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
NEDD1	121441	broad.mit.edu	37	12	97303606	97303606	+	Silent	SNP	A	A	C			TCGA-86-7953-01A-11D-2184-08	TCGA-86-7953-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19ab51b6-eb35-457f-86e0-745f592fc50c	7c1a85a3-439d-42ac-b900-d1c0b36c778f	g.chr12:97303606A>C	ENST00000266742.4	+	3	408	c.69A>C	c.(67-69)acA>acC	p.T23T	NEDD1_ENST00000411739.2_Intron|NEDD1_ENST00000429527.2_Silent_p.T23T|NEDD1_ENST00000555114.1_Intron|NEDD1_ENST00000557644.1_Silent_p.T30T	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	23					cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						CATCTATGACATTGGTGGATA	0.363000													23	72					0	0	1	0	0
PPP4C	5531	broad.mit.edu	37	16	30087726	30087726	+	Nonsense_Mutation	SNP	C	C	T			TCGA-86-7953-01A-11D-2184-08	TCGA-86-7953-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19ab51b6-eb35-457f-86e0-745f592fc50c	7c1a85a3-439d-42ac-b900-d1c0b36c778f	g.chr16:30087726C>T	ENST00000279387.7	+	2	196	c.28C>T	c.(28-30)Cag>Tag	p.Q10*	PPP4C_ENST00000561610.1_Nonsense_Mutation_p.Q10*	NM_002720.1	NP_002711.1	P60510	PP4C_HUMAN	protein phosphatase 4, catalytic subunit	10					microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination	centrosome|nucleus	metal ion binding|NF-kappaB-inducing kinase activity|protein binding|protein serine/threonine phosphatase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						CCTGGACCGGCAGATCGAGCA	0.701000													12	35					0	0	1	0	0
NMS	129521	broad.mit.edu	37	2	101095849	101095849	+	Missense_Mutation	SNP	C	C	G			TCGA-86-7953-01A-11D-2184-08	TCGA-86-7953-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19ab51b6-eb35-457f-86e0-745f592fc50c	7c1a85a3-439d-42ac-b900-d1c0b36c778f	g.chr2:101095849C>G	ENST00000376865.1	+	6	303	c.296C>G	c.(295-297)gCc>gGc	p.A99G		NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN	neuromedin S	99					neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						CACCTGGCTGCCAAGCTCGCC	0.527000													18	62					0	0	1	0	0
SEMA6D	80031	broad.mit.edu	37	15	48062769	48062769	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7953-01A-11D-2184-08	TCGA-86-7953-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19ab51b6-eb35-457f-86e0-745f592fc50c	7c1a85a3-439d-42ac-b900-d1c0b36c778f	g.chr15:48062769C>A	ENST00000316364.5	+	19	2448	c.2009C>A	c.(2008-2010)gCt>gAt	p.A670D	SEMA6D_ENST00000536845.2_Missense_Mutation_p.A670D|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000389433.2_Missense_Mutation_p.A651D|SEMA6D_ENST00000389432.2_Missense_Mutation_p.A627D|SEMA6D_ENST00000358066.4_Missense_Mutation_p.A608D|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000354744.4_Missense_Mutation_p.A614D|SEMA6D_ENST00000389428.3_Missense_Mutation_p.A595D|SEMA6D_ENST00000537942.1_Missense_Mutation_p.A608D|SEMA6D_ENST00000558014.1_Missense_Mutation_p.A608D	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	670					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TGTGTCTTTGCTGCTTTTGTT	0.458000													27	118					9.04412e-07	9.77743e-07	1	1	0
VCAN	1462	broad.mit.edu	37	5	82786059	82786059	+	Silent	SNP	G	G	T			TCGA-86-7953-01A-11D-2184-08	TCGA-86-7953-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19ab51b6-eb35-457f-86e0-745f592fc50c	7c1a85a3-439d-42ac-b900-d1c0b36c778f	g.chr5:82786059G>T	ENST00000265077.3	+	3	778	c.213G>T	c.(211-213)gtG>gtT	p.V71V	VCAN_ENST00000343200.5_Silent_p.V71V|VCAN_ENST00000342785.4_Silent_p.V71V|VCAN_ENST00000513984.1_Silent_p.V71V|VCAN_ENST00000512590.2_Silent_p.V23V|VCAN_ENST00000502527.2_Silent_p.V71V	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	71	Ig-like V-type.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AGATTGAAGTGGACAAAAATG	0.423000													26	78					4.22769e-11	5.12448e-11	1	1	0
TAOK1	57551	broad.mit.edu	37	17	27809235	27809235	+	Nonsense_Mutation	SNP	T	T	G			TCGA-86-7953-01A-11D-2184-08	TCGA-86-7953-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19ab51b6-eb35-457f-86e0-745f592fc50c	7c1a85a3-439d-42ac-b900-d1c0b36c778f	g.chr17:27809235T>G	ENST00000261716.3	+	8	1103	c.584T>G	c.(583-585)tTa>tGa	p.L195*	TAOK1_ENST00000536202.1_Nonsense_Mutation_p.L195*	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	195	Protein kinase.				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			GAAGTAATTTTAGCCATGGAT	0.318000													45	163					0	0	1	0	0
LTBP4	8425	broad.mit.edu	37	19	41133698	41133698	+	Silent	SNP	C	C	A			TCGA-86-7953-01A-11D-2184-08	TCGA-86-7953-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19ab51b6-eb35-457f-86e0-745f592fc50c	7c1a85a3-439d-42ac-b900-d1c0b36c778f	g.chr19:41133698C>A	ENST00000308370.7	+	33	4653	c.4653C>A	c.(4651-4653)ccC>ccA	p.P1551P	LTBP4_ENST00000396819.3_Silent_p.P1484P|LTBP4_ENST00000545697.1_3'UTR|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000204005.9_Silent_p.P1514P	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1552	EGF-like 15.				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGCGCGTCCCCGAAGGCTTCA	0.692000													2	3					0.0784	0.0784	1	1	0
PSMB9	5698	broad.mit.edu	37	6	32825852	32825852	+	Silent	SNP	C	C	A			TCGA-86-7953-01A-11D-2184-08	TCGA-86-7953-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19ab51b6-eb35-457f-86e0-745f592fc50c	7c1a85a3-439d-42ac-b900-d1c0b36c778f	g.chr6:32825852C>A	ENST00000395330.1	+	4	410	c.262C>A	c.(262-264)Cga>Aga	p.R88R	PSMB9_ENST00000453265.2_Silent_p.R67R|PSMB9_ENST00000374859.2_Silent_p.R111R			P28065	PSB9_HUMAN	proteasome (prosome, macropain) subunit, beta type, 9	111					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|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|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity	p.R111*(1)		large_intestine(4)|lung(4)|skin(1)	9						CTATAAATATCGAGAGGACTT	0.473000													40	59					2.46787e-29	3.18435e-29	1	1	0
OSBPL6	114880	broad.mit.edu	37	2	179248839	179248839	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7953-01A-11D-2184-08	TCGA-86-7953-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19ab51b6-eb35-457f-86e0-745f592fc50c	7c1a85a3-439d-42ac-b900-d1c0b36c778f	g.chr2:179248839C>A	ENST00000190611.4	+	18	2325	c.1949C>A	c.(1948-1950)cCa>cAa	p.P650Q	OSBPL6_ENST00000392505.2_Missense_Mutation_p.P675Q|OSBPL6_ENST00000359685.3_Missense_Mutation_p.P614Q|OSBPL6_ENST00000409631.1_Missense_Mutation_p.P614Q|OSBPL6_ENST00000315022.2_Missense_Mutation_p.P654Q|OSBPL6_ENST00000409045.3_Missense_Mutation_p.P619Q	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	650					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			CCATTCAACCCAGTCCTTGGG	0.443000													12	337					6.72482e-11	8.02964e-11	1	1	0
LRIG3	121227	broad.mit.edu	37	12	59266563	59266563	+	Missense_Mutation	SNP	C	C	T			TCGA-86-7953-01A-11D-2184-08	TCGA-86-7953-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19ab51b6-eb35-457f-86e0-745f592fc50c	7c1a85a3-439d-42ac-b900-d1c0b36c778f	g.chr12:59266563C>T	ENST00000320743.3	-	19	3437	c.3151G>A	c.(3151-3153)Gat>Aat	p.D1051N	LRIG3_ENST00000379141.4_Missense_Mutation_p.D991N	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	1051						integral to membrane		p.D1051N(1)	LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			GAATAGGCATCTAGGTGAGGT	0.453000			T	ROS1	NSCLC								8	92					0	0	1	0	0
SLC30A1	7779	broad.mit.edu	37	1	211749519	211749519	+	Missense_Mutation	SNP	C	C	G			TCGA-86-7953-01A-11D-2184-08	TCGA-86-7953-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19ab51b6-eb35-457f-86e0-745f592fc50c	7c1a85a3-439d-42ac-b900-d1c0b36c778f	g.chr1:211749519C>G	ENST00000367001.4	-	2	864	c.735G>C	c.(733-735)atG>atC	p.M245I		NM_021194.2	NP_067017.2	Q9Y6M5	ZNT1_HUMAN	solute carrier family 30 (zinc transporter), member 1	245					cadmium ion transmembrane transport|cellular calcium ion homeostasis|cellular zinc ion homeostasis|negative regulation of calcium ion import|negative regulation of neurotransmitter secretion|negative regulation of zinc ion import	integral to membrane|T-tubule	calcium channel inhibitor activity|zinc ion transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(3)|prostate(1)	11				OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978)		AAACTCCACGCATGTTAAGTT	0.423000													5	62					0	0	1	0	0
XRCC5	7520	broad.mit.edu	37	2	216990664	216990664	+	Silent	SNP	C	C	G			TCGA-86-7953-01A-11D-2184-08	TCGA-86-7953-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19ab51b6-eb35-457f-86e0-745f592fc50c	7c1a85a3-439d-42ac-b900-d1c0b36c778f	g.chr2:216990664C>G	ENST00000392133.3	+	9	1169	c.708C>G	c.(706-708)gtC>gtG	p.V236V	XRCC5_ENST00000392132.2_Silent_p.V236V			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	236					double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		AACTGTGCGTCTTCAAGAAAA	0.373000								Non-homologous end-joining					7	113					0	0	1	0	0
FBXL12	54850	broad.mit.edu	37	19	9922278	9922278	+	Missense_Mutation	SNP	G	G	C			TCGA-86-7953-01A-11D-2184-08	TCGA-86-7953-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19ab51b6-eb35-457f-86e0-745f592fc50c	7c1a85a3-439d-42ac-b900-d1c0b36c778f	g.chr19:9922278G>C	ENST00000247977.4	-	3	516	c.275C>G	c.(274-276)gCt>gGt	p.A92G	FBXL12_ENST00000586469.1_Missense_Mutation_p.L68V|FBXL12_ENST00000588922.1_3'UTR|FBXL12_ENST00000591009.1_Missense_Mutation_p.A39G|FBXL12_ENST00000589626.1_3'UTR|FBXL12_ENST00000585379.1_Missense_Mutation_p.A39G|FBXL12_ENST00000586651.1_3'UTR|FBXL12_ENST00000592067.1_3'UTR	NM_017703.1	NP_060173.1	Q9NXK8	FXL12_HUMAN	F-box and leucine-rich repeat protein 12	92							protein binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2)	10						TCTCAACAGAGCAGGGGACAA	0.647000													13	65					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-86-7953-01A-11D-2184-08	TCGA-86-7953-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19ab51b6-eb35-457f-86e0-745f592fc50c	7c1a85a3-439d-42ac-b900-d1c0b36c778f	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			11	33					0	0	1	0	0
MS4A8	83661	broad.mit.edu	37	11	60468332	60468332	+	Splice_Site	SNP	G	G	A			TCGA-86-7953-01A-11D-2184-08	TCGA-86-7953-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19ab51b6-eb35-457f-86e0-745f592fc50c	7c1a85a3-439d-42ac-b900-d1c0b36c778f	g.chr11:60468332G>A	ENST00000300226.2	+	2	202		c.e2-1			NM_031457.1	NP_113645.1			membrane-spanning 4-domains, subfamily A, member 8																		TTTCTTGGCAGCATGAATTCG	0.453000													5	177					0	0	1	0	0
NR3C2	4306	broad.mit.edu	37	4	149356661	149356661	+	Missense_Mutation	SNP	G	G	A			TCGA-86-7953-01A-11D-2184-08	TCGA-86-7953-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19ab51b6-eb35-457f-86e0-745f592fc50c	7c1a85a3-439d-42ac-b900-d1c0b36c778f	g.chr4:149356661G>A	ENST00000355292.3	-	2	1714	c.1352C>T	c.(1351-1353)cCa>cTa	p.P451L	NR3C2_ENST00000511528.1_Missense_Mutation_p.P451L|NR3C2_ENST00000342437.4_Missense_Mutation_p.P451L|NR3C2_ENST00000358102.3_Missense_Mutation_p.P451L|NR3C2_ENST00000344721.4_Missense_Mutation_p.P451L|NR3C2_ENST00000512865.1_Missense_Mutation_p.P451L			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	451	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	ATCCATAAATGGAAACGGGTT	0.393000													15	61					0	0	1	0	0
FNBP4	23360	broad.mit.edu	37	11	47772566	47772566	+	Missense_Mutation	SNP	T	T	G			TCGA-86-7953-01A-11D-2184-08	TCGA-86-7953-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19ab51b6-eb35-457f-86e0-745f592fc50c	7c1a85a3-439d-42ac-b900-d1c0b36c778f	g.chr11:47772566T>G	ENST00000263773.5	-	6	820	c.808A>C	c.(808-810)Agt>Cgt	p.S270R	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	270										NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						ACCACAAAACTAGTTTCAGCA	0.338000													3	60					0	0	1	0	0
EPS8L1	54869	broad.mit.edu	37	19	55597298	55597298	+	Missense_Mutation	SNP	G	G	A			TCGA-86-7953-01A-11D-2184-08	TCGA-86-7953-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19ab51b6-eb35-457f-86e0-745f592fc50c	7c1a85a3-439d-42ac-b900-d1c0b36c778f	g.chr19:55597298G>A	ENST00000201647.6	+	15	1531	c.1475G>A	c.(1474-1476)cGc>cAc	p.R492H	EPS8L1_ENST00000540810.1_Missense_Mutation_p.R428H|EPS8L1_ENST00000588359.1_Missense_Mutation_p.R178H|EPS8L1_ENST00000586329.1_Missense_Mutation_p.R506H|EPS8L1_ENST00000245618.5_Missense_Mutation_p.R365H	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	492	SH3.					cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		TTCCAGGCCCGCAACAGCAGT	0.577000													3	55					0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65423206	65423206	+	Splice_Site	SNP	G	G	T			TCGA-86-7953-01A-11D-2184-08	TCGA-86-7953-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19ab51b6-eb35-457f-86e0-745f592fc50c	7c1a85a3-439d-42ac-b900-d1c0b36c778f	g.chrX:65423206G>T	ENST00000519389.1	+	13	2419	c.2239_splice	c.e13-1	p.G747_splice	HEPH_ENST00000336279.5_Splice_Site_p.G426_splice|HEPH_ENST00000441993.2_Splice_Site_p.G696_splice|HEPH_ENST00000343002.2_Splice_Site_p.G693_splice|HEPH_ENST00000374727.3_Splice_Site_p.G696_splice|HEPH_ENST00000419594.1_Splice_Site_p.G504_splice			Q9BQS7	HEPH_HUMAN	hephaestin	693	Plastocyanin-like 5.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CCTCCCTCAGGGACATTTGAG	0.527000													18	54					1.96292e-10	2.30932e-10	1	1	0
CDH15	1013	broad.mit.edu	37	16	89251625	89251625	+	Missense_Mutation	SNP	G	G	A			TCGA-86-7953-01A-11D-2184-08	TCGA-86-7953-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19ab51b6-eb35-457f-86e0-745f592fc50c	7c1a85a3-439d-42ac-b900-d1c0b36c778f	g.chr16:89251625G>A	ENST00000289746.2	+	5	612	c.547G>A	c.(547-549)Gag>Aag	p.E183K		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	183	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		CGACGACCCCGAGACGGACAA	0.657000													5	14					0	0	1	0	0
SERPINB4	6318	broad.mit.edu	37	18	61304984	61304984	+	Missense_Mutation	SNP	A	A	T			TCGA-86-7953-01A-11D-2184-08	TCGA-86-7953-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19ab51b6-eb35-457f-86e0-745f592fc50c	7c1a85a3-439d-42ac-b900-d1c0b36c778f	g.chr18:61304984A>T	ENST00000341074.5	-	8	1257	c.1142T>A	c.(1141-1143)aTc>aAc	p.I381N	SERPINB4_ENST00000356424.6_Missense_Mutation_p.I329N	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						ATAGAAGAGGATGCTGTTGGT	0.398000													27	177					0	0	1	0	0
C8A	731	broad.mit.edu	37	1	57333290	57333290	+	Missense_Mutation	SNP	G	G	A			TCGA-86-7953-01A-11D-2184-08	TCGA-86-7953-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19ab51b6-eb35-457f-86e0-745f592fc50c	7c1a85a3-439d-42ac-b900-d1c0b36c778f	g.chr1:57333290G>A	ENST00000361249.3	+	2	182	c.86G>A	c.(85-87)aGa>aAa	p.R29K		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	29					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						AGGAGAGTAAGACGGGCAGCT	0.453000													42	80					0	0	1	0	0
SERPINB5	5268	broad.mit.edu	37	18	61154281	61154281	+	Missense_Mutation	SNP	C	C	T			TCGA-86-7953-01A-11D-2184-08	TCGA-86-7953-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19ab51b6-eb35-457f-86e0-745f592fc50c	7c1a85a3-439d-42ac-b900-d1c0b36c778f	g.chr18:61154281C>T	ENST00000382771.4	+	3	563	c.271C>T	c.(271-273)Cgg>Tgg	p.R91W	SERPINB5_ENST00000489441.1_Missense_Mutation_p.R91W	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	91					cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						ACTAATCAAGCGGCTCTACGT	0.343000													4	59					0	0	1	0	0
GIGYF2	26058	broad.mit.edu	37	2	233660930	233660930	+	Splice_Site	SNP	A	A	T			TCGA-86-7953-01A-11D-2184-08	TCGA-86-7953-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19ab51b6-eb35-457f-86e0-745f592fc50c	7c1a85a3-439d-42ac-b900-d1c0b36c778f	g.chr2:233660930A>T	ENST00000373566.3	+	15	1901	c.1705_splice	c.e15+1	p.Q568_splice	GIGYF2_ENST00000373563.4_Splice_Site_p.Q546_splice|GIGYF2_ENST00000409451.3_Splice_Site_p.Q567_splice|GIGYF2_ENST00000409547.1_Splice_Site_p.Q546_splice|GIGYF2_ENST00000409480.1_Splice_Site_p.Q568_splice|GIGYF2_ENST00000409196.3_Splice_Site_p.Q540_splice|GIGYF2_ENST00000452341.2_Splice_Site_p.Q377_splice			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	546	GYF.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GAGAAATTCAAGGCAAGTTGT	0.368000													4	138					0	0	1	0	0
FRMD4B	23150	broad.mit.edu	37	3	69230696	69230696	+	Silent	SNP	T	T	C			TCGA-86-7953-01A-11D-2184-08	TCGA-86-7953-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19ab51b6-eb35-457f-86e0-745f592fc50c	7c1a85a3-439d-42ac-b900-d1c0b36c778f	g.chr3:69230696T>C	ENST00000542259.1	-	22	2494	c.2043A>G	c.(2041-2043)caA>caG	p.Q681Q	FRMD4B_ENST00000478263.1_Silent_p.Q387Q|FRMD4B_ENST00000398540.3_Silent_p.Q735Q			Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	735						cytoplasm|cytoskeleton	binding			NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		CTGTGCTTGATTGGCTTGTAT	0.512000													27	81					0	0	1	0	0
CCT6A	908	broad.mit.edu	37	7	56126203	56126203	+	Missense_Mutation	SNP	A	A	G			TCGA-86-7953-01A-11D-2184-08	TCGA-86-7953-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19ab51b6-eb35-457f-86e0-745f592fc50c	7c1a85a3-439d-42ac-b900-d1c0b36c778f	g.chr7:56126203A>G	ENST00000275603.4	+	7	1093	c.874A>G	c.(874-876)Att>Gtt	p.I292V	CCT6A_ENST00000540286.1_Missense_Mutation_p.I261V|CCT6A_ENST00000335503.3_Missense_Mutation_p.I247V	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	292					'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ATTTGTTGTTATTAATCAAAA	0.274000													15	45					0	0	1	0	0
PPEF1	5475	broad.mit.edu	37	X	18802165	18802165	+	Splice_Site	SNP	A	A	T			TCGA-86-7953-01A-11D-2184-08	TCGA-86-7953-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19ab51b6-eb35-457f-86e0-745f592fc50c	7c1a85a3-439d-42ac-b900-d1c0b36c778f	g.chrX:18802165A>T	ENST00000361511.4	+	12	1405	c.912_splice	c.e12+1	p.K304_splice	PPEF1_ENST00000543630.1_Splice_Site_p.K304_splice|PPEF1_ENST00000544635.1_Splice_Site_p.K239_splice|PPEF1_ENST00000359763.6_Splice_Site_p.K251_splice|PPEF1_ENST00000349874.5_Splice_Site_p.K304_splice	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	304	Catalytic.				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					GAGAGGAACAAGGTAAGAAGT	0.393000													14	109					0	0	1	0	0
KCNK18	338567	broad.mit.edu	37	10	118969188	118969188	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7953-01A-11D-2184-08	TCGA-86-7953-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19ab51b6-eb35-457f-86e0-745f592fc50c	7c1a85a3-439d-42ac-b900-d1c0b36c778f	g.chr10:118969188C>A	ENST00000334549.1	+	3	533	c.533C>A	c.(532-534)tCc>tAc	p.S178Y		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	178						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		CCCCTCCTCTCCAAGTGGTGC	0.512000													25	85					3.01185e-09	3.44211e-09	1	1	0
USP38	84640	broad.mit.edu	37	4	144109090	144109090	+	Missense_Mutation	SNP	C	C	T			TCGA-86-7953-01A-11D-2184-08	TCGA-86-7953-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19ab51b6-eb35-457f-86e0-745f592fc50c	7c1a85a3-439d-42ac-b900-d1c0b36c778f	g.chr4:144109090C>T	ENST00000307017.4	+	2	1300	c.794C>T	c.(793-795)gCa>gTa	p.A265V	USP38_ENST00000510377.1_Missense_Mutation_p.A265V	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	265					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					GTAAAAGATGCAAGTATGACC	0.398000													15	79					0	0	1	0	0
ARID5B	84159	broad.mit.edu	37	10	63851657	63851657	+	Missense_Mutation	SNP	A	A	G			TCGA-86-7953-01A-11D-2184-08	TCGA-86-7953-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19ab51b6-eb35-457f-86e0-745f592fc50c	7c1a85a3-439d-42ac-b900-d1c0b36c778f	g.chr10:63851657A>G	ENST00000279873.7	+	10	2845	c.2435A>G	c.(2434-2436)aAa>aGa	p.K812R	ARID5B_ENST00000309334.5_Missense_Mutation_p.K569R	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	812					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					GGCAAGGATAAACTCTTAGAG	0.537000													29	69					0	0	1	0	0
ZIC4	84107	broad.mit.edu	37	3	147114019	147114019	+	Missense_Mutation	SNP	A	A	T			TCGA-86-7953-01A-11D-2184-08	TCGA-86-7953-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19ab51b6-eb35-457f-86e0-745f592fc50c	7c1a85a3-439d-42ac-b900-d1c0b36c778f	g.chr3:147114019A>T	ENST00000383075.3	-	3	820	c.308T>A	c.(307-309)cTg>cAg	p.L103Q	ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000525172.2_Missense_Mutation_p.L153Q|ZIC4_ENST00000473123.1_Missense_Mutation_p.L103Q|ZIC4_ENST00000425731.3_Missense_Mutation_p.L141Q|ZIC4_ENST00000484399.1_Missense_Mutation_p.L103Q	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	103						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GTTCACCGTCAGGTTCATGCC	0.697000													3	17					0	0	1	0	0
RP11-252A24.2	0	broad.mit.edu	37	16	74372644	74372644	+	RNA	SNP	A	A	G			TCGA-86-7953-01A-11D-2184-08	TCGA-86-7953-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19ab51b6-eb35-457f-86e0-745f592fc50c	7c1a85a3-439d-42ac-b900-d1c0b36c778f	g.chr16:74372644A>G	ENST00000429810.2	-	0	1552																											TACCCTTGTCAGGGGGAACAA	0.443000													4	30					0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42719377	42719377	+	Missense_Mutation	SNP	A	A	C			TCGA-86-7953-01A-11D-2184-08	TCGA-86-7953-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19ab51b6-eb35-457f-86e0-745f592fc50c	7c1a85a3-439d-42ac-b900-d1c0b36c778f	g.chr5:42719377A>C	ENST00000230882.4	+	10	1958	c.1768A>C	c.(1768-1770)Atg>Ctg	p.M590L	GHR_ENST00000357703.3_Missense_Mutation_p.M568L|GHR_ENST00000537449.1_Missense_Mutation_p.M403L	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	590					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AGGTTCTGAGATGCCTGTCCC	0.507000													6	50					0	0	1	0	0
FAM13A	10144	broad.mit.edu	37	4	89688723	89688723	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7953-01A-11D-2184-08	TCGA-86-7953-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19ab51b6-eb35-457f-86e0-745f592fc50c	7c1a85a3-439d-42ac-b900-d1c0b36c778f	g.chr4:89688723C>A	ENST00000264344.5	-	13	1766	c.1559G>T	c.(1558-1560)gGa>gTa	p.G520V	FAM13A_ENST00000513837.1_Missense_Mutation_p.G166V|FAM13A_ENST00000503556.1_Missense_Mutation_p.G180V|FAM13A_ENST00000508369.1_Missense_Mutation_p.G194V|FAM13A_ENST00000395002.2_Missense_Mutation_p.G194V|FAM13A_ENST00000511976.1_Missense_Mutation_p.G106V	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	520					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						CTGAGTGTGTCCACCATCTTT	0.348000													7	59					1.12685e-05	1.18616e-05	1	1	0
CPS1	1373	broad.mit.edu	37	2	211459247	211459247	+	Missense_Mutation	SNP	T	T	C			TCGA-86-7953-01A-11D-2184-08	TCGA-86-7953-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19ab51b6-eb35-457f-86e0-745f592fc50c	7c1a85a3-439d-42ac-b900-d1c0b36c778f	g.chr2:211459247T>C	ENST00000233072.5	+	12	1376	c.1180T>C	c.(1180-1182)Ttt>Ctt	p.F394L	CPS1_ENST00000451903.2_5'UTR|CPS1_ENST00000430249.2_Missense_Mutation_p.F400L	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	394	Glutamine amidotransferase type-1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GTTTGATTCCTTTTTCTCACT	0.373000													3	43					0	0	1	0	0
IYD	389434	broad.mit.edu	37	6	150715311	150715311	+	Missense_Mutation	SNP	G	G	A			TCGA-86-7953-01A-11D-2184-08	TCGA-86-7953-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19ab51b6-eb35-457f-86e0-745f592fc50c	7c1a85a3-439d-42ac-b900-d1c0b36c778f	g.chr6:150715311G>A	ENST00000344419.3	+	4	747	c.607G>A	c.(607-609)Gca>Aca	p.A203T	IYD_ENST00000229447.5_Missense_Mutation_p.A203T|IYD_ENST00000425615.3_Missense_Mutation_p.A148T|IYD_ENST00000500320.3_Missense_Mutation_p.A203T|IYD_ENST00000392255.3_Missense_Mutation_p.A203T|IYD_ENST00000392256.2_Missense_Mutation_p.A203T	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase	203					cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		TGGTTTCGCCGCAAATGGCAA	0.433000													3	71					0	0	1	0	0
SMARCE1	6605	broad.mit.edu	37	17	38788570	38788570	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7953-01A-11D-2184-08	TCGA-86-7953-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19ab51b6-eb35-457f-86e0-745f592fc50c	7c1a85a3-439d-42ac-b900-d1c0b36c778f	g.chr17:38788570C>A	ENST00000348513.6	-	8	1371	c.591G>T	c.(589-591)caG>caT	p.Q197H	SMARCE1_ENST00000377808.4_Missense_Mutation_p.Q162H|KRT222_ENST00000476049.1_3'UTR|SMARCE1_ENST00000578044.1_Missense_Mutation_p.Q127H|SMARCE1_ENST00000580419.1_Missense_Mutation_p.Q162H|SMARCE1_ENST00000431889.2_Missense_Mutation_p.Q179H|SMARCE1_ENST00000544009.1_Missense_Mutation_p.Q127H|SMARCE1_ENST00000400122.3_Missense_Mutation_p.Q127H	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1	197					chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex	chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity			large_intestine(1)	1		Breast(137;0.000812)				GGTGGTTTCTCTGGAAACGGG	0.468000													21	69					1.50039e-11	1.87549e-11	1	1	0
PCDH10	57575	broad.mit.edu	37	4	134073783	134073783	+	Missense_Mutation	SNP	G	G	A			TCGA-86-7953-01A-11D-2184-08	TCGA-86-7953-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19ab51b6-eb35-457f-86e0-745f592fc50c	7c1a85a3-439d-42ac-b900-d1c0b36c778f	g.chr4:134073783G>A	ENST00000264360.4	+	1	3314	c.2488G>A	c.(2488-2490)Gcc>Acc	p.A830T		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	830					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CCCTGAGTCCGCCAAGACCGA	0.607000													22	62					0	0	1	0	0
TRIM51HP	440041	broad.mit.edu	37	11	55065453	55065453	+	RNA	SNP	T	T	C			TCGA-86-7953-01A-11D-2184-08	TCGA-86-7953-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19ab51b6-eb35-457f-86e0-745f592fc50c	7c1a85a3-439d-42ac-b900-d1c0b36c778f	g.chr11:55065453T>C	ENST00000526016.1	-	0	255					NR_038174.2																						CTTCTTTGTCTCTCTGTGCAT	0.473000													9	20					0	0	1	0	0
EFHC2	80258	broad.mit.edu	37	X	44088989	44088989	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7953-01A-11D-2184-08	TCGA-86-7953-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19ab51b6-eb35-457f-86e0-745f592fc50c	7c1a85a3-439d-42ac-b900-d1c0b36c778f	g.chrX:44088989G>T	ENST00000420999.1	-	11	1740	c.1657C>A	c.(1657-1659)Ctg>Atg	p.L553M		NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	553							calcium ion binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						TCTTGCTTCAGCTTTTGTAGG	0.383000													23	81					1.50538e-07	1.67265e-07	1	1	0
TTBK1	84630	broad.mit.edu	37	6	43251551	43251551	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7953-01A-11D-2184-08	TCGA-86-7953-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19ab51b6-eb35-457f-86e0-745f592fc50c	7c1a85a3-439d-42ac-b900-d1c0b36c778f	g.chr6:43251551G>T	ENST00000259750.4	+	14	3156	c.3073G>T	c.(3073-3075)Gcc>Tcc	p.A1025S		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	1025						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			AGACGGGCCAGCCCCGGTGTC	0.667000													10	61					7.03913e-09	7.93141e-09	1	1	0
KPNB1	3837	broad.mit.edu	37	17	45748079	45748079	+	Missense_Mutation	SNP	T	T	A			TCGA-86-7953-01A-11D-2184-08	TCGA-86-7953-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19ab51b6-eb35-457f-86e0-745f592fc50c	7c1a85a3-439d-42ac-b900-d1c0b36c778f	g.chr17:45748079T>A	ENST00000290158.4	+	12	1835	c.1428T>A	c.(1426-1428)agT>agA	p.S476R	KPNB1_ENST00000540627.1_Missense_Mutation_p.S331R|KPNB1_ENST00000537679.1_Missense_Mutation_p.S260R|KPNB1_ENST00000535458.2_Missense_Mutation_p.S331R	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	476					DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding			breast(1)|ovary(1)|pancreas(1)|skin(1)	4						CTTTCTCCAGTCTGGCTGAAG	0.418000													26	105					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A	rs77484671		TCGA-86-7953-01A-11D-2184-08	TCGA-86-7953-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19ab51b6-eb35-457f-86e0-745f592fc50c	7c1a85a3-439d-42ac-b900-d1c0b36c778f	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3455								p.E3455K(5)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423000													3	37					0	0	1	0	0
IGHD	3495	broad.mit.edu	37	14	106307374	106307374	+	RNA	SNP	C	C	T			TCGA-86-7953-01A-11D-2184-08	TCGA-86-7953-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19ab51b6-eb35-457f-86e0-745f592fc50c	7c1a85a3-439d-42ac-b900-d1c0b36c778f	g.chr14:106307374C>T	ENST00000390556.2	-	0	663																											GTTGCTGTGCCGCTCCAGCAG	0.667000													3	9					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9934805	9934805	+	Silent	SNP	T	T	A			TCGA-86-7953-01A-11D-2184-08	TCGA-86-7953-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19ab51b6-eb35-457f-86e0-745f592fc50c	7c1a85a3-439d-42ac-b900-d1c0b36c778f	g.chr16:9934805T>A	ENST00000396573.2	-	7	1794	c.1485A>T	c.(1483-1485)ggA>ggT	p.G495G	GRIN2A_ENST00000396575.2_Silent_p.G495G|GRIN2A_ENST00000562109.1_Silent_p.G495G|GRIN2A_ENST00000404927.2_Silent_p.G495G|GRIN2A_ENST00000330684.3_Silent_p.G495G|GRIN2A_ENST00000535259.1_Silent_p.G338G	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	495					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CACCGATCATTCCATTCCACA	0.418000													42	115					0	0	1	0	0
FAM13C	220965	broad.mit.edu	37	10	61028428	61028428	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7953-01A-11D-2184-08	TCGA-86-7953-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19ab51b6-eb35-457f-86e0-745f592fc50c	7c1a85a3-439d-42ac-b900-d1c0b36c778f	g.chr10:61028428C>A	ENST00000373867.3	-	9	1043	c.578G>T	c.(577-579)aGc>aTc	p.S193I	FAM13C_ENST00000468840.2_Missense_Mutation_p.S193I|FAM13C_ENST00000277705.6_Missense_Mutation_p.S297I|FAM13C_ENST00000419214.2_Missense_Mutation_p.S276I|FAM13C_ENST00000435852.2_Missense_Mutation_p.S276I|FAM13C_ENST00000422313.2_Missense_Mutation_p.S276I|FAM13C_ENST00000373868.2_Missense_Mutation_p.S276I|FAM13C_ENST00000442566.3_Missense_Mutation_p.S297I	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	276										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						ATCTCCACAGCTGCAGCGTGA	0.473000													9	51					2.17888e-05	2.26377e-05	1	1	0
WDR59	79726	broad.mit.edu	37	16	74957890	74957890	+	Silent	SNP	G	G	A			TCGA-86-7953-01A-11D-2184-08	TCGA-86-7953-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19ab51b6-eb35-457f-86e0-745f592fc50c	7c1a85a3-439d-42ac-b900-d1c0b36c778f	g.chr16:74957890G>A	ENST00000262144.6	-	9	793	c.663C>T	c.(661-663)taC>taT	p.Y221Y		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	221										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						GAGGCTGGCGGTAATCCCAGA	0.433000													3	31					0	0	1	0	0
UGT3A2	167127	broad.mit.edu	37	5	36036073	36036073	+	Nonsense_Mutation	SNP	G	G	C			TCGA-86-7953-01A-11D-2184-08	TCGA-86-7953-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19ab51b6-eb35-457f-86e0-745f592fc50c	7c1a85a3-439d-42ac-b900-d1c0b36c778f	g.chr5:36036073G>C	ENST00000282507.3	-	7	1400	c.1299C>G	c.(1297-1299)taC>taG	p.Y433*	UGT3A2_ENST00000545528.1_Nonsense_Mutation_p.Y131*|UGT3A2_ENST00000513300.1_Nonsense_Mutation_p.Y399*	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	433						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCGCGGACTTGTATCTGTTGA	0.547000													4	95					0	0	1	0	0
ABCG1	9619	broad.mit.edu	37	21	43702460	43702460	+	Missense_Mutation	SNP	G	G	A			TCGA-86-7953-01A-11D-2184-08	TCGA-86-7953-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19ab51b6-eb35-457f-86e0-745f592fc50c	7c1a85a3-439d-42ac-b900-d1c0b36c778f	g.chr21:43702460G>A	ENST00000398437.1	+	7	1251	c.1103G>A	c.(1102-1104)cGc>cAc	p.R368H	ABCG1_ENST00000398449.3_Missense_Mutation_p.R222H|ABCG1_ENST00000398457.2_Missense_Mutation_p.R224H|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000343687.3_Missense_Mutation_p.R233H|ABCG1_ENST00000347800.2_Missense_Mutation_p.R219H|ABCG1_ENST00000361802.2_Missense_Mutation_p.R222H|ABCG1_ENST00000340588.4_Missense_Mutation_p.R330H			P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	222					amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity	p.R222H(1)|p.R224H(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	GGTGGTCAGCGCAAGCGCCTG	0.607000													3	61					0	0	1	0	0
SRPK2	6733	broad.mit.edu	37	7	104783653	104783653	+	Missense_Mutation	SNP	A	A	G			TCGA-86-7953-01A-11D-2184-08	TCGA-86-7953-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19ab51b6-eb35-457f-86e0-745f592fc50c	7c1a85a3-439d-42ac-b900-d1c0b36c778f	g.chr7:104783653A>G	ENST00000357311.3	-	9	1076	c.905T>C	c.(904-906)aTa>aCa	p.I302T	SRPK2_ENST00000489828.1_Missense_Mutation_p.I302T|SRPK2_ENST00000393651.3_Missense_Mutation_p.I313T	NM_001278273.1|NM_182691.1	NP_001265202.1|NP_872633.1	P78362	SRPK2_HUMAN	SRSF protein kinase 2	302	Protein kinase.				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						GTTTTCTTCTATTATTTTCCT	0.448000													32	96					0	0	1	0	0
LTV1	84946	broad.mit.edu	37	6	144181578	144181578	+	Missense_Mutation	SNP	G	G	A			TCGA-86-7953-01A-11D-2184-08	TCGA-86-7953-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19ab51b6-eb35-457f-86e0-745f592fc50c	7c1a85a3-439d-42ac-b900-d1c0b36c778f	g.chr6:144181578G>A	ENST00000367576.5	+	7	945	c.811G>A	c.(811-813)Gat>Aat	p.D271N		NM_032860.3	NP_116249.2	Q96GA3	LTV1_HUMAN	LTV1 homolog (S. cerevisiae)	271										breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372)		TGAGCAATATGATGATGATGA	0.313000													21	96					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13370478	13370478	+	Missense_Mutation	SNP	C	C	T			TCGA-86-7953-01A-11D-2184-08	TCGA-86-7953-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19ab51b6-eb35-457f-86e0-745f592fc50c	7c1a85a3-439d-42ac-b900-d1c0b36c778f	g.chr19:13370478C>T	ENST00000360228.5	-	27	4287	c.4288G>A	c.(4288-4290)Gcg>Acg	p.A1430T	CACNA1A_ENST00000573710.2_Missense_Mutation_p.A1431T	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1431					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CGGTCTCGCGCCTTCACCTCA	0.532000													8	15					0	0	1	0	0
CH25H	9023	broad.mit.edu	37	10	90966519	90966519	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7953-01A-11D-2184-08	TCGA-86-7953-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19ab51b6-eb35-457f-86e0-745f592fc50c	7c1a85a3-439d-42ac-b900-d1c0b36c778f	g.chr10:90966519C>A	ENST00000371852.2	-	1	552	c.531G>T	c.(529-531)tgG>tgT	p.W177C		NM_003956.3	NP_003947.1	O95992	CH25H_HUMAN	cholesterol 25-hydroxylase	177					bile acid biosynthetic process|fatty acid biosynthetic process|sterol biosynthetic process	cytosol|endoplasmic reticulum membrane|integral to membrane	cholesterol 25-hydroxylase activity|iron ion binding			kidney(1)|large_intestine(2)|lung(3)|stomach(1)	7		Colorectal(252;0.0161)		GBM - Glioblastoma multiforme(2;0.000133)		AAAACAGTTCCCAGACGCTCA	0.572000													19	131					1.37657e-19	1.74802e-19	1	1	0
NKTR	4820	broad.mit.edu	37	3	42679747	42679747	+	Missense_Mutation	SNP	C	C	T			TCGA-86-7953-01A-11D-2184-08	TCGA-86-7953-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19ab51b6-eb35-457f-86e0-745f592fc50c	7c1a85a3-439d-42ac-b900-d1c0b36c778f	g.chr3:42679747C>T	ENST00000232978.8	+	13	2739	c.2551C>T	c.(2551-2553)Cgg>Tgg	p.R851W	RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	851					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		CAAGTCTGAACGGGAATGCCC	0.393000													13	31					0	0	1	0	0
NEUROD6	63974	broad.mit.edu	37	7	31378328	31378328	+	Silent	SNP	G	G	A			TCGA-86-7953-01A-11D-2184-08	TCGA-86-7953-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19ab51b6-eb35-457f-86e0-745f592fc50c	7c1a85a3-439d-42ac-b900-d1c0b36c778f	g.chr7:31378328G>A	ENST00000297142.3	-	2	877	c.555C>T	c.(553-555)gcC>gcT	p.A185A		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	185					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						GGAAACTCCTGGCGTTGAGCT	0.552000													6	82					0	0	1	0	0
ZNF789	285989	broad.mit.edu	37	7	99084745	99084745	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7953-01A-11D-2184-08	TCGA-86-7953-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19ab51b6-eb35-457f-86e0-745f592fc50c	7c1a85a3-439d-42ac-b900-d1c0b36c778f	g.chr7:99084745G>T	ENST00000331410.5	+	5	1182	c.912G>T	c.(910-912)caG>caT	p.Q304H	ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN	zinc finger protein 789	304					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TTCGACATCAGGTGATCCATA	0.383000													21	46					2.79863e-10	3.24479e-10	1	1	0
ATP5O	539	broad.mit.edu	37	21	35288054	35288054	+	Missense_Mutation	SNP	G	G	A			TCGA-86-7953-01A-11D-2184-08	TCGA-86-7953-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19ab51b6-eb35-457f-86e0-745f592fc50c	7c1a85a3-439d-42ac-b900-d1c0b36c778f	g.chr21:35288054G>A	ENST00000290299.2	-	1	230	c.14C>T	c.(13-15)gCa>gTa	p.A5V	LINC00649_ENST00000598119.1_RNA|LINC00649_ENST00000597626.1_RNA|LINC00649_ENST00000596365.1_RNA	NM_001697.2	NP_001688.1			ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit											large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	5						CCCGGACACTGCTGGGGCAGC	0.642000													5	7					0	0	1	0	0
GRIA3	2892	broad.mit.edu	37	X	122319830	122319830	+	Missense_Mutation	SNP	G	G	A			TCGA-86-7953-01A-11D-2184-08	TCGA-86-7953-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19ab51b6-eb35-457f-86e0-745f592fc50c	7c1a85a3-439d-42ac-b900-d1c0b36c778f	g.chrX:122319830G>A	ENST00000264357.5	+	2	548	c.256G>A	c.(256-258)Gtg>Atg	p.V86M	GRIA3_ENST00000371266.1_Missense_Mutation_p.V86M|GRIA3_ENST00000542149.1_Missense_Mutation_p.V86M|GRIA3_ENST00000371264.3_Missense_Mutation_p.V86M|GRIA3_ENST00000541091.1_Missense_Mutation_p.V70M|GRIA3_ENST00000371256.5_Missense_Mutation_p.V86M|GRIA3_ENST00000371251.1_Missense_Mutation_p.V86M|GRIA3_ENST00000479118.1_3'UTR	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	86					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	TAGTTTTTCCGTGACAAATGC	0.463000													18	85					0	0	1	0	0
PRKD3	23683	broad.mit.edu	37	2	37487473	37487473	+	Silent	SNP	G	G	T			TCGA-86-7953-01A-11D-2184-08	TCGA-86-7953-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19ab51b6-eb35-457f-86e0-745f592fc50c	7c1a85a3-439d-42ac-b900-d1c0b36c778f	g.chr2:37487473G>T	ENST00000379066.1	-	15	2701	c.1939C>A	c.(1939-1941)Cga>Aga	p.R647R	PRKD3_ENST00000234179.2_Silent_p.R647R			O94806	KPCD3_HUMAN	protein kinase D3	647	Protein kinase.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				ACAAAGACTCGTTCTGGGGTT	0.398000													7	51					0.000157383	0.000161419	1	1	0
SLC6A11	6538	broad.mit.edu	37	3	10970891	10970891	+	Missense_Mutation	SNP	G	G	C			TCGA-86-7953-01A-11D-2184-08	TCGA-86-7953-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19ab51b6-eb35-457f-86e0-745f592fc50c	7c1a85a3-439d-42ac-b900-d1c0b36c778f	g.chr3:10970891G>C	ENST00000254488.2	+	10	1303	c.1237G>C	c.(1237-1239)Gtg>Ctg	p.V413L		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	413					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		CATCCAGTTTGTGTGTGTGGA	0.587000													17	141					0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140579415	140579415	+	Missense_Mutation	SNP	T	T	C			TCGA-86-7953-01A-11D-2184-08	TCGA-86-7953-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19ab51b6-eb35-457f-86e0-745f592fc50c	7c1a85a3-439d-42ac-b900-d1c0b36c778f	g.chr5:140579415T>C	ENST00000354757.3	+	1	68	c.68T>C	c.(67-69)aTg>aCg	p.M23T	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		23					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTGCTCGGAATGTCTCAGGCG	0.507000													5	64					0	0	1	0	0
SNF8	11267	broad.mit.edu	37	17	47007911	47007911	+	Missense_Mutation	SNP	A	A	G			TCGA-86-7953-01A-11D-2184-08	TCGA-86-7953-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19ab51b6-eb35-457f-86e0-745f592fc50c	7c1a85a3-439d-42ac-b900-d1c0b36c778f	g.chr17:47007911A>G	ENST00000502492.1	-	8	1085	c.703T>C	c.(703-705)Tgg>Cgg	p.W235R	SNF8_ENST00000514089.1_5'UTR|SNF8_ENST00000290330.3_Missense_Mutation_p.W234R			Q96H20	SNF8_HUMAN	SNF8, ESCRT-II complex subunit	235					cellular membrane organization|endosome transport|protein transport|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytosol|late endosome membrane|transcription factor complex	transcription factor binding			breast(1)|endometrium(1)|lung(1)	3						GCTGGCAGCCAGTAGTGGGCC	0.587000													10	45					0	0	1	0	0
USP38	84640	broad.mit.edu	37	4	144109089	144109089	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7953-01A-11D-2184-08	TCGA-86-7953-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19ab51b6-eb35-457f-86e0-745f592fc50c	7c1a85a3-439d-42ac-b900-d1c0b36c778f	g.chr4:144109089G>T	ENST00000307017.4	+	2	1299	c.793G>T	c.(793-795)Gca>Tca	p.A265S	USP38_ENST00000510377.1_Missense_Mutation_p.A265S	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	265					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					TGTAAAAGATGCAAGTATGAC	0.398000													14	78					2.35188e-11	2.89462e-11	1	1	0
F7	2155	broad.mit.edu	37	13	113770093	113770093	+	Missense_Mutation	SNP	G	G	C			TCGA-86-7953-01A-11D-2184-08	TCGA-86-7953-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19ab51b6-eb35-457f-86e0-745f592fc50c	7c1a85a3-439d-42ac-b900-d1c0b36c778f	g.chr13:113770093G>C	ENST00000375581.3	+	6	585	c.550G>C	c.(550-552)Ggg>Cgg	p.G184R	F7_ENST00000541084.1_Missense_Mutation_p.G115R|F7_ENST00000346342.3_Missense_Mutation_p.G162R	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	184	EGF-like 2.				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	GCTGGCAGACGGGGTGTCCTG	0.597000													4	45					0	0	1	0	0
BRD8	10902	broad.mit.edu	37	5	137503765	137503765	+	Silent	SNP	G	G	A			TCGA-86-7953-01A-11D-2184-08	TCGA-86-7953-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19ab51b6-eb35-457f-86e0-745f592fc50c	7c1a85a3-439d-42ac-b900-d1c0b36c778f	g.chr5:137503765G>A	ENST00000254900.5	-	9	1016	c.645C>T	c.(643-645)gtC>gtT	p.V215V	BRD8_ENST00000455658.2_Silent_p.V174V|BRD8_ENST00000402931.1_Silent_p.V215V|BRD8_ENST00000230901.5_Silent_p.V288V|BRD8_ENST00000411594.2_Silent_p.V288V	NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	215					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CACTCTCATTGACCTACCAGG	0.493000													23	56					0	0	1	0	0
CES5A	221223	broad.mit.edu	37	16	55895336	55895336	+	Silent	SNP	C	C	T			TCGA-86-7953-01A-11D-2184-08	TCGA-86-7953-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19ab51b6-eb35-457f-86e0-745f592fc50c	7c1a85a3-439d-42ac-b900-d1c0b36c778f	g.chr16:55895336C>T	ENST00000521992.1	-	8	1135	c.990G>A	c.(988-990)ctG>ctA	p.L330L	CES5A_ENST00000520435.1_Silent_p.L271L|CES5A_ENST00000319165.9_Silent_p.L301L|CES5A_ENST00000290567.9_Silent_p.L301L|CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000518005.1_Silent_p.L195L	NM_001190158.1	NP_001177087.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	301						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GGCTGAGGGTCAGCAGCTCCT	0.527000													6	43					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151902288	151902288	+	Silent	SNP	C	C	A			TCGA-86-7953-01A-11D-2184-08	TCGA-86-7953-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19ab51b6-eb35-457f-86e0-745f592fc50c	7c1a85a3-439d-42ac-b900-d1c0b36c778f	g.chr7:151902288C>A	ENST00000355193.2	-	25	4082	c.3864G>T	c.(3862-3864)cgG>cgT	p.R1288R	KMT2C_ENST00000262189.6_Silent_p.R1288R					lysine (K)-specific methyltransferase 2C									p.?(1)									GACTTCTTTGCCGCACCATAA	0.398000													9	64					9.31168e-06	9.93246e-06	1	1	0
SLC5A2	6524	broad.mit.edu	37	16	31499039	31499039	+	Missense_Mutation	SNP	G	G	A			TCGA-86-7953-01A-11D-2184-08	TCGA-86-7953-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19ab51b6-eb35-457f-86e0-745f592fc50c	7c1a85a3-439d-42ac-b900-d1c0b36c778f	g.chr16:31499039G>A	ENST00000330498.3	+	7	863	c.844G>A	c.(844-846)Gga>Aga	p.G282R	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	282					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						GCTGCTCCTCGGACTCACAAT	0.697000													9	38					0	0	1	0	0
TMCO2	127391	broad.mit.edu	37	1	40713708	40713709	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-86-7953-01A-11D-2184-08	TCGA-86-7953-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19ab51b6-eb35-457f-86e0-745f592fc50c	7c1a85a3-439d-42ac-b900-d1c0b36c778f	g.chr1:40713708_40713709delTC	ENST00000372766.3	+	1	136_137	c.43_44delTC	c.(43-45)tfs	p.S15fs	TMCO2_ENST00000468258.1_Intron	NM_001008740.3	NP_001008740.1	Q7Z6W1	TMCO2_HUMAN	transmembrane and coiled-coil domains 2	15						integral to membrane				kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			CCTCTTAGAGTCTCTCTCTCTC	0.406													7	285	---	---	---	---					
TCERG1L	256536	broad.mit.edu	37	10	132944796	132944796	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-7953-01A-11D-2184-08	TCGA-86-7953-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19ab51b6-eb35-457f-86e0-745f592fc50c	7c1a85a3-439d-42ac-b900-d1c0b36c778f	g.chr10:132944796delG	ENST00000368642.4	-	7	1247	c.1162delC	c.(1162-1164)acfs	p.H388fs		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	388										cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		TTGCGTTTGTGGGGCGGGTCC	0.493													9	100	---	---	---	---					
UTP20	27340	broad.mit.edu	37	12	101750705	101750706	+	Splice_Site	INS	-	-	T			TCGA-86-7953-01A-11D-2184-08	TCGA-86-7953-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19ab51b6-eb35-457f-86e0-745f592fc50c	7c1a85a3-439d-42ac-b900-d1c0b36c778f	g.chr12:101750705_101750706insT	ENST00000261637.4	+	43	5710_5711	c.5534_splice	c.e43-1	p.F1846_splice		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1846					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						ATTTTCTAGTATTTTGCTGAAA	0.356													8	68	---	---	---	---					
HERC2P2	400322	broad.mit.edu	37	15	23331163	23331163	+	RNA	DEL	A	A	-			TCGA-86-7953-01A-11D-2184-08	TCGA-86-7953-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19ab51b6-eb35-457f-86e0-745f592fc50c	7c1a85a3-439d-42ac-b900-d1c0b36c778f	g.chr15:23331163delA	ENST00000560464.1	-	0	908																											AATAAATACTAAAAAAAAAAA	0.368													3	3	---	---	---	---					
FAM174B	400451	broad.mit.edu	37	15	93198679	93198684	+	In_Frame_Del	DEL	TGGAGC	TGGAGC	-	rs66488707		TCGA-86-7953-01A-11D-2184-08	TCGA-86-7953-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19ab51b6-eb35-457f-86e0-745f592fc50c	7c1a85a3-439d-42ac-b900-d1c0b36c778f	g.chr15:93198679_93198684delTGGAGC	ENST00000327355.5	-	1	504_509	c.206_211delGCTCCA	c.(205-213)aac>a	p.SSN69del		NM_207446.2	NP_997329.2	Q3ZCQ3	F174B_HUMAN	family with sequence similarity 174, member B	69						integral to membrane				endometrium(2)|lung(1)	3						CCACTGCTGTTGGAGCTGGAGCTGCC	0.714													8	5	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7579329	7579345	+	Frame_Shift_Del	DEL	TGGCTGTCCCAGAATGC	TGGCTGTCCCAGAATGC	-	rs121912658		TCGA-86-7953-01A-11D-2184-08	TCGA-86-7953-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19ab51b6-eb35-457f-86e0-745f592fc50c	7c1a85a3-439d-42ac-b900-d1c0b36c778f	g.chr17:7579329_7579345delTGGCTGTCCCAGAATGC	ENST00000420246.2	-	4	474_490	c.342_358delGCATTCTGGGACAGCCA	c.(340-360)ttagfs	p.LHSGTAK114fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.LHSGTAK114fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.LHSGTAK114fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.LHSGTAK114fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.LHSGTAK114fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.LHSGTAK114fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	114	Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.				activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.T118fs*5(8)|p.0?(8)|p.A119A(5)|p.T118fs*31(4)|p.T118I(3)|p.G59fs*23(3)|p.K120E(3)|p.K120*(2)|p.G117E(2)|p.T118fs*27(1)|p.L114fs*30(1)|p.V73fs*9(1)|p.T118A(1)|p.Y107fs*44(1)|p.S33fs*23(1)|p.T118T(1)|p.T118R(1)|p.H115fs*8(1)|p.G117R(1)|p.P13fs*18(1)|p.K120fs*3(1)|p.T118fs*6(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.H115fs*27(1)|p.A119fs*5(1)|p.S116F(1)|p.K120Q(1)|p.G112_S116delGFLHS(1)|p.S116C(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCA	0.585		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			16	75	---	---	---	---					
AC008103.5	0	broad.mit.edu	37	22	18842473	18842473	+	RNA	DEL	G	G	-	rs66618606		TCGA-86-7953-01A-11D-2184-08	TCGA-86-7953-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19ab51b6-eb35-457f-86e0-745f592fc50c	7c1a85a3-439d-42ac-b900-d1c0b36c778f	g.chr22:18842473delG	ENST00000412938.1	+	0	2208																											AGCTGCTGGTGGGGAGGTCTT	0.647													3	4	---	---	---	---					
