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
FRG1B	0	broad.mit.edu	37	20	29628236	29628236	+	Missense_Mutation	SNP	G	G	C	rs145412486	by1000genomes	TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr20:29628236G>C	ENST00000278882.3	+	6	618	c.238G>C	c.(238-240)Gct>Cct	p.A80P	FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P|FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P														p.A80P(8)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGGAAAATGGCTTTGTTGGC	0.363000													6	81					0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	68535239	68535239	+	Missense_Mutation	SNP	T	T	C			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr10:68535239T>C	ENST00000433211.1	-	8	1265	c.1091A>G	c.(1090-1092)gAc>gGc	p.D364G	CTNNA3_ENST00000373744.4_Missense_Mutation_p.D364G|CTNNA3_ENST00000494580.1_5'UTR	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	364					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						ACACATGTTGTCTAAAGCAAT	0.378000													52	78					0	0	1	0	0
SCNN1G	6340	broad.mit.edu	37	16	23197720	23197720	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr16:23197720G>A	ENST00000300061.2	+	2	271	c.128G>A	c.(127-129)cGc>cAc	p.R43H		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	43					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	GGCTGTCGCCGCATCGTGGTG	0.627000													3	36					0	0	1	0	0
EEF1A2	1917	broad.mit.edu	37	20	62120282	62120282	+	Missense_Mutation	SNP	T	T	G			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr20:62120282T>G	ENST00000217182.3	-	7	1418	c.1253A>C	c.(1252-1254)tAc>tCc	p.Y418S	EEF1A2_ENST00000298049.7_Missense_Mutation_p.Y418S	NM_001958.3	NP_001949.1	Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	418						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity	p.Y418S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			GAGAGGCGGGTACTGGGAGAA	0.667000													11	12					0	0	1	0	0
SUSD4	55061	broad.mit.edu	37	1	223536659	223536659	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr1:223536659G>A	ENST00000343846.3	-	1	742	c.109C>T	c.(109-111)Cag>Tag	p.Q37*	SUSD4_ENST00000366878.4_Nonsense_Mutation_p.Q37*|SUSD4_ENST00000366877.3_Nonsense_Mutation_p.Q37*|SUSD4_ENST00000344029.6_Nonsense_Mutation_p.Q37*|SUSD4_ENST00000342943.3_Nonsense_Mutation_p.Q37*|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000454695.2_5'UTR			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	37						integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		AGCGCCAGCTGAAACCACAGG	0.617000													3	2					0	0	1	0	0
GPR173	54328	broad.mit.edu	37	X	53105924	53105924	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chrX:53105924G>A	ENST00000332582.4	+	2	612	c.121G>A	c.(121-123)Gcc>Acc	p.A41T		NM_018969.5	NP_061842.1	Q9NS66	GP173_HUMAN	G protein-coupled receptor 173	41						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)	16						GGCGGGTAACGCCATCTTGTC	0.612000													3	46					0	0	1	0	0
HIST1H4K	8362	broad.mit.edu	37	6	27799001	27799001	+	Missense_Mutation	SNP	C	C	T			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr6:27799001C>T	ENST00000357549.2	-	1	304	c.305G>A	c.(304-306)gGt>gAt	p.G102D		NM_003541.2	NP_003532.1	P62805	H4_HUMAN	histone cluster 1, H4k	102					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			breast(1)|endometrium(1)|lung(3)|ovary(1)|prostate(1)	7						CGCTCAACCACCGAAACCGTA	0.572000													13	26					0	0	1	0	0
GDPD2	54857	broad.mit.edu	37	X	69645908	69645908	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chrX:69645908G>A	ENST00000453994.2	+	5	671	c.310G>A	c.(310-312)Gcc>Acc	p.A104T	GDPD2_ENST00000538649.1_Missense_Mutation_p.A25T|GDPD2_ENST00000536730.1_Missense_Mutation_p.A25T|GDPD2_ENST00000374382.3_Missense_Mutation_p.A104T|GDPD2_ENST00000472623.1_3'UTR	NM_001171192.1	NP_001164663.1	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	104					glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					CTAGGTCCTGGCCCTGCTCCT	0.607000													20	20					0	0	1	0	0
HSD17B2	3294	broad.mit.edu	37	16	82104725	82104725	+	Silent	SNP	C	C	T			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr16:82104725C>T	ENST00000199936.4	+	3	850	c.657C>T	c.(655-657)agC>agT	p.S219S	RP11-510J16.5_ENST00000567021.1_RNA	NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	219					response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10					NADH(DB00157)	ATGTCAGCAGCATGGGAGGTG	0.488000													5	48					0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150842518	150842518	+	Missense_Mutation	SNP	A	A	G			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chrX:150842518A>G	ENST00000370357.4	+	15	2280	c.2035A>G	c.(2035-2037)Acc>Gcc	p.T679A		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	679						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					TTCAGACTCAACCATAAGCAC	0.498000													35	47					0	0	1	0	0
URB2	9816	broad.mit.edu	37	1	229770818	229770818	+	Missense_Mutation	SNP	T	T	A			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr1:229770818T>A	ENST00000258243.2	+	4	594	c.458T>A	c.(457-459)cTt>cAt	p.L153H		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	153						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CTGAGCCAGCTTTGCTGGTCG	0.587000													9	47					0	0	1	0	0
FAM193B	54540	broad.mit.edu	37	5	176951816	176951816	+	Missense_Mutation	SNP	G	G	C			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr5:176951816G>C	ENST00000329540.5	-	9	3373	c.544C>G	c.(544-546)Cca>Gca	p.P182A	FAM193B_ENST00000514747.1_Missense_Mutation_p.P556A|FAM193B_ENST00000443375.2_Missense_Mutation_p.P523A			Q6IPW0	Q6IPW0_HUMAN	family with sequence similarity 193, member B	232										kidney(1)|large_intestine(3)	4						TCTGCCCATGGTGGGGCTGGC	0.622000													7	7					0	0	1	0	0
TEC	7006	broad.mit.edu	37	4	48173436	48173436	+	Missense_Mutation	SNP	A	A	G			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr4:48173436A>G	ENST00000381501.3	-	4	431	c.274T>C	c.(274-276)Ttt>Ctt	p.F92L		NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	92	PH.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						CTAGGTGCAAAAATGTAAAGT	0.363000													23	35					0	0	1	0	0
NEURL4	84461	broad.mit.edu	37	17	7226076	7226076	+	Silent	SNP	C	C	T	rs35849202		TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr17:7226076C>T	ENST00000399464.2	-	16	2718	c.2703G>A	c.(2701-2703)aaG>aaA	p.K901K	NEURL4_ENST00000570460.1_Silent_p.K877K|NEURL4_ENST00000315614.7_Silent_p.K899K	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GTGGGAAGGACTTCTCGGTGG	0.622000													9	72					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37029164	37029164	+	Missense_Mutation	SNP	C	C	T			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chrX:37029164C>T	ENST00000358047.3	+	1	2733	c.2681C>T	c.(2680-2682)tCc>tTc	p.S894F		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	894										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AACGAGTGTTCCTCAGGGCTG	0.438000													4	115					0	0	1	0	0
FLCN	201163	broad.mit.edu	37	17	17119748	17119748	+	Missense_Mutation	SNP	T	T	C			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr17:17119748T>C	ENST00000285071.4	-	11	1700	c.1246A>G	c.(1246-1248)Aac>Gac	p.N416D	RP11-45M22.4_ENST00000427497.3_3'UTR	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	416					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CCCAGGAAGTTGCACCGATAG	0.662000									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome				3	11					0	0	1	0	0
ACCS	84680	broad.mit.edu	37	11	44098861	44098861	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr11:44098861G>A	ENST00000263776.8	+	7	1023	c.589G>A	c.(589-591)Gct>Act	p.A197T	ACCS_ENST00000432284.2_3'UTR|ACCS_ENST00000533208.1_Intron	NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	197							1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	p.A197T(1)		breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						TTACTATGGCGCTATCACACA	0.582000													17	114					0	0	1	0	0
UNC5C	8633	broad.mit.edu	37	4	96124101	96124101	+	Silent	SNP	G	G	A			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr4:96124101G>A	ENST00000453304.1	-	12	2265	c.1917C>T	c.(1915-1917)gtC>gtT	p.V639V		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	639					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TTTCCTCCCCGACCACCACCA	0.592000													4	29					0	0	1	0	0
PDCD11	22984	broad.mit.edu	37	10	105202012	105202012	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr10:105202012G>A	ENST00000369797.3	+	32	4844	c.4750G>A	c.(4750-4752)Gca>Aca	p.A1584T		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1584					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GAAGCAGAAGGCAGAGAAGGA	0.547000													3	58					0	0	1	0	0
CDH19	28513	broad.mit.edu	37	18	64197119	64197119	+	Missense_Mutation	SNP	T	T	C			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr18:64197119T>C	ENST00000262150.2	-	9	1713	c.1421A>G	c.(1420-1422)tAt>tGt	p.Y474C	CDH19_ENST00000540086.1_Missense_Mutation_p.Y474C	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	474	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				ATAAGTCTCATAGTATTGAGA	0.323000													3	72					0	0	1	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52130494	52130494	+	Silent	SNP	C	C	T			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr19:52130494C>T	ENST00000222107.4	-	7	1428	c.1290G>A	c.(1288-1290)tcG>tcA	p.S430S	SIGLEC5_ENST00000570106.2_Silent_p.S430S|SIGLEC5_ENST00000534261.2_Silent_p.S430S|SIGLEC5_ENST00000599649.1_Silent_p.S430S|SIGLEC5_ENST00000429354.3_Silent_p.S430S			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	430					cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		TCCCGAGGTTCGATCTCCCTG	0.557000													3	24					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|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(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								20	36					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9049830	9049830	+	Missense_Mutation	SNP	T	T	A			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr19:9049830T>A	ENST00000397910.4	-	5	32004	c.31801A>T	c.(31801-31803)Atc>Ttc	p.I10601F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10603	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCAGGATGGATAACCCATGAA	0.483000													28	48					0	0	1	0	0
SRBD1	55133	broad.mit.edu	37	2	45807076	45807076	+	Missense_Mutation	SNP	C	C	T			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr2:45807076C>T	ENST00000263736.4	-	7	1072	c.1010G>A	c.(1009-1011)aGg>aAg	p.R337K		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	337					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			AAGCAGTGCCCTGGCTGCTCC	0.438000													14	129					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38812790	38812790	+	Silent	SNP	A	A	G			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr3:38812790A>G	ENST00000449082.2	-	4	578	c.579T>C	c.(577-579)gaT>gaC	p.D193D		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	193					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TGACGCTAAAATCCAGCCAGT	0.448000													25	40					0	0	1	0	0
CRIM1	51232	broad.mit.edu	37	2	36737265	36737265	+	Silent	SNP	T	T	C			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr2:36737265T>C	ENST00000280527.2	+	9	2008	c.1641T>C	c.(1639-1641)taT>taC	p.Y547Y		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	547	Antistasin-like 3.				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				GTGACAAGTATTGTCCACTTG	0.403000													6	60					0	0	1	0	0
SIRT5	23408	broad.mit.edu	37	6	13584419	13584419	+	Missense_Mutation	SNP	G	G	A	rs35634029		TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr6:13584419G>A	ENST00000606117.1	+	3	373	c.77G>A	c.(76-78)cGa>cAa	p.R26Q	SIRT5_ENST00000379262.4_Missense_Mutation_p.R26Q|SIRT5_ENST00000397350.2_5'UTR|SIRT5_ENST00000359782.3_Missense_Mutation_p.R26Q	NM_012241.4	NP_036373.1	Q9NXA8	SIRT5_HUMAN	sirtuin 5	26					chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial intermembrane space|mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	11	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.176)		Suramin(DB04786)	GCGTCCACACGAAACCAGATT	0.478000													15	29					0	0	1	0	0
ZBTB2	57621	broad.mit.edu	37	6	151687324	151687324	+	Silent	SNP	G	G	A			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr6:151687324G>A	ENST00000325144.4	-	3	1017	c.877C>T	c.(877-879)Ctg>Ttg	p.L293L		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	293					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		CAGAGAGTCAGGGGGACGCGA	0.547000													14	76					0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179562904	179562904	+	Missense_Mutation	SNP	C	C	T			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr1:179562904C>T	ENST00000444136.1	+	3	792	c.542C>T	c.(541-543)gCg>gTg	p.A181V	TDRD5_ENST00000367614.1_Missense_Mutation_p.A181V|TDRD5_ENST00000294848.8_Missense_Mutation_p.A181V	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	181	Lotus/OST-HTH 2.				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						GTGCTTAATGCGGCTTCAGAT	0.408000													3	70					0	0	1	0	0
IMMT	10989	broad.mit.edu	37	2	86398455	86398455	+	Silent	SNP	C	C	T			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr2:86398455C>T	ENST00000410111.3	-	5	822	c.435G>A	c.(433-435)gcG>gcA	p.A145A	IMMT_ENST00000409051.2_Intron|IMMT_ENST00000442664.2_Silent_p.A145A|IMMT_ENST00000254636.5_Intron|IMMT_ENST00000449247.2_Intron	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	IMMT_HUMAN	inner membrane protein, mitochondrial	145				EAAQIISA -> ARAPASLT (in Ref. 9; AAF73126).		integral to mitochondrial inner membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TAATTTGAGCCGCTTCTGTAG	0.433000													4	11					0	0	1	0	0
DAPK1	1612	broad.mit.edu	37	9	90252944	90252944	+	Missense_Mutation	SNP	T	T	A			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr9:90252944T>A	ENST00000469640.2	+	4	746	c.371T>A	c.(370-372)cTt>cAt	p.L124H	DAPK1_ENST00000408954.3_Missense_Mutation_p.L124H|DAPK1_ENST00000491893.1_Missense_Mutation_p.L124H|DAPK1_ENST00000472284.1_Missense_Mutation_p.L124H|DAPK1_ENST00000358077.5_Missense_Mutation_p.L124H			P53355	DAPK1_HUMAN	death-associated protein kinase 1	124	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						AAACAAATTCTTAATGGTGTT	0.433000									Chronic Lymphocytic Leukemia, Familial Clustering of				5	57					0	0	1	0	0
OR12D2	26529	broad.mit.edu	37	6	29365261	29365261	+	Missense_Mutation	SNP	C	C	T	rs150705301	byFrequency	TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr6:29365261C>T	ENST00000383555.2	+	1	846	c.785C>T	c.(784-786)gCg>gTg	p.A262V	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						ATCCATCCTGCGTTAGAGAGC	0.448000													10	114					0	0	1	0	0
SSX6	0	broad.mit.edu	37	X	47976486	47976486	+	Silent	SNP	G	G	A	rs144718875	byFrequency	TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chrX:47976486G>A	ENST00000319275.3	+	6	495	c.129G>A	c.(127-129)ccG>ccA	p.P43P	SSX6_ENST00000376932.2_Silent_p.P141P														p.P141P(1)		large_intestine(6)|lung(4)|skin(2)|stomach(1)	13						AGCTGTGCCCGCCGGGAAAAG	0.512000													13	180					0	0	1	0	0
PIGA	5277	broad.mit.edu	37	X	15342872	15342872	+	Nonsense_Mutation	SNP	G	G	C			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chrX:15342872G>C	ENST00000333590.4	-	5	1187	c.1103C>G	c.(1102-1104)tCa>tGa	p.S368*	PIGA_ENST00000482148.1_5'UTR|PIGA_ENST00000542278.1_Nonsense_Mutation_p.S134*|PIGA_ENST00000428964.1_Nonsense_Mutation_p.S53*	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class A	368					C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					CAATGTCCCTGACTTCAGTTG	0.398000													15	131					0	0	1	0	0
ZBTB2	57621	broad.mit.edu	37	6	151686867	151686867	+	Missense_Mutation	SNP	T	T	C			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr6:151686867T>C	ENST00000325144.4	-	3	1474	c.1334A>G	c.(1333-1335)aAc>aGc	p.N445S		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	445					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		GTAGGGTTTGTTTGTTTGCAC	0.443000													3	57					0	0	1	0	0
RRN3P2	0	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													5	69					0	0	1	0	0
IGHG2	0	broad.mit.edu	37	14	106110177	106110177	+	RNA	SNP	G	G	C			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr14:106110177G>C	ENST00000390545.2	-	0	440																											CGGGGTCTTCGTGGCTCACGT	0.602000													4	144					0	0	1	0	0
ZNF433	163059	broad.mit.edu	37	19	12126626	12126626	+	Silent	SNP	G	G	A			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr19:12126626G>A	ENST00000419886.2	-	5	1242	c.951C>T	c.(949-951)agC>agT	p.S317S	CTD-2006C1.2_ENST00000406892.2_RNA|CTD-2006C1.2_ENST00000495324.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF433_ENST00000344980.6_Silent_p.S352S			Q8N7K0	ZN433_HUMAN	zinc finger protein 433	352					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						GGTTTTGAAAGCTGGTAAGAT	0.383000													3	51					0	0	1	0	0
TBCC	6903	broad.mit.edu	37	6	42713776	42713776	+	Missense_Mutation	SNP	C	C	A			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr6:42713776C>A	ENST00000244625.2	-	2	599	c.36G>T	c.(34-36)agG>agT	p.R12S	TBCC_ENST00000372876.1_Missense_Mutation_p.R12S			Q15814	TBCC_HUMAN	tubulin folding cofactor C	12					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|photoreceptor connecting cilium	chaperone binding|GTPase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14	Colorectal(47;0.196)		all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)			TGTCTCCGGTCCTGACAGCAG	0.597000													14	29					2.61681e-11	2.67249e-11	1	1	0
TP53	7157	broad.mit.edu	37	17	7578496	7578496	+	Missense_Mutation	SNP	A	A	G			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr17:7578496A>G	ENST00000420246.2	-	5	566	c.434T>C	c.(433-435)cTg>cCg	p.L145P	TP53_ENST00000269305.4_Missense_Mutation_p.L145P|TP53_ENST00000359597.4_Missense_Mutation_p.L145P|TP53_ENST00000445888.2_Missense_Mutation_p.L145P|TP53_ENST00000455263.2_Missense_Mutation_p.L145P|TP53_ENST00000413465.2_Missense_Mutation_p.L145P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	145	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		L -> M (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> Q (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (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|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.L145Q(17)|p.L145P(17)|p.0?(8)|p.L145R(7)|p.Q144_G154del11(1)|p.L137_W146del10(1)|p.Q144fs*32(1)|p.Q144fs*16(1)|p.W146fs*25(1)|p.W146fs*22(1)|p.L145del(1)|p.V143_S149del(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)		ATCAACCCACAGCTGCACAGG	0.602000		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)			33	4					0	0	1	0	0
HIP1	3092	broad.mit.edu	37	7	75172231	75172231	+	Missense_Mutation	SNP	G	G	T			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr7:75172231G>T	ENST00000336926.6	-	28	2855	c.2829C>A	c.(2827-2829)aaC>aaA	p.N943K	HIP1_ENST00000434438.2_Missense_Mutation_p.N892K	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	943	I/LWEQ.				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CAGTGGCCTGGTTCACTCCCC	0.542000			T	PDGFRB	CMML								5	50					0.014758	0.014758	1	1	0
CFB	629	broad.mit.edu	37	6	31901429	31901429	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr6:31901429G>A	ENST00000456570.1	+	3	354	c.299G>A	c.(298-300)cGg>cAg	p.R100Q	C2_ENST00000452323.2_Missense_Mutation_p.R39Q|C2_ENST00000469372.1_5'UTR|C2_ENST00000299367.5_Missense_Mutation_p.R162Q|C2_ENST00000442278.2_Missense_Mutation_p.R30Q|CFB_ENST00000477310.1_Intron|CFB_ENST00000556679.1_Missense_Mutation_p.R100Q|C2_ENST00000418949.2_Missense_Mutation_p.R162Q			P00751	CFAB_HUMAN	complement factor B	176	Sushi 1.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						GGCGCAGTGCGGACAGGCTTC	0.632000													14	12					0	0	1	0	0
CTSG	1511	broad.mit.edu	37	14	25043625	25043625	+	Silent	SNP	C	C	T			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr14:25043625C>T	ENST00000216336.2	-	4	456	c.420G>A	c.(418-420)acG>acA	p.T140T		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	140	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	p.T140T(1)		autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		CAGTGCACAGCGTCCCGGGTC	0.612000													3	54					0	0	1	0	0
IAPP	3375	broad.mit.edu	37	12	21531254	21531254	+	Missense_Mutation	SNP	A	A	G			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr12:21531254A>G	ENST00000240652.3	+	3	300	c.164A>G	c.(163-165)aAc>aGc	p.N55S	IAPP_ENST00000539393.1_Missense_Mutation_p.N55S|SLCO1A2_ENST00000473830.1_Intron|SLCO1A2_ENST00000537524.1_Intron|IAPP_ENST00000542023.1_3'UTR|SLCO1A2_ENST00000307378.6_Intron	NM_000415.2	NP_000406.1	P10997	IAPP_HUMAN	islet amyloid polypeptide	55					apoptosis|cell-cell signaling|endocrine pancreas development|signal transduction	extracellular region|soluble fraction	hormone activity			lung(3)	3					Perindopril(DB00790)	TCCAGCAACAACTTTGGTGCC	0.453000													28	54					0	0	1	0	0
RP11-571L19.7	0	broad.mit.edu	37	4	99877753	99877754	+	RNA	DEL	AA	AA	-	rs33952764		TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr4:99877753_99877754delAA	ENST00000583654.1	+	0	237																											actctgtctcaaaaaaaaaaaa	0.450													2	4	---	---	---	---					
TRBV7-3	0	broad.mit.edu	37	7	142247456	142247457	+	RNA	DEL	CA	CA	-			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr7:142247456_142247457delCA	ENST00000390361.3	-	0	99																											TTGTACTCATcacacacacaca	0.545													7	136	---	---	---	---					
PIH1D2	120379	broad.mit.edu	37	11	111934916	111934916	+	Frame_Shift_Del	DEL	T	T	-			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr11:111934916delT	ENST00000431456.1	-	6	1065	c.843delA	c.(841-843)aafs	p.K281fs	DLAT_ENST00000393051.1_3'UTR|DLAT_ENST00000280346.6_3'UTR|PIH1D2_ENST00000528775.1_Frame_Shift_Del_p.K281fs	NM_001082619.1	NP_001076088.1	Q8WWB5	PIHD2_HUMAN	PIH1 domain containing 2	0										endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)		ATAATTCATCTTTCGCTAATG	0.313													2	4	---	---	---	---					
