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
CYBB	1536	broad.mit.edu	37	X	37660587	37660587	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chrX:37660587G>C	ENST00000378588.4	+	8	950	c.883G>C	c.(883-885)Gtg>Ctg	p.V295L	CYBB_ENST00000536160.1_Missense_Mutation_p.V28L|TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000545017.1_Missense_Mutation_p.V263L|CYBB_ENST00000492288.1_3'UTR	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	295	FAD-binding FR-type.				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						TCAACAGAAGGTGGTCATCAC	0.418000													81	149					0	0	1	0	0
DVL2	1856	broad.mit.edu	37	17	7130442	7130442	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr17:7130442C>T	ENST00000005340.5	-	13	1792	c.1510G>A	c.(1510-1512)Gtc>Atc	p.V504I	DVL2_ENST00000575458.1_Missense_Mutation_p.V498I	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	504	DEP.				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						TCTCCGAAGACGTAATAGCAC	0.587000													37	67					0	0	1	0	0
OR5AP2	338675	broad.mit.edu	37	11	56409492	56409492	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr11:56409492C>T	ENST00000544374.1	-	1	455	c.427G>A	c.(427-429)Gtg>Atg	p.V143M	OR5AP2_ENST00000302981.1_Missense_Mutation_p.V142M			Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V142M(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						CTCCCAGACACGAGAACTGGG	0.488000													12	33					0	0	1	0	0
TFDP3	51270	broad.mit.edu	37	X	132351926	132351926	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chrX:132351926G>A	ENST00000310125.4	-	1	450	c.362C>T	c.(361-363)aCg>aTg	p.T121M		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	121		Critical for repression of E2F activity.				transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					CCTCTGCACCGTCTCCCAGAC	0.592000													35	81					0	0	1	0	0
ATP8B3	148229	broad.mit.edu	37	19	1785228	1785228	+	Silent	SNP	G	G	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr19:1785228G>A	ENST00000539485.1	-	27	3725	c.3492C>T	c.(3490-3492)taC>taT	p.Y1164Y	ATP8B3_ENST00000310127.6_Silent_p.Y1154Y|ATP8B3_ENST00000525591.1_Silent_p.Y1117Y			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1154					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		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)		TCATGATGGCGTAGAAACCAA	0.597000													5	8					0	0	1	0	0
BCOR	54880	broad.mit.edu	37	X	39933843	39933843	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chrX:39933843G>T	ENST00000342274.4	-	4	1118	c.756C>A	c.(754-756)taC>taA	p.Y252*	BCOR_ENST00000378455.4_Nonsense_Mutation_p.Y252*|BCOR_ENST00000397354.3_Nonsense_Mutation_p.Y252*|BCOR_ENST00000378444.4_Nonsense_Mutation_p.Y252*	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	252					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GGGGACCGACGTAGTGAGGTG	0.607000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						7	20					0.00198382	0.00200744	1	1	0
TLR6	10333	broad.mit.edu	37	4	38830190	38830190	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr4:38830190G>A	ENST00000436693.2	-	2	1024	c.905C>T	c.(904-906)aCg>aTg	p.T302M	TLR6_ENST00000381950.1_Missense_Mutation_p.T302M	NM_006068.4	NP_006059.2	Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	302					activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTTCAATGTCGTTTTAGAATA	0.323000													11	24					0	0	1	0	0
GRHL2	79977	broad.mit.edu	37	8	102585973	102585973	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr8:102585973A>G	ENST00000251808.3	+	6	1150	c.812A>G	c.(811-813)aAc>aGc	p.N271S	GRHL2_ENST00000395927.1_Missense_Mutation_p.N255S	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	271						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			ACCTACCTCAACAAAGGACAG	0.522000													16	28					0	0	1	0	0
WDR63	126820	broad.mit.edu	37	1	85546977	85546977	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr1:85546977G>T	ENST00000294664.6	+	4	344	c.164G>T	c.(163-165)cGa>cTa	p.R55L	WDR63_ENST00000370596.1_Missense_Mutation_p.R55L|WDR63_ENST00000326813.8_Missense_Mutation_p.R55L	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	55										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		TTTAACTGCCGAATAGATGAA	0.368000													42	66					4.32679e-17	4.9037e-17	1	1	0
NPC1	4864	broad.mit.edu	37	18	21115459	21115459	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr18:21115459C>T	ENST00000269228.5	-	22	4005	c.3451G>A	c.(3451-3453)Gct>Act	p.A1151T	NPC1_ENST00000412552.2_Missense_Mutation_p.A833T	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	1151					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AAGGATACAGCGTTCAGACTG	0.512000													3	11					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152192866	152192866	+	Silent	SNP	G	G	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr1:152192866G>A	ENST00000368801.2	-	3	1314	c.1239C>T	c.(1237-1239)cgC>cgT	p.R413R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	413					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGTTGGCCGCGGCCTGAAG	0.632000													6	20					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238277603	238277603	+	Silent	SNP	G	G	A	rs115551245	by1000genomes	TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr2:238277603G>A	ENST00000295550.4	-	10	4955	c.4503C>T	c.(4501-4503)gaC>gaT	p.D1501D	COL6A3_ENST00000472056.1_Silent_p.D894D|COL6A3_ENST00000409809.1_Silent_p.D1295D|COL6A3_ENST00000347401.3_Silent_p.D1300D|COL6A3_ENST00000353578.4_Silent_p.D1295D|COL6A3_ENST00000346358.4_Silent_p.D1301D	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1501	Nonhelical region.|VWFA 8.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCCGTATGGCGTCCAGCACCG	0.557000													17	24					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr3:195505836G>C	ENST00000463781.3	-	2	13074	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	968					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597000													2	2					0	0	1	0	0
KRT31	3881	broad.mit.edu	37	17	39553754	39553754	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr17:39553754C>T	ENST00000251645.2	-	1	90	c.38G>A	c.(37-39)cGc>cAc	p.R13H		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	13	Head.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				GCAGCTGGTGCGGCAGCTCAG	0.647000													8	21					0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142563850	142563850	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr7:142563850G>T	ENST00000392957.2	+	9	2025	c.1238G>T	c.(1237-1239)cGc>cTc	p.R413L	EPHB6_ENST00000442129.1_Missense_Mutation_p.R413L|EPHB6_ENST00000411471.2_Missense_Mutation_p.R136L	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	413	Fibronectin type-III 1.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TGTGAAGGCCGCCAGGAACCT	0.637000													7	6					8.12818e-05	8.32404e-05	1	1	0
MYOCD	93649	broad.mit.edu	37	17	12620681	12620681	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr17:12620681C>T	ENST00000425538.1	+	4	396	c.196C>T	c.(196-198)Cgc>Tgc	p.R66C	MYOCD_ENST00000343344.4_Missense_Mutation_p.R66C	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	66					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TTCCCTGAAGCGCAAAGCCAG	0.398000													6	14					0	0	1	0	0
MAP3K19	80122	broad.mit.edu	37	2	135744115	135744115	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr2:135744115A>T	ENST00000375845.3	-	7	2357	c.2327T>A	c.(2326-2328)tTt>tAt	p.F776Y	MAP3K19_ENST00000392915.1_Missense_Mutation_p.F793Y|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.F663Y|MAP3K19_ENST00000392918.3_Intron	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		GGAAGATAGAAACTCATTTCC	0.403000													4	80					0	0	1	0	0
SPATA8	145946	broad.mit.edu	37	15	97328356	97328356	+	Nonstop_Mutation	SNP	T	T	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr15:97328356T>A	ENST00000558553.1	+	3	354	c.205T>A	c.(205-207)Tag>Aag	p.*69K	SPATA8_ENST00000328504.3_3'UTR			Q6RVD6	SPAT8_HUMAN	spermatogenesis associated 8	0										large_intestine(4)|lung(8)|ovary(1)|skin(3)	16	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			GATTTTTCAATAGTGTCCCTA	0.483000													24	64					0	0	1	0	0
PSD4	23550	broad.mit.edu	37	2	113950108	113950108	+	Missense_Mutation	SNP	C	C	T	rs117870995	by1000genomes	TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr2:113950108C>T	ENST00000441564.3	+	6	1865	c.1696C>T	c.(1696-1698)Cgc>Tgc	p.R566C	PSD4_ENST00000245796.6_Missense_Mutation_p.R594C			Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4		SEC7.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	p.R594C(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTTGGCCTCACGCCTCTATCG	0.597000													23	47					0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	148069037	148069037	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chrX:148069037G>T	ENST00000370460.2	+	20	4243	c.3764G>T	c.(3763-3765)cGg>cTg	p.R1255L	AFF2_ENST00000370457.5_Missense_Mutation_p.R1220L|AFF2_ENST00000286437.5_Missense_Mutation_p.R896L|AFF2_ENST00000342251.3_Missense_Mutation_p.R1222L	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1255					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AATGTGTTACGGGGCTATGAA	0.483000													38	87					4.17593e-13	4.5507e-13	1	1	0
OR2A5	393046	broad.mit.edu	37	7	143747664	143747664	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr7:143747664C>A	ENST00000408906.2	+	1	204	c.170C>A	c.(169-171)cCc>cAc	p.P57H		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					CTGCACACCCCCATGTACTTC	0.502000													42	73					7.63091e-17	8.53457e-17	1	1	0
SI	6476	broad.mit.edu	37	3	164730794	164730794	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr3:164730794T>C	ENST00000264382.3	-	34	4098	c.4036A>G	c.(4036-4038)Act>Gct	p.T1346A		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1346	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TCCGTTAGAGTTTTATCTATT	0.328000										HNSCC(35;0.089)			23	68					0	0	1	0	0
PCDHGB4	8641	broad.mit.edu	37	5	140769049	140769049	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr5:140769049G>A	ENST00000519479.1	+	1	1598	c.1598G>A	c.(1597-1599)cGc>cAc	p.R533H	PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCAGGCCCGCGACCAGGGC	0.677000													20	15					0	0	1	0	0
PCDH19	57526	broad.mit.edu	37	X	99662058	99662058	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chrX:99662058C>A	ENST00000373034.4	-	1	3213	c.1538G>T	c.(1537-1539)gGc>gTc	p.G513V	PCDH19_ENST00000420881.2_Missense_Mutation_p.G513V|PCDH19_ENST00000255531.7_Missense_Mutation_p.G513V	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	513	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GTAGATGTCGCCTGAGTTGGG	0.587000													39	60					8.73648e-17	9.64417e-17	1	1	0
ESAM	90952	broad.mit.edu	37	11	124624651	124624651	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr11:124624651G>A	ENST00000278927.5	-	5	745	c.616C>T	c.(616-618)Cgt>Tgt	p.R206C	ESAM_ENST00000442070.2_Missense_Mutation_p.R27C	NM_138961.2	NP_620411.2	Q96AP7	ESAM_HUMAN	endothelial cell adhesion molecule	206	Ig-like C2-type.				blood coagulation|leukocyte migration	adherens junction|integral to membrane|tight junction				endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)		AAAGACCCACGGATGACATCT	0.478000													30	63					0	0	1	0	0
CYP4F3	4051	broad.mit.edu	37	19	15770103	15770103	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr19:15770103G>A	ENST00000221307.8	+	13	1518	c.1471G>A	c.(1471-1473)Gtc>Atc	p.V491I	CYP4F3_ENST00000585846.1_Missense_Mutation_p.V491I|CYP4F3_ENST00000591058.1_Missense_Mutation_p.V491I|CYP4F3_ENST00000586182.2_Missense_Mutation_p.V491I	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3						leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	p.V491L(1)		endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						GCGCTTCCGCGTCCTGCCTGA	0.672000													9	19					0	0	1	0	0
SENP5	205564	broad.mit.edu	37	3	196654715	196654715	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr3:196654715G>A	ENST00000323460.5	+	8	2320	c.2071G>A	c.(2071-2073)Gaa>Aaa	p.E691K	SENP5_ENST00000419026.1_Missense_Mutation_p.E181K|SENP5_ENST00000445299.2_Missense_Mutation_p.E645K	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	691	Protease.				cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		AAATAGACCTGAATTTCTTCA	0.413000													23	22					0	0	1	0	0
TSC1	7248	broad.mit.edu	37	9	135798758	135798758	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr9:135798758G>A	ENST00000298552.3	-	6	706	c.485C>T	c.(484-486)tCa>tTa	p.S162L	TSC1_ENST00000545250.1_Missense_Mutation_p.S111L|TSC1_ENST00000475903.1_5'UTR|TSC1_ENST00000440111.2_Missense_Mutation_p.S162L|TSC1_ENST00000403810.1_Missense_Mutation_p.S162L	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	162					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding			NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		GCACCATGATGACAGACGGCC	0.433000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				15	33					0	0	1	0	0
COL17A1	1308	broad.mit.edu	37	10	105793848	105793848	+	Silent	SNP	A	A	G	rs147001132	byFrequency	TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr10:105793848A>G	ENST00000353479.5	-	52	4301	c.4011T>C	c.(4009-4011)taT>taC	p.Y1337Y	COL17A1_ENST00000369733.3_Silent_p.Y1255Y	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	1337	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TGTCAGTGCCATAGGGACCCC	0.617000													4	5					0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	70597851	70597851	+	Silent	SNP	C	C	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr7:70597851C>T	ENST00000333538.5	+	1	697	c.63C>T	c.(61-63)ttC>ttT	p.F21F		NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	21						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TAGCCGGCTTCGTGCTCTTCC	0.672000													3	19					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152279767	152279767	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr1:152279767G>A	ENST00000368799.1	-	3	7630	c.7595C>T	c.(7594-7596)tCg>tTg	p.S2532L	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2532	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGGTGACGCGACCCTGAGTG	0.597000									Ichthyosis				103	219					0	0	1	0	0
PDE11A	50940	broad.mit.edu	37	2	178936632	178936632	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr2:178936632G>A	ENST00000286063.6	-	1	850	c.533C>T	c.(532-534)tCg>tTg	p.S178L	PDE11A_ENST00000358450.4_Intron	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A						platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			ATTCACTCTCGATTCCAGCAG	0.537000									Primary Pigmented Nodular Adrenocortical Disease, Familial				35	63					0	0	1	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130766884	130766884	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr5:130766884C>T	ENST00000509018.1	-	26	4338	c.4133G>A	c.(4132-4134)aGc>aAc	p.S1378N	RAPGEF6_ENST00000307984.5_Missense_Mutation_p.S1391N|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.S1386N|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.S1386N|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.S1428N	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1378	Ser-rich.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		GTTTGGAAGGCTTTGGAAGTT	0.443000													21	63					0	0	1	0	0
NOBOX	135935	broad.mit.edu	37	7	144096876	144096876	+	Silent	SNP	G	G	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr7:144096876G>A	ENST00000467773.1	-	6	1127	c.1128C>T	c.(1126-1128)gcC>gcT	p.A376A	NOBOX_ENST00000483238.1_Silent_p.A344A|NOBOX_ENST00000223140.5_Silent_p.A259A	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	376					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					CAGGGCCAGGGGCTGCAGGAT	0.537000													3	17					0	0	1	0	0
LBH	81606	broad.mit.edu	37	2	30457270	30457270	+	Splice_Site	SNP	G	G	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr2:30457270G>T	ENST00000395323.3	+	2	234		c.e2-1		LBH_ENST00000404397.1_Splice_Site|LBH_ENST00000407930.2_Splice_Site|LBH_ENST00000406087.1_Splice_Site|LBH_ENST00000401506.1_Splice_Site|LBH_ENST00000467242.1_Splice_Site	NM_030915.3	NP_112177.2	Q53QV2	LBH_HUMAN	limb bud and heart development						multicellular organismal development|transcription, DNA-dependent	cytoplasm|nucleolus				endometrium(2)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(172;0.155)					TTTCTTGGCAGCCCCGACTAT	0.542000													21	42					2.21704e-12	2.38542e-12	1	1	0
KRTAP4-8	728224	broad.mit.edu	37	17	39254054	39254054	+	Missense_Mutation	SNP	A	A	T	rs76270529	by1000genomes	TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr17:39254054A>T	ENST00000333822.4	-	1	339	c.283T>A	c.(283-285)Tgc>Agc	p.C95S		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	95	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].					keratin filament		p.C95S(4)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						ctggagatgcagcagcTAGGG	0.677000													5	26					0	0	1	0	0
PHKA2	5256	broad.mit.edu	37	X	18912471	18912471	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chrX:18912471G>C	ENST00000379942.4	-	32	4053	c.3388C>G	c.(3388-3390)Cgc>Ggc	p.R1130G	PHKA2_ENST00000481718.1_5'UTR|PHKA2-AS1_ENST00000439295.1_RNA	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1130					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	p.R1130C(1)		NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TGCGGCACGCGGTTCAGCACC	0.602000													18	34					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51889804	51889804	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr6:51889804T>G	ENST00000371117.3	-	32	5079	c.4804A>C	c.(4804-4806)Aac>Cac	p.N1602H	PKHD1_ENST00000340994.4_Missense_Mutation_p.N1602H	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1602	IPT/TIG 11.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GACGTGGTGTTCTGTCCTCTC	0.498000													28	65					0	0	1	0	0
BCOR	54880	broad.mit.edu	37	X	39933842	39933842	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chrX:39933842C>T	ENST00000342274.4	-	4	1119	c.757G>A	c.(757-759)Gtc>Atc	p.V253I	BCOR_ENST00000378455.4_Missense_Mutation_p.V253I|BCOR_ENST00000397354.3_Missense_Mutation_p.V253I|BCOR_ENST00000378444.4_Missense_Mutation_p.V253I	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	253					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TGGGGACCGACGTAGTGAGGT	0.612000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						7	20					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82785657	82785657	+	Silent	SNP	C	C	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr7:82785657C>T	ENST00000333891.9	-	2	637	c.300G>A	c.(298-300)ccG>ccA	p.P100P	PCLO_ENST00000423517.2_Silent_p.P100P	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCCCAGGGTCCGGGGGTCTTC	0.418000													15	36					0	0	1	0	0
HGF	3082	broad.mit.edu	37	7	81339500	81339500	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr7:81339500G>A	ENST00000222390.5	-	13	1730	c.1504C>T	c.(1504-1506)Cga>Tga	p.R502*	HGF_ENST00000457544.2_Nonsense_Mutation_p.R497*	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	502	Peptidase S1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						ATGTTTGTTCGTGTTGGAATC	0.348000													15	74					0	0	1	0	0
CHN2	1124	broad.mit.edu	37	7	29535576	29535576	+	Silent	SNP	G	G	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr7:29535576G>A	ENST00000222792.6	+	8	1193	c.663G>A	c.(661-663)acG>acA	p.T221T	CHN2_ENST00000424025.2_Silent_p.T40T|CHN2_ENST00000539389.1_Silent_p.T77T|CHN2_ENST00000410098.1_3'UTR|CHN2_ENST00000439711.2_Silent_p.T85T|CHN2_ENST00000421775.2_Silent_p.T85T|CHN2_ENST00000495789.2_Silent_p.T234T|CHN2_ENST00000539406.1_Silent_p.T296T|CHN2_ENST00000435288.2_Intron|CHN2_ENST00000409041.4_Silent_p.T85T|CHN2_ENST00000546235.1_Silent_p.T206T	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	221					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						AGGTCCACACGTTCCGAGGCC	0.483000													28	47					0	0	1	0	0
NDST3	9348	broad.mit.edu	37	4	119064828	119064828	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr4:119064828G>A	ENST00000296499.5	+	6	1931	c.1528G>A	c.(1528-1530)Gtc>Atc	p.V510I	NDST3_ENST00000433996.2_Missense_Mutation_p.V429I	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	510	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CTTCACTGTCGTCCTCAACCC	0.428000													15	32					0	0	1	0	0
PRCP	5547	broad.mit.edu	37	11	82571020	82571020	+	Splice_Site	SNP	G	G	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr11:82571020G>A	ENST00000313010.3	-	2	502	c.308C>T	c.(307-309)aCg>aTg	p.T103M	PRCP_ENST00000535099.1_Intron|PRCP_ENST00000393399.2_Splice_Site_p.T124M	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	103					blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						TGCACATACCGTGTTATTACA	0.353000													8	31					0	0	1	0	0
PRSS12	8492	broad.mit.edu	37	4	119216148	119216148	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr4:119216148C>T	ENST00000296498.3	-	11	2267	c.1985G>A	c.(1984-1986)gGg>gAg	p.G662E	PRSS12_ENST00000510903.1_Intron	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	662	Peptidase S1.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						GAGCGTAGCCCCGCAGAGGAG	0.532000													12	17					0	0	1	0	0
L1CAM	3897	broad.mit.edu	37	X	153133300	153133300	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chrX:153133300G>A	ENST00000370060.1	-	16	2083	c.1894C>T	c.(1894-1896)Cgc>Tgc	p.R632C	L1CAM_ENST00000370055.1_Missense_Mutation_p.R627C|L1CAM_ENST00000538883.1_Missense_Mutation_p.R634C|L1CAM_ENST00000361699.4_Missense_Mutation_p.R632C|L1CAM_ENST00000361981.3_Missense_Mutation_p.R627C|L1CAM_ENST00000543994.1_Missense_Mutation_p.R634C|L1CAM_ENST00000370057.3_Missense_Mutation_p.R632C	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	632	Fibronectin type-III 1.		R -> P (in MASA).		axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		p.R632S(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGGACACGCGCACCTGGCTC	0.667000													25	62					0	0	1	0	0
ABCF2	10061	broad.mit.edu	37	7	150921894	150921894	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr7:150921894C>T	ENST00000287844.2	-	3	444	c.335G>A	c.(334-336)cGt>cAt	p.R112H	ABCF2_ENST00000222388.2_Missense_Mutation_p.R112H	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 2	112	ABC transporter 1.					ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCCATAACGACGGCCTGAGTT	0.463000													13	38					0	0	1	0	0
SNCA	6622	broad.mit.edu	37	4	90743488	90743488	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr4:90743488G>A	ENST00000394989.2	-	3	435	c.173C>T	c.(172-174)aCg>aTg	p.T58M	SNCA_ENST00000508895.1_Missense_Mutation_p.T72M|SNCA_ENST00000505199.1_Missense_Mutation_p.T58M|SNCA_ENST00000394986.1_Missense_Mutation_p.T72M|SNCA_ENST00000420646.2_Missense_Mutation_p.T72M|SNCA_ENST00000506244.1_Missense_Mutation_p.T72M|SNCA_ENST00000345009.4_Missense_Mutation_p.T72M|SNCA_ENST00000336904.3_Missense_Mutation_p.T72M|SNCA_ENST00000502987.1_Missense_Mutation_p.T72M|SNCA_ENST00000394991.3_Missense_Mutation_p.T72M			P37840	SYUA_HUMAN	synuclein, alpha (non A4 component of amyloid precursor)	72	4 X 11 AA tandem repeats of [EGS]-K-T-K- [EQ]-[GQ]-V-X(4).				activation of caspase activity|anti-apoptosis|negative regulation of dopamine uptake|negative regulation of exocytosis|negative regulation of histone acetylation|negative regulation of microtubule polymerization|negative regulation of monooxygenase activity|negative regulation of norepinephrine uptake|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of serotonin uptake|negative regulation of thrombin receptor signaling pathway|negative regulation of transporter activity|positive regulation of endocytosis|positive regulation of inositol phosphate biosynthetic process|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein serine/threonine kinase activity|positive regulation of receptor recycling|positive regulation of release of sequestered calcium ion into cytosol|receptor internalization|regulation of phospholipase activity|response to interferon-gamma|response to interleukin-1|response to iron(II) ion|response to lipopolysaccharide|response to magnesium ion|synaptic vesicle endocytosis	actin cytoskeleton|axon|cell cortex|cell junction|cytosol|fibril|growth cone|nucleus|synapse	alpha-tubulin binding|calcium ion binding|caspase inhibitor activity|dynein binding|ferrous iron binding|histone binding|Hsp70 protein binding|kinesin binding|magnesium ion binding|phosphoprotein binding|tau protein binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)	8		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.42e-05)	Melatonin(DB01065)	TGTCACACCCGTCACCACTGC	0.502000													15	25					0	0	1	0	0
OR6K3	391114	broad.mit.edu	37	1	158687191	158687191	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr1:158687191T>G	ENST00000368146.1	-	1	762	c.763A>C	c.(763-765)Acc>Ccc	p.T255P	OR6K3_ENST00000368145.1_Missense_Mutation_p.T239P			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					CCTGCACAGGTAGAAAAAGCC	0.453000													26	33					0	0	1	0	0
TDRD3	81550	broad.mit.edu	37	13	61103049	61103049	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr13:61103049A>G	ENST00000196169.3	+	11	2199	c.1411A>G	c.(1411-1413)Att>Gtt	p.I471V	TDRD3_ENST00000377894.2_Missense_Mutation_p.I471V|TDRD3_ENST00000377881.2_Missense_Mutation_p.I471V|TDRD3_ENST00000535286.1_Missense_Mutation_p.I564V	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	471					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		TGGTATAAAAATTGAAAAACA	0.303000													3	30					0	0	1	0	0
TUBGCP5	114791	broad.mit.edu	37	15	22835954	22835954	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr15:22835954A>G	ENST00000283645.4	+	2	315	c.185A>G	c.(184-186)gAa>gGa	p.E62G	TUBGCP5_ENST00000453949.2_Missense_Mutation_p.E62G	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	62					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		CACAAAATAGAAAAAACAATC	0.313000													52	85					0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45401122	45401122	+	Silent	SNP	G	G	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr15:45401122G>A	ENST00000389039.6	-	12	1648	c.1263C>T	c.(1261-1263)tcC>tcT	p.S421S	DUOX2_ENST00000603300.1_Silent_p.S421S			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	421	Peroxidase-like; mediates peroxidase activity (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		AGTCTGTACGGGAGAATTTGC	0.557000													12	41					0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43581598	43581598	+	Splice_Site	SNP	G	G	C			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr7:43581598G>C	ENST00000395891.2	+	26	4853		c.e26+1		HECW1_ENST00000453890.1_Splice_Site	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TTTTGGACAGGTTTGTGTGAC	0.368000													26	126					0	0	1	0	0
MT1HL1	645745	broad.mit.edu	37	1	237167625	237167625	+	Silent	SNP	G	G	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr1:237167625G>A	ENST00000464121.2	-	1	93	c.48C>T	c.(46-48)gcC>gcT	p.A16A		NM_001276687.1	NP_001263616.1			metallothionein 1H-like 1																		TGCAGGAGCCGGCGCAGGCGT	0.627000													8	18					0	0	1	0	0
AGBL5	60509	broad.mit.edu	37	2	27278054	27278054	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr2:27278054C>T	ENST00000360131.4	+	6	1000	c.841C>T	c.(841-843)Cgt>Tgt	p.R281C	AGBL5_ENST00000323064.8_Missense_Mutation_p.R281C	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	281					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAAACCCTCCGTCGCCTCTT	0.557000													41	71					0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15839063	15839063	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr16:15839063C>T	ENST00000452625.2	-	21	2551	c.2464G>A	c.(2464-2466)Gcc>Acc	p.A822T	MYH11_ENST00000300036.5_Missense_Mutation_p.A815T|MYH11_ENST00000396324.3_Missense_Mutation_p.A822T|MYH11_ENST00000576790.2_Missense_Mutation_p.A815T	NM_001040113.1	NP_001035202.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	815					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						ACCTTCATGGCGGTCAGCTGC	0.617000			T	CBFB	AML								22	42					0	0	1	0	0
DLG5	9231	broad.mit.edu	37	10	79571808	79571808	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr10:79571808C>T	ENST00000372391.2	-	22	4201	c.4196G>A	c.(4195-4197)gGc>gAc	p.G1399D	DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Missense_Mutation_p.G1059D	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1399	PDZ 3.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CAGGTTTATGCCGTTGAACTG	0.642000													3	37					0	0	1	0	0
SLC35F3	148641	broad.mit.edu	37	1	234041399	234041399	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr1:234041399G>A	ENST00000366618.3	+	2	323	c.178G>A	c.(178-180)Gtg>Atg	p.V60M		NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	0					transport	integral to membrane		p.V60L(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			GTCGCGCTCCGTGGAGGATCT	0.642000													23	39					0	0	1	0	0
DLGAP5	9787	broad.mit.edu	37	14	55619340	55619340	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr14:55619340G>T	ENST00000247191.2	-	16	2305	c.2089C>A	c.(2089-2091)Cct>Act	p.P697T	DLGAP5_ENST00000395425.2_Missense_Mutation_p.P697T	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	697					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						GGTAATCCAGGACACTGAGCA	0.323000													5	16					1.23904e-05	1.30023e-05	1	1	0
SPAG17	200162	broad.mit.edu	37	1	118558706	118558706	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr1:118558706A>C	ENST00000336338.5	-	29	4234	c.4169T>G	c.(4168-4170)aTa>aGa	p.I1390R		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1390						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CCAGGTGCCTATGTGAACCTC	0.468000													26	53					0	0	1	0	0
SLC25A53	401612	broad.mit.edu	37	X	103349186	103349186	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chrX:103349186C>A	ENST00000357421.4	-	2	935	c.755G>T	c.(754-756)tGg>tTg	p.W252L		NM_001012755.3	NP_001012773.2	Q5H9E4	MCAR6_HUMAN	solute carrier family 25, member 53	252					transport	integral to membrane|mitochondrial inner membrane											GGCAGAGGCCCACAGGCTTGG	0.532000													16	28					3.45872e-05	3.58526e-05	1	1	0
FAM71B	153745	broad.mit.edu	37	5	156589604	156589604	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr5:156589604C>T	ENST00000302938.4	-	2	1767	c.1672G>A	c.(1672-1674)Gta>Ata	p.V558I		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	558						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACGATATCTACCTCTCTGTCA	0.483000													61	145					0	0	1	0	0
MIR548I2	100302277	broad.mit.edu	37	4	9557805	9557805	+	RNA	SNP	C	C	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr4:9557805C>T	ENST00000408348.1	-	0	132					NR_031688.1																						GGATCAGGGACGAACTTTGTT	0.383000													58	121					0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153174271	153174271	+	Silent	SNP	C	C	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr5:153174271C>T	ENST00000285900.5	+	14	2704	c.2361C>T	c.(2359-2361)tgC>tgT	p.C787C	GRIA1_ENST00000521843.2_Silent_p.C718C|GRIA1_ENST00000518783.1_Silent_p.C797C|GRIA1_ENST00000518142.1_Silent_p.C707C|GRIA1_ENST00000340592.5_Intron|GRIA1_ENST00000448073.4_Intron	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	787					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AGGGCGAGTGCGGCAGCGGGG	0.458000													9	23					0	0	1	0	0
MPPED1	758	broad.mit.edu	37	22	43870690	43870690	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr22:43870690G>A	ENST00000417669.2	+	4	925	c.481G>A	c.(481-483)Gac>Aac	p.D161N	MPPED1_ENST00000439548.1_Missense_Mutation_p.D3N|MPPED1_ENST00000538182.1_Missense_Mutation_p.D194N|MPPED1_ENST00000414469.2_Missense_Mutation_p.D55N|MPPED1_ENST00000443721.1_Missense_Mutation_p.D161N|MPPED1_ENST00000542779.1_Missense_Mutation_p.D161N			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1								hydrolase activity			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				GTTCATGGCCGACCTCATCAA	0.542000													32	77					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77614192	77614192	+	Silent	SNP	C	C	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr3:77614192C>T	ENST00000461745.1	+	12	2670	c.1770C>T	c.(1768-1770)atC>atT	p.I590I	ROBO2_ENST00000332191.8_Silent_p.I590I|ROBO2_ENST00000487694.3_Silent_p.I606I	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	590	Fibronectin type-III 1.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CCAATACAATCTACTTATTCA	0.507000													13	41					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176863937	176863937	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr1:176863937G>A	ENST00000367654.3	-	17	2936	c.2725C>T	c.(2725-2727)Cgg>Tgg	p.R909W	ASTN1_ENST00000424564.2_Missense_Mutation_p.R901W|ASTN1_ENST00000367657.3_Missense_Mutation_p.R901W|ASTN1_ENST00000361833.2_Missense_Mutation_p.R901W	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1						cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCTCTTTCCCGCTCCTCAGAC	0.532000													55	95					0	0	1	0	0
ST14	6768	broad.mit.edu	37	11	130079588	130079588	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr11:130079588A>G	ENST00000278742.5	+	19	2856	c.2438A>G	c.(2437-2439)gAg>gGg	p.E813G		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	813	Peptidase S1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	TCCAGCGTGGAGGCGGATGGG	0.692000													3	26					0	0	1	0	0
CXXC11	285093	broad.mit.edu	37	2	242814228	242814228	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr2:242814228C>T	ENST00000343216.3	+	2	549	c.521C>T	c.(520-522)aCg>aTg	p.T174M		NM_173821.2	NP_776182.2	Q14D33	CB085_HUMAN	CXXC finger protein 11	174						integral to membrane											TTCCCCGCCACGGCCTGGGGT	0.677000													5	5					0	0	1	0	0
ADAMTS4	9507	broad.mit.edu	37	1	161168155	161168156	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr1:161168155_161168156insAG	ENST00000367996.5	-	1	690_691	c.262_263insCT	c.(262-264)tttfs	p.F88fs	ADAMTS4_ENST00000367995.3_Frame_Shift_Ins_p.F88fs	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4						proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CGTCTCCCCAAAGGCCTGCAAG	0.668													9	16	---	---	---	---					
PSME4	23198	broad.mit.edu	37	2	54123990	54123990	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr2:54123990delT	ENST00000404125.1	-	32	3694	c.3639delA	c.(3637-3639)aaafs	p.K1213fs	PSME4_ENST00000421748.2_Frame_Shift_Del_p.K357fs	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1213					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TTTTTAGCTGTTTAAGGATAC	0.348													74	174	---	---	---	---					
KTN1-AS1	100129075	broad.mit.edu	37	14	56014174	56014174	+	RNA	DEL	G	G	-	rs72015246		TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr14:56014174delG	ENST00000554558.1	-	0	364																											aaaaaaaaaagaaTTGGCACA	0.443													3	4	---	---	---	---					
LA16c-306E5.3	0	broad.mit.edu	37	16	3546141	3546141	+	RNA	DEL	A	A	-	rs74546027		TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr16:3546141delA	ENST00000574423.2	+	0	111																											actccgtctcaaaaaaaaaaa	0.557													3	5	---	---	---	---					
TSPAN10	83882	broad.mit.edu	37	17	79614933	79614936	+	RNA	DEL	TAAC	TAAC	-	rs137956393		TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr17:79614933_79614936delTAAC	ENST00000328585.4	+	0	771				TSPAN10_ENST00000572675.1_RNA	NM_031945.3	NP_114151.3	Q9H1Z9	TSN10_HUMAN	tetraspanin 10							integral to membrane				ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GCAGGTACTTTAACTAACTGCAGC	0.637													12	5	---	---	---	---					
TEX33	339669	broad.mit.edu	37	22	37387528	37387528	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr22:37387528delC	ENST00000405091.2	-	6	990	c.739delG	c.(739-741)gatfs	p.D247fs	TEX33_ENST00000402860.3_Frame_Shift_Del_p.D162fs|TEX33_ENST00000381821.1_Frame_Shift_Del_p.D247fs			O43247	EAN57_HUMAN	testis expressed 33	247																	TTACCCAGATCATCCGTCTTC	0.542													38	86	---	---	---	---					
