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
TRIM24	8805	broad.mit.edu	37	7	138261187	138261187	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr7:138261187G>A	ENST00000343526.4	+	13	2299	c.2084G>A	c.(2083-2085)gGa>gAa	p.G695E	TRIM24_ENST00000415680.2_Missense_Mutation_p.G661E			O15164	TIF1A_HUMAN	tripartite motif containing 24	695					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						GGAAGCCGAGGAAGGTAAACT	0.378000													8	87					0	0	1	0	0
OXR1	55074	broad.mit.edu	37	8	107704967	107704967	+	Silent	SNP	C	C	T			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr8:107704967C>T	ENST00000445937.1	+	7	798	c.537C>T	c.(535-537)gtC>gtT	p.V179V	OXR1_ENST00000442977.2_Silent_p.V180V|OXR1_ENST00000452423.2_5'UTR|OXR1_ENST00000531443.1_Silent_p.V179V|OXR1_ENST00000312046.6_Silent_p.V172V|OXR1_ENST00000497705.1_Silent_p.V112V|OXR1_ENST00000517566.2_Silent_p.V179V	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	oxidation resistance 1	180					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			ATCCTGATGTCCATCCAACAG	0.338000													14	35					0	0	1	0	0
KIF5C	3800	broad.mit.edu	37	2	149679749	149679749	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr2:149679749C>T	ENST00000435030.1	+	2	538	c.170C>T	c.(169-171)aCg>aTg	p.T57M				O60282	KIF5C_HUMAN	kinesin family member 5C	57	Kinesin-motor.				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		CCTCCCAACACGACCCAAGAG	0.408000													7	20					0	0	1	0	0
PDXDC2P	283970	broad.mit.edu	37	16	70010650	70010650	+	RNA	SNP	A	A	G	rs144900726	by1000genomes	TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr16:70010650A>G	ENST00000531894.1	-	0	3748					NR_003610.1																						AGGGCCGAAGAAGGGAATGTT	0.468000													5	55					0	0	1	0	0
AGTR2	186	broad.mit.edu	37	X	115303787	115303787	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chrX:115303787A>G	ENST00000371906.4	+	3	444	c.254A>G	c.(253-255)aAc>aGc	p.N85S		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	85					behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						TACATCTTCAACCTCGCTGTG	0.378000													4	305					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					6	43					0	0	1	0	0
MRPS23	51649	broad.mit.edu	37	17	55918578	55918578	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr17:55918578G>T	ENST00000313608.8	-	3	304	c.259C>A	c.(259-261)Cta>Ata	p.L87I	MRPS23_ENST00000578444.1_Missense_Mutation_p.L87I	NM_016070.3	NP_057154.2	Q9Y3D9	RT23_HUMAN	mitochondrial ribosomal protein S23	87					translation	intermediate filament cytoskeleton|mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome			endometrium(2)|large_intestine(1)|lung(2)	5	Breast(9;8.75e-08)					GGATTGAATAGATCAAAAGCT	0.323000													48	71					6.3237e-29	6.71893e-29	1	1	0
PDXDC2P	283970	broad.mit.edu	37	16	70010646	70010646	+	RNA	SNP	G	G	A	rs149870591	by1000genomes	TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr16:70010646G>A	ENST00000531894.1	-	0	3748					NR_003610.1																						CTGTAGGGCCGAAGAAGGGAA	0.478000													5	59					0	0	1	0	0
NAB2	4665	broad.mit.edu	37	12	57485457	57485457	+	Silent	SNP	T	T	C			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr12:57485457T>C	ENST00000300131.3	+	2	1011	c.633T>C	c.(631-633)ccT>ccC	p.P211P	NAB2_ENST00000357680.4_Silent_p.P211P|NAB2_ENST00000342556.6_Silent_p.P211P|NAB2_ENST00000554718.1_3'UTR	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	211					cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity	p.P211P(3)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						TCTCCCCCCCTGCAGGGGGAG	0.711000													3	11					0	0	1	0	0
MST1L	11223	broad.mit.edu	37	1	17085056	17085056	+	RNA	SNP	G	G	A			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr1:17085056G>A	ENST00000455405.2	-	0	132																											CCACCCTCTTGCCACACTTCT	0.602000													5	55					0	0	1	0	0
ZNF569	148266	broad.mit.edu	37	19	37903535	37903535	+	Silent	SNP	C	C	T			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr19:37903535C>T	ENST00000316950.6	-	6	2582	c.2025G>A	c.(2023-2025)tcG>tcA	p.S675S	ZNF569_ENST00000392149.2_Silent_p.S675S|ZNF569_ENST00000392150.2_Silent_p.S516S	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	675					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TAACAAGGTGCGACTTTTGGC	0.408000													49	72					0	0	1	0	0
CEACAM6	4680	broad.mit.edu	37	19	42259554	42259554	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr19:42259554C>T	ENST00000199764.6	+	1	226	c.8C>T	c.(7-9)cCc>cTc	p.P3L	CEA_ENST00000598976.1_Intron	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	3					cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		ACCATGGGACCCCCCTCAGCC	0.612000													15	35					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37027114	37027114	+	Missense_Mutation	SNP	C	C	T	rs143691874		TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chrX:37027114C>T	ENST00000358047.3	+	1	683	c.631C>T	c.(631-633)Cgc>Tgc	p.R211C		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	211										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						GTCCAGTCTCCGCCCGGAGCC	0.647000													22	35					0	0	1	0	0
RTDR1	27156	broad.mit.edu	37	22	23401783	23401783	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr22:23401783C>T	ENST00000216036.4	-	7	1100	c.904G>A	c.(904-906)Gcc>Acc	p.A302T		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN	rhabdoid tumor deletion region gene 1	302							binding			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		CCCTCGGGGGCCTCTGCCAGC	0.642000													34	44					0	0	1	0	0
OR52N4	390072	broad.mit.edu	37	11	5776137	5776137	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr11:5776137C>T	ENST00000317254.3	+	1	215	c.167C>T	c.(166-168)gCc>gTc	p.A56V	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		TATGAGGATGCCCTGCACAAA	0.453000													3	58					0	0	1	0	0
FUT8	2530	broad.mit.edu	37	14	66208905	66208905	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr14:66208905A>G	ENST00000360689.5	+	11	3232	c.1505A>G	c.(1504-1506)cAg>cGg	p.Q502R	FUT8_ENST00000394585.1_Missense_Mutation_p.Q502R|FUT8_ENST00000417683.1_Missense_Mutation_p.Q96R|FUT8_ENST00000358307.2_Missense_Mutation_p.Q373R|FUT8_ENST00000557164.1_Missense_Mutation_p.Q339R|FUT8_ENST00000394586.2_Missense_Mutation_p.Q502R	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	502	SH3.				in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		TTTGGGGGCCAGAATGCCCAC	0.438000													5	137					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000403642.1_Silent_p.S281S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					7	42					0	0	1	0	0
TLE3	7090	broad.mit.edu	37	15	70347560	70347560	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr15:70347560C>T	ENST00000558939.1	-	15	2792	c.1415G>A	c.(1414-1416)gGc>gAc	p.G472D	TLE3_ENST00000317509.8_Missense_Mutation_p.G460D|TLE3_ENST00000558379.1_Missense_Mutation_p.G467D|TLE3_ENST00000558201.1_Missense_Mutation_p.G478D|TLE3_ENST00000559929.1_Missense_Mutation_p.G482D|TLE3_ENST00000440567.3_Missense_Mutation_p.G462D|TLE3_ENST00000451782.2_Missense_Mutation_p.G469D|TLE3_ENST00000560939.1_Missense_Mutation_p.G474D|TLE3_ENST00000557907.1_Missense_Mutation_p.G464D|TLE3_ENST00000557997.1_Missense_Mutation_p.G464D|TLE3_ENST00000559048.1_Missense_Mutation_p.G472D|TLE3_ENST00000559191.1_Missense_Mutation_p.G53D|TLE3_ENST00000539550.1_Missense_Mutation_p.G399D|TLE3_ENST00000442299.2_Missense_Mutation_p.G464D|TLE3_ENST00000560589.1_Missense_Mutation_p.G416D	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN	transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)	472					organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CCTCGGGATGCCGGGGCCTGC	0.637000													3	51					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	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								19	38					0	0	1	0	0
CDH17	1015	broad.mit.edu	37	8	95178204	95178204	+	Splice_Site	SNP	C	C	A			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr8:95178204C>A	ENST00000027335.3	-	10	1191	c.1067G>T	c.(1066-1068)gGt>gTt	p.G356V	CDH17_ENST00000450165.2_Splice_Site_p.G356V|CDH17_ENST00000441892.2_Splice_Site_p.G142V	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	356	Cadherin 4.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			GATACTGTTACCTATGAGGAA	0.398000													9	19					0.000673444	0.000700932	1	1	0
SIRT1	23411	broad.mit.edu	37	10	69669113	69669113	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr10:69669113G>C	ENST00000212015.6	+	7	1324	c.1271G>C	c.(1270-1272)aGa>aCa	p.R424T	SIRT1_ENST00000403579.1_Missense_Mutation_p.R121T|SIRT1_ENST00000432464.1_Missense_Mutation_p.R129T|SIRT1_ENST00000406900.1_Missense_Mutation_p.R121T	NM_012238.4	NP_036370.2	Q96EB6	SIRT1_HUMAN	sirtuin 1	424	Deacetylase sirtuin-type.				apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin	bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						CAGTTTCATAGAGCCATGAAG	0.418000													41	40					0	0	1	0	0
CLDND1	56650	broad.mit.edu	37	3	98235544	98235544	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr3:98235544G>A	ENST00000503004.1	-	5	1600	c.721C>T	c.(721-723)Cgg>Tgg	p.R241W	CLDND1_ENST00000507874.1_Intron|CLDND1_ENST00000394181.2_Missense_Mutation_p.R241W|CLDND1_ENST00000341181.6_Missense_Mutation_p.R241W|CLDND1_ENST00000437922.1_Missense_Mutation_p.R264W|CLDND1_ENST00000511081.1_Missense_Mutation_p.R146W|CLDND1_ENST00000394185.2_Missense_Mutation_p.R241W|CLDND1_ENST00000513287.1_Missense_Mutation_p.R241W|CLDND1_ENST00000502288.1_Intron|CLDND1_ENST00000394180.2_Missense_Mutation_p.R241W|CLDND1_ENST00000510545.1_Missense_Mutation_p.R241W			Q9NY35	CLDN1_HUMAN	claudin domain containing 1	241						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	9						TACTCTTTCCGGTTGGTGTGA	0.428000													15	33					0	0	1	0	0
CMIP	80790	broad.mit.edu	37	16	81735339	81735339	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr16:81735339G>C	ENST00000537098.3	+	16	1902	c.1830G>C	c.(1828-1830)gaG>gaC	p.E610D	CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000398040.4_Missense_Mutation_p.E457D|CMIP_ENST00000539778.2_Missense_Mutation_p.E516D	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	576						cytoplasm|nucleus				endometrium(5)|kidney(1)|lung(7)	13						CAACCCTGGAGAGCACAGACG	0.587000													63	114					0	0	1	0	0
TMC3	342125	broad.mit.edu	37	15	81627192	81627192	+	Silent	SNP	T	T	C			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr15:81627192T>C	ENST00000558726.1	-	21	2466	c.2331A>G	c.(2329-2331)tcA>tcG	p.S777S	RP11-761I4.3_ENST00000560973.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA|TMC3_ENST00000359440.5_Silent_p.S776S			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	776						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TGCTGCTCCCTGAGTCAAAAT	0.607000													3	42					0	0	1	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95522815	95522815	+	RNA	SNP	A	A	G			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr2:95522815A>G	ENST00000432432.2	-	0	212					NR_040113.1																						ATCTTCTGCAATTCGGAGTCC	0.652000													3	48					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	152012290	152012290	+	Missense_Mutation	SNP	C	C	A			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr7:152012290C>A	ENST00000355193.2	-	4	741	c.523G>T	c.(523-525)Gac>Tac	p.D175Y	KMT2C_ENST00000262189.6_Missense_Mutation_p.D175Y					lysine (K)-specific methyltransferase 2C																		TTGCTGTTGTCATCAATGTCC	0.378000													79	284					1.25742e-37	1.36444e-37	1	1	0
DDX54	79039	broad.mit.edu	37	12	113614883	113614883	+	Silent	SNP	A	A	G			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr12:113614883A>G	ENST00000314045.7	-	6	657	c.630T>C	c.(628-630)ttT>ttC	p.F210F	DDX54_ENST00000306014.5_Silent_p.F210F	NM_001111322.1	NP_001104792.1	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	210	Helicase ATP-binding.				estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GCAGGGCTGCAAACTGGTCTT	0.517000													22	38					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10298604	10298604	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr17:10298604G>A	ENST00000403437.2	-	34	4902	c.4808C>T	c.(4807-4809)aCg>aTg	p.T1603M	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1603					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TGCATCCAGCGTGCTCTGCAT	0.428000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				40	100					0	0	1	0	0
LTA4H	4048	broad.mit.edu	37	12	96400139	96400139	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr12:96400139G>A	ENST00000228740.2	-	16	1624	c.1483C>T	c.(1483-1485)Ctc>Ttc	p.L495F	LTA4H_ENST00000413268.2_Missense_Mutation_p.L471F|LTA4H_ENST00000552789.1_Missense_Mutation_p.L471F|LTA4H_ENST00000548375.1_5'UTR|RP11-256L6.3_ENST00000551849.1_RNA	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	495					hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis	cytosol|nucleus	aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12						TGAGAAGAGAGATCCTTCAGG	0.338000													9	19					0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4829646	4829646	+	Nonsense_Mutation	SNP	C	C	T			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr3:4829646C>T	ENST00000354582.6	+	51	6936	c.6586C>T	c.(6586-6588)Cga>Tga	p.R2196*	ITPR1_ENST00000357086.4_Nonsense_Mutation_p.R2163*|ITPR1_ENST00000456211.2_Nonsense_Mutation_p.R2148*|ITPR1_ENST00000443694.2_Nonsense_Mutation_p.R2196*|ITPR1_ENST00000302640.8_Nonsense_Mutation_p.R2196*|ITPR1_ENST00000423119.2_Nonsense_Mutation_p.R2163*|ITPR1_ENST00000544951.1_Intron			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2211					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		CAGATTAGACCGAACAATGGA	0.388000													3	10					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53579402	53579402	+	Splice_Site	SNP	G	G	C			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chrX:53579402G>C	ENST00000342160.3	-	62	9208	c.8751C>G	c.(8749-8751)agC>agG	p.S2917R	HUWE1_ENST00000262854.6_Splice_Site_p.S2917R			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2917					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CAGGTGGGGAGCTGAGGGAAA	0.488000													4	18					0	0	1	0	0
NDRG3	57446	broad.mit.edu	37	20	35293669	35293669	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr20:35293669C>T	ENST00000373803.2	-	11	784	c.728G>A	c.(727-729)gGc>gAc	p.G243D	NDRG3_ENST00000359675.2_Missense_Mutation_p.G231D|NDRG3_ENST00000373773.3_Missense_Mutation_p.G148D|NDRG3_ENST00000349004.1_Missense_Mutation_p.G243D|NDRG3_ENST00000540765.1_Missense_Mutation_p.G139D			Q9UGV2	NDRG3_HUMAN	NDRG family member 3	243					cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Myeloproliferative disorder(115;0.00878)				ATCATTTTGGCCCAGTATGGG	0.378000													4	201					0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52539130	52539130	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr3:52539130G>A	ENST00000321725.6	+	13	1565	c.1489G>A	c.(1489-1491)Gcc>Acc	p.A497T		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	497					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCGGTGGCAGGCCCCCTCTGG	0.607000													30	44					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7579935	7579935	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr6:7579935T>C	ENST00000379802.3	+	23	3853	c.3512T>C	c.(3511-3513)aTt>aCt	p.I1171T	DSP_ENST00000418664.2_Missense_Mutation_p.I1171T	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1171	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GAGTACGAGATTGAAAGGTTG	0.443000													19	25					0	0	1	0	0
TRAV9-2	28677	broad.mit.edu	37	14	22409646	22409646	+	RNA	SNP	G	G	A			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr14:22409646G>A	ENST00000390441.2	+	0	192																											CACGTACACAGCCACAGGATA	0.498000													10	18					0	0	1	0	0
TRPV6	55503	broad.mit.edu	37	7	142573433	142573433	+	Splice_Site	SNP	C	C	T			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr7:142573433C>T	ENST00000359396.3	-	8	1155	c.910G>A	c.(910-912)Gct>Act	p.A304T		NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	304					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					ATCTGGCGAGCCTGCAACAGA	0.597000													4	120					0	0	1	0	0
INPP5E	56623	broad.mit.edu	37	9	139326361	139326361	+	Silent	SNP	G	G	A	rs140255426	byFrequency	TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr9:139326361G>A	ENST00000371712.3	-	7	1866	c.1464C>T	c.(1462-1464)gtC>gtT	p.V488V		NM_019892.4	NP_063945.2	Q9NRR6	INP5E_HUMAN	inositol polyphosphate-5-phosphatase, 72 kDa	488						cilium axoneme|cytoskeleton|Golgi cisterna membrane	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			NS(1)|endometrium(1)|lung(4)|skin(3)	9		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		GGGCGTCCACGACTGTGCGCC	0.667000													14	11					0	0	1	0	0
HPRT1	3251	broad.mit.edu	37	X	133627577	133627577	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chrX:133627577T>C	ENST00000298556.7	+	6	601	c.442T>C	c.(442-444)Tcc>Ccc	p.S148P	HPRT1_ENST00000462974.1_3'UTR	NM_000194.2	NP_000185.1	P00492	HPRT_HUMAN	hypoxanthine phosphoribosyltransferase 1	148					adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP catabolic process|GMP salvage|grooming behavior|guanine salvage|hypoxanthine salvage|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|protein homotetramerization|purine ribonucleoside salvage|response to amphetamine|striatum development	cytosol	guanine phosphoribosyltransferase activity|hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9	Acute lymphoblastic leukemia(192;0.000127)				Mercaptopurine(DB01033)|Thioguanine(DB00352)	GACTTTGCTTTCCTTGGTCAG	0.353000													89	122					0	0	1	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													4	57					0	0	1	0	0
MAATS1	89876	broad.mit.edu	37	3	119449113	119449113	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr3:119449113C>T	ENST00000273390.5	+	8	984	c.907C>T	c.(907-909)Cgt>Tgt	p.R303C		NM_033364.3	NP_203528			MYCBP-associated, testis expressed 1																		GTTGAGGAAGCGTGAAGAGAA	0.428000													5	185					0	0	1	0	0
TMEFF1	8577	broad.mit.edu	37	9	103338864	103338864	+	Frame_Shift_Del	DEL	G	G	-			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr9:103338864delG	ENST00000374879.4	+	10	1557	c.1125delG	c.(1123-1125)acgfs	p.T375fs	TMEFF1_ENST00000334943.6_Frame_Shift_Del_p.T336fs|MSANTD3-TMEFF1_ENST00000502978.1_Frame_Shift_Del_p.V339fs	NM_003692.4	NP_003683.2			transmembrane protein with EGF-like and two follistatin-like domains 1											NS(1)|kidney(1)|large_intestine(7)|lung(9)|stomach(1)	19		Acute lymphoblastic leukemia(62;0.0452)				CTTCAGATACGTCATCCAGAA	0.308													25	77	---	---	---	---					
GPX2	2877	broad.mit.edu	37	14	65406518	65406519	+	Frame_Shift_Ins	INS	-	-	T			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr14:65406518_65406519insT	ENST00000389614.5	-	2	346_347	c.260_261insA	c.(259-261)aagfs	p.K87fs	CHURC1-FNTB_ENST00000549987.1_Intron|FNTB_ENST00000447296.2_Intron|FNTB_ENST00000542227.1_Intron	NM_002083.3	NP_002074.2	P18283	GPX2_HUMAN	glutathione peroxidase 2 (gastrointestinal)	87					response to oxidative stress	cytoplasm	electron carrier activity|glutathione peroxidase activity			large_intestine(2)|ovary(1)|skin(1)	4				all cancers(60;0.00117)|OV - Ovarian serous cystadenocarcinoma(108;0.00557)|BRCA - Breast invasive adenocarcinoma(234;0.00971)	Glutathione(DB00143)	GACGGACATACTTGAGACTGTT	0.520													16	36	---	---	---	---					
