Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
PDGFB	5155	broad.mit.edu	37	22	39626111	39626111	+	Silent	SNP	C	C	T	rs149693918		TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr22:39626111C>T	uc003axf.3	-	4	1568	c.579G>A	c.(577-579)ccG>ccA	p.P193P	PDGFB_uc003axe.3_Silent_p.P178P	NM_002608	NP_002599	P01127	PDGFB_HUMAN	Homo sapiens platelet-derived growth factor beta polypeptide (PDGFB), transcript variant 1, mRNA.	193					activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway	Golgi membrane|basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity		COL1A1/PDGFB(429)	central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Melanoma(58;0.04)				Becaplermin(DB00102)	GGGAACCCCCCGGGCTTCGGG	0.622000			T	COL1A1	DFSP								11	109					0	0	1	0	0
C1orf94	84970	broad.mit.edu	37	1	34684353	34684353	+	Silent	SNP	A	A	C			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr1:34684353A>C	uc001bxt.3	+	6	2626	c.1788A>C	c.(1786-1788)atA>atC	p.I596I	C1orf94_uc001bxs.4_Silent_p.I406I	NM_001134734	NP_116273	Q6P1W5	CA094_HUMAN	Homo sapiens chromosome 1 open reading frame 94 (C1orf94), transcript variant 1, mRNA.	406							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				GGAATGGCATAAACTTTTAGA	0.502000													9	86					0	0	1	0	0
PPP1R14C	81706	broad.mit.edu	37	6	150569956	150569956	+	Nonstop_Mutation	SNP	A	A	C			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr6:150569956A>C	uc003qnt.3	+	3	639	c.498A>C	c.(496-498)tgA>tgC	p.*166C		NM_030949	NP_112211	Q8TAE6	PP14C_HUMAN	Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 14C (PPP1R14C), mRNA.	0					regulation of phosphorylation	cytoplasm|membrane				endometrium(1)|large_intestine(1)|prostate(1)	3		Ovarian(120;0.0284)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;9.14e-12)		AGAGTGTATGATTCTGGAACA	0.413000													4	33					0	0	1	0	0
KIF21A	55605	broad.mit.edu	37	12	39696874	39696874	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr12:39696874G>A	uc001rly.3	-	35	5044	c.4624C>T	c.(4624-4626)Cat>Tat	p.H1542Y	KIF21A_uc001rlv.3_Missense_Mutation_p.H487Y|KIF21A_uc001rlw.3_Missense_Mutation_p.H812Y|KIF21A_uc001rlx.3_Missense_Mutation_p.H1529Y|KIF21A_uc001rlz.3_Missense_Mutation_p.H1489Y|KIF21A_uc010skl.2_Missense_Mutation_p.H1505Y|KIF21A_uc001rlt.3_Missense_Mutation_p.H162Y|KIF21A_uc001rlu.3_Missense_Mutation_p.H162Y	NM_001173464	NP_001166935	Q7Z4S6	KI21A_HUMAN	Homo sapiens kinesin family member 21A (KIF21A), transcript variant 1, mRNA.	1542					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CCATCATAATGAGGGGGTTCA	0.393000													10	85					0	0	1	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50658759	50658759	+	Silent	SNP	C	C	A			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr22:50658759C>A	uc003bkb.1	-	15	4541	c.4029G>T	c.(4027-4029)gtG>gtT	p.V1343V	TUBGCP6_uc003bka.1_Silent_p.V430V|TUBGCP6_uc010har.1_Silent_p.V1335V|TUBGCP6_uc010has.1_Non-coding_Transcript	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	Homo sapiens tubulin, gamma complex associated protein 6 (TUBGCP6), mRNA.	1343					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CGTTCTCCCCCACGCTGATGC	0.642000													4	41					0	0	1	0	0
ZNF695	57116	broad.mit.edu	37	1	247150639	247150639	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr1:247150639G>T	uc009xgu.3	-	3	1363	c.1178C>A	c.(1177-1179)tCa>tAa	p.S393*	ZNF695_uc001ica.3_Intron|ZNF695_uc001icb.2_Intron|ZNF695_uc009xgt.2_Intron|ZNF695_uc001ibx.3_Intron|ZNF695_uc001iby.3_Intron	NM_020394	NP_065127	Q8IW36	ZN695_HUMAN	Homo sapiens zinc finger protein 695 (ZNF695), transcript variant 1, mRNA.	393					regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			AATAAGGTATGAGAACCAGGT	0.403000													4	55					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22156520	22156520	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr19:22156520T>C	uc021urr.1	-	3	1465	c.1316A>G	c.(1315-1317)aAc>aGc	p.N439S	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTCCATAAGGTTTGAGGACCA	0.373000													7	67					0	0	1	0	0
C9orf172	389813	broad.mit.edu	37	9	139741530	139741530	+	Silent	SNP	C	C	A			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr9:139741530C>A	uc011meh.2	+	0	2664	c.2664C>A	c.(2662-2664)ggC>ggA	p.G888G	PHPT1_uc011mei.2_5'Flank|PHPT1_uc004cjq.4_5'Flank	NM_001080482	NP_001073951	C9J069	CI172_HUMAN	Homo sapiens chromosome 9 open reading frame 172 (C9orf172), mRNA.	888										endometrium(2)|large_intestine(1)|lung(6)	9						ATCAGGACGGCGAGGCGGGCC	0.776000													2	0					0	0	1	0	0
NCF4	4689	broad.mit.edu	37	22	37263492	37263492	+	Silent	SNP	C	C	T			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr22:37263492C>T	uc003apy.4	+	3	514	c.330C>T	c.(328-330)aaC>aaT	p.N110N	NCF4_uc003apz.4_Silent_p.N110N	NM_000631	NP_000622	Q15080	NCF4_HUMAN	Homo sapiens neutrophil cytosolic factor 4, 40kDa (NCF4), transcript variant 1, mRNA.	110	PX.				cell communication|immune response|oxidation-reduction process	NADPH oxidase complex|cytosol	phosphatidylinositol binding|protein dimerization activity			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						CTGCCCTCAACGCCTACATGA	0.577000													4	38					0	0	1	0	0
CHST8	64377	broad.mit.edu	37	19	34263070	34263070	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr19:34263070C>A	uc002nus.4	+	4	882	c.377C>A	c.(376-378)cCg>cAg	p.P126Q	CHST8_uc002nut.4_Missense_Mutation_p.P126Q|CHST8_uc002nuu.3_Missense_Mutation_p.P126Q	NM_001127895	NP_071912	Q9H2A9	CHST8_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 (CHST8), transcript variant 2, mRNA.	126					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					GCGACCATCCCGGCCAACAGC	0.711000													3	8					0	0	1	0	0
TARS2	80222	broad.mit.edu	37	1	150464120	150464120	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr1:150464120C>A	uc001euq.3	+	5	684	c.677C>A	c.(676-678)cCa>cAa	p.P226Q	TARS2_uc010pcd.1_Non-coding_Transcript|TARS2_uc001eur.3_Missense_Mutation_p.P226Q|TARS2_uc009wlt.3_Intron|TARS2_uc009wls.3_Intron	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	Homo sapiens threonyl-tRNA synthetase 2, mitochondrial (putative) (TARS2), nuclear gene encoding mitochondrial protein, mRNA.	226					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	GTGACAGGTCCAACAGCAACA	0.413000													4	58					0	0	1	0	0
ZNF394	84124	broad.mit.edu	37	7	99096409	99096409	+	Silent	SNP	G	G	A			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr7:99096409G>A	uc003uqs.3	-	1	674	c.513C>T	c.(511-513)cgC>cgT	p.R171R	ZNF394_uc003uqt.3_Intron|ZNF394_uc003uqu.1_Silent_p.R171R	NM_032164	NP_115540	Q53GI3	ZN394_HUMAN	Homo sapiens zinc finger protein 394 (ZNF394), mRNA.	171	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CTGGGTCCAGGCGCTCCCACT	0.582000													5	56					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10366430	10366430	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr17:10366430G>A	uc002gmn.3	-	9	992	c.881C>T	c.(880-882)tCc>tTc	p.S294F	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	294	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTTCTTATTGGACAGGATTTG	0.368000													6	58					0	0	1	0	0
OR2B11	127623	broad.mit.edu	37	1	247615283	247615283	+	Splice_Site	SNP	A	A	T			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr1:247615283A>T	uc010pyx.2	-	1	1	c.1_splice	c.e1-1	p.M1_splice		NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 11 (OR2B11), mRNA.	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GTCACTTTTCATGTTGCGGCA	0.473000													8	45					0	0	1	0	0
PHF2P1	266695	broad.mit.edu	37	13	19622290	19622290	+	RNA	SNP	C	C	T	rs146630349	by1000genomes	TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr13:19622290C>T	uc001umb.1	-	9		c.3521G>A								Homo sapiens PHD finger protein 2 pseudogene 1 (PHF2P1), non-coding RNA.																		ATCAAGCAGGCGACGATGGGG	0.582000													7	37					0	0	1	0	0
TBP	6908	broad.mit.edu	37	6	170871088	170871088	+	Silent	SNP	G	G	A			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr6:170871088G>A	uc003qxu.3	+	2	543	c.264G>A	c.(262-264)caG>caA	p.Q88Q	TBP_uc011ehf.2_Silent_p.Q68Q|TBP_uc003qxt.3_Silent_p.Q88Q|TBP_uc011ehg.1_Silent_p.Q88Q	NM_003194	NP_001165556	P20226	TBP_HUMAN	Homo sapiens TATA box binding protein (TBP), transcript variant 1, mRNA.	88	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q88Q(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcagc	0.612000													4	38					0	0	1	0	0
C6orf47	57827	broad.mit.edu	37	6	31627633	31627633	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr6:31627633C>A	uc003nvm.1	-	0	917	c.92G>T	c.(91-93)cGg>cTg	p.R31L		NM_021184	NP_067007	O95873	CF047_HUMAN	Homo sapiens chromosome 6 open reading frame 47 (C6orf47), mRNA.	31										NS(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						GCTGTCCACCCGTCTGGGTTC	0.612000													3	31					0	0	1	0	0
FOXO3	2309	broad.mit.edu	37	6	108985412	108985412	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr6:108985412T>C	uc003psk.2	+	2	1692	c.1376T>C	c.(1375-1377)tTc>tCc	p.F459S	FOXO3_uc003psm.2_Missense_Mutation_p.F459S|FOXO3_uc011ean.1_Missense_Mutation_p.F239S|FOXO3_uc010kdj.1_Missense_Mutation_p.F239S	NM_201559	NP_963853	O43524	FOXO3_HUMAN	Homo sapiens forkhead box O3 (FOXO3), transcript variant 2, mRNA.	459					antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		CCAGCTACCTTCTCTTCCATG	0.532000													7	63					0	0	1	0	0
NR2C2AP	126382	broad.mit.edu	37	19	19313832	19313832	+	Splice_Site	SNP	C	C	A			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr19:19313832C>A	uc002nlx.3	-	1	407	c.38_splice	c.e1+1	p.R13_splice	NR2C2AP_uc010xqq.1_5'Flank	NM_176880	NP_795361	Q86WQ0	NR2CA_HUMAN	Homo sapiens nuclear receptor 2C2-associated protein (NR2C2AP), mRNA.	13					cell adhesion|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm				breast(1)|cervix(1)|kidney(2)|ovary(1)	5			Epithelial(12;0.00235)			AGACTCTTACCTGCTCACTGT	0.617000													4	47					0	0	1	0	0
SP4	6671	broad.mit.edu	37	7	21521732	21521732	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr7:21521732A>G	uc003sva.3	+	4	2279	c.2098A>G	c.(2098-2100)Acc>Gcc	p.T700A	SP4_uc003svb.3_Missense_Mutation_p.T387A	NM_003112	NP_003103	Q02446	SP4_HUMAN	Homo sapiens Sp4 transcription factor (SP4), mRNA.	700					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						ACATAGAAGAACCCATACAGG	0.348000													6	66					0	0	1	0	0
NT5C3L	115024	broad.mit.edu	37	17	39983679	39983679	+	Splice_Site	SNP	T	T	C			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr17:39983679T>C	uc021txo.1	-	8	846	c.768_splice	c.e8+1	p.K256_splice	NT5C3L_uc021txn.1_Splice_Site_p.K248_splice|NT5C3L_uc002hxy.4_Splice_Site_p.K248_splice	NM_052935	NP_443167	C9JKC4	C9JKC4_HUMAN	Homo sapiens 5'-nucleotidase, cytosolic III-like (NT5C3L), transcript variant 1, mRNA.	256						cytoplasm	5'-nucleotidase activity|magnesium ion binding			kidney(1)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	11		Breast(137;0.000162)		BRCA - Breast invasive adenocarcinoma(366;0.15)		TCTACCCACCTTGTCATTCAG	0.453000													6	106					0	0	1	0	0
GJB4	127534	broad.mit.edu	37	1	35226969	35226969	+	Silent	SNP	G	G	A			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr1:35226969G>A	uc001bxw.4	+	0	114	c.114G>A	c.(112-114)gtG>gtA	p.V38V	GJB4_uc001bxv.1_Silent_p.V38V	NM_153212	NP_694944	Q9NTQ9	CXB4_HUMAN	Homo sapiens gap junction protein, beta 4, 30.3kDa (GJB4), mRNA.	38					cell communication	connexon complex|integral to membrane	gap junction channel activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				TGTACGTGGTGGCAGCGGAGG	0.582000													6	47					0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	44127674	44127674	+	Missense_Mutation	SNP	T	T	C	rs150224112		TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr22:44127674T>C	uc003bdy.2	-	7	976	c.662A>G	c.(661-663)aAc>aGc	p.N221S	EFCAB6_uc003bdz.2_Missense_Mutation_p.N69S|EFCAB6_uc010gzi.2_Missense_Mutation_p.N69S|EFCAB6_uc010gzk.1_Non-coding_Transcript|EFCAB6_uc011aqa.2_Missense_Mutation_p.N115S|EFCAB6_uc003bea.2_Missense_Mutation_p.N218S|EFCAB6_uc003beb.4_Missense_Mutation_p.N115S	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	221					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CTTGTGGATGTTGTAGTGTTT	0.323000													4	36					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50850692	50850692	+	Silent	SNP	T	T	C			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr2:50850692T>C	uc021vhh.1	-	4	1815	c.894A>G	c.(892-894)caA>caG	p.Q298Q	NRXN1_uc002rxb.4_5'UTR|NRXN1_uc021vhg.1_Silent_p.Q331Q|NRXN1_uc021vhi.1_Silent_p.Q327Q|NRXN1_uc021vhj.1_Silent_p.Q294Q|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	298	Laminin G-like 2.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GAATGGGGTTTTGAGACAAGT	0.378000													7	105					0	0	1	0	0
ADH1C	126	broad.mit.edu	37	4	100273819	100273819	+	RNA	SNP	C	C	T			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr4:100273819C>T	uc021xqi.1	-	0		c.99G>A				NM_000669		P00326	ADH1G_HUMAN	Homo sapiens alcohol dehydrogenase 1C (class I), gamma polypeptide (ADH1C), mRNA.						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	GCTTACTTTTCCTGCTGTGCT	0.313000													12	86					0	0	1	0	0
GUF1	60558	broad.mit.edu	37	4	44692859	44692859	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr4:44692859A>C	uc003gww.4	+	11	1668	c.1461A>C	c.(1459-1461)aaA>aaC	p.K487N		NM_021927	NP_068746	Q8N442	GUF1_HUMAN	Homo sapiens GUF1 GTPase homolog (S. cerevisiae) (GUF1), mRNA.	487					translation	mitochondrial inner membrane	GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						ACACTGGAAAAATAATGATGC	0.318000													8	87					0	0	1	0	0
SPRED2	200734	broad.mit.edu	37	2	65540895	65540895	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr2:65540895C>T	uc002sdr.4	-	5	1532	c.997G>A	c.(997-999)Gtg>Atg	p.V333M	SPRED2_uc010fcw.3_Missense_Mutation_p.V330M	NM_181784	NP_861449	Q7Z698	SPRE2_HUMAN	Homo sapiens sprouty-related, EVH1 domain containing 2 (SPRED2), transcript variant 1, mRNA.	333	SPR.				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						CAAGTTCTCACGGAGTCGGGC	0.637000													6	157					0	0	1	0	0
AMZ1	155185	broad.mit.edu	37	7	2748832	2748832	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr7:2748832G>A	uc003smr.1	+	4	1086	c.725G>A	c.(724-726)gGc>gAc	p.G242D	AMZ1_uc003sms.1_Intron|AMZ1_uc011jwa.1_5'UTR	NM_133463	NP_597720	Q400G9	AMZ1_HUMAN	Homo sapiens archaelysin family metallopeptidase 1 (AMZ1), mRNA.	242							metallopeptidase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		CAGGACAGGGGCTGGGCCCTG	0.687000													5	35					0	0	1	0	0
USP31	57478	broad.mit.edu	37	16	23083472	23083472	+	Silent	SNP	C	C	A			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr16:23083472C>A	uc002dll.3	-	14	2382	c.2382G>T	c.(2380-2382)ccG>ccT	p.P794P	USP31_uc002dlk.3_Silent_p.P66P|USP31_uc010vca.2_Silent_p.P97P|USP31_uc010bxm.3_Silent_p.P82P	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	Homo sapiens ubiquitin specific peptidase 31 (USP31), mRNA.	794	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		GCTTGCTGCCCGGGAGCCGGC	0.617000													4	89					0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219892530	219892530	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr2:219892530T>C	uc002vjl.1	-	12	2137	c.2053A>G	c.(2053-2055)Atg>Gtg	p.M685V	CCDC108_uc010fwa.1_Missense_Mutation_p.M128V|CCDC108_uc010zkp.1_Missense_Mutation_p.M674V|CCDC108_uc010zkq.1_Missense_Mutation_p.M620V	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	685						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGACCACCATGATCTTGCCC	0.622000													13	47					0	0	1	0	0
GAS2L2	246176	broad.mit.edu	37	17	34072759	34072759	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr17:34072759C>A	uc002hjv.2	-	5	1785	c.1757G>T	c.(1756-1758)cGg>cTg	p.R586L		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	586					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGGTGTGTACCGCCCCTCCTG	0.582000													5	108					0	0	1	0	0
SESN1	27244	broad.mit.edu	37	6	109321871	109321871	+	Silent	SNP	C	C	A			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr6:109321871C>A	uc003psu.3	-	3	984	c.552G>T	c.(550-552)gcG>gcT	p.A184A	SESN1_uc021zdp.1_Silent_p.A59A|SESN1_uc003pst.4_Silent_p.A125A	NM_014454	NP_001186863	Q9Y6P5	SESN1_HUMAN	Homo sapiens sestrin 1 (SESN1), transcript variant 1, mRNA.	125					cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		GATGTCTTGCCGCAGCCTTAA	0.353000													4	38					0	0	1	0	0
CCDC41	51134	broad.mit.edu	37	12	94763798	94763798	+	Silent	SNP	T	T	C			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr12:94763798T>C	uc001tdd.3	-	8	1534	c.948A>G	c.(946-948)aaA>aaG	p.K316K	CCDC41_uc001tde.3_Silent_p.K316K|CCDC41_uc009zsw.1_Non-coding_Transcript|CCDC41_uc001tdf.3_Silent_p.K316K	NM_016122	NP_057206	Q9Y592	CCD41_HUMAN	Homo sapiens coiled-coil domain containing 41 (CCDC41), transcript variant 1, mRNA.	308										breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						TGTTTGAATGTTTAAGTTCTT	0.328000													5	153					0	0	1	0	0
GSDMC	56169	broad.mit.edu	37	8	130762274	130762274	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr8:130762274G>A	uc003ysr.3	-	11	2057	c.1175C>T	c.(1174-1176)cCa>cTa	p.P392L		NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN	Homo sapiens gasdermin C (GSDMC), mRNA.	392						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						GGGGTCCTTTGGGTTAAACCA	0.448000													4	17					0	0	1	0	0
PPFIBP2	8495	broad.mit.edu	37	11	7670431	7670431	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr11:7670431A>G	uc001mfj.4	+	19	2351	c.1963A>G	c.(1963-1965)Aga>Gga	p.R655G	PPFIBP2_uc010rbb.1_Missense_Mutation_p.R578G|PPFIBP2_uc001mfk.1_Intron|PPFIBP2_uc010rbc.2_Missense_Mutation_p.R589G|PPFIBP2_uc010rbe.2_Missense_Mutation_p.R543G|PPFIBP2_uc001mfl.4_Missense_Mutation_p.R512G|PPFIBP2_uc009yfj.1_Missense_Mutation_p.R299G	NM_003621	NP_003612	Q8ND30	LIPB2_HUMAN	Homo sapiens PTPRF interacting protein, binding protein 2 (liprin beta 2) (PPFIBP2), mRNA.	655	SAM 2.				DNA integration|cell communication	intracellular	DNA binding|integrase activity|protein binding			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		TCATGAATCTAGAGTTGACAG	0.428000													4	58					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70925905	70925905	+	Silent	SNP	G	G	A			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr12:70925905G>A	uc001swb.4	-	29	5790	c.5760C>T	c.(5758-5760)atC>atT	p.I1920I	BC031864_uc001svz.3_Intron|PTPRB_uc010sto.2_Silent_p.I1830I|PTPRB_uc010stp.2_Silent_p.I1830I|PTPRB_uc001swc.4_Silent_p.I2138I|PTPRB_uc001swa.4_Silent_p.I2050I	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1920	Tyrosine-protein phosphatase.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ACTGCTGGAGGATTCGGTCCA	0.448000													6	40					0	0	1	0	0
FZD8	8325	broad.mit.edu	37	10	35929635	35929635	+	Silent	SNP	C	C	A			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr10:35929635C>A	uc001iyz.1	-	0	728	c.723G>T	c.(721-723)gtG>gtT	p.V241V		NM_031866	NP_114072	Q9H461	FZD8_HUMAN	Homo sapiens frizzled family receptor 8 (FZD8), mRNA.	241					T cell differentiation in thymus|axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|vasculature development	Golgi apparatus|cell projection|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						GCTCGCTGGACACGCTCACCA	0.736000													5	40					0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43460090	43460090	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr18:43460090C>A	uc002lbm.3	-	31	5717	c.5617G>T	c.(5617-5619)Gag>Tag	p.E1873*	EPG5_uc010xcr.1_Non-coding_Transcript|EPG5_uc010xcs.1_Non-coding_Transcript|EPG5_uc010xcq.1_Nonsense_Mutation_p.E427*|EPG5_uc002lbn.2_Nonsense_Mutation_p.E748*	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	Homo sapiens ectopic P-granules autophagy protein 5 homolog (C. elegans) (EPG5), mRNA.	1873					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						ACGGCGCCCTCGGTGGACGCT	0.607000											OREG0024951	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	51					0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76891475	76891475	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr11:76891475G>T	uc001oyb.2	+	21	2914	c.2642G>T	c.(2641-2643)cGg>cTg	p.R881L	MYO7A_uc010rsl.2_Missense_Mutation_p.R881L|MYO7A_uc010rsm.1_Missense_Mutation_p.R870L|MYO7A_uc001oyc.2_Missense_Mutation_p.R881L|MYO7A_uc001oyd.3_Missense_Mutation_p.R221L|MYO7A_uc009yus.1_Non-coding_Transcript|MYO7A_uc009yut.1_Missense_Mutation_p.R92L	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	881					actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	ATP binding|actin binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GAGAAGCTTCGGAAGGAGATG	0.592000													4	41					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	Missense_Mutation	SNP	A	A	G	rs2257765		TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr10:38654432A>G	uc010qex.1	+	4	599	c.524A>G	c.(523-525)aAt>aGt	p.N175S	HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S					Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA.																		TCATCTCGCAATGCAAGGAAA	0.453000													7	68					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9087660	9087660	+	Silent	SNP	G	G	A			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr19:9087660G>A	uc002mkp.3	-	0	4359	c.4155C>T	c.(4153-4155)acC>acT	p.T1385T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1385	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.W1384C(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTCTGTGATGGTCCATGCTT	0.473000													15	128					0	0	1	0	0
OR6C2	341416	broad.mit.edu	37	12	55846662	55846662	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr12:55846662C>A	uc001sgz.1	+	0	665	c.665C>A	c.(664-666)aCa>aAa	p.T222K		NM_054105	NP_473446	Q9NZP2	OR6C2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 2 (OR6C2), mRNA.	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						ATAGTCAGAACAATTCTGAAG	0.403000													14	145					0	0	1	0	0
MYO9B	4650	broad.mit.edu	37	19	17265124	17265124	+	Splice_Site	SNP	G	G	A			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr19:17265124G>A	uc010eak.3	+	6	1251	c.1099_splice	c.e6-1	p.H367_splice	MYO9B_uc002nfi.3_Splice_Site_p.H367_splice|MYO9B_uc002nfj.1_Splice_Site_p.H367_splice	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA.	367	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	ADP binding|ATP binding|ATPase activity|Rho GTPase activator activity|actin binding|calmodulin binding|metal ion binding|microfilament motor activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						TTGTTTTCCAGCATAACTTGA	0.587000													3	57					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178952050	178952050	+	Silent	SNP	T	T	G			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr3:178952050T>G	uc003fjk.3	+	20	3262	c.3105T>G	c.(3103-3105)gcT>gcG	p.A1035A		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	1035	PI3K/PI4K.		A -> V (in cancer).		T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.A1035V(3)|p.A1035T(2)|p.E1034G(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AGCAAGAGGCTTTGGAGTATT	0.393000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			4	40					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55542773	55542773	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr8:55542773G>A	uc003xsd.1	+	3	6479	c.6331G>A	c.(6331-6333)Gtt>Att	p.V2111I	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	2111					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.V2111I(2)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TATTTGCCAAGTTGAGACCTC	0.333000													10	56					0	0	1	0	0
ITGAX	3687	broad.mit.edu	37	16	31388553	31388553	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr16:31388553C>A	uc002ebt.3	+	22	2823	c.2756C>A	c.(2755-2757)cCg>cAg	p.P919Q	ITGAX_uc002ebu.1_Missense_Mutation_p.P919Q	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	919					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	p.P919L(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CTGGAGCTCCCGGTGAAGTAT	0.502000													4	89					0	0	1	0	0
C2orf40	84417	broad.mit.edu	37	2	106694327	106694327	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr2:106694327C>A	uc010fjf.3	+	3	500	c.392C>A	c.(391-393)cCc>cAc	p.P131H		NM_032411	NP_115787	Q9H1Z8	AUGN_HUMAN	Homo sapiens chromosome 2 open reading frame 40 (C2orf40), mRNA.	131						extracellular region|transport vesicle				lung(7)|urinary_tract(1)	8						GCAATTGGTCCCCGGAGCCCC	0.468000													4	53					0	0	1	0	0
KCNV1	27012	broad.mit.edu	37	8	110980695	110980695	+	Silent	SNP	G	G	T			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr8:110980695G>T	uc003ynr.4	-	2	1929	c.1125C>A	c.(1123-1125)acC>acA	p.T375T	KCNV1_uc010mcw.3_Silent_p.T375T	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	Homo sapiens potassium channel, subfamily V, member 1 (KCNV1), mRNA.	375						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CACTTGTGAAGGTTGTGTCAG	0.478000													5	91					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181767565	181767565	+	Silent	SNP	G	G	T			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr1:181767565G>T	uc009wxt.3	+	47	6732	c.6537G>T	c.(6535-6537)gcG>gcT	p.A2179A	CACNA1E_uc001gow.3_Silent_p.A2136A|CACNA1E_uc009wxs.3_Silent_p.A2117A	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	2179					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.A2136A(1)|p.A2179A(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TTCGACACGCGGGCAGCATCT	0.622000													6	96					0	0	1	0	0
C16orf48	84080	broad.mit.edu	37	16	67700164	67700164	+	Silent	SNP	T	T	C			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr16:67700164T>C	uc002etw.1	-	1	373	c.90A>G	c.(88-90)caA>caG	p.Q30Q	C16orf48_uc002etv.1_5'Flank|C16orf86_uc002etx.1_5'Flank|C16orf86_uc002ety.3_5'Flank|C16orf86_uc002etz.3_5'Flank	NM_032140	NP_115516	Q9H0I2	CP048_HUMAN	Homo sapiens chromosome 16 open reading frame 48 (C16orf48), mRNA.	30						microtubule cytoskeleton	protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	10		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CGAGGCGCCCTTGAGCTGTGG	0.731000													7	30					0	0	1	0	0
EIF4G1	1981	broad.mit.edu	37	3	184034001	184034001	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr3:184034001C>A	uc003fnp.3	+	3	413	c.142C>A	c.(142-144)Cgc>Agc	p.R48S	EIF4G1_uc003fno.2_Missense_Mutation_p.R48S|EIF4G1_uc010hxw.2_5'UTR|EIF4G1_uc010hxx.3_Missense_Mutation_p.R48S|EIF4G1_uc003fnt.3_Intron|EIF4G1_uc010hxy.3_Missense_Mutation_p.R48S|EIF4G1_uc003fnq.3_Intron|EIF4G1_uc003fnr.3_Intron|EIF4G1_uc003fns.3_Missense_Mutation_p.R8S|EIF4G1_uc010hxz.2_Intron|EIF4G1_uc003fnv.4_Missense_Mutation_p.R48S|EIF4G1_uc003fnw.3_Missense_Mutation_p.R48S	NM_198241	NP_937885	Q04637	IF4G1_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 1 (EIF4G1), transcript variant 2, mRNA.	48					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TTCTCAGCCCCGCCAGGTGAG	0.617000													4	39					0	0	1	0	0
B4GALT5	9334	broad.mit.edu	37	20	48257202	48257202	+	Splice_Site	SNP	C	C	A			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr20:48257202C>A	uc002xuu.4	-	6	801	c.607_splice	c.e6-1	p.V203_splice		NM_004776	NP_004767	O43286	B4GT5_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5 (B4GALT5), mRNA.	203					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	galactosyltransferase activity|metal ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			TGGGTACCAACCTAAAAGAAA	0.373000													3	16					0	0	1	0	0
POLR3A	11128	broad.mit.edu	37	10	79781714	79781714	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr10:79781714C>T	uc001jzn.3	-	6	1085	c.952G>A	c.(952-954)Gcc>Acc	p.A318T		NM_007055	NP_008986	O14802	RPC1_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide A, 155kDa (POLR3A), mRNA.	318					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			ATGTAGAGGGCACACTGCAGC	0.532000													7	53					0	0	1	0	0
TGM1	7051	broad.mit.edu	37	14	24727853	24727853	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr14:24727853G>T	uc001wod.3	-	7	1310	c.1186C>A	c.(1186-1188)Cgt>Agt	p.R396S	TGM1_uc010tog.2_Intron|TGM1_uc021rrn.1_Non-coding_Transcript	NM_000359	NP_000350	P22735	TGM1_HUMAN	Homo sapiens transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) (TGM1), mRNA.	396			R -> H (in ARCI-TGM1).|R -> L (in NCIE).|R -> S (in ARCI-TGM1).		cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	GTGACAGTACGGGTGGCCAGA	0.582000													4	67					0	0	1	0	0
APBB3	10307	broad.mit.edu	37	5	139940031	139940031	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr5:139940031A>C	uc021yeh.1	-	11	1450	c.1091T>G	c.(1090-1092)tTt>tGt	p.F364C	SRA1_uc003lfz.3_5'Flank|SRA1_uc021yef.1_5'Flank|SRA1_uc003lga.3_5'Flank|SRA1_uc010jfm.3_5'Flank|APBB3_uc003lgb.1_Missense_Mutation_p.F141C|APBB3_uc003lgc.1_Missense_Mutation_p.F141C|APBB3_uc003lgd.1_Missense_Mutation_p.F369C|APBB3_uc010jfp.1_Non-coding_Transcript|APBB3_uc011czi.1_Missense_Mutation_p.F141C|APBB3_uc003lge.1_Missense_Mutation_p.F362C|APBB3_uc021yeg.1_Missense_Mutation_p.F371C|APBB3_uc003lgf.1_Non-coding_Transcript|APBB3_uc010jfq.1_Missense_Mutation_p.I102M	NM_133173	NP_573419	O95704	APBB3_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 3 (APBB3), transcript variant 2, mRNA.	364	PID 2.					actin cytoskeleton|cytoplasm				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACACCAATAAATGTCACAAG	0.632000													4	41					0	0	1	0	0
ETFDH	2110	broad.mit.edu	37	4	159601637	159601637	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr4:159601637C>T	uc003iqb.3	+	1	385	c.53C>T	c.(52-54)gCc>gTc	p.A18V	ETFDH_uc011cjg.2_Intron|ETFDH_uc010iqr.3_Intron|ETFDH_uc011cjh.2_5'Flank|ETFDH_uc010iqs.3_5'Flank	NM_004453	NP_004444	Q16134	ETFD_HUMAN	Homo sapiens electron-transferring-flavoprotein dehydrogenase (ETFDH), nuclear gene encoding mitochondrial protein, mRNA.	18					fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		TGCTTTCATGCCTTAAAAATT	0.318000													5	33					0	0	1	0	0
TRIM14	9830	broad.mit.edu	37	9	100857265	100857265	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr9:100857265C>A	uc004ayd.2	-	3	602	c.584G>T	c.(583-585)gGg>gTg	p.G195V	TRIM14_uc011luz.1_5'Flank|TRIM14_uc011lva.1_5'Flank|TRIM14_uc004ayg.1_Missense_Mutation_p.G195V|TRIM14_uc004ayh.1_Missense_Mutation_p.G195V	NM_033220	NP_150089	Q14142	TRI14_HUMAN	Homo sapiens tripartite motif containing 14 (TRIM14), transcript variant 3, mRNA.	195						cytoplasm|intracellular	zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(62;0.0559)				GCACAGCTCCCCGAGGCTCAT	0.617000													5	91					0	0	1	0	0
CCDC144C	348254	broad.mit.edu	37	17	20224745	20224745	+	RNA	SNP	G	G	A			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr17:20224745G>A	uc010cqy.1	+	0		c.259G>A								Homo sapiens coiled-coil domain containing 144C (CCDC144C), non-coding RNA.											breast(2)|endometrium(1)|kidney(4)|lung(4)|prostate(1)|urinary_tract(1)	13						TGGTACTTGGGCTACCCGGGG	0.647000													5	74					0	0	1	0	0
CES5A	221223	broad.mit.edu	37	16	55886880	55886880	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr16:55886880G>T	uc021tir.1	-	10	1419	c.1273C>A	c.(1273-1275)Ctg>Atg	p.L425M	CES5A_uc002eip.2_Missense_Mutation_p.L396M|CES5A_uc002eio.2_Missense_Mutation_p.L396M|CES5A_uc002eiq.2_Missense_Mutation_p.L157M|CES5A_uc002eir.2_Missense_Mutation_p.L290M	NM_001190158	NP_001177087	Q6NT32	EST5A_HUMAN	Homo sapiens carboxylesterase 5A (CES5A), transcript variant 3, mRNA.	396						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						ATTTCAGTCAGGGAGTGCTTG	0.473000													5	96					0	0	1	0	0
CHI3L1	1116	broad.mit.edu	37	1	203152888	203152888	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr1:203152888G>A	uc001gzi.2	-	4	517	c.346C>T	c.(346-348)Cgc>Tgc	p.R116C	CHI3L1_uc001gzk.1_5'Flank|CHI3L1_uc001gzj.2_Missense_Mutation_p.R116C	NM_001276	NP_001267	P36222	CH3L1_HUMAN	Homo sapiens chitinase 3-like 1 (cartilage glycoprotein-39) (CHI3L1), mRNA.	116					chitin catabolic process	extracellular space|proteinaceous extracellular matrix	cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						AAAGTCCGGCGACTCTGGGTG	0.552000													5	91					0	0	1	0	0
TOPORS	10210	broad.mit.edu	37	9	32544153	32544154	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr9:32544153_32544154delAG	uc003zrb.3	-	2	561_562	c.369_370delCT	c.(367-372)ttctgtfs	p.F123fs	TOPORS_uc003zrc.3_Frame_Shift_Del_p.F58fs	NM_005802	NP_001182551	Q9NS56	TOPRS_HUMAN	Homo sapiens topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase (TOPORS), transcript variant 1, mRNA.	123	E3 ubiquitin-protein ligase activity.|Required for DNA-binding.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	PML body|nuclear speck	DNA binding|DNA topoisomerase I binding|SUMO ligase activity|antigen binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		CAGCGAAAACAGAACTTATGTA	0.401													20	115	---	---	---	---					
POLI	11201	broad.mit.edu	37	18	51795958	51795960	+	In_Frame_Del	DEL	CGA	-	-	rs140689079		TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr18:51795958_51795960delCGA	uc002lfj.4	+	0	110_112	c.42_44delCGA	c.(40-45)ggcgac>ggc	p.D17del	POLI_uc010xds.2_In_Frame_Del_p.D17del|POLI_uc002lfk.4_5'UTR|POLI_uc002lfl.1_5'Flank	NM_007195	NP_009126	Q9UNA4	POLI_HUMAN	Homo sapiens polymerase (DNA directed) iota (POLI), mRNA.	17					DNA repair|DNA replication	nucleoplasm	DNA-directed DNA polymerase activity|damaged DNA binding|metal ion binding|protein binding	p.D17delD(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		AAGGCGGCGGCGACGACGACGAG	0.729								DNA polymerases (catalytic subunits)					5	4	---	---	---	---					
