>A	ENST00000371697.3	-	5	793	c.545G>T	c.(544-546)cGt>cTt	p.R182L		NM_014391.2	NP_055206.2	Q15327	ANKR1_HUMAN	ankyrin repeat domain 1 (cardiac muscle)	182					cellular lipid metabolic process|defense response|signal transduction		DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27		Colorectal(252;0.0475)				TACCATATCACGGAATTCGAT	0.413000													10	21					7.48243e-07	8.16265e-07	1	1	0
HSPA8	3312	broad.mit.edu	37	11	122930969	122930969	+	Missense_Mutation	SNP	G	G	T	rs141156763	by1000genomes	TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr11:122930969G>T	ENST00000534624.1	-	4	695	c.419C>A	c.(418-420)aCc>aAc	p.T140N	HSPA8_ENST00000227378.3_Missense_Mutation_p.T140N|HSPA8_ENST00000526110.1_Intron|HSPA8_ENST00000533540.1_Intron|HSPA8_ENST00000532636.1_Missense_Mutation_p.T140N|HSPA8_ENST00000534319.1_5'UTR|HSPA8_ENST00000453788.2_Missense_Mutation_p.T140N	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	140					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CACAGCATTGGTAACAGTCTA	0.393000													8	77					0.0477658	0.0491305	1	1	0
POLQ	10721	broad.mit.edu	37	3	121207488	121207489	+	Frame_Shift_Ins	INS	-	-	A			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr3:121207488_121207489insA	ENST00000264233.5	-	16	4417_4418	c.4289_4290insT	c.(4288-4290)ttafs	p.L1430fs		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1430					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CATTCTTTTTTAAAAAAAGACC	0.342								DNA polymerases (catalytic subunits)					12	58	---	---	---	---					
TCERG1	10915	broad.mit.edu	37	5	145849150	145849151	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr5:145849150_145849151insCC	ENST00000296702.5	+	7	1280_1281	c.1242_1243insCC	c.(1243-1245)cccfs	p.P415fs	TCERG1_ENST00000394421.2_Frame_Shift_Ins_p.P394fs	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	415					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCATGATACATCCCCAGGTTGC	0.386													54	156	---	---	---	---					
CTC-338M12.9	0	broad.mit.edu	37	5	180708776	180708777	+	RNA	INS	-	-	G	rs140221514		TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr5:180708776_180708777insG	ENST00000412295.2	+	0	238																											gggcggtaggagggggctggag	0.728													5	3	---	---	---	---					
XKR5	389610	broad.mit.edu	37	8	6679301	6679302	+	RNA	DEL	CA	CA	-			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr8:6679301_6679302delCA	ENST00000518724.1	-	0	958							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		TGCATTGGTGcacacacacaca	0.401													2	4	---	---	---	---					
EMG1	10436	broad.mit.edu	37	12	7080210	7080211	+	Splice_Site	INS	-	-	G	rs141646579	by1000genomes	TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr12:7080210_7080211insG	ENST00000261406.6	+	2	266		c.e2-1		EMG1_ENST00000546220.1_3'UTR	NM_006331.7	NP_006322.4	Q92979	NEP1_HUMAN	EMG1 N1-specific pseudouridine methyltransferase						ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										CGGAGGCCGTAGTTTATTGTGG	0.569													6	9	---	---	---	---					
TCF20	6942	broad.mit.edu	37	22	42605693	42605694	+	Frame_Shift_Ins	INS	-	-	T			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr22:42605693_42605694insT	ENST00000359486.3	-	1	5754_5755	c.5618_5619insA	c.(5617-5619)tatfs	p.Y1873fs	TCF20_ENST00000404876.1_Frame_Shift_Ins_p.Y174fs|TCF20_ENST00000335626.4_Frame_Shift_Ins_p.Y1873fs	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1873					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CCTGCAGGCCATAGAGCCTGCC	0.446													8	195	---	---	---	---					
