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
CLEC14A	161198	broad.mit.edu	37	14	38724734	38724734	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr14:38724734C>A	ENST00000342213.2	-	1	840	c.494G>T	c.(493-495)cGc>cTc	p.R165L		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	165	C-type lectin.					integral to membrane	sugar binding	p.R165L(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		GCCGTTGGCGCGCAGGTGGCA	0.682000													16	52					5.35047e-06	6.50288e-06	0.083992	1	0
ZNF423	23090	broad.mit.edu	37	16	49669876	49669876	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr16:49669876G>A	ENST00000561648.1	-	4	3240	c.3187C>T	c.(3187-3189)Ctc>Ttc	p.L1063F	ZNF423_ENST00000562871.1_Missense_Mutation_p.L1003F|ZNF423_ENST00000567169.1_Missense_Mutation_p.L946F|ZNF423_ENST00000563137.2_Missense_Mutation_p.L1003F|ZNF423_ENST00000562520.1_Missense_Mutation_p.L1003F|ZNF423_ENST00000262383.2_Missense_Mutation_p.L1063F|ZNF423_ENST00000535559.1_Missense_Mutation_p.L946F	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1063					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.L1063F(3)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CACTTGTAGAGCTTCTGCAGC	0.627000													3	28					0	0	0.009096	0	0
PRPS1L1	221823	broad.mit.edu	37	7	18067240	18067240	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr7:18067240C>T	ENST00000506618.2	-	1	246	c.166G>A	c.(166-168)Gtt>Att	p.V56I		NM_175886.2	NP_787082.1	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	56					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	p.V56I(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					CCACTCTGAACGATGTAGACA	0.488000													9	533					0	0	0.058154	0	0
TFAP2D	83741	broad.mit.edu	37	6	50740431	50740431	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr6:50740431A>G	ENST00000008391.3	+	8	1441	c.1213A>G	c.(1213-1215)Atg>Gtg	p.M405V		NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	405	H-S-H (helix-span-helix), dimerization.						DNA binding|sequence-specific DNA binding transcription factor activity	p.M405V(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					TCTCAGTGAAATGCTGAACTA	0.478000													33	94					0	0	0.050027	0	0
GRM3	0	broad.mit.edu	37	7	86415634	86415634	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr7:86415634G>A	ENST00000361669.2	+	3	1625	c.526G>A	c.(526-528)Gcc>Acc	p.A176T	GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.A48T|AC005009.2_ENST00000418031.1_RNA|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000439827.1_Missense_Mutation_p.A176T|GRM3_ENST00000394720.2_Missense_Mutation_p.A174T	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	176					synaptic transmission	integral to plasma membrane		p.A176T(2)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	ATCCACCAGCGCCAAACTCAG	0.552000													6	353					0	0	0.021553	0	0
NUCB2	4925	broad.mit.edu	37	11	17332484	17332484	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr11:17332484A>C	ENST00000529010.1	+	7	815	c.596A>C	c.(595-597)aAg>aCg	p.K199T	NUCB2_ENST00000323688.6_Missense_Mutation_p.K199T|NUCB2_ENST00000458064.2_Missense_Mutation_p.K199T	NM_005013.2	NP_005004.1	P80303	NUCB2_HUMAN	nucleobindin 2	199						cytosol|ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|plasma membrane	calcium ion binding|DNA binding	p.K199T(1)		kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						AATGAAGAAAAGAGAAAAGAA	0.303000													6	299					0	0	0.021553	0	0
CD226	10666	broad.mit.edu	37	18	67614065	67614065	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr18:67614065C>G	ENST00000280200.4	-	3	555	c.287G>C	c.(286-288)cGg>cCg	p.R96P	CD226_ENST00000581982.1_Intron|CD226_ENST00000577287.1_Intron|CD226_ENST00000582621.1_Missense_Mutation_p.R96P	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	96	Ig-like C2-type 1.				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity	p.R96P(1)|p.R96L(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				AGAGGCATTCCGAAAGAAAAG	0.448000													52	108					0	0	0.139131	0	0
MAGEA6	4105	broad.mit.edu	37	X	151869728	151869728	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chrX:151869728G>A	ENST00000329342.5	+	3	643	c.418G>A	c.(418-420)Gtc>Atc	p.V140I		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	140	MAGE.						protein binding	p.V140I(2)		breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GGGGAGTGTCGTCGGAAATTG	0.527000													4	150					0	0	0.014758	0	0
TBC1D2	55357	broad.mit.edu	37	9	100995790	100995790	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr9:100995790C>T	ENST00000375066.5	-	4	780	c.689G>A	c.(688-690)gGa>gAa	p.G230E	TBC1D2_ENST00000342112.5_Missense_Mutation_p.G12E|TBC1D2_ENST00000375064.1_Missense_Mutation_p.G230E	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	230						cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity	p.G230E(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		ATGGCCTGTTCCCTGGGCCTG	0.587000													24	245					0	0	0.108266	0	0
AKAP9	10142	broad.mit.edu	37	7	91631337	91631337	+	Silent	SNP	A	A	G			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr7:91631337A>G	ENST00000359028.2	+	9	2367	c.2142A>G	c.(2140-2142)ctA>ctG	p.L714L	AKAP9_ENST00000356239.3_Silent_p.L702L|AKAP9_ENST00000358100.2_Silent_p.L714L			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	714	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	p.L714L(1)|p.L702L(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTTCAAAGCTAAAAGATTTAC	0.289000			T	BRAF	papillary thyroid								3	101					0	0	0.115264	0	0
MGAM	8972	broad.mit.edu	37	7	141727465	141727465	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr7:141727465G>A	ENST00000475668.2	+	10	1205	c.1151G>A	c.(1150-1152)cGt>cAt	p.R384H	MGAM_ENST00000549489.2_Missense_Mutation_p.R384H			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	384	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.R384H(4)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CACCTCAGTCGTTACGAATAT	0.453000													8	81					0	0	0.047766	0	0
LAMB4	22798	broad.mit.edu	37	7	107674715	107674715	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr7:107674715C>T	ENST00000388781.3	-	31	4839	c.4756G>A	c.(4756-4758)Gca>Aca	p.A1586T	LAMB4_ENST00000388780.3_Missense_Mutation_p.A1586T|LAMB4_ENST00000205386.4_Missense_Mutation_p.A1586T|LAMB4_ENST00000483484.1_5'UTR	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1586	Domain I.				cell adhesion	basement membrane		p.A1586T(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GTAGAGTTTGCCCGTCCTTGA	0.333000													6	295					0	0	0.021553	0	0
CNNM4	26504	broad.mit.edu	37	2	97464910	97464910	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr2:97464910C>A	ENST00000377075.2	+	4	1896	c.1798C>A	c.(1798-1800)Cat>Aat	p.H600N	CNNM4_ENST00000496186.1_3'UTR|CNNM4_ENST00000540067.1_Missense_Mutation_p.H87N	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin M4	600					biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane		p.H600N(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						CTACGCCCGCCATTACCTGTA	0.567000													9	94					0.0477658	0.0509932	0.047766	1	0
MAN1A1	4121	broad.mit.edu	37	6	119509656	119509656	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr6:119509656G>A	ENST00000368468.3	-	11	2074	c.1633C>T	c.(1633-1635)Cgg>Tgg	p.R545W		NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	545					post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.R545W(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		ACTTCTGGCCGTAAGATGTAG	0.413000													6	342					0	0	0.021553	0	0
KIAA1551	55196	broad.mit.edu	37	12	32135028	32135028	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr12:32135028C>A	ENST00000312561.4	+	4	1553	c.1139C>A	c.(1138-1140)tCa>tAa	p.S380*	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639.3			KIAA1551									p.S380*(1)									AATCCAACTTCAAATCAAGTA	0.348000													5	212					0.0293803	0.0317952	0.029380	1	0
SIGLEC1	6614	broad.mit.edu	37	20	3678583	3678583	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr20:3678583G>A	ENST00000344754.4	-	8	1983	c.1984C>T	c.(1984-1986)Cgc>Tgc	p.R662C	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.R662C	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	662	Ig-like C2-type 6.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	p.R662C(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						ACCTTCATGCGTGGGGAACAG	0.627000													9	97					0	0	0.069234	0	0
LGSN	51557	broad.mit.edu	37	6	63990299	63990299	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr6:63990299T>C	ENST00000370657.4	-	4	1190	c.1157A>G	c.(1156-1158)tAc>tGc	p.Y386C	LGSN_ENST00000370658.5_3'UTR			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	386					glutamine biosynthetic process		glutamate-ammonia ligase activity	p.Y386C(2)		NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	GTTGTCATTGTATCCCCATGT	0.468000													132	299					0	0	0.139131	0	0
FRAS1	80144	broad.mit.edu	37	4	79458218	79458218	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr4:79458218T>A	ENST00000264895.6	+	72	11602	c.11162T>A	c.(11161-11163)cTg>cAg	p.L3721Q		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3716					cell communication	integral to membrane|plasma membrane	metal ion binding	p.L3721Q(2)|p.L3722Q(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AAACTCCAGCTGGAGAAAGTC	0.418000													32	238					0	0	0.059317	0	0
PNMAL1	55228	broad.mit.edu	37	19	46973938	46973938	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr19:46973938G>A	ENST00000313683.10	-	2	660	c.355C>T	c.(355-357)Cgc>Tgc	p.R119C	PNMAL1_ENST00000438932.2_Missense_Mutation_p.R119C|PNMAL1_ENST00000602246.1_Intron	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	119								p.R119C(2)		cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		tcccaggtgcgcccctcggca	0.582000													19	135					0	0	0.055883	0	0
MYH6	4624	broad.mit.edu	37	14	23866411	23866411	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr14:23866411C>T	ENST00000405093.3	-	17	2088	c.2018G>A	c.(2017-2019)cGt>cAt	p.R673H	MYH6_ENST00000356287.3_Missense_Mutation_p.R673H	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	673	Actin-binding.|Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	p.R673H(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GATGATGCAACGCACAAAGTG	0.542000													7	305					0	0	0.038147	0	0
SPEN	23013	broad.mit.edu	37	1	16257158	16257158	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr1:16257158C>T	ENST00000375759.3	+	11	4627	c.4423C>T	c.(4423-4425)Cga>Tga	p.R1475*		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1475					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	p.R1475*(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TGCAAATTTTCGAAACAACAA	0.378000													12	172					0	0	0.080935	0	0
LINC00264	0	broad.mit.edu	37	10	26880266	26880266	+	RNA	SNP	G	G	A	rs138111133	by1000genomes	TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1																						ACCAAGCCCAGTGGACAGATG	0.443000													3	37					0	0	0.115264	0	0
MIIP	60672	broad.mit.edu	37	1	12090150	12090150	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr1:12090150T>G	ENST00000235332.4	+	8	1080	c.911T>G	c.(910-912)tTt>tGt	p.F304C	MIIP_ENST00000466860.1_3'UTR|MIIP_ENST00000436478.2_Intron	NM_021933.3	NP_068752.2	Q5JXC2	MIIP_HUMAN	migration and invasion inhibitory protein	304								p.F304C(1)		autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						CGAAAGAGCTTTGACGCCTCT	0.697000													14	38					0	0	0.132662	0	0
PRSS50	29122	broad.mit.edu	37	3	46755773	46755773	+	Missense_Mutation	SNP	G	G	A	rs139823108	by1000genomes	TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr3:46755773G>A	ENST00000460241.1	-	9	2359	c.689C>T	c.(688-690)aCg>aTg	p.T230M	PRSS50_ENST00000315170.7_Missense_Mutation_p.T230M			Q9UI38	TSP50_HUMAN	protease, serine, 50	230	Peptidase S1.				proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity	p.T230M(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						CACATAGTCCGTGCCAGGCAG	0.602000													4	47					0	0	0.009096	0	0
TMEM5	10329	broad.mit.edu	37	12	64173824	64173824	+	Silent	SNP	C	C	T			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr12:64173824C>T	ENST00000261234.6	+	1	242	c.84C>T	c.(82-84)ttC>ttT	p.F28F	RP11-415I12.3_ENST00000509615.2_RNA	NM_014254.1	NP_055069.1	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	28						integral to plasma membrane		p.F28F(1)		breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		ACCACGTCTTCTTcgggcgcc	0.716000													3	29					0	0	0.009096	0	0
UNC80	285175	broad.mit.edu	37	2	210658516	210658516	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr2:210658516C>T	ENST00000439458.1	+	7	951	c.871C>T	c.(871-873)Cga>Tga	p.R291*	UNC80_ENST00000478701.1_3'UTR|UNC80_ENST00000272845.5_Nonsense_Mutation_p.R291*	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	291						integral to membrane		p.R291*(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						AGGCTGTCACCGAGGAAACTC	0.488000													40	123					0	0	0.086207	0	0
PARL	55486	broad.mit.edu	37	3	183547482	183547482	+	Silent	SNP	G	G	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr3:183547482G>A	ENST00000317096.4	-	10	1104	c.1044C>T	c.(1042-1044)taC>taT	p.Y348Y	PARL_ENST00000311101.5_Silent_p.Y298Y|PARL_ENST00000435888.1_Silent_p.Y264Y	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like	348					proteolysis	integral to membrane|mitochondrial inner membrane|nucleus	serine-type endopeptidase activity	p.Y348Y(1)		endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GTTCATGACCGTAAGTAACAT	0.423000													5	350					0	0	0.014758	0	0
LRP1	4035	broad.mit.edu	37	12	57566959	57566959	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr12:57566959C>A	ENST00000243077.3	+	21	3638	c.3172C>A	c.(3172-3174)Ccc>Acc	p.P1058T		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1058					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	p.P1058T(3)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AGCCACGAGGCCCCCTGGTGG	0.672000											OREG0021936	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	48					0.0215528	0.0236482	0.021553	1	0
DOT1L	84444	broad.mit.edu	37	19	2210728	2210728	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr19:2210728C>T	ENST00000398665.3	+	14	1261	c.1225C>T	c.(1225-1227)Cgc>Tgc	p.R409C		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	409	Required for interaction with nucleosomes and DNA.					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	p.R409C(1)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		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)		GATGGCTGGCCGCAAGCGCGG	0.602000													9	129					0	0	0.069234	0	0
PPP1R1A	5502	broad.mit.edu	37	12	54971306	54971306	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr12:54971306C>T	ENST00000547431.1	-	6	355	c.328G>A	c.(328-330)Gtg>Atg	p.V110M	PDE1B_ENST00000394277.3_Intron|PDE1B_ENST00000550620.1_Intron|PDE1B_ENST00000243052.3_Intron|PDE1B_ENST00000538346.1_Intron			Q13522	PPR1A_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1A	0					glycogen metabolic process|signal transduction		protein binding|protein serine/threonine phosphatase inhibitor activity			lung(2)	2						AATCCTCCCACGCTCTTCTGT	0.547000													6	151					0	0	0.029380	0	0
BRD8	10902	broad.mit.edu	37	5	137485406	137485406	+	Silent	SNP	G	G	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr5:137485406G>A	ENST00000254900.5	-	23	3572	c.3201C>T	c.(3199-3201)ggC>ggT	p.G1067G		NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	1067					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	p.G1067G(1)		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)			CATCACACTCGCCTGAAGGGG	0.502000													15	154					0	0	0.119110	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209190767	209190767	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr2:209190767C>T	ENST00000264380.4	+	20	3390	c.3232C>T	c.(3232-3234)Cga>Tga	p.R1078*		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1078					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	p.R1078*(2)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						ATGCTCTACCCGAGATTATTT	0.423000													5	189					0	0	0.021553	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5303543	5303543	+	Silent	SNP	G	G	A	rs35200003		TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr5:5303543G>A	ENST00000274181.7	+	19	3090	c.2952G>A	c.(2950-2952)caG>caA	p.Q984Q		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	984	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.Q984Q(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GCAACTCTCAGAGCTGCCCAC	0.677000													4	15					0	0	0.009096	0	0
FAM83B	222584	broad.mit.edu	37	6	54735045	54735045	+	Translation_Start_Site	SNP	A	A	T			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr6:54735045A>T	ENST00000306858.7	+	2	117	c.1A>T	c.(1-3)Atg>Ttg	p.M1L		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	1								p.M1L(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					ACTTGCAAGCATGGAGACCTC	0.378000													19	175					0	0	0.043863	0	0
SLC33A1	9197	broad.mit.edu	37	3	155571051	155571051	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr3:155571051G>A	ENST00000392845.2	-	1	1116	c.736C>T	c.(736-738)Cgg>Tgg	p.R246W	SLC33A1_ENST00000460729.1_5'UTR|SLC33A1_ENST00000359479.3_Missense_Mutation_p.R246W	NM_004733.3	NP_004724.1	O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	246					cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity	p.R246W(1)		endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GGCTGAAACCGCAAATATTTG	0.408000													4	98					0	0	0.009096	0	0
MED15	51586	broad.mit.edu	37	22	20937203	20937203	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr22:20937203C>T	ENST00000263205.7	+	11	1555	c.1486C>T	c.(1486-1488)Cgg>Tgg	p.R496W	MED15_ENST00000425759.2_Missense_Mutation_p.R345W|MED15_ENST00000406969.1_Missense_Mutation_p.R430W|MED15_ENST00000542773.1_Intron|MED15_ENST00000292733.7_Missense_Mutation_p.R456W|MED15_ENST00000478831.1_3'UTR|MED15_ENST00000382974.2_Missense_Mutation_p.R385W|MED15_ENST00000541476.1_Missense_Mutation_p.R430W	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	496	Pro-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	p.R496W(1)|p.R456W(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			AGTGACGGCGCGGACCCCACA	0.602000													7	95					0	0	0.029380	0	0
SETD1A	9739	broad.mit.edu	37	16	30991347	30991347	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr16:30991347G>A	ENST00000262519.8	+	14	4926	c.4240G>A	c.(4240-4242)Gcc>Acc	p.A1414T		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1414	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	p.A1414T(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						accgccccgcgccTACGAGCC	0.687000													7	14					0	0	0.029380	0	0
EPS15	2060	broad.mit.edu	37	1	51826841	51826841	+	Splice_Site	SNP	A	A	G			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr1:51826841A>G	ENST00000371733.3	-	24	2641		c.e24+1		EPS15_ENST00000396122.4_Splice_Site|EPS15_ENST00000371730.2_Splice_Site	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15						cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	p.0?(2)|p.?(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						CACAGTACTTACAGCACTGAA	0.358000			T	MLL	ALL								40	128					0	0	0.092188	0	0
LINGO2	158038	broad.mit.edu	37	9	27949564	27949564	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr9:27949564C>T	ENST00000379992.2	-	6	1555	c.1106G>A	c.(1105-1107)cGa>cAa	p.R369Q	LINGO2_ENST00000308675.3_Missense_Mutation_p.R369Q	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	369	LRRCT.					integral to membrane		p.R369Q(4)		autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GGTGGGCTGTCGCTGCAAGAT	0.547000													14	61					0	0	0.132662	0	0
CDH17	1015	broad.mit.edu	37	8	95140541	95140541	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr8:95140541C>T	ENST00000027335.3	-	18	2550	c.2426G>A	c.(2425-2427)cGc>cAc	p.R809H	CDH17_ENST00000441892.2_Missense_Mutation_p.R557H|CDH17_ENST00000450165.2_Missense_Mutation_p.R809H	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	809						integral to membrane	calcium ion binding	p.R809H(1)		NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CTTCTTTATGCGGATAAACAC	0.323000													33	84					0	0	0.045705	0	0
OR1M1	125963	broad.mit.edu	37	19	9204125	9204125	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr19:9204125G>A	ENST00000429566.3	+	1	271	c.205G>A	c.(205-207)Gtt>Att	p.V69I		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V69I(2)		breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CCTGTCCCTGGTTGATTTCTG	0.557000													4	155					0	0	0.009096	0	0
ARG2	384	broad.mit.edu	37	14	68113409	68113409	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr14:68113409G>C	ENST00000261783.3	+	5	751	c.571G>C	c.(571-573)Gca>Cca	p.A191P	ARG2_ENST00000556491.1_3'UTR	NM_001172.3	NP_001163.1	P78540	ARGI2_HUMAN	arginase 2	191					arginine metabolic process|nitric oxide biosynthetic process|urea cycle	mitochondrial matrix	arginase activity|metal ion binding	p.A191P(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|ovary(1)|prostate(1)	11				all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	L-Arginine(DB00125)|L-Ornithine(DB00129)	TATCTCTTCTGCAAGTATTGT	0.423000													7	239					0	0	0.038147	0	0
PRPF38B	55119	broad.mit.edu	37	1	109241909	109241909	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr1:109241909G>A	ENST00000370021.1	+	7	1212	c.575G>A	c.(574-576)cGa>cAa	p.R192Q	PRPF38B_ENST00000370025.4_Missense_Mutation_p.R303Q			Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	303					mRNA processing|RNA splicing	spliceosomal complex		p.R303Q(1)		NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		GAACGCCAGCGACTAGAGCGT	0.512000													12	77					0	0	0.080935	0	0
OR5T1	390155	broad.mit.edu	37	11	56043514	56043514	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr11:56043514C>A	ENST00000313033.2	+	1	486	c.400C>A	c.(400-402)Cgc>Agc	p.R134S		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R134S(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					GGCTTATGATCGCTATGTAGC	0.413000													46	444					2.47872e-24	3.05968e-24	0.117977	1	0
AGTR1	185	broad.mit.edu	37	3	148458896	148458896	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr3:148458896A>C	ENST00000542281.1	+	4	520	c.74A>C	c.(73-75)aAt>aCt	p.N25T	AGTR1_ENST00000461609.1_Missense_Mutation_p.N25T|AGTR1_ENST00000418473.2_Missense_Mutation_p.N25T|AGTR1_ENST00000474935.1_Missense_Mutation_p.N25T|AGTR1_ENST00000404754.2_Missense_Mutation_p.N25T|AGTR1_ENST00000349243.3_Missense_Mutation_p.N25T|AGTR1_ENST00000475347.1_Missense_Mutation_p.N25T|AGTR1_ENST00000402260.1_Missense_Mutation_p.N25T|AGTR1_ENST00000497524.1_Missense_Mutation_p.N25T	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	25					calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity	p.N25T(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	GGAAGGCATAATTACATATTT	0.353000													24	168					0	0	0.069288	0	0
SCN3A	6328	broad.mit.edu	37	2	165970412	165970412	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr2:165970412G>T	ENST00000360093.3	-	20	4074	c.3583C>A	c.(3583-3585)Ctt>Att	p.L1195I	SCN3A_ENST00000283254.7_Missense_Mutation_p.L1195I|SCN3A_ENST00000409101.3_Missense_Mutation_p.L1146I	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1195						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.L1195I(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GTTTTTCGAAGATTCCACCAG	0.343000													7	289					0.00198382	0.00223888	0.029380	1	0
ZSCAN5B	342933	broad.mit.edu	37	19	56701513	56701513	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr19:56701513G>A	ENST00000586855.2	-	5	1484	c.1171C>T	c.(1171-1173)Cgc>Tgc	p.R391C	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.R391C			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	391					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R391C(2)		breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TGCAAGAAGCGCTTCCGACAG	0.527000													8	98					0	0	0.038147	0	0
CDC45	8318	broad.mit.edu	37	22	19467485	19467485	+	Translation_Start_Site	SNP	C	C	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr22:19467485C>A	ENST00000407835.1	+	0	250				CDC45_ENST00000404724.3_De_novo_Start_InFrame|CDC45_ENST00000483431.1_3'UTR|CDC45_ENST00000437685.2_De_novo_Start_InFrame|CDC45_ENST00000263201.1_De_novo_Start_InFrame			O75419	CDC45_HUMAN	cell division cycle 45						DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						GTCCGGCCGCCGTGGCTATGT	0.672000													6	68					0.00307968	0.00342669	0.038147	1	0
STAG3	10734	broad.mit.edu	37	7	99795408	99795408	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr7:99795408A>T	ENST00000426455.1	+	11	1480	c.1073A>T	c.(1072-1074)gAa>gTa	p.E358V	STAG3_ENST00000317296.5_Missense_Mutation_p.E358V|STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000394018.2_Missense_Mutation_p.E300V			Q9UJ98	STAG3_HUMAN	stromal antigen 3	358	SCD.				chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	p.E358V(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAGCACCGAGAAGTCCGCCTG	0.562000													8	146					0	0	0.047766	0	0
INTS12	57117	broad.mit.edu	37	4	106607868	106607868	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr4:106607868A>G	ENST00000451321.2	-	6	1264	c.785T>C	c.(784-786)tTt>tCt	p.F262S	INTS12_ENST00000394735.1_Missense_Mutation_p.F262S|INTS12_ENST00000340139.5_Missense_Mutation_p.F262S	NM_001142471.1	NP_001135943.1	Q96CB8	INT12_HUMAN	integrator complex subunit 12	262					snRNA processing	integrator complex	protein binding|zinc ion binding	p.F262S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		TGTTCTCTTAAACGCTAGAAA	0.313000													3	132					0	0	0.115264	0	0
CEP290	80184	broad.mit.edu	37	12	88487642	88487642	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr12:88487642G>A	ENST00000552810.1	-	28	3557	c.3214C>T	c.(3214-3216)Cgg>Tgg	p.R1072W	CEP290_ENST00000547691.2_Missense_Mutation_p.R132W|CEP290_ENST00000309041.7_Missense_Mutation_p.R1074W|CEP290_ENST00000397838.3_Missense_Mutation_p.R132W	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1072					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	p.R1074W(1)|p.R1072W(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TGTTCAGCCCGCTGCCTTTCA	0.348000													3	78					0	0	0.115264	0	0
GIGYF2	26058	broad.mit.edu	37	2	233620970	233620970	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr2:233620970T>C	ENST00000373566.3	+	6	502	c.305T>C	c.(304-306)cTg>cCg	p.L102P	GIGYF2_ENST00000373563.4_Missense_Mutation_p.L102P|GIGYF2_ENST00000409480.1_Missense_Mutation_p.L102P|GIGYF2_ENST00000409547.1_Missense_Mutation_p.L102P|GIGYF2_ENST00000409451.3_Missense_Mutation_p.L102P|GIGYF2_ENST00000409196.3_Missense_Mutation_p.L102P			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	102					cell death		protein binding	p.L102P(1)		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)		GCTGCTGTCCTGCGATTGACA	0.393000													3	78					0	0	0.115264	0	0
BRCA2	675	broad.mit.edu	37	13	32912796	32912796	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr13:32912796A>C	ENST00000544455.1	+	11	4531	c.4304A>C	c.(4303-4305)aAt>aCt	p.N1435T	BRCA2_ENST00000380152.3_Missense_Mutation_p.N1435T	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1435					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	p.N1435T(3)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AGTGGGAAAAATATTAGTGTC	0.284000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			26	237					0	0	0.091800	0	0
TNC	3371	broad.mit.edu	37	9	117852969	117852969	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr9:117852969G>T	ENST00000350763.4	-	2	740	c.329C>A	c.(328-330)gCc>gAc	p.A110D	TNC_ENST00000542877.1_Missense_Mutation_p.A110D|TNC_ENST00000340094.3_Missense_Mutation_p.A110D|TNC_ENST00000537320.1_Missense_Mutation_p.A110D|TNC_ENST00000423613.2_Missense_Mutation_p.A110D|TNC_ENST00000535648.1_Missense_Mutation_p.A110D|TNC_ENST00000341037.4_Missense_Mutation_p.A110D|TNC_ENST00000345230.3_Missense_Mutation_p.A110D|TNC_ENST00000346706.3_Missense_Mutation_p.A110D	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	110					cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	p.A110D(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						ACAGCCACAGGCCCGGCGGGG	0.587000													64	531					9.42754e-34	1.18218e-33	0.139131	1	0
BMP6	654	broad.mit.edu	37	6	7845502	7845502	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr6:7845502G>A	ENST00000283147.6	+	2	953	c.794G>A	c.(793-795)gGg>gAg	p.G265E		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	265					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity	p.G265E(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					TGTGTTATGGGGAGTTTTAAA	0.473000													13	164					0	0	0.093190	0	0
ABHD17B	51104	broad.mit.edu	37	9	74485071	74485071	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr9:74485071G>A	ENST00000333421.6	-	3	686	c.575C>T	c.(574-576)tCt>tTt	p.S192F	ABHD17B_ENST00000377041.2_Missense_Mutation_p.S192F	NM_001025780.1	NP_001020951.1			abhydrolase domain containing 17B									p.S192F(1)									AGTCAGAGGAGAATGAAGAAT	0.408000													74	225					0	0	0.139131	0	0
TBC1D15	64786	broad.mit.edu	37	12	72288542	72288542	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr12:72288542G>A	ENST00000550746.1	+	8	849	c.785G>A	c.(784-786)aGa>aAa	p.R262K	TBC1D15_ENST00000485960.2_Missense_Mutation_p.R245K|TBC1D15_ENST00000319106.8_Missense_Mutation_p.R253K|TBC1D15_ENST00000393309.3_Missense_Mutation_p.R16K	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	262							protein binding|Rab GTPase activator activity	p.R262K(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GACAGTTTGAGAGGCAGCGAT	0.368000													5	200					0	0	0.014758	0	0
KRT35	3886	broad.mit.edu	37	17	39633889	39633889	+	Silent	SNP	G	G	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr17:39633889G>A	ENST00000246639.2	-	6	1143	c.1011C>T	c.(1009-1011)gcC>gcT	p.A337A	KRT35_ENST00000393989.1_Silent_p.A367A			Q92764	KRT35_HUMAN	keratin 35	367	Coil 2.|Rod.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity	p.A367A(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				CCCGGATCTCGGCCAGCTGGG	0.647000													3	57					0	0	0.115264	0	0
ADCK3	56997	broad.mit.edu	37	1	227152757	227152757	+	Silent	SNP	G	G	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr1:227152757G>A	ENST00000366779.1	+	8	3005	c.234G>A	c.(232-234)gaG>gaA	p.E78E	ADCK3_ENST00000366777.3_Silent_p.E78E|ADCK3_ENST00000366778.1_Silent_p.E26E|ADCK3_ENST00000478406.1_Intron|ADCK3_ENST00000366775.1_Intron|ADCK3_ENST00000366776.1_Intron|ADCK3_ENST00000458507.2_Intron			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	78					cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity	p.E78E(1)		endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						CAGAAGGGGAGTTCCACTTCT	0.587000													6	57					0	0	0.021553	0	0
PADI6	353238	broad.mit.edu	37	1	17723476	17723477	+	RNA	INS	-	-	CA	rs67024576	by1000genomes	TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr1:17723476_17723477insCA	ENST00000434762.2	+	0	1669							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	AGGAATGCACCCAGGTGGCTGG	0.629													3	3	---	---	---	---					
ENTPD3-AS1	0	broad.mit.edu	37	3	40418595	40418595	+	RNA	DEL	G	G	-			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr3:40418595delG	ENST00000439293.1	-	0	143																											agggaggggaggggagggagg	0.557													3	5	---	---	---	---					
WNT5A	7474	broad.mit.edu	37	3	55508479	55508480	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr3:55508479_55508480insT	ENST00000474267.1	-	5	1090_1091	c.569_570insA	c.(568-570)tcgfs	p.S190fs	WNT5A_ENST00000497027.1_Frame_Shift_Ins_p.S175fs|WNT5A_ENST00000264634.4_Frame_Shift_Ins_p.S190fs			P41221	WNT5A_HUMAN	wingless-type MMTV integration site family, member 5A	190					activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		TGGCAAAGCGGTAGCCATAGTC	0.683													5	11	---	---	---	---					
CCDC39	339829	broad.mit.edu	37	3	180381743	180381743	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr3:180381743delA	ENST00000273654.4	-	8	993	c.374delT	c.(373-375)tgfs	p.L125fs	CCDC39_ENST00000442201.2_Frame_Shift_Del_p.L41fs			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	41					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CTCATCTTGCAAGCTTGCTCT	0.338													35	141	---	---	---	---					
CTAGE6	340307	broad.mit.edu	37	7	143454287	143454291	+	Frame_Shift_Del	DEL	TTCTT	TTCTT	-			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr7:143454287_143454291delTTCTT	ENST00000470691.2	-	1	498_502	c.461_465delAAGAA	c.(460-465)afs	p.KE154fs		NM_178561.4	NP_848656.2			CTAGE family, member 6													Melanoma(164;0.0903)					TAGATTTCTCTTCTTTTAAGTCTTT	0.376													2	4	---	---	---	---					
RP11-551L14.1	0	broad.mit.edu	37	12	31269805	31269806	+	RNA	INS	-	-	AAG	rs67001718		TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr12:31269805_31269806insAAG	ENST00000542490.1	-	0	52																				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41						CAATATTCCTCAAACTTCTCTT	0.307													4	5	---	---	---	---					
