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
PADI4	23569	broad.mit.edu	37	1	17690079	17690079	+	Silent	SNP	C	C	T	rs143565531		TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr1:17690079C>T	ENST00000375448.4	+	16	1847	c.1821C>T	c.(1819-1821)aaC>aaT	p.N607N		NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	607					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	CCGTCATCAACGGCCGCTGCT	0.612													16	20	---	---	---	---
HTR1D	3352	broad.mit.edu	37	1	23520453	23520453	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr1:23520453A>G	ENST00000374619.1	-	1	769	c.260T>C	c.(259-261)gTt>gCt	p.V87A	HTR1D_ENST00000314113.3_Missense_Mutation_p.V87A	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	87					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CAAGATGGAAACCAAGAGGTC	0.532													45	145	---	---	---	---
NCK2	8440	broad.mit.edu	37	2	106497794	106497794	+	Silent	SNP	G	G	A			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr2:106497794G>A	ENST00000233154.4	+	4	679	c.237G>A	c.(235-237)aaG>aaA	p.K79K	NCK2_ENST00000522586.1_Intron|NCK2_ENST00000393349.2_Silent_p.K79K|NCK2_ENST00000451463.2_Intron	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	79					axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity			endometrium(1)|lung(3)|ovary(1)	5						GCCTCGGCAAGACGCGCAGGA	0.672													10	28	---	---	---	---
MFN1	55669	broad.mit.edu	37	3	179085842	179085842	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr3:179085842G>T	ENST00000471841.1	+	9	1052	c.926G>T	c.(925-927)gGa>gTa	p.G309V	MFN1_ENST00000280653.7_Missense_Mutation_p.G309V|MFN1_ENST00000263969.5_Missense_Mutation_p.G309V	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	309					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			CTTGCTGAAGGATTTCATGCA	0.333													3	51	---	---	---	---
SHROOM3	57619	broad.mit.edu	37	4	77677870	77677870	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr4:77677870C>T	ENST00000296043.6	+	8	5931	c.4978C>T	c.(4978-4980)Cag>Tag	p.Q1660*		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1660					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TCCTGATCCTCAGAAGAGTTC	0.488													5	64	---	---	---	---
ETNPPL	64850	broad.mit.edu	37	4	109675832	109675832	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr4:109675832T>A	ENST00000296486.3	-	5	599	c.445A>T	c.(445-447)Att>Ttt	p.I149F	ETNPPL_ENST00000510706.1_Missense_Mutation_p.I109F|ETNPPL_ENST00000512646.1_Missense_Mutation_p.I91F|ETNPPL_ENST00000411864.2_Missense_Mutation_p.I143F	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2			ethanolamine-phosphate phospho-lyase																		TATGGGCTAATCTCAATTAAG	0.313													19	40	---	---	---	---
HLA-G	3135	broad.mit.edu	37	6	29797242	29797242	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr6:29797242G>A	ENST00000428701.1	+	5	845	c.667G>A	c.(667-669)Gcc>Acc	p.A223T	HLA-G_ENST00000376815.3_Intron|HLA-G_ENST00000376828.2_Missense_Mutation_p.A228T|HLA-G_ENST00000360323.6_Missense_Mutation_p.A223T|HLA-G_ENST00000376818.3_Missense_Mutation_p.A131T	NM_002127.5	NP_002118.1	P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	223	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						TGACTATGAGGCCACCCTGAG	0.582													9	192	---	---	---	---
CDK19	23097	broad.mit.edu	37	6	110944514	110944514	+	Silent	SNP	A	A	T			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr6:110944514A>T	ENST00000368911.3	-	9	1091	c.912T>A	c.(910-912)ccT>ccA	p.P304P	CDK19_ENST00000323817.3_Silent_p.P244P|CDK19_ENST00000413605.2_Silent_p.P180P	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19	304	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						CTTTGCTGTCAGGCTTGACCT	0.458													3	123	---	---	---	---
GTF2IRD2P1	401375	broad.mit.edu	37	7	72683335	72683335	+	RNA	SNP	C	C	T			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr7:72683335C>T	ENST00000425256.1	-	0	188																											TGCACTACCACAGCCGACTGG	0.498													46	101	---	---	---	---
DHTKD1	55526	broad.mit.edu	37	10	12133636	12133636	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr10:12133636C>T	ENST00000263035.4	+	6	1174	c.1112C>T	c.(1111-1113)aCc>aTc	p.T371I	DHTKD1_ENST00000465617.1_Intron	NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	371					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			CTGGGTTACACCACTCCAGCT	0.448													5	91	---	---	---	---
FAM53B	9679	broad.mit.edu	37	10	126370270	126370270	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr10:126370270C>G	ENST00000337318.3	-	4	1023	c.812G>C	c.(811-813)tGt>tCt	p.C271S	FAM53B_ENST00000392754.3_Missense_Mutation_p.C271S|FAM53B_ENST00000280780.6_Missense_Mutation_p.C271S|RP11-12J10.3_ENST00000494792.1_3'UTR	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	271										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		GTTAAGGACACACGGCTGGGA	0.577													3	7	---	---	---	---
DCHS1	8642	broad.mit.edu	37	11	6652623	6652623	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr11:6652623G>C	ENST00000299441.3	-	8	4102	c.3691C>G	c.(3691-3693)Cct>Gct	p.P1231A	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1231	Cadherin 12.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTTCCCGGAGGCACGCGGTCT	0.552													18	150	---	---	---	---
OR4D6	219983	broad.mit.edu	37	11	59225028	59225028	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr11:59225028A>G	ENST00000300127.2	+	1	618	c.595A>G	c.(595-597)Atg>Gtg	p.M199V		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						GGAGCTTTTCATGATCTCTAA	0.537													8	116	---	---	---	---
SLC39A5	283375	broad.mit.edu	37	12	56628745	56628745	+	Silent	SNP	T	T	A			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr12:56628745T>A	ENST00000266980.4	+	4	902	c.609T>A	c.(607-609)ccT>ccA	p.P203P	SLC39A5_ENST00000454355.2_Silent_p.P203P	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	203					zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTCCGGCCCCTGCACCCCCAG	0.627													46	102	---	---	---	---
HNF1A	6927	broad.mit.edu	37	12	121434123	121434123	+	Silent	SNP	C	C	T			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr12:121434123C>T	ENST00000257555.6	+	5	1240	c.1014C>T	c.(1012-1014)ggC>ggT	p.G338G	HNF1A_ENST00000541395.1_Silent_p.G338G|HNF1A_ENST00000543427.1_Silent_p.G221G|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000544413.1_Silent_p.G338G|HNF1A_ENST00000400024.2_Silent_p.G338G|HNF1A_ENST00000402929.1_Silent_p.G338G			P20823	HNF1A_HUMAN	HNF1 homeobox A	338					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CAAGCAGCGGCGGTCCCTTAG	0.622									Hepatic Adenoma, Familial Clustering of				18	171	---	---	---	---
CHD8	57680	broad.mit.edu	37	14	21860705	21860705	+	Silent	SNP	T	T	A			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr14:21860705T>A	ENST00000399982.2	-	33	6796	c.6732A>T	c.(6730-6732)cgA>cgT	p.R2244R	CHD8_ENST00000557364.1_Silent_p.R2244R|CHD8_ENST00000430710.3_Silent_p.R1965R	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2244					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CATCCATGCCTCGGCGAAGTT	0.517													13	194	---	---	---	---
SRP54	6729	broad.mit.edu	37	14	35470176	35470176	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr14:35470176C>G	ENST00000556994.1	+	5	602	c.205C>G	c.(205-207)Ctt>Gtt	p.L69V	SRP54_ENST00000546080.1_Missense_Mutation_p.L20V|SRP54_ENST00000216774.6_Missense_Mutation_p.L69V|SRP54_ENST00000555557.1_Missense_Mutation_p.L5V|SRP54_ENST00000555535.1_3'UTR			P61011	SRP54_HUMAN	signal recognition particle 54kDa	69	G-domain.				GTP catabolic process|response to drug|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation	cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|drug binding|endoplasmic reticulum signal peptide binding|GDP binding|GTP binding|nucleoside-triphosphatase activity|ribonucleoprotein binding	p.L69V(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)		GGCATCTGGTCTTAACAAAAG	0.353													9	30	---	---	---	---
TTC6	319089	broad.mit.edu	37	14	38296498	38296498	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr14:38296498C>T	ENST00000553443.1	+	29	5225	c.5225C>T	c.(5224-5226)aCt>aTt	p.T1742I	TTC6_ENST00000476979.1_Missense_Mutation_p.T376I|TTC6_ENST00000382320.3_Missense_Mutation_p.T456I|TTC6_ENST00000267368.7_Missense_Mutation_p.T376I					tetratricopeptide repeat domain 6											central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	14	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176)	GBM - Glioblastoma multiforme(112;0.00551)		GATGCAATTACTCTAAACCCC	0.403													68	103	---	---	---	---
CHGA	1113	broad.mit.edu	37	14	93399080	93399080	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr14:93399080C>T	ENST00000216492.5	+	7	1454	c.1174C>T	c.(1174-1176)Cga>Tga	p.R392*	CHGA_ENST00000334654.4_Nonsense_Mutation_p.R241*	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	392					regulation of blood pressure	extracellular region|stored secretory granule				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		GCAGCTGCGACGAGGCTGGAG	0.701													6	10	---	---	---	---
JAG2	3714	broad.mit.edu	37	14	105618060	105618060	+	Silent	SNP	G	G	A			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr14:105618060G>A	ENST00000331782.3	-	8	1459	c.1056C>T	c.(1054-1056)acC>acT	p.T352T	JAG2_ENST00000347004.2_Silent_p.T352T	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	352	EGF-like 4.				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		ACGGGTTGGAGGTGCAGGCGT	0.682													3	34	---	---	---	---
USP8	9101	broad.mit.edu	37	15	50790907	50790907	+	Silent	SNP	T	T	C			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr15:50790907T>C	ENST00000433963.1	+	20	3653	c.3153T>C	c.(3151-3153)taT>taC	p.Y1051Y	USP8_ENST00000307179.4_Silent_p.Y1051Y|USP8_ENST00000425032.3_Silent_p.Y945Y|USP8_ENST00000396444.3_Silent_p.Y1051Y|RP11-562A8.4_ENST00000560380.1_RNA			P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	1051					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		TGAAGAAATATAATTTGTTTT	0.328													15	41	---	---	---	---
CHD9	80205	broad.mit.edu	37	16	53243397	53243397	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr16:53243397C>A	ENST00000566029.1	+	3	1665	c.1456C>A	c.(1456-1458)Cca>Aca	p.P486T	CHD9_ENST00000447540.1_Missense_Mutation_p.P486T|CHD9_ENST00000564845.1_Missense_Mutation_p.P486T|CHD9_ENST00000398510.3_Missense_Mutation_p.P486T			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	486					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TCTGTAGCCTCCATCTTCCAA	0.348													5	14	---	---	---	---
CDH3	1001	broad.mit.edu	37	16	68712160	68712160	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr16:68712160T>C	ENST00000264012.4	+	4	914	c.370T>C	c.(370-372)Ttc>Ctc	p.F124L	CDH3_ENST00000581171.1_Missense_Mutation_p.F69L|CDH3_ENST00000429102.2_Missense_Mutation_p.F124L	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	124	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		CAAGGGTCCCTTCCCCCAGAG	0.507													34	96	---	---	---	---
NCOR1	9611	broad.mit.edu	37	17	15965015	15965015	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr17:15965015T>C	ENST00000268712.3	-	37	5838	c.5581A>G	c.(5581-5583)Agt>Ggt	p.S1861G	NCOR1_ENST00000395851.1_Intron|NCOR1_ENST00000395857.3_Missense_Mutation_p.S445G	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1861	Interaction with C1D (By similarity).				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)		TGCTGTTCACTAACTGCTGCT	0.483													43	97	---	---	---	---
SPOP	8405	broad.mit.edu	37	17	47696424	47696424	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr17:47696424G>C	ENST00000393331.3	-	7	869	c.399C>G	c.(397-399)ttC>ttG	p.F133L	SPOP_ENST00000504102.1_Missense_Mutation_p.F133L|SPOP_ENST00000393328.2_Missense_Mutation_p.F133L|SPOP_ENST00000503676.1_Missense_Mutation_p.F133L|SPOP_ENST00000347630.2_Missense_Mutation_p.F133L	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.F133L(7)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TGAATTTCTTGAATCCCCAGT	0.448										Prostate(2;0.17)			54	91	---	---	---	---
MIR99AHG	388815	broad.mit.edu	37	21	17443441	17443441	+	RNA	SNP	T	T	C			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr21:17443441T>C	ENST00000458468.1	+	0	35					NR_027790.1																						TAGATGGATCTGAGAACGCTG	0.463													40	130	---	---	---	---
ARHGEF9	23229	broad.mit.edu	37	X	62857909	62857909	+	Silent	SNP	C	C	T			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chrX:62857909C>T	ENST00000253401.6	-	10	2350	c.1550G>A	c.(1549-1551)tGa>tAa	p.*517*	ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000437457.2_Silent_p.*464*|ARHGEF9_ENST00000374872.1_Silent_p.*496*|ARHGEF9_ENST00000374870.4_Silent_p.*415*|ARHGEF9_ENST00000433323.2_Silent_p.*244*|ARHGEF9_ENST00000374878.1_Intron	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	0					apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						CTGTAGGTATCATTTTTTGAA	0.403													6	1	---	---	---	---
RGAG4	340526	broad.mit.edu	37	X	71351091	71351091	+	Silent	SNP	C	C	T			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chrX:71351091C>T	ENST00000545866.1	-	1	667	c.300G>A	c.(298-300)tcG>tcA	p.S100S	RGAG4_ENST00000609883.1_Silent_p.S100S|NHSL2_ENST00000540800.1_Intron	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	100										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					AAAGATCATCCGAGATACAGT	0.657													9	5	---	---	---	---
GBA3	57733	broad.mit.edu	37	4	22729298	22729299	+	RNA	INS	-	-	T			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr4:22729298_22729299insT	ENST00000511446.2	+	0	62				GBA3_ENST00000503442.1_RNA|GBA3_ENST00000508166.1_RNA	NM_001277225.1	NP_001264154.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TTTCTTTCACATTTTCAAATGA	0.421													58	119	---	---	---	---
