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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
CD99	4267	broad.mit.edu	37	X	2640667	2640667	+	Splice_Site	SNP	G	T	T			TCGA-GN-A26D-06A-11D-A19A-08	TCGA-GN-A26D-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fc0661b-2941-4418-99f2-8a1e8caa6201	61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa	g.chrX:2640667G>T	uc004cqm.3	+	6	437	c.263_splice	c.e6-1	p.G88_splice	CD99_uc010nda.3_Splice_Site_p.G72_splice|CD99_uc004cqn.3_Splice_Site	NM_002414	NP_002405	P14209	CD99_HUMAN	Homo sapiens CD99 molecule (CD99), transcript variant 1, mRNA.	88					cell adhesion	cytoplasm|integral to plasma membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11						TTCTTTCCTAGGTAGCTTTTC	0.448000														139			31		1.36161e-19	4.26754e-18	0.000132358	1	0
NCOR1	9611	broad.mit.edu	37	17	15974803	15974803	+	Missense_Mutation	SNP	C	G	G			TCGA-GN-A26D-06A-11D-A19A-08	TCGA-GN-A26D-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fc0661b-2941-4418-99f2-8a1e8caa6201	61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa	g.chr17:15974803C>G	uc002gpo.3	-	29	4341	c.4072G>C	c.(4072-4074)Gat>Cat	p.D1358H	NCOR1_uc002gpn.3_Missense_Mutation_p.D1374H|NCOR1_uc002gpp.1_Missense_Mutation_p.D1265H|NCOR1_uc010vwb.2_Intron|NCOR1_uc010coy.3_Missense_Mutation_p.D266H|NCOR1_uc010vwc.2_Missense_Mutation_p.D169H	NM_006311	NP_006302	O75376	NCOR1_HUMAN	Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.	1358	Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GTTAAAATATCTTGCCTTGGA	0.443000														77			18		0	0	5.01169e-05	0	0
EXOC7	23265	broad.mit.edu	37	17	74097367	74097368	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-GN-A26D-06A-11D-A19A-08	TCGA-GN-A26D-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fc0661b-2941-4418-99f2-8a1e8caa6201	61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa	g.chr17:74097367_74097368CG>AT	uc002jqs.3	-	3	496_497	c.401_402CG>AT	c.(400-402)ccg>cAT	p.P134H	EXOC7_uc010dgv.2_Missense_Mutation_p.P81H|EXOC7_uc010wsv.2_Missense_Mutation_p.P93H|EXOC7_uc010wsw.2_Missense_Mutation_p.P134H|EXOC7_uc002jqq.3_Missense_Mutation_p.P134H|EXOC7_uc010wsx.2_Missense_Mutation_p.P134H|EXOC7_uc002jqr.3_Missense_Mutation_p.P134H|EXOC7_uc002jqu.2_Missense_Mutation_p.P134H|EXOC7_uc002jqv.2_Missense_Mutation_p.P134H	NM_001145297	NP_001138769	Q9UPT5	EXOC7_HUMAN	Homo sapiens exocyst complex component 7 (EXOC7), transcript variant 4, mRNA.	134					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			TGTTGAGTTCCGGGCTGTCTGG	0.545000														265			9		0	0	6.4e-05	0	0
KCNMA1	3778	broad.mit.edu	37	10	78872169	78872169	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A26D-06A-11D-A19A-08	TCGA-GN-A26D-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fc0661b-2941-4418-99f2-8a1e8caa6201	61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa	g.chr10:78872169T>C	uc001jxn.3	-	6	1093	c.916A>G	c.(916-918)Ata>Gta	p.I306V	KCNMA1_uc021ptu.1_Missense_Mutation_p.I252V|KCNMA1_uc001jxj.2_Missense_Mutation_p.I306V|KCNMA1_uc001jxk.1_5'UTR|KCNMA1_uc009xrt.1_Missense_Mutation_p.I126V|KCNMA1_uc001jxl.1_5'Flank|KCNMA1_uc001jxo.3_Missense_Mutation_p.I306V|KCNMA1_uc001jxm.3_Missense_Mutation_p.I306V|KCNMA1_uc001jxq.3_Missense_Mutation_p.I306V	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, alpha member 1 (KCNMA1), transcript variant 3, mRNA.	306					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	CTGATAAATATGGAGAGCAGA	0.522000											OREG0020286	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		5			12		0	0	0.000151284	0	0
ZBTB16	7704	broad.mit.edu	37	11	113934596	113934596	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26D-06A-11D-A19A-08	TCGA-GN-A26D-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fc0661b-2941-4418-99f2-8a1e8caa6201	61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa	g.chr11:113934596G>A	uc001pop.3	+	1	838	c.574G>A	c.(574-576)Ggt>Agt	p.G192S	ZBTB16_uc001poo.1_Missense_Mutation_p.G192S|ZBTB16_uc001poq.3_Missense_Mutation_p.G192S	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	Homo sapiens zinc finger and BTB domain containing 16 (ZBTB16), transcript variant 1, mRNA.	192					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	PML body|nuclear speck|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		CACTTCATTTGGTCTTTCAGC	0.582000														867			61		0	0	0.000147903	0	0
HDAC5	10014	broad.mit.edu	37	17	42161941	42161941	+	Missense_Mutation	SNP	C	G	G			TCGA-GN-A26D-06A-11D-A19A-08	TCGA-GN-A26D-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fc0661b-2941-4418-99f2-8a1e8caa6201	61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa	g.chr17:42161941C>G	uc002iff.1	-	15	2622	c.2290G>C	c.(2290-2292)Gac>Cac	p.D764H	HDAC5_uc002ifd.1_Missense_Mutation_p.D763H|HDAC5_uc002ife.1_Missense_Mutation_p.D763H|HDAC5_uc010czp.1_Intron|HDAC5_uc002ifg.1_Missense_Mutation_p.D73H|HDAC5_uc002ifh.2_Missense_Mutation_p.D763H	NM_001015053	NP_001015053	Q9UQL6	HDAC5_HUMAN	Homo sapiens histone deacetylase 5 (HDAC5), transcript variant 3, mRNA.	763	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|protein kinase C binding|repressing transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		TTCTTGCTGTCTAGCTTCTGC	0.592000											OREG0024450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		63			20		0	0	0.000175454	0	0
KIAA1045	23349	broad.mit.edu	37	9	34977182	34977182	+	Silent	SNP	C	A	A			TCGA-GN-A26D-06A-11D-A19A-08	TCGA-GN-A26D-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fc0661b-2941-4418-99f2-8a1e8caa6201	61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa	g.chr9:34977182C>A	uc003zvq.3	+	5	1130	c.952C>A	c.(952-954)Cgg>Agg	p.R318R	KIAA1045_uc003zvr.3_Silent_p.R318R	NM_015297	NP_056112	Q9UPV7	K1045_HUMAN	Homo sapiens KIAA1045 (KIAA1045), mRNA.	318							calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			AGAGTGCCGCCGGGCCCAGCA	0.637000														47			24		2.41591e-17	7.29487e-16	9.22233e-05	1	0
HCAR2	338442	broad.mit.edu	37	12	123187358	123187358	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A26D-06A-11D-A19A-08	TCGA-GN-A26D-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fc0661b-2941-4418-99f2-8a1e8caa6201	61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa	g.chr12:123187358A>T	uc001ucx.1	-	0	547	c.473T>A	c.(472-474)cTg>cAg	p.L158Q	HCAR1_uc001ucw.1_Intron	NM_177551	NP_808219	Q8TDS4	HCAR2_HUMAN	Homo sapiens hydroxycarboxylic acid receptor 2 (HCAR2), mRNA.	158					negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Mepenzolate(DB04843)|Niacin(DB00627)	GTGGACTGTCAGGCCAATAGT	0.547000														83			20		0	0	0.000229342	0	0
CD70	970	broad.mit.edu	37	19	6586403	6586403	+	Silent	SNP	G	A	A			TCGA-GN-A26D-06A-11D-A19A-08	TCGA-GN-A26D-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fc0661b-2941-4418-99f2-8a1e8caa6201	61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa	g.chr19:6586403G>A	uc010xjf.1	-	2	360	c.210C>T	c.(208-210)gaC>gaT	p.D70D	CD70_uc002mfi.3_Silent_p.D70D	NM_001252	NP_001243	P32970	CD70_HUMAN	Homo sapiens CD70 molecule (CD70), mRNA.	70					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to membrane of membrane fraction|integral to plasma membrane	cytokine activity|protease binding|tumor necrosis factor receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|skin(1)	11						ATAGCCTGGGGTCCTGCTGAG	0.582000														14			8		0	0	0.000157383	0	0
PDC	5132	broad.mit.edu	37	1	186413523	186413523	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A26D-06A-11D-A19A-08	TCGA-GN-A26D-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fc0661b-2941-4418-99f2-8a1e8caa6201	61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa	g.chr1:186413523C>A	uc001gsa.3	-	3	402	c.329G>T	c.(328-330)aGa>aTa	p.R110I	MIR548F1_uc021pgf.1_Intron|PDC_uc001grz.3_Missense_Mutation_p.R58I	NM_002597	NP_072098	P20941	PHOS_HUMAN	Homo sapiens phosducin (PDC), transcript variant 1, mRNA.	110					G-protein coupled receptor protein signaling pathway|phototransduction|visual perception	actin cytoskeleton|cytosol|nucleus|photoreceptor inner segment|photoreceptor outer segment	phospholipase inhibitor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7		Breast(1374;1.53e-05)		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129)		AAACCCATATCTAGGCCCAAA	0.383000														13			38		8.20599e-20	2.60487e-18	0.000106405	1	0
SLC22A4	6583	broad.mit.edu	37	5	131630375	131630375	+	Silent	SNP	C	T	T			TCGA-GN-A26D-06A-11D-A19A-08	TCGA-GN-A26D-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fc0661b-2941-4418-99f2-8a1e8caa6201	61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa	g.chr5:131630375C>T	uc003kwq.3	+	0	231	c.66C>T	c.(64-66)ttC>ttT	p.F22F	BC030525_uc003kwm.4_Intron|SLC22A4_uc010jdq.1_5'Flank	NM_003059	NP_003050	Q9H015	S22A4_HUMAN	Homo sapiens solute carrier family 22 (organic cation/ergothioneine transporter), member 4 (SLC22A4), mRNA.	22					body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|PDZ domain binding|carnitine transporter activity|cation:cation antiporter activity|secondary active organic cation transmembrane transporter activity|symporter activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	GCCTCATCTTCTTCCTGCTCA	0.637000														74			5		0	0	8.12818e-05	0	0
RLIM	51132	broad.mit.edu	37	X	73811749	73811749	+	Silent	SNP	G	C	C			TCGA-GN-A26D-06A-11D-A19A-08	TCGA-GN-A26D-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fc0661b-2941-4418-99f2-8a1e8caa6201	61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa	g.chrX:73811749G>C	uc004ebu.3	-	4	1691	c.1401C>G	c.(1399-1401)tcC>tcG	p.S467S	RLIM_uc004ebw.3_Silent_p.S467S	NM_183353	NP_899196	Q9NVW2	RNF12_HUMAN	Homo sapiens ring finger protein, LIM domain interacting (RLIM), transcript variant 2, mRNA.	467	Poly-Ser.|Ser-rich.				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						aactggaactggaactcgaac	0.468000														20			3		0	0	6.4e-05	0	0
MUC4	4585	broad.mit.edu	37	3	195515747	195515747	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26D-06A-11D-A19A-08	TCGA-GN-A26D-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fc0661b-2941-4418-99f2-8a1e8caa6201	61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa	g.chr3:195515747C>T	uc021xjp.1	-	1	2860	c.2704G>A	c.(2704-2706)Gcc>Acc	p.A902T	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron|MUC4_uc021xjq.1_Missense_Mutation_p.A784T	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	907	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.A902T(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAAATGGCGGCTGTCTCCTGA	0.607000														20			11		0	0	6.40141e-05	0	0
HEATR4	399671	broad.mit.edu	37	14	73985814	73985814	+	Nonsense_Mutation	SNP	C	A	A			TCGA-GN-A26D-06A-11D-A19A-08	TCGA-GN-A26D-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fc0661b-2941-4418-99f2-8a1e8caa6201	61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa	g.chr14:73985814C>A	uc021rwe.1	-	4	1471	c.1123G>T	c.(1123-1125)Gaa>Taa	p.E375*	HEATR4_uc021rwf.1_Nonsense_Mutation_p.E328*|HEATR4_uc010tub.1_Nonsense_Mutation_p.E375*	NM_001220484	NP_001207413			Homo sapiens HEAT repeat containing 4 (HEATR4), transcript variant 1, mRNA.											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		TTTAGGTTTTCCAGGACAATC	0.453000														45			21		1.55795e-14	4.59223e-13	0.000229342	1	0
ZBTB16	7704	broad.mit.edu	37	11	113934445	113934445	+	Silent	SNP	G	T	T			TCGA-GN-A26D-06A-11D-A19A-08	TCGA-GN-A26D-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fc0661b-2941-4418-99f2-8a1e8caa6201	61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa	g.chr11:113934445G>T	uc001pop.3	+	1	687	c.423G>T	c.(421-423)ggG>ggT	p.G141G	ZBTB16_uc001poo.1_Silent_p.G141G|ZBTB16_uc001poq.3_Silent_p.G141G	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	Homo sapiens zinc finger and BTB domain containing 16 (ZBTB16), transcript variant 1, mRNA.	141					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	PML body|nuclear speck|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		CCGATGGCGGGGCCGAGGAAG	0.582000														881			50		1.35964e-18	4.15613e-17	0.000147903	1	0
LRRC32	2615	broad.mit.edu	37	11	76371968	76371968	+	Silent	SNP	T	C	C			TCGA-GN-A26D-06A-11D-A19A-08	TCGA-GN-A26D-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fc0661b-2941-4418-99f2-8a1e8caa6201	61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa	g.chr11:76371968T>C	uc001oxq.4	-	2	912	c.669A>G	c.(667-669)ctA>ctG	p.L223L	LRRC32_uc001oxr.4_Silent_p.L223L|LRRC32_uc010rsf.2_Silent_p.L223L	NM_005512	NP_005503	Q14392	LRC32_HUMAN	Homo sapiens leucine rich repeat containing 32 (LRRC32), transcript variant 1, mRNA.	223			L -> V (in dbSNP:rs35033061).			integral to plasma membrane		p.V222L(2)		endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						AGCTCAGGTCTAGCACCCGCA	0.622000														638			40		0	0	0.000319135	0	0
PRG4	10216	broad.mit.edu	37	1	186276689	186276689	+	Missense_Mutation	SNP	C	G	G			TCGA-GN-A26D-06A-11D-A19A-08	TCGA-GN-A26D-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fc0661b-2941-4418-99f2-8a1e8caa6201	61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa	g.chr1:186276689C>G	uc001gru.4	+	6	1889	c.1838C>G	c.(1837-1839)cCc>cGc	p.P613R	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Missense_Mutation_p.P572R|PRG4_uc009wyl.3_Missense_Mutation_p.P520R|PRG4_uc009wym.3_Missense_Mutation_p.P479R|PRG4_uc010poo.2_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	613	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CCAACTACCCCCAAGGAGACT	0.662000														18			41		0	0	0.000147903	0	0
KRT6C	286887	broad.mit.edu	37	12	52865071	52865071	+	Missense_Mutation	SNP	G	T	T	rs143318086		TCGA-GN-A26D-06A-11D-A19A-08	TCGA-GN-A26D-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fc0661b-2941-4418-99f2-8a1e8caa6201	61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa	g.chr12:52865071G>T	uc001sal.4	-	4	970	c.922C>A	c.(922-924)Cag>Aag	p.Q308K		NM_173086	NP_775109	P48668	K2C6C_HUMAN	Homo sapiens keratin 6C (KRT6C), mRNA.	308	Coil 1B.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		GTCTGCATCTGGGACAGCTCC	0.502000														230			28		3.6622e-26	1.19311e-24	0.000109025	1	0
DNM2	1785	broad.mit.edu	37	19	10939755	10939755	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26D-06A-11D-A19A-08	TCGA-GN-A26D-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fc0661b-2941-4418-99f2-8a1e8caa6201	61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa	g.chr19:10939755C>T	uc002mpt.2	+	18	2292	c.2102C>T	c.(2101-2103)tCc>tTc	p.S701F	DNM2_uc010dxk.2_Intron|DNM2_uc002mps.2_Missense_Mutation_p.S701F|DNM2_uc010dxl.2_Missense_Mutation_p.S701F|DNM2_uc002mpu.2_Missense_Mutation_p.S697F|DNM2_uc002mpv.2_Missense_Mutation_p.S697F|DNM2_uc002mpw.3_Missense_Mutation_p.S430F|DNM2_uc002mpx.1_Missense_Mutation_p.S57F	NM_001005360	NP_001005360	P50570	DYN2_HUMAN	Homo sapiens dynamin 2 (DNM2), transcript variant 1, mRNA.	701	GED.				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	Golgi membrane|cell junction|cytosol|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			TACCTATACTCCTCGGCAGAC	0.632000			"""F, N, Splice, Mis, O"""		ETP ALL									27			6		0	0	8.12818e-05	0	0
PSPC1	55269	broad.mit.edu	37	13	20279862	20279862	+	Silent	SNP	G	A	A			TCGA-GN-A26D-06A-11D-A19A-08	TCGA-GN-A26D-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fc0661b-2941-4418-99f2-8a1e8caa6201	61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa	g.chr13:20279862G>A	uc021rgx.1	-	8	1463	c.1326C>T	c.(1324-1326)gcC>gcT	p.A442A		NM_001042414	NP_001035879	Q8WXF1	PSPC1_HUMAN	Homo sapiens paraspeckle component 1 (PSPC1), transcript variant 1, mRNA.	442	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	RNA binding|nucleotide binding|protein binding	p.P441T(2)		breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		CTGGTCCCATGGCAGGACCAG	0.463000														19			5		0	0	8.12818e-05	0	0
BAGE1	0	broad.mit.edu	37	GL000237.1	2545	2545	+	RNA	SNP	G	A	A			TCGA-GN-A26D-06A-11D-A19A-08	TCGA-GN-A26D-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fc0661b-2941-4418-99f2-8a1e8caa6201	61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa	g.chrGL000237.1:2545G>A	uc011mgu.1	-	0		c.142C>T								Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced.																		ctccagccgcgctgccatctc	0.627000														18			25		0	0	0.000184323	0	0
SHMT2	6472	broad.mit.edu	37	12	57626583	57626583	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26D-06A-11D-A19A-08	TCGA-GN-A26D-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fc0661b-2941-4418-99f2-8a1e8caa6201	61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa	g.chr12:57626583G>A	uc001snf.2	+	6	1020	c.814G>A	c.(814-816)Gac>Aac	p.D272N	SHMT2_uc001snh.2_Missense_Mutation_p.D274N|SHMT2_uc009zpk.2_Missense_Mutation_p.D262N|SHMT2_uc001sng.2_Missense_Mutation_p.D168N|SHMT2_uc001sni.2_Missense_Mutation_p.D251N|SHMT2_uc010srg.2_Missense_Mutation_p.D281N|SHMT2_uc010srh.2_Missense_Mutation_p.D251N|SHMT2_uc001snj.2_Missense_Mutation_p.D176N|SHMT2_uc010sri.2_Missense_Mutation_p.D251N|SHMT2_uc001snk.2_Missense_Mutation_p.D176N|SHMT2_uc010srj.2_5'Flank	NM_005412	NP_001159831	P34897	GLYM_HUMAN	Homo sapiens serine hydroxymethyltransferase 2 (mitochondrial) (SHMT2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	272						microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CAAGCACGCGGACATCGTCAC	0.602000														352			14		0	0	0.000308642	0	0
PLXNC1	10154	broad.mit.edu	37	12	94637742	94637742	+	Nonsense_Mutation	SNP	A	T	T			TCGA-GN-A26D-06A-11D-A19A-08	TCGA-GN-A26D-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fc0661b-2941-4418-99f2-8a1e8caa6201	61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa	g.chr12:94637742A>T	uc001tdc.3	+	11	2578	c.2329A>T	c.(2329-2331)Aga>Tga	p.R777*		NM_005761	NP_005752	O60486	PLXC1_HUMAN	Homo sapiens plexin C1 (PLXNC1), transcript variant 1, mRNA.	777					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CATGATGGGCAGAAATTTTGA	0.328000														3			12		0	0	0.000422831	0	0
CRTAC1	55118	broad.mit.edu	37	10	99683047	99683047	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26D-06A-11D-A19A-08	TCGA-GN-A26D-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fc0661b-2941-4418-99f2-8a1e8caa6201	61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa	g.chr10:99683047G>A	uc001kou.2	-	3	888	c.532C>T	c.(532-534)Cgc>Tgc	p.R178C	CRTAC1_uc001kov.3_Missense_Mutation_p.R178C|CRTAC1_uc001kot.2_5'UTR	NM_018058	NP_060528	Q9NQ79	CRAC1_HUMAN	Homo sapiens cartilage acidic protein 1 (CRTAC1), transcript variant 1, mRNA.	178						proteinaceous extracellular matrix	calcium ion binding	p.R178C(2)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		GCCACAGAGCGTCCGGCAAAG	0.592000														54			7		0	0	0.000274275	0	0
BAGE1	0	broad.mit.edu	37	GL000237.1	2525	2525	+	RNA	SNP	C	T	T			TCGA-GN-A26D-06A-11D-A19A-08	TCGA-GN-A26D-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fc0661b-2941-4418-99f2-8a1e8caa6201	61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa	g.chrGL000237.1:2525C>T	uc011mgu.1	-	0		c.162G>A								Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced.																		ctcaggccaccctcctaacac	0.637000														28			36		0	0	8.96297e-05	0	0
GALNT14	79623	broad.mit.edu	37	2	31155012	31155012	+	Missense_Mutation	SNP	G	T	T			TCGA-GN-A26D-06A-11D-A19A-08	TCGA-GN-A26D-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fc0661b-2941-4418-99f2-8a1e8caa6201	61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa	g.chr2:31155012G>T	uc002rns.3	-	10	1635	c.995C>A	c.(994-996)cCc>cAc	p.P332H	GALNT14_uc002rnq.3_Missense_Mutation_p.P307H|GALNT14_uc010ymr.2_Missense_Mutation_p.P292H|GALNT14_uc002rnr.3_Missense_Mutation_p.P327H|GALNT14_uc010ezo.2_Missense_Mutation_p.P294H|GALNT14_uc010ezp.1_3'UTR	NM_001253826	NP_001240755	Q96FL9	GLT14_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA.	327	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					TCGGCTGCAGGGGACGATCTC	0.567000														35			24		7.92952e-12	2.30982e-10	7.16444e-05	1	0
MAP3K4	4216	broad.mit.edu	37	6	161513084	161513084	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A26D-06A-11D-A19A-08	TCGA-GN-A26D-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fc0661b-2941-4418-99f2-8a1e8caa6201	61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa	g.chr6:161513084C>T	uc003qtn.3	+	12	3320	c.3178C>T	c.(3178-3180)Cag>Tag	p.Q1060*	MAP3K4_uc010kkc.1_Nonsense_Mutation_p.Q1060*|MAP3K4_uc003qto.3_Nonsense_Mutation_p.Q1060*|MAP3K4_uc011efz.2_Non-coding_Transcript|MAP3K4_uc011ega.2_Nonsense_Mutation_p.Q513*|MAP3K4_uc003qtp.3_Nonsense_Mutation_p.Q50*	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 4 (MAP3K4), transcript variant 1, mRNA.	1060					JNK cascade|activation of MAPKK activity|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GGAGTTTAGACAGAAGATAGG	0.358000														49			72		0	0	0.000147903	0	0
MET	4233	broad.mit.edu	37	7	116339558	116339558	+	Silent	SNP	C	G	G			TCGA-GN-A26D-06A-11D-A19A-08	TCGA-GN-A26D-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fc0661b-2941-4418-99f2-8a1e8caa6201	61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa	g.chr7:116339558C>G	uc003vij.3	+	1	607	c.420C>G	c.(418-420)acC>acG	p.T140T	MET_uc022akk.1_Silent_p.T140T|MET_uc010lkh.3_Silent_p.T140T|MET_uc011knc.1_Silent_p.T140T|MET_uc011knd.2_Silent_p.T140T|MET_uc011knf.2_Silent_p.T140T|MET_uc011kne.2_Silent_p.T140T|MET_uc011kng.1_Silent_p.T140T|MET_uc011knh.1_Silent_p.T140T|MET_uc011kni.2_Silent_p.T140T|MET_uc003vii.1_Silent_p.T159T|MET_uc010lkg.3_Silent_p.T140T|MET_uc011kmz.1_Silent_p.T140T|MET_uc011kna.1_Silent_p.T140T|MET_uc011knb.1_Silent_p.T140T	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	140	Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			ACAGAGGGACCTGCCAGCGAC	0.488000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)					34			19		0	0	9.7654e-05	0	0
VPS13A	23230	broad.mit.edu	37	9	79898509	79898509	+	Silent	SNP	C	T	T			TCGA-GN-A26D-06A-11D-A19A-08	TCGA-GN-A26D-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fc0661b-2941-4418-99f2-8a1e8caa6201	61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa	g.chr9:79898509C>T	uc004akr.3	+	30	3542	c.3282C>T	c.(3280-3282)aaC>aaT	p.N1094N	VPS13A_uc004akp.4_Silent_p.N1094N|VPS13A_uc004akq.4_Silent_p.N1094N|VPS13A_uc004aks.3_Silent_p.N1055N	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.	1094					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CTGAAATAAACGCAAAGCTAA	0.284000														5			5		0	0	1.23904e-05	0	0
SLC25A10	1468	broad.mit.edu	37	17	79687107	79687107	+	Nonstop_Mutation	SNP	A	C	C			TCGA-GN-A26D-06A-11D-A19A-08	TCGA-GN-A26D-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fc0661b-2941-4418-99f2-8a1e8caa6201	61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa	g.chr17:79687107A>C	uc010wut.2	+	14	1461	c.1329A>C	c.(1327-1329)tgA>tgC	p.*443C	SLC25A10_uc002kbi.3_Nonstop_Mutation_p.*288C|SLC25A10_uc010dif.3_Nonstop_Mutation_p.*297C|SLC25A10_uc010wuu.2_Nonstop_Mutation_p.*242C	NM_012140	NP_036272	Q9UBX3	DIC_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10 (SLC25A10), nuclear gene encoding mitochondrial protein, mRNA.	0					gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding	p.*288C(1)		endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)	TGCCATCCTGACCAGCCGTGG	0.607000														63			15		0	0	9.22233e-05	0	0
JUP	3728	broad.mit.edu	37	17	39913672	39913672	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26D-06A-11D-A19A-08	TCGA-GN-A26D-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fc0661b-2941-4418-99f2-8a1e8caa6201	61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa	g.chr17:39913672C>T	uc002hxq.2	-	11	2318	c.2041G>A	c.(2041-2043)Gag>Aag	p.E681K	JUP_uc010wfs.2_Intron|JUP_uc002hxr.2_Missense_Mutation_p.E681K|JUP_uc002hxs.2_Missense_Mutation_p.E681K	NM_021991	NP_068831	P14923	PLAK_HUMAN	Homo sapiens junction plakoglobin (JUP), transcript variant 2, mRNA.	681					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of Wnt receptor signaling pathway involved in heart development|negative regulation of heart induction by canonical Wnt receptor signaling pathway|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	Axin-APC-beta-catenin-GSK3B complex|Z disc|actin cytoskeleton|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|zonula adherens	RPTP-like protein binding|alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		CTCACAGCCTCCCAGGCAGCC	0.572000														91			32		0	0	0.000270559	0	0
MLL	4297	broad.mit.edu	37	11	118376241	118376241	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A26D-06A-11D-A19A-08	TCGA-GN-A26D-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fc0661b-2941-4418-99f2-8a1e8caa6201	61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa	g.chr11:118376241A>G	uc001pta.3	+	26	9648	c.9625A>G	c.(9625-9627)Acc>Gcc	p.T3209A	MLL_uc001ptb.3_Missense_Mutation_p.T3212A	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	3209					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		AGACCTCAGTACCACAGTAGC	0.488000			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""									10			27		0	0	7.16444e-05	0	0
NCOR1	9611	broad.mit.edu	37	17	16052809	16052809	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26D-06A-11D-A19A-08	TCGA-GN-A26D-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fc0661b-2941-4418-99f2-8a1e8caa6201	61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa	g.chr17:16052809G>A	uc002gpo.3	-	8	1134	c.865C>T	c.(865-867)Ctc>Ttc	p.L289F	NCOR1_uc002gpn.3_Missense_Mutation_p.L289F|NCOR1_uc002gpp.1_Missense_Mutation_p.L180F|NCOR1_uc002gpr.3_Missense_Mutation_p.L180F|NCOR1_uc002gps.2_Missense_Mutation_p.L298F|NCOR1_uc010cpb.2_Missense_Mutation_p.L298F|NCOR1_uc010coz.2_Missense_Mutation_p.L105F|NCOR1_uc010cpa.2_Missense_Mutation_p.L289F	NM_006311	NP_006302	O75376	NCOR1_HUMAN	Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.	289	Interaction with SIN3A/B.|Interaction with ZBTB33 and HEXIM1.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		AATAAAATGAGTTTTTTCCTC	0.313000														114			27		0	0	0.000184323	0	0
ZFR2	23217	broad.mit.edu	37	19	3821378	3821378	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26D-06A-11D-A19A-08	TCGA-GN-A26D-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fc0661b-2941-4418-99f2-8a1e8caa6201	61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa	g.chr19:3821378C>T	uc002lyw.2	-	9	1603	c.1591G>A	c.(1591-1593)Gag>Aag	p.E531K	ZFR2_uc010xhx.1_Non-coding_Transcript	NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN	Homo sapiens zinc finger RNA binding protein 2 (ZFR2), transcript variant 1, mRNA.	531						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		TCCAGCCGCTCCTCCGCCAGG	0.697000														10			7		0	0	8.12818e-05	0	0
BAGE	574	broad.mit.edu	37	21	11049623	11049623	+	Splice_Site	SNP	T	C	C	rs28537865		TCGA-GN-A26D-06A-11D-A19A-08	TCGA-GN-A26D-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fc0661b-2941-4418-99f2-8a1e8caa6201	61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa	g.chr21:11049623T>C	uc002yiu.1	-	4	480	c.280_splice	c.e4-1		BAGE_uc002yit.1_Splice_Site_p.R94_splice	NM_182484	NP_872290	Q13072	BAGE1_HUMAN	Homo sapiens B melanoma antigen family, member 5 (BAGE5), mRNA.							extracellular region								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CTTCCTTCGCTATAATTAACA	0.368000														44			43		0	0	0.000106405	0	0
TTI1	9675	broad.mit.edu	37	20	36634691	36634691	+	Missense_Mutation	SNP	G	T	T			TCGA-GN-A26D-06A-11D-A19A-08	TCGA-GN-A26D-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fc0661b-2941-4418-99f2-8a1e8caa6201	61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa	g.chr20:36634691G>T	uc002xhl.3	-	3	2620	c.2411C>A	c.(2410-2412)aCc>aAc	p.T804N	TTI1_uc002xhm.3_Missense_Mutation_p.T804N	NM_014657	NP_055472	O43156	TTI1_HUMAN	Homo sapiens TELO2 interacting protein 1 (TTI1), mRNA.	804							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						TTCAGCTGTGGTGGTGCTCTT	0.448000														162			36		9.8876e-21	3.17944e-19	0.000159656	1	0
TAS2R43	259289	broad.mit.edu	37	12	11244482	11244482	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A26D-06A-11D-A19A-08	TCGA-GN-A26D-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fc0661b-2941-4418-99f2-8a1e8caa6201	61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa	g.chr12:11244482A>G	uc001qzq.1	-	0	431	c.347T>C	c.(346-348)tTt>tCt	p.F116S	PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Intron	NM_176884	NP_795365	P59537	T2R43_HUMAN	Homo sapiens taste receptor, type 2, member 43 (TAS2R43), mRNA.	116					detection of chemical stimulus involved in sensory perception of bitter taste	cilium membrane|motile cilium	bitter taste receptor activity			endometrium(1)|ovary(1)|prostate(2)|urinary_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		AAGAAAAATAAAGTTGGAGAA	0.378000														30			3		0	0	6.4e-05	0	0
BAGE	574	broad.mit.edu	37	21	11049621	11049621	+	Splice_Site	SNP	G	A	A	rs28441174		TCGA-GN-A26D-06A-11D-A19A-08	TCGA-GN-A26D-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fc0661b-2941-4418-99f2-8a1e8caa6201	61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa	g.chr21:11049621G>A	uc002yiu.1	-	4	480	c.280_splice	c.e4-1		BAGE_uc002yit.1_Splice_Site_p.R94_splice	NM_182484	NP_872290	Q13072	BAGE1_HUMAN	Homo sapiens B melanoma antigen family, member 5 (BAGE5), mRNA.							extracellular region								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATCTTCCTTCGCTATAATTAA	0.368000														45			42		0	0	0.000106405	0	0
DNAH9	1770	broad.mit.edu	37	17	11572800	11572800	+	Silent	SNP	G	A	A			TCGA-GN-A26D-06A-11D-A19A-08	TCGA-GN-A26D-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fc0661b-2941-4418-99f2-8a1e8caa6201	61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa	g.chr17:11572800G>A	uc002gne.3	+	16	3110	c.3042G>A	c.(3040-3042)tcG>tcA	p.S1014S	DNAH9_uc010coo.3_Silent_p.S308S	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	1014	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GCCAGTATTCGTACCTCTATG	0.522000														46			6		0	0	0.000157383	0	0
abParts	0	broad.mit.edu	37	14	107062360	107062360	+	RNA	SNP	A	G	G			TCGA-GN-A26D-06A-11D-A19A-08	TCGA-GN-A26D-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fc0661b-2941-4418-99f2-8a1e8caa6201	61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa	g.chr14:107062360A>G	uc021ser.1	-	150		c.6626T>C								Parts of antibodies, mostly variable regions.																		GACAGCGCAGATGAGGGACAG	0.612000														42			5		0	0	0.000157383	0	0
MYO5B	4645	broad.mit.edu	37	18	47363917	47363917	+	Missense_Mutation	SNP	A	G	G	rs138128932	by1000genomes	TCGA-GN-A26D-06A-11D-A19A-08	TCGA-GN-A26D-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fc0661b-2941-4418-99f2-8a1e8caa6201	61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa	g.chr18:47363917A>G	uc002leb.2	-	36	5396	c.5108T>C	c.(5107-5109)gTc>gCc	p.V1703A	MYO5B_uc002ldz.3_Missense_Mutation_p.V273A|MYO5B_uc002lea.2_Missense_Mutation_p.V818A	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	1703	Dilute.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity	p.V1703A(10)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CCAAGAGCAGACGTCCTTCCG	0.527000														32			5		0	0	8.12818e-05	0	0
DSCAM	1826	broad.mit.edu	37	21	41450683	41450683	+	Missense_Mutation	SNP	T	A	A			TCGA-GN-A26D-06A-11D-A19A-08	TCGA-GN-A26D-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fc0661b-2941-4418-99f2-8a1e8caa6201	61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa	g.chr21:41450683T>A	uc002yyq.1	-	25	5094	c.4642A>T	c.(4642-4644)Atg>Ttg	p.M1548L	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1548	Fibronectin type-III 6.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CACACCCGCATCTGCAGCTCA	0.582000														27			12		0	0	0.000151284	0	0
GLRA4	441509	broad.mit.edu	37	X	102968473	102968473	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26D-06A-11D-A19A-08	TCGA-GN-A26D-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fc0661b-2941-4418-99f2-8a1e8caa6201	61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa	g.chrX:102968473C>T	uc011mse.2	-	7	1479	c.1058G>A	c.(1057-1059)cGa>cAa	p.R353Q	TMEM31_uc004elh.3_Intron	NM_001024452	NP_001019623	Q5JXX5	GLRA4_HUMAN	Homo sapiens glycine receptor, alpha 4 (GLRA4), transcript variant 1, mRNA.	353						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						CTGCCTTCTTCGAAGTCGTAT	0.517000														32			35		0	0	0.000159656	0	0
ELAVL4	1996	broad.mit.edu	37	1	50659525	50659525	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A26D-06A-11D-A19A-08	TCGA-GN-A26D-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fc0661b-2941-4418-99f2-8a1e8caa6201	61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa	g.chr1:50659525T>C	uc001csb.2	+	3	711	c.443T>C	c.(442-444)cTg>cCg	p.L148P	ELAVL4_uc001cry.3_Missense_Mutation_p.L151P|ELAVL4_uc001crz.3_Missense_Mutation_p.L148P|ELAVL4_uc001csa.3_Missense_Mutation_p.L165P|ELAVL4_uc001csc.3_Missense_Mutation_p.L148P|ELAVL4_uc009vyu.3_Missense_Mutation_p.L153P|ELAVL4_uc010omz.2_Missense_Mutation_p.L153P	NM_021952	NP_068771	P26378	ELAV4_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D) (ELAVL4), transcript variant 1, mRNA.	148	RRM 2.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						CAGAAGGAACTGGAGCAACTT	0.468000														11			4		0	0	0.00024832	0	0
TTN	7273	broad.mit.edu	37	2	179640610	179640610	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26D-06A-11D-A19A-08	TCGA-GN-A26D-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fc0661b-2941-4418-99f2-8a1e8caa6201	61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa	g.chr2:179640610G>A	uc021vsy.1	-	27	6206	c.5981C>T	c.(5980-5982)tCg>tTg	p.S1994L	TTN_uc021vsz.1_Missense_Mutation_p.S1948L|TTN_uc021vta.1_Missense_Mutation_p.S1948L|TTN_uc021vtb.1_Missense_Mutation_p.S1948L|TTN_uc002unb.2_Missense_Mutation_p.S1994L|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1994							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGCTCTTCCGACTCTTCAGG	0.438000														9			7		0	0	0.000157383	0	0
SLC17A7	57030	broad.mit.edu	37	19	49933928	49933928	+	Missense_Mutation	SNP	C	T	T	rs145455204		TCGA-GN-A26D-06A-11D-A19A-08	TCGA-GN-A26D-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fc0661b-2941-4418-99f2-8a1e8caa6201	61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa	g.chr19:49933928C>T	uc002pnp.3	-	11	1703	c.1531G>A	c.(1531-1533)Gtt>Att	p.V511I	SLC17A7_uc002pno.3_Missense_Mutation_p.V173I	NM_020309	NP_064705	Q9P2U7	VGLU1_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7 (SLC17A7), mRNA.	511					glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		TCATGGCCAACGAAGCCACAC	0.632000														13			44		0	0	0.000125731	0	0
DENND1C	79958	broad.mit.edu	37	19	6477464	6477464	+	Silent	SNP	G	C	C			TCGA-GN-A26D-06A-11D-A19A-08	TCGA-GN-A26D-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fc0661b-2941-4418-99f2-8a1e8caa6201	61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa	g.chr19:6477464G>C	uc002mfe.3	-	6	464	c.372C>G	c.(370-372)acC>acG	p.T124T	DENND1C_uc002mfb.3_5'Flank|DENND1C_uc002mfc.3_5'Flank|DENND1C_uc002mfd.3_5'UTR|DENND1C_uc010xje.2_Silent_p.T80T	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	Homo sapiens DENN/MADD domain containing 1C (DENND1C), mRNA.	124	DENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						CCTCTGCCTCGGTGACCTGGG	0.617000														20			5		0	0	8.12818e-05	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8662006	8662006	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A26D-06A-11D-A19A-08	TCGA-GN-A26D-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fc0661b-2941-4418-99f2-8a1e8caa6201	61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa	g.chr19:8662006T>C	uc002mkj.1	-	7	1179	c.905A>G	c.(904-906)gAg>gGg	p.E302G	ADAMTS10_uc002mkk.1_5'UTR	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	302	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GTGGGTGATCTCCAGAGTGGG	0.592000														79			28		0	0	0.000339439	0	0
ITGAM	3684	broad.mit.edu	37	16	31284753	31284753	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26D-06A-11D-A19A-08	TCGA-GN-A26D-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fc0661b-2941-4418-99f2-8a1e8caa6201	61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa	g.chr16:31284753G>A	uc002ebr.3	+	7	870	c.772G>A	c.(772-774)Gat>Aat	p.D258N	ITGAM_uc002ebq.3_Missense_Mutation_p.D258N|ITGAM_uc010cam.1_5'Flank	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	258	VWFA.				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						TGTCATCACGGATGGAGAAAA	0.498000														28			14		0	0	0.000219431	0	0
LOC100499466	100499466	broad.mit.edu	37	17	66130838	66130838	+	RNA	SNP	G	A	A			TCGA-GN-A26D-06A-11D-A19A-08	TCGA-GN-A26D-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fc0661b-2941-4418-99f2-8a1e8caa6201	61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa	g.chr17:66130838G>A	uc002jgq.3	+	5		c.9961G>A								Homo sapiens uncharacterized LOC100499466 (LOC100499466), non-coding RNA.																		CTGGTCTAGGGGCGGCATGCT	0.577000														11			5		0	0	1.23904e-05	0	0
PES1	23481	broad.mit.edu	37	22	30984115	30984115	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A26D-06A-11D-A19A-08	TCGA-GN-A26D-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fc0661b-2941-4418-99f2-8a1e8caa6201	61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa	g.chr22:30984115T>C	uc003aij.2	-	2	258	c.151A>G	c.(151-153)Aag>Gag	p.K51E	PES1_uc003aik.2_Missense_Mutation_p.K51E|PES1_uc003aio.1_5'UTR|PES1_uc003ain.1_5'UTR	NM_014303	NP_055118	O00541	PESC_HUMAN	Homo sapiens pescadillo homolog 1, containing BRCT domain (zebrafish) (PES1), transcript variant 1, mRNA.	51	Required for 28S ribosomal RNA processing.|Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	PeBoW complex|chromosome|nucleoplasm|preribosome, large subunit precursor	protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						ACCTTCTTCTTGTGTTTGGGT	0.478000														62			42		0	0	0.000147903	0	0
ACBD4	79777	broad.mit.edu	37	17	43215194	43215194	+	Missense_Mutation	SNP	G	C	C			TCGA-GN-A26D-06A-11D-A19A-08	TCGA-GN-A26D-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fc0661b-2941-4418-99f2-8a1e8caa6201	61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa	g.chr17:43215194G>C	uc002iid.2	+	6	914	c.570G>C	c.(568-570)gaG>gaC	p.E190D	ACBD4_uc010wjj.2_Missense_Mutation_p.S203T|ACBD4_uc002iie.3_Missense_Mutation_p.S203T|ACBD4_uc002iif.3_Missense_Mutation_p.E190D|ACBD4_uc002iic.3_Missense_Mutation_p.E190D|ACBD4_uc010dae.3_Missense_Mutation_p.S125T	NM_001135707	NP_001129179	Q8NC06	ACBD4_HUMAN	Homo sapiens acyl-CoA binding domain containing 4 (ACBD4), transcript variant 5, mRNA.	190							fatty-acyl-CoA binding			kidney(1)|lung(3)|ovary(1)	5						TGGAGCCTGAGCTGGTGAGCC	0.597000														173			28		0	0	0.000279167	0	0
RASSF8	11228	broad.mit.edu	37	12	26217544	26217544	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A26D-06A-11D-A19A-08	TCGA-GN-A26D-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fc0661b-2941-4418-99f2-8a1e8caa6201	61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa	g.chr12:26217544G>A	uc001rgx.3	+	2	443	c.217G>A	c.(217-219)Gtg>Atg	p.V73M	RASSF8_uc001rgy.3_Missense_Mutation_p.V73M|RASSF8_uc001rgz.3_Missense_Mutation_p.V73M|RASSF8_uc009zjd.2_Missense_Mutation_p.V73M|RASSF8_uc009zje.2_Missense_Mutation_p.V73M	NM_001164748	NP_001158220	Q8NHQ8	RASF8_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family (N-terminal) member 8 (RASSF8), transcript variant 3, mRNA.	73	Ras-associating.				signal transduction					cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25	Colorectal(261;0.0847)					TGCTAGTGATGTGCAGCTCAT	0.453000														27			14		0	0	0.000422831	0	0
NNMT	4837	broad.mit.edu	37	11	114182786	114182786	+	Nonsense_Mutation	SNP	G	T	T			TCGA-GN-A26D-06A-11D-A19A-08	TCGA-GN-A26D-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fc0661b-2941-4418-99f2-8a1e8caa6201	61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa	g.chr11:114182786G>T	uc001por.1	+	4	646	c.382G>T	c.(382-384)Gag>Tag	p.E128*	NNMT_uc001pos.1_Nonsense_Mutation_p.E128*	NM_006169	NP_006160	P40261	NNMT_HUMAN	Homo sapiens nicotinamide N-methyltransferase (NNMT), mRNA.	128					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity			kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	TCCAGAGAAGGAGGAGAAGTT	0.547000														32			59		2.53126e-37	8.46946e-36	0.000147903	1	0
SON	6651	broad.mit.edu	37	21	34923346	34923346	+	Silent	SNP	T	C	C			TCGA-GN-A26D-06A-11D-A19A-08	TCGA-GN-A26D-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fc0661b-2941-4418-99f2-8a1e8caa6201	61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa	g.chr21:34923346T>C	uc002yse.1	+	2	1858	c.1809T>C	c.(1807-1809)gcT>gcC	p.A603A	SON_uc002ysb.1_Silent_p.A603A|SON_uc002ysc.3_Silent_p.A603A|SON_uc002ysd.3_5'UTR|SON_uc002ysf.1_Intron|SON_uc021win.1_Silent_p.A249A|SON_uc002ysg.3_5'Flank	NM_138927	NP_620305	P18583	SON_HUMAN	Homo sapiens SON DNA binding protein (SON), transcript variant f, mRNA.	603					RNA splicing|anti-apoptosis|cytokinesis|mRNA processing|regulation of RNA splicing|regulation of cell cycle|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TCATGGCAGCTGGGGCACTGG	0.657000														58			29		0	0	8.91981e-05	0	0
CASS4	57091	broad.mit.edu	37	20	55033678	55033678	+	Missense_Mutation	SNP	G	T	T			TCGA-GN-A26D-06A-11D-A19A-08	TCGA-GN-A26D-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fc0661b-2941-4418-99f2-8a1e8caa6201	61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa	g.chr20:55033678G>T	uc002xxp.2	+	6	2461	c.2236G>T	c.(2236-2238)Gac>Tac	p.D746Y	CASS4_uc010zze.1_Missense_Mutation_p.D692Y|CASS4_uc002xxr.2_Missense_Mutation_p.D746Y|CASS4_uc010gio.2_Missense_Mutation_p.D309Y	NM_001164116	NP_065089	Q9NQ75	CASS4_HUMAN	Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA.	746					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						CCTGCTCAAGGACGTAGCGCT	0.652000														21			12		2.27111e-07	6.53869e-06	0.00010058	1	0
MAP7D2	256714	broad.mit.edu	37	X	20134870	20134870	+	Missense_Mutation	SNP	T	G	G			TCGA-GN-A26D-06A-11D-A19A-08	TCGA-GN-A26D-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fc0661b-2941-4418-99f2-8a1e8caa6201	61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa	g.chrX:20134870T>G	uc010nfo.2	-	0	245	c.128A>C	c.(127-129)cAa>cCa	p.Q43P	MAP7D2_uc011mji.2_5'Flank|MAP7D2_uc004czr.2_Missense_Mutation_p.Q43P|MAP7D2_uc011mjj.2_Missense_Mutation_p.Q43P	NM_001168465	NP_001161937	Q96T17	MA7D2_HUMAN	Homo sapiens MAP7 domain containing 2 (MAP7D2), transcript variant 1, mRNA.	43										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						GATAATACCTTGAGGCCGGTA	0.711000														35			13		0	0	5.01169e-05	0	0
TAS2R38	5726	broad.mit.edu	37	7	141672894	141672894	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A26D-06A-11D-A19A-08	TCGA-GN-A26D-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fc0661b-2941-4418-99f2-8a1e8caa6201	61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa	g.chr7:141672894T>C	uc003vwx.1	-	0	680	c.596A>G	c.(595-597)tAt>tGt	p.Y199C		NM_176817	NP_789787	P59533	T2R38_HUMAN	Homo sapiens taste receptor, type 2, member 38 (TAS2R38), mRNA.	199					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					AGACCACAGATAGCAGAAGAG	0.423000														14			11		0	0	6.40141e-05	0	0
NFAM1	150372	broad.mit.edu	37	22	42805442	42805442	+	Splice_Site	SNP	T	A	A			TCGA-GN-A26D-06A-11D-A19A-08	TCGA-GN-A26D-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fc0661b-2941-4418-99f2-8a1e8caa6201	61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa	g.chr22:42805442T>A	uc003bcn.4	-	3	602	c.564_splice	c.e3+1	p.K188_splice		NM_145912	NP_666017	Q8NET5	NFAM1_HUMAN	Homo sapiens NFAT activating protein with ITAM motif 1 (NFAM1), mRNA.	188					B cell differentiation|inflammatory response|intracellular signal transduction|positive regulation of B cell receptor signaling pathway|positive regulation of cytokine production|positive regulation of sequence-specific DNA binding transcription factor activity	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			large_intestine(1)|lung(3)	4						ATCCCGTACCTTGTTCCAGAG	0.667000														125			7		0	0	0.000274275	0	0
NPTX2	4885	broad.mit.edu	37	7	98256538	98256538	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26D-06A-11D-A19A-08	TCGA-GN-A26D-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fc0661b-2941-4418-99f2-8a1e8caa6201	61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa	g.chr7:98256538C>T	uc003upl.2	+	3	1127	c.950C>T	c.(949-951)aCg>aTg	p.T317M		NM_002523	NP_002514	P47972	NPTX2_HUMAN	Homo sapiens neuronal pentraxin II (NPTX2), mRNA.	317	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			GTCACCTGGACGACACGGGAT	0.642000														63			10		0	0	6.40141e-05	0	0
PPTC7	160760	broad.mit.edu	37	12	110977692	110977692	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A26D-06A-11D-A19A-08	TCGA-GN-A26D-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fc0661b-2941-4418-99f2-8a1e8caa6201	61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa	g.chr12:110977692C>T	uc001trh.1	-	3	889	c.661G>A	c.(661-663)Gca>Aca	p.A221T		NM_139283	NP_644812	Q8NI37	PPTC7_HUMAN	Homo sapiens PTC7 protein phosphatase homolog (S. cerevisiae) (PPTC7), mRNA.	221	PP2C-like.						metal ion binding|phosphoprotein phosphatase activity			endometrium(1)|large_intestine(2)|lung(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	9						CCATCTGTTGCCGTCAGGATA	0.448000														57			9		0	0	2.17888e-05	0	0
ODF1	4956	broad.mit.edu	37	8	103572783	103572783	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A26D-06A-11D-A19A-08	TCGA-GN-A26D-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fc0661b-2941-4418-99f2-8a1e8caa6201	61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa	g.chr8:103572783C>T	uc003ykt.2	+	1	532	c.424C>T	c.(424-426)Cga>Tga	p.R142*		NM_024410	NP_077721	Q14990	ODFP1_HUMAN	Homo sapiens outer dense fiber of sperm tails 1 (ODF1), mRNA.	142					cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			AGTCAAAGTTCGAGTGAAGGA	0.448000														34			22		0	0	0.000375601	0	0
LRIG3	121227	broad.mit.edu	37	12	59268354	59268354	+	Splice_Site	SNP	C	T	T			TCGA-GN-A26D-06A-11D-A19A-08	TCGA-GN-A26D-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fc0661b-2941-4418-99f2-8a1e8caa6201	61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa	g.chr12:59268354C>T	uc001sqr.3	-	17	2942	c.2696_splice	c.e17-1	p.G899_splice	LRIG3_uc009zqh.3_Splice_Site_p.G839_splice|LRIG3_uc010ssh.2_Splice_Site	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 3 (LRIG3), transcript variant 2, mRNA.	899						integral to membrane			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)			TATGGCAGGTCCCTTTGAAAC	0.403000			T	ROS1	NSCLC									150			87		0	0	0.000147903	0	0
NOTCH4	4855	broad.mit.edu	37	6	32166871	32166872	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-GN-A26D-06A-11D-A19A-08	TCGA-GN-A26D-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fc0661b-2941-4418-99f2-8a1e8caa6201	61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa	g.chr6:32166871_32166872CC>AA	uc003obb.3	-	23	4505_4506	c.4366_4367GG>TT	c.(4366-4368)ggg>TTg	p.G1456L	NOTCH4_uc011dpt.2_5'Flank|NOTCH4_uc003oba.3_Missense_Mutation_p.G119L|NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc011dpw.1_5'Flank	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	1456					Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GAGAATCACCCCGGCCACTGGG	0.639000														199			10		0	0	6.4e-05	0	0
KBTBD12	166348	broad.mit.edu	37	3	127682078	127682078	+	Frame_Shift_Del	DEL	C	-	-			TCGA-GN-A26D-06A-11D-A19A-08	TCGA-GN-A26D-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fc0661b-2941-4418-99f2-8a1e8caa6201	61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa	g.chr3:127682078delC	uc010hsr.3	+	3	1542	c.1539delC	c.(1537-1539)tgcfs	p.C513fs	KBTBD12_uc003ejy.4_Frame_Shift_Del_p.C120fs|KBTBD12_uc010hsq.3_Non-coding_Transcript|KBTBD12_uc003eka.4_Frame_Shift_Del_p.C88fs|5S_rRNA_uc021xdi.1_5'Flank	NM_207335	NP_997218	Q3ZCT8	KBTBC_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 12 (KBTBD12), mRNA.	513										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						TTCGAAAATGCCTTGACGTGG	0.522													---	4	---	---	2	---					
NAALADL2	254827	broad.mit.edu	37	3	175473198	175473198	+	Frame_Shift_Del	DEL	T	-	-			TCGA-GN-A26D-06A-11D-A19A-08	TCGA-GN-A26D-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fc0661b-2941-4418-99f2-8a1e8caa6201	61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa	g.chr3:175473198delT	uc003fit.3	+	12	2268	c.2181delT	c.(2179-2181)ggtfs	p.G727fs		NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 2 (NAALADL2), mRNA.	727					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		CACCACCAGGTTTTTATAGGT	0.393													---	4	---	---	2	---					
POLE	5426	broad.mit.edu	37	12	133220099	133220100	+	Frame_Shift_Del	DEL	CA	-	-			TCGA-GN-A26D-06A-11D-A19A-08	TCGA-GN-A26D-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fc0661b-2941-4418-99f2-8a1e8caa6201	61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa	g.chr12:133220099_133220100delCA	uc001uks.1	-	33	4381_4382	c.4337_4338delTG	c.(4336-4338)gtgfs	p.V1446fs	POLE_uc001ukq.1_5'Flank|POLE_uc001ukr.1_Frame_Shift_Del_p.V250fs|POLE_uc010tbq.1_Non-coding_Transcript|POLE_uc009zyu.1_Frame_Shift_Del_p.V1419fs	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA.	1446					DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GTTTATTGACCACACACACACA	0.604								DNA polymerases (catalytic subunits)					---	427	---	---	10	---					
SPRED1	161742	broad.mit.edu	37	15	38643678	38643679	+	Frame_Shift_Ins	INS	-	A	A			TCGA-GN-A26D-06A-11D-A19A-08	TCGA-GN-A26D-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fc0661b-2941-4418-99f2-8a1e8caa6201	61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa	g.chr15:38643678_38643679insA	uc001zka.4	+	6	1483_1484	c.1148_1149insA	c.(1147-1149)tcafs	p.S383fs		NM_152594	NP_689807	Q7Z699	SPRE1_HUMAN	Homo sapiens sprouty-related, EVH1 domain containing 1 (SPRED1), mRNA.	383	SPR.				inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		ATGTCAGACTCAGAGGGAGATT	0.436									Legius syndrome				---	1	---	---	13	---					
PIGB	9488	broad.mit.edu	37	15	55631503	55631503	+	Frame_Shift_Del	DEL	T	-	-			TCGA-GN-A26D-06A-11D-A19A-08	TCGA-GN-A26D-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fc0661b-2941-4418-99f2-8a1e8caa6201	61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa	g.chr15:55631503delT	uc002act.3	+	6	1149	c.833delT	c.(832-834)attfs	p.I278fs	PIGB_uc010ugg.2_Frame_Shift_Del_p.I83fs	NM_004855	NP_004846	Q92521	PIGB_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class B (PIGB), mRNA.	278					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		ATTGATCGTATTTTTTTTGGC	0.284													---	6	---	---	3	---					
CDC27	996	broad.mit.edu	37	17	45247389	45247389	+	Frame_Shift_Del	DEL	T	-	-			TCGA-GN-A26D-06A-11D-A19A-08	TCGA-GN-A26D-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fc0661b-2941-4418-99f2-8a1e8caa6201	61aaf08e-dfe6-4ccc-9a71-7626e3c8f6fa	g.chr17:45247389delT	uc002ile.4	-	3	398	c.271delA	c.(271-273)atcfs	p.I91fs	CDC27_uc002ild.4_Frame_Shift_Del_p.I91fs|CDC27_uc002ilf.4_Frame_Shift_Del_p.I91fs|CDC27_uc010wkp.2_Frame_Shift_Del_p.I30fs|CDC27_uc010wkq.1_Non-coding_Transcript	NM_001114091	NP_001107563	P30260	CDC27_HUMAN	Homo sapiens cell division cycle 27 homolog (S. cerevisiae) (CDC27), transcript variant 1, mRNA.	91					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	p.I91fs*54(2)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						CCAGATAAGATTTGTTCCCCT	0.323													---	221	---	---	13	---					
