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
TTN	7273	broad.mit.edu	37	2	179404673	179404673	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr2:179404673C>G	ENST00000589042.1	-	352	98343	c.98119G>C	c.(98119-98121)Gat>Cat	p.D32707H	TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D23834H|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D31066H|TTN_ENST00000359218.5_Missense_Mutation_p.D23767H|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D30139H|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D23642H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31066	Ig-like 144.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATCTTTCATCAAGTTCATAA	0.373000													4	70					0	0	0.009096	0	0
ADAM2	2515	broad.mit.edu	37	8	39678606	39678606	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr8:39678606A>C	ENST00000265708.4	-	6	531	c.428T>G	c.(427-429)gTa>gGa	p.V143G	ADAM2_ENST00000379853.2_Missense_Mutation_p.V143G|ADAM2_ENST00000347580.4_Missense_Mutation_p.V143G|ADAM2_ENST00000523181.1_5'UTR|ADAM2_ENST00000521880.1_Missense_Mutation_p.V143G	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	143					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CTTATGTTTTACTTGGTAAAT	0.328000													8	42					0	0	0.003080	0	0
CDKN1B	1027	broad.mit.edu	37	12	12871015	12871015	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr12:12871015A>G	ENST00000228872.4	+	1	958	c.242A>G	c.(241-243)aAg>aGg	p.K81R	CDKN1B_ENST00000396340.1_Missense_Mutation_p.K81R|CDKN1B_ENST00000477087.1_Intron	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	81					autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		GAGGTGGAGAAGGGCAGCTTG	0.612000													9	86					0	0	0.006214	0	0
GALNT12	79695	broad.mit.edu	37	9	101599413	101599413	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr9:101599413A>C	ENST00000375011.3	+	6	1195	c.1195A>C	c.(1195-1197)Aac>Cac	p.N399H		NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)	399						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				CTACCATCGCAACCCCCGTGC	0.547000													7	114					0	0	0.001984	0	0
CD2AP	23607	broad.mit.edu	37	6	47563699	47563699	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr6:47563699C>T	ENST00000359314.5	+	12	1667	c.1211C>T	c.(1210-1212)tCt>tTt	p.S404F		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	404	Pro-rich.				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			TTACTGAGATCTTCTGGAACA	0.418000													19	156					0	0	0.010504	0	0
PABPC5	140886	broad.mit.edu	37	X	90691201	90691201	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chrX:90691201G>A	ENST00000312600.3	+	2	839	c.625G>A	c.(625-627)Gac>Aac	p.D209N	PABPC5_ENST00000373105.1_Missense_Mutation_p.D45N	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	209	RRM 3.					cytoplasm	nucleotide binding|RNA binding			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						CATTGGAGACGACATAGATGA	0.428000													5	21					0	0	0.000602	0	0
SCFD1	23256	broad.mit.edu	37	14	31122764	31122764	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr14:31122764G>A	ENST00000458591.2	+	10	1052	c.825G>A	c.(823-825)tgG>tgA	p.W275*	SCFD1_ENST00000544052.2_Nonsense_Mutation_p.W208*|SCFD1_ENST00000396629.2_Nonsense_Mutation_p.W183*|SCFD1_ENST00000541123.1_Nonsense_Mutation_p.W90*|SCFD1_ENST00000421551.3_Nonsense_Mutation_p.W216*	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	275					post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		ATCATACTTGGACATATCAAG	0.328000													5	91					0	0	0.001984	0	0
HERPUD1	9709	broad.mit.edu	37	16	56973962	56973962	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr16:56973962A>T	ENST00000439977.2	+	6	907	c.710A>T	c.(709-711)aAt>aTt	p.N237I	HERPUD1_ENST00000344114.4_Intron|HERPUD1_ENST00000300302.5_Missense_Mutation_p.N236I|HERPUD1_ENST00000379792.2_Missense_Mutation_p.N212I|HERPUD1_ENST00000570273.1_3'UTR	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1	237						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						GTGGTTGTTAATCCTGGAGCC	0.463000			T	ERG	prostate								4	29					0	0	0.009096	0	0
RRM2B	50484	broad.mit.edu	37	8	103237159	103237159	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr8:103237159T>A	ENST00000251810.3	-	4	652	c.409A>T	c.(409-411)Atg>Ttg	p.M137L	RRM2B_ENST00000519962.1_Intron|RRM2B_ENST00000519317.1_Intron|RRM2B_ENST00000395912.2_Missense_Mutation_p.M85L	NM_001172478.1|NM_015713.4	NP_001165949.1|NP_056528.2	Q7LG56	RIR2B_HUMAN	ribonucleotide reductase M2 B (TP53 inducible)	137					deoxyribonucleoside diphosphate metabolic process|DNA repair|nucleobase, nucleoside and nucleotide interconversion	nucleoplasm	ribonucleoside-diphosphate reductase activity|transition metal ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	9	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000728)			AAACTGTACATCTCTGAGTGA	0.408000								Modulation of nucleotide pools					8	38					0	0	0.003080	0	0
IDE	3416	broad.mit.edu	37	10	94268582	94268582	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr10:94268582G>C	ENST00000265986.6	-	7	1019	c.963C>G	c.(961-963)gaC>gaG	p.D321E		NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	321					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATTTCTGAAGGTCAGGTATGG	0.363000													11	112					0	0	0.001855	0	0
MFSD6	54842	broad.mit.edu	37	2	191301018	191301018	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr2:191301018T>C	ENST00000392328.1	+	3	587	c.263T>C	c.(262-264)cTt>cCt	p.L88P	MFSD6_ENST00000281416.7_Missense_Mutation_p.L88P	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	88					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						CTCTATCCCCTTTTGCCTGTG	0.403000													3	131					0	0	0.004672	0	0
FCN3	8547	broad.mit.edu	37	1	27697413	27697413	+	Silent	SNP	G	G	A			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr1:27697413G>A	ENST00000270879.4	-	6	449	c.444C>T	c.(442-444)tcC>tcT	p.S148S	FCN3_ENST00000354982.2_Silent_p.S137S	NM_003665.2	NP_003656.2	O75636	FCN3_HUMAN	ficolin (collagen/fibrinogen domain containing) 3	148	Fibrinogen C-terminal.				complement activation, lectin pathway|signal transduction	collagen|extracellular space	receptor binding|sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CTCTGTAGGAGGACCAAGAGC	0.562000													11	64					0	0	0.008291	0	0
CDK2AP2	10263	broad.mit.edu	37	11	67274859	67274859	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr11:67274859C>T	ENST00000301488.3	-	3	838	c.290G>A	c.(289-291)aGc>aAc	p.S97N	CDK2AP2_ENST00000531506.1_Missense_Mutation_p.S97N	NM_005851.3	NP_005842.1	O75956	CDKA2_HUMAN	cyclin-dependent kinase 2 associated protein 2	97										lung(1)	1						CTCCATGGCGCTCTTGCTGCC	0.607000													12	92					0	0	0.001855	0	0
FNDC3B	64778	broad.mit.edu	37	3	172062028	172062028	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr3:172062028A>G	ENST00000336824.4	+	19	2329	c.2230A>G	c.(2230-2232)Agg>Ggg	p.R744G	FNDC3B_ENST00000415807.2_Missense_Mutation_p.R744G|FNDC3B_ENST00000416957.1_Missense_Mutation_p.R744G	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	744	Fibronectin type-III 5.					endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		CTTCCGGGTGAGGGCTCTGAA	0.547000													3	131					0	0	0.004672	0	0
SLC2A9	56606	broad.mit.edu	37	4	9998412	9998412	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr4:9998412G>T	ENST00000506583.1	-	5	533	c.316C>A	c.(316-318)Ctt>Att	p.L106I	SLC2A9_ENST00000264784.3_Missense_Mutation_p.L135I|SLC2A9_ENST00000309065.3_Missense_Mutation_p.L106I			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	135					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						GACCTCCCAAGAACCTTTCCA	0.498000													6	23					3.59834e-05	4.15193e-05	0.001168	1	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													3	48					0	0	0.004672	0	0
ZW10	9183	broad.mit.edu	37	11	113609058	113609058	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr11:113609058T>A	ENST00000200135.3	-	13	1956	c.1812A>T	c.(1810-1812)ttA>ttT	p.L604F		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	604					cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		TAGCACTTGATAATCTTTCCA	0.403000													11	49					0	0	0.001855	0	0
PLD3	23646	broad.mit.edu	37	19	40872532	40872532	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr19:40872532G>T	ENST00000409587.1	+	4	440	c.43G>T	c.(43-45)Gag>Tag	p.E15*	PLD3_ENST00000356508.5_Nonsense_Mutation_p.E15*|PLD3_ENST00000409419.1_Nonsense_Mutation_p.E15*|PLD3_ENST00000409735.4_Nonsense_Mutation_p.E15*|PLD3_ENST00000409281.1_Nonsense_Mutation_p.E15*			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	15					lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			GGTGCCTGCAGAGGAGCCCGC	0.632000													5	81					2.0095e-06	2.34876e-06	0.001984	1	0
ZNF276	92822	broad.mit.edu	37	16	89789965	89789965	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr16:89789965C>T	ENST00000289816.5	+	4	941	c.629C>T	c.(628-630)aCc>aTc	p.T210I	ZNF276_ENST00000568064.1_Missense_Mutation_p.P204S|ZNF276_ENST00000446326.2_Missense_Mutation_p.P82S|ZNF276_ENST00000443381.2_Missense_Mutation_p.T285I	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN	zinc finger protein 276	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		GCCCCTCAGACCTCCCAGGGT	0.677000													5	48					0	0	0.000602	0	0
XIRP2	129446	broad.mit.edu	37	2	167760367	167760367	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr2:167760367G>C	ENST00000409195.1	+	2	464	c.375G>C	c.(373-375)aaG>aaC	p.K125N	XIRP2_ENST00000295237.9_Missense_Mutation_p.K125N|XIRP2_ENST00000420519.1_Missense_Mutation_p.K125N|XIRP2_ENST00000409728.1_Missense_Mutation_p.K125N|XIRP2_ENST00000409756.2_Missense_Mutation_p.K125N|XIRP2_ENST00000409043.1_Missense_Mutation_p.K125N	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGGCTCCTAAGAGTGGAAACA	0.483000													6	51					0	0	0.001168	0	0
PMVK	10654	broad.mit.edu	37	1	154897619	154897619	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr1:154897619G>A	ENST00000368467.3	-	5	870	c.565C>T	c.(565-567)Cgc>Tgc	p.R189C		NM_006556.3	NP_006547.1	Q15126	PMVK_HUMAN	phosphomevalonate kinase	189					cholesterol biosynthetic process|protein phosphorylation	cytosol|peroxisome	ATP binding|phosphomevalonate kinase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AGTCTGGAGCGGATAAATTCT	0.567000													4	172					0	0	0.009096	0	0
NPIPA5	100288332	broad.mit.edu	37	16	15457701	15457701	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr16:15457701G>A	ENST00000360151.4	-	8	867	c.868C>T	c.(868-870)Ctc>Ttc	p.L290F		NM_001277325.1	NP_001264254.1			nuclear pore complex interacting protein family, member A5									p.L290F(2)									AGGGGAGTGAGCAGACACTCG	0.562000													4	79					0	0	0.009096	0	0
IFLTD1	160492	broad.mit.edu	37	12	25671777	25671777	+	Silent	SNP	A	A	G			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr12:25671777A>G	ENST00000539744.1	-	8	1266	c.787T>C	c.(787-789)Ttg>Ctg	p.L263L	IFLTD1_ENST00000413632.2_Silent_p.L341L|IFLTD1_ENST00000458174.2_Silent_p.L381L|IFLTD1_ENST00000445693.1_Silent_p.L297L|IFLTD1_ENST00000282881.6_Silent_p.L360L	NM_001256266.1	NP_001243195.1	Q8N9Z9	ILFT1_HUMAN	intermediate filament tail domain containing 1	360						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					TGTCTATCCAATCTGCCTCCA	0.517000											OREG0031252	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	6	73					0	0	0.001168	0	0
ZFHX4	79776	broad.mit.edu	37	8	77765833	77765833	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr8:77765833A>G	ENST00000521891.2	+	10	7124	c.6676A>G	c.(6676-6678)Aaa>Gaa	p.K2226E	ZFHX4_ENST00000050961.6_Missense_Mutation_p.K2181E|ZFHX4_ENST00000518282.1_Missense_Mutation_p.K2200E|ZFHX4_ENST00000455469.2_Missense_Mutation_p.K2181E	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2181						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATCATTCAGTAAAAGGTCTTC	0.373000										HNSCC(33;0.089)			7	51					0	0	0.001984	0	0
PCDHA7	56141	broad.mit.edu	37	5	140215046	140215046	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr5:140215046C>A	ENST00000525929.1	+	1	1078	c.1078C>A	c.(1078-1080)Cca>Aca	p.P360T	PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.P360T	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTCCCTATTCCAGAGGACGC	0.522000													11	96					2.80697e-09	3.36837e-09	0.010729	1	0
DAK	26007	broad.mit.edu	37	11	61105464	61105464	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr11:61105464G>A	ENST00000394900.3	+	3	284	c.55G>A	c.(55-57)Gct>Act	p.A19T	DAK_ENST00000530057.1_3'UTR	NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	19	DhaK.			A -> S (in Ref. 3; BAD97300).	glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						TGACGCTCTTGCTGGCCTGGT	0.622000													17	95					0	0	0.004990	0	0
TNS4	84951	broad.mit.edu	37	17	38634851	38634851	+	Missense_Mutation	SNP	T	T	A	rs147778475		TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr17:38634851T>A	ENST00000254051.6	-	11	2118	c.1960A>T	c.(1960-1962)Atg>Ttg	p.M654L		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	654	Phosphatase tensin-type.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			TCAGGGTCCATACCACAGAAG	0.617000													8	59					0	0	0.006214	0	0
GIGYF2	26058	broad.mit.edu	37	2	233671317	233671317	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr2:233671317A>T	ENST00000373566.3	+	16	2019	c.1822A>T	c.(1822-1824)Atg>Ttg	p.M608L	GIGYF2_ENST00000373563.4_Missense_Mutation_p.M586L|GIGYF2_ENST00000409480.1_Missense_Mutation_p.M608L|GIGYF2_ENST00000409547.1_Missense_Mutation_p.M586L|GIGYF2_ENST00000452341.2_Missense_Mutation_p.M417L|GIGYF2_ENST00000409451.3_Missense_Mutation_p.M607L|GIGYF2_ENST00000409196.3_Missense_Mutation_p.M580L			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	586	Gln-rich.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TATCATGAAAATGTGGGGAAG	0.463000													10	106					0	0	0.008291	0	0
POP5	51367	broad.mit.edu	37	12	121017178	121017178	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr12:121017178G>T	ENST00000341039.2	-	4	301	c.285C>A	c.(283-285)agC>agA	p.S95R	POP5_ENST00000542776.1_5'UTR|POP5_ENST00000357500.4_Missense_Mutation_p.S145R	NM_198202.1	NP_937845.1	Q969H6	POP5_HUMAN	processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae)	145					tRNA processing		protein binding|ribonuclease P activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	all_neural(191;0.077)|Medulloblastoma(191;0.0922)					CTAATAAGCAGCTTCTTGTCA	0.512000													9	83					0.00448238	0.00480255	0.004482	1	0
HSD17B3	3293	broad.mit.edu	37	9	98997827	98997827	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr9:98997827G>T	ENST00000375263.3	-	11	895	c.848C>A	c.(847-849)gCc>gAc	p.A283D	HSD17B3_ENST00000464104.1_5'UTR|HSD17B3_ENST00000375262.2_Missense_Mutation_p.A233D	NM_000197.1	NP_000188.1	P37058	DHB3_HUMAN	hydroxysteroid (17-beta) dehydrogenase 3	283					androgen biosynthetic process|male genitalia development	endoplasmic reticulum membrane|microsome	binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)			NADH(DB00157)	GAAGGCCCAGGCCGGGATCAG	0.527000													6	17					8.12818e-05	9.14421e-05	0.001984	1	0
C1orf94	84970	broad.mit.edu	37	1	34666421	34666421	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr1:34666421T>C	ENST00000488417.1	+	3	1178	c.1058T>C	c.(1057-1059)tTt>tCt	p.F353S	C1orf94_ENST00000373374.3_Missense_Mutation_p.F163S	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	163							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)				GGGAGCCTCTTTCTCAGCCAG	0.582000													7	61					0	0	0.004482	0	0
CCNB1IP1	57820	broad.mit.edu	37	14	20779905	20779905	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr14:20779905T>C	ENST00000398169.3	-	7	1254	c.638A>G	c.(637-639)aAc>aGc	p.N213S	CCNB1IP1_ENST00000437553.2_Missense_Mutation_p.N213S|CCNB1IP1_ENST00000398160.2_Missense_Mutation_p.N213S|CCNB1IP1_ENST00000398163.2_Missense_Mutation_p.N213S|CCNB1IP1_ENST00000353689.4_Missense_Mutation_p.N213S|CCNB1IP1_ENST00000358932.4_Missense_Mutation_p.N213S			Q9NPC3	CIP1_HUMAN	cyclin B1 interacting protein 1, E3 ubiquitin protein ligase	213						chromosome|nucleus	ligase activity|metal ion binding|protein binding		HMGA2/CCNB1IP1(2)	breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)		AAACTTGGAGTTGTTACCTAG	0.348000			T	HMGA2	leiomyoma								8	51					0	0	0.003080	0	0
AKAP12	9590	broad.mit.edu	37	6	151671792	151671792	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr6:151671792G>A	ENST00000402676.2	+	4	2506	c.2266G>A	c.(2266-2268)Gtt>Att	p.V756I	AKAP12_ENST00000253332.1_Missense_Mutation_p.V756I|AKAP12_ENST00000354675.6_Missense_Mutation_p.V658I|AKAP12_ENST00000359755.5_Missense_Mutation_p.V651I	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	756	AKAP 2.				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AGGGGAGGGCGTTTCCACCTG	0.537000													13	174					0	0	0.002450	0	0
OAS1	4938	broad.mit.edu	37	12	113348885	113348885	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr12:113348885C>T	ENST00000452357.2	+	3	689	c.499C>T	c.(499-501)Ccc>Tcc	p.P167S	RP1-71H24.1_ENST00000552784.1_RNA|OAS1_ENST00000551241.1_Missense_Mutation_p.P167S|OAS1_ENST00000445409.2_Missense_Mutation_p.P167S|OAS1_ENST00000202917.5_Missense_Mutation_p.P167S	NM_002534.2	NP_002525.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	167					interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						TAAACCTAACCCCCAAATCTA	0.498000													3	30					0	0	0.004672	0	0
CPA5	93979	broad.mit.edu	37	7	129986247	129986247	+	Splice_Site	SNP	G	G	A			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr7:129986247G>A	ENST00000485477.1	+	2	1050		c.e2-1		CPA5_ENST00000466363.2_Splice_Site|CPA5_ENST00000355388.3_Splice_Site|CPA5_ENST00000461828.1_5'UTR|CPA5_ENST00000474905.1_5'UTR|CPA5_ENST00000431780.2_5'UTR			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5						proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					GGGCTTTCCAGCCTCTAGGTG	0.637000													4	28					0	0	0.001168	0	0
DOCK4	9732	broad.mit.edu	37	7	111368576	111368576	+	Silent	SNP	C	C	T			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr7:111368576C>T	ENST00000428084.1	-	53	5954	c.5682G>A	c.(5680-5682)ccG>ccA	p.P1894P	DOCK4_ENST00000437633.1_Silent_p.P1885P|DOCK4_ENST00000494651.2_Silent_p.P768P			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1885	Pro-rich.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CGCCGTAGCTCGGCACGGGCA	0.662000													6	51					0	0	0.001984	0	0
CCKBR	887	broad.mit.edu	37	11	6290927	6290927	+	Silent	SNP	T	T	G			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr11:6290927T>G	ENST00000525462.1	+	2	183	c.180T>G	c.(178-180)ctT>ctG	p.L60L	CCKBR_ENST00000532715.1_Intron|CCKBR_ENST00000531712.1_3'UTR|CCKBR_ENST00000525014.1_Silent_p.L60L|CCKBR_ENST00000334619.2_Silent_p.L60L			P32239	GASR_HUMAN	cholecystokinin B receptor	60					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	GAATCACTCTTTACGCAGTGA	0.532000													7	71					0	0	0.003080	0	0
OR4K15	81127	broad.mit.edu	37	14	20443692	20443692	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr14:20443692A>C	ENST00000305051.5	+	1	90	c.15A>C	c.(13-15)ttA>ttC	p.L5F		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	5					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCACTTCATTAACTGATCTCT	0.363000													3	57					0	0	0.004672	0	0
MAGEE1	57692	broad.mit.edu	37	X	75648934	75648934	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chrX:75648934C>T	ENST00000361470.2	+	1	889	c.611C>T	c.(610-612)cCt>cTt	p.P204L		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	204	Pro-rich.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CTGCCTACACCTGGTGAGGGA	0.687000													4	13					0	0	0.009096	0	0
PRKDC	5591	broad.mit.edu	37	8	48744440	48744440	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr8:48744440T>C	ENST00000314191.2	-	61	8253	c.8197A>G	c.(8197-8199)Agg>Ggg	p.R2733G	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.R2733G	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2734	KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TCCTGGTCCCTCATAAACCGT	0.542000								Non-homologous end-joining					3	207					0	0	0.000602	0	0
EPHX2	2053	broad.mit.edu	37	8	27373874	27373874	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr8:27373874C>A	ENST00000521400.1	+	8	1299	c.869C>A	c.(868-870)gCt>gAt	p.A290D	EPHX2_ENST00000521780.1_Missense_Mutation_p.A224D|EPHX2_ENST00000518379.1_Missense_Mutation_p.A258D|EPHX2_ENST00000517536.1_Missense_Mutation_p.A107D|EPHX2_ENST00000380476.3_Missense_Mutation_p.A237D	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	290	Epoxide hydrolase.				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	Tamoxifen(DB00675)	CGGGTCCTAGCTATGGACATG	0.557000											OREG0018668	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	193					1.96895e-08	2.33165e-08	0.002780	1	0
ETNPPL	64850	broad.mit.edu	37	4	109667916	109667916	+	Splice_Site	SNP	A	A	C			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr4:109667916A>C	ENST00000296486.3	-	10	1327		c.e10+1		ETNPPL_ENST00000411864.2_Splice_Site|ETNPPL_ENST00000510706.1_Splice_Site|ETNPPL_ENST00000512646.1_Splice_Site	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2			ethanolamine-phosphate phospho-lyase																		GGGGTGAATTACTTGTAGATG	0.488000													19	223					0	0	0.007413	0	0
CSNK2A1	1457	broad.mit.edu	37	20	470519	470519	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr20:470519C>T	ENST00000217244.3	-	10	1003	c.628G>A	c.(628-630)Gat>Aat	p.D210N	CSNK2A1_ENST00000400217.1_Missense_Mutation_p.D74N|CSNK2A1_ENST00000400227.3_Missense_Mutation_p.D210N|CSNK2A1_ENST00000349736.5_Missense_Mutation_p.D210N|CSNK2A1_ENST00000460062.1_5'UTR	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	210	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			AAACTATAATCGTACATCTGC	0.318000													3	47					0	0	0.004672	0	0
XRCC2	7516	broad.mit.edu	37	7	152346254	152346254	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr7:152346254C>A	ENST00000359321.1	-	3	401	c.316G>T	c.(316-318)Gaa>Taa	p.E106*	XRCC2_ENST00000495707.1_5'UTR	NM_005431.1	NP_005422.1	O43543	XRCC2_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 2	106					meiosis	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity			NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)		TTGATTATTTCTTCAGAGCTT	0.378000								Homologous recombination					10	78					3.86212e-05	4.39988e-05	0.008291	1	0
PITPNM2	57605	broad.mit.edu	37	12	123475222	123475222	+	Silent	SNP	T	T	C			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr12:123475222T>C	ENST00000280562.5	-	17	2788	c.2583A>G	c.(2581-2583)caA>caG	p.Q861Q	PITPNM2_ENST00000542749.1_Silent_p.Q813Q|PITPNM2_ENST00000392428.1_Silent_p.Q534Q|PITPNM2_ENST00000320201.4_Silent_p.Q813Q			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	817	DDHD.				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CGCCATGCTCTTGGAAGGCTG	0.672000													3	31					0	0	0.004672	0	0
CORO1C	23603	broad.mit.edu	37	12	109051107	109051107	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr12:109051107G>C	ENST00000261401.3	-	6	895	c.723C>G	c.(721-723)agC>agG	p.S241R	CORO1C_ENST00000549772.1_Missense_Mutation_p.S247R|CORO1C_ENST00000420959.2_Missense_Mutation_p.S294R|CORO1C_ENST00000541050.1_Missense_Mutation_p.S241R|CORO1C_ENST00000549384.1_Intron|CORO1C_ENST00000421578.2_Missense_Mutation_p.S136R	NM_001105237.2|NM_001276471.1|NM_014325.2	NP_001098707.1|NP_001263400.1|NP_055140.1	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C	241					actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						GCTGCCGCTCGCTCATGCGGC	0.562000													9	60					0	0	0.010729	0	0
KIR3DL1	3811	broad.mit.edu	37	19	55341406	55341406	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr19:55341406C>T	ENST00000391728.4	+	8	1162	c.1129C>T	c.(1129-1131)Cct>Tct	p.P377S	KIR3DL1_ENST00000541392.1_Missense_Mutation_p.P360S|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.P377S|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.P360S|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.P282S	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1											breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		GGACCAAGAGCCTGCAGGGAA	0.532000													14	112					0	0	0.004990	0	0
VIL1	7429	broad.mit.edu	37	2	219299377	219299377	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr2:219299377T>G	ENST00000248444.5	+	14	1717	c.1629T>G	c.(1627-1629)aaT>aaG	p.N543K	VIL1_ENST00000392114.2_Missense_Mutation_p.N232K	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	543	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCAATTCCAATGATGTCTTTG	0.582000													14	94					0	0	0.003163	0	0
SLC26A9	115019	broad.mit.edu	37	1	205904863	205904863	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr1:205904863C>T	ENST00000367135.3	-	2	199	c.86G>A	c.(85-87)cGg>cAg	p.R29Q	RP4-681L3.2_ENST00000421166.1_RNA|SLC26A9_ENST00000367134.2_Missense_Mutation_p.R29Q|SLC26A9_ENST00000340781.4_Missense_Mutation_p.R29Q	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	29						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			TGGGTATGTCCGGTCCTTCTT	0.547000													14	90					0	0	0.002450	0	0
DMD	1756	broad.mit.edu	37	X	31947847	31947847	+	Silent	SNP	A	A	G			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chrX:31947847A>G	ENST00000357033.4	-	47	6984	c.6778T>C	c.(6778-6780)Ttg>Ctg	p.L2260L	DMD_ENST00000541735.1_5'UTR|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000378677.2_Silent_p.L2256L	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2260					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CGCAGGGGCAACTCTTCCACC	0.403000													11	29					0	0	0.008291	0	0
SULF1	23213	broad.mit.edu	37	8	70488393	70488393	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr8:70488393C>T	ENST00000260128.4	+	6	1078	c.361C>T	c.(361-363)Cat>Tat	p.H121Y	SULF1_ENST00000402687.4_Missense_Mutation_p.H121Y|SULF1_ENST00000458141.2_Missense_Mutation_p.H121Y|SULF1_ENST00000419716.3_Missense_Mutation_p.H121Y	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	121					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GCAGGCCATGCATGAGCCTCG	0.498000													11	55					0	0	0.008291	0	0
PCDHGA9	56107	broad.mit.edu	37	5	140784899	140784899	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr5:140784899T>C	ENST00000573521.1	+	1	2380	c.2380T>C	c.(2380-2382)Tct>Cct	p.S794P	PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTGTGCGTCTCTGTTGATTC	0.423000													4	35					0	0	0.000602	0	0
C5orf22	55322	broad.mit.edu	37	5	31541084	31541084	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr5:31541084A>G	ENST00000325366.9	+	5	963	c.836A>G	c.(835-837)tAc>tGc	p.Y279C	C5orf22_ENST00000355907.3_5'UTR	NM_018356.2	NP_060826.2	Q49AR2	CE022_HUMAN	chromosome 5 open reading frame 22	279										kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1)	18						CAAGAGCTGTACCAATTTAAG	0.294000													7	66					0	0	0.003080	0	0
DCLRE1A	9937	broad.mit.edu	37	10	115601164	115601164	+	Splice_Site	SNP	C	C	G			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr10:115601164C>G	ENST00000361384.2	-	7	3738		c.e7+1		DCLRE1A_ENST00000369305.1_Splice_Site	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A						cell division|mitosis	nucleus	hydrolase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		TGAATGCTTACCTTAAAATTA	0.323000								Other identified genes with known or suspected DNA repair function					4	48					0	0	0.000602	0	0
COL17A1	1308	broad.mit.edu	37	10	105821185	105821185	+	Silent	SNP	G	G	A			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr10:105821185G>A	ENST00000353479.5	-	13	1247	c.957C>T	c.(955-957)aaC>aaT	p.N319N	COL17A1_ENST00000369733.3_Silent_p.N319N|COL17A1_ENST00000393211.3_Silent_p.N319N	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	319	Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AAACGCCAGTGTTCACAGCCG	0.577000													5	25					0	0	0.004482	0	0
GALNT13	114805	broad.mit.edu	37	2	155158099	155158099	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr2:155158099C>T	ENST00000392825.3	+	9	1720	c.1153C>T	c.(1153-1155)Cca>Tca	p.P385S	GALNT13_ENST00000409237.1_Missense_Mutation_p.P385S|GALNT13_ENST00000487047.1_3'UTR	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	385						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						CATCATATCCCCAGGTACACA	0.348000													6	99					0	0	0.001984	0	0
CLOCK	9575	broad.mit.edu	37	4	56316289	56316289	+	Silent	SNP	T	T	C			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr4:56316289T>C	ENST00000309964.4	-	15	1567	c.1317A>G	c.(1315-1317)aaA>aaG	p.K439K	CLOCK_ENST00000513440.1_Silent_p.K439K|CLOCK_ENST00000381322.1_Silent_p.K439K	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	439					circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			TGTGAGATGATTTTCTTGAAC	0.433000													5	46					0	0	0.000602	0	0
FAM65C	140876	broad.mit.edu	37	20	49204362	49204362	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr20:49204362G>T	ENST00000327979.2	-	21	3128	c.2717C>A	c.(2716-2718)gCc>gAc	p.A906D	FAM65C_ENST00000045083.2_Missense_Mutation_p.A906D|FAM65C_ENST00000535356.1_Missense_Mutation_p.A910D|FAM65C_ENST00000462842.1_5'UTR			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	906										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGTTTCCCGGGCTGCCGCCCG	0.592000											OREG0026030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	57					0.000157383	0.00017487	0.003080	1	0
FUT10	84750	broad.mit.edu	37	8	33310867	33310867	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr8:33310867G>A	ENST00000335589.3	-	3	598	c.19C>T	c.(19-21)Ccc>Tcc	p.P7S	FUT10_ENST00000518076.1_5'UTR|FUT10_ENST00000327671.5_Silent_p.Y81Y|FUT10_ENST00000524021.1_Silent_p.Y53Y|FUT10_ENST00000518672.1_Silent_p.Y53Y			Q6P4F1	FUT10_HUMAN	fucosyltransferase 10 (alpha (1,3) fucosyltransferase)	0					embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		GCATAATGGGGTAGCTGTCCA	0.478000													3	33					0	0	0.009096	0	0
CARD10	29775	broad.mit.edu	37	22	37914082	37914082	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr22:37914082T>A	ENST00000403299.1	-	3	485	c.269A>T	c.(268-270)aAg>aTg	p.K90M	CARD10_ENST00000251973.5_Missense_Mutation_p.K90M			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	90	CARD.				activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					ATAGCCCCTCTTGCCACGGCA	0.627000													6	49					0	0	0.004482	0	0
DMBT1	1755	broad.mit.edu	37	10	124389869	124389869	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr10:124389869G>A	ENST00000368909.3	+	45	5607	c.5501G>A	c.(5500-5502)aGt>aAt	p.S1834N	DMBT1_ENST00000359586.6_Missense_Mutation_p.S554N|DMBT1_ENST00000368955.3_Missense_Mutation_p.S1824N|DMBT1_ENST00000338354.3_Missense_Mutation_p.S1834N|DMBT1_ENST00000368956.2_Missense_Mutation_p.S1206N|DMBT1_ENST00000344338.3_Missense_Mutation_p.S1824N|DMBT1_ENST00000330163.4_Missense_Mutation_p.S1206N	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1834	CUB 1.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TTGAATAGCAGTCTCCTGCTG	0.368000													4	60					0	0	0.009096	0	0
TPD52L3	89882	broad.mit.edu	37	9	6328607	6328607	+	Silent	SNP	C	C	G			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr9:6328607C>G	ENST00000344545.5	+	1	259	c.12C>G	c.(10-12)gcC>gcG	p.A4A	TPD52L3_ENST00000314556.3_Silent_p.A4A|TPD52L3_ENST00000381428.1_Silent_p.A4A	NM_033516.5	NP_277051.3	Q96J77	TPD55_HUMAN	tumor protein D52-like 3	4							protein binding			large_intestine(1)|lung(9)|skin(1)	11		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)		TGCCACATGCCAGGACAGAGA	0.468000													60	94					0	0	0.014410	0	0
CXADRP3	440224	broad.mit.edu	37	18	14478208	14478208	+	RNA	SNP	C	C	G			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr18:14478208C>G	ENST00000581457.1	-	0	1700					NR_024076.1																						GGAATCATCACAGGAATCACG	0.468000													3	32					0	0	0.000602	0	0
RGS20	8601	broad.mit.edu	37	8	54764582	54764582	+	Silent	SNP	C	C	T			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr8:54764582C>T	ENST00000297313.3	+	1	215	c.123C>T	c.(121-123)atC>atT	p.I41I	RGS20_ENST00000344277.6_Silent_p.I41I	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	regulator of G-protein signaling 20	41					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|nucleus|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			TTCACCAAATCACAGAAAATG	0.458000													13	79					0	0	0.001855	0	0
WWOX	51741	broad.mit.edu	37	16	78466645	78466645	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr16:78466645C>A	ENST00000566780.1	+	8	1418	c.1052C>A	c.(1051-1053)tCc>tAc	p.S351Y	WWOX_ENST00000402655.2_Intron|WWOX_ENST00000406884.2_Intron|WWOX_ENST00000539474.2_Intron|WWOX_ENST00000408984.3_Missense_Mutation_p.S351Y	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	351	Interaction with MAPT (By similarity).				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		TTCACCAAGTCCATGGTAAGA	0.512000													16	207					4.14922e-12	5.04635e-12	0.004007	1	0
TRAC	28755	broad.mit.edu	37	14	23020699	23020699	+	RNA	SNP	A	A	T			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr14:23020699A>T	ENST00000478163.3	+	0	576																											CACCAACTGGATCCTACCCGA	0.542000													19	133					0	0	0.007413	0	0
ALPK2	115701	broad.mit.edu	37	18	56204982	56204982	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr18:56204982C>T	ENST00000361673.3	-	5	2650	c.2437G>A	c.(2437-2439)Gga>Aga	p.G813R	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	813							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						AAACACGTTCCTTGGTCACCA	0.463000													7	55					0	0	0.003080	0	0
BCRP7	100133163	broad.mit.edu	37	22	18844763	18844763	+	RNA	SNP	T	T	C			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr22:18844763T>C	ENST00000412938.1	+	0	3013																											TCACAGCCTCTGAGGGCAGCA	0.562000													3	16					0	0	0.009096	0	0
WASH6P	653440	broad.mit.edu	37	X	155254706	155254706	+	RNA	SNP	C	C	T			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chrX:155254706C>T	ENST00000285718.7	+	0	1151				WASH6P_ENST00000461007.1_RNA														p.T415M(2)									GTGAGAGCCACGAGCCAAGGT	0.637000													6	9					0	0	0.001168	0	0
BRCA2	675	broad.mit.edu	37	13	32913306	32913306	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr13:32913306T>A	ENST00000544455.1	+	11	5041	c.4814T>A	c.(4813-4815)gTt>gAt	p.V1605D	BRCA2_ENST00000380152.3_Missense_Mutation_p.V1605D	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1605					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAAAACCTTGTTTCTATTGAG	0.343000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			4	75					0	0	0.009096	0	0
LAMP3	27074	broad.mit.edu	37	3	182853620	182853620	+	Silent	SNP	C	C	T			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr3:182853620C>T	ENST00000265598.3	-	5	1257	c.1002G>A	c.(1000-1002)ggG>ggA	p.G334G	LAMP3_ENST00000466939.1_Silent_p.G310G	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	334					cell proliferation	integral to membrane|lysosomal membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			TGAAGGAATGCCCGACTGCTG	0.468000													5	323					0	0	0.001168	0	0
COPS3	8533	broad.mit.edu	37	17	17150427	17150427	+	Silent	SNP	T	T	A			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr17:17150427T>A	ENST00000539941.2	-	12	1405	c.1197A>T	c.(1195-1197)ccA>ccT	p.P399P	COPS3_ENST00000439936.2_Silent_p.P341P|COPS3_ENST00000268717.5_Silent_p.P419P	NM_001199125.1	NP_001186054.1	Q9UNS2	CSN3_HUMAN	COP9 signalosome subunit 3	419					cullin deneddylation|response to light stimulus|signal transduction	cytoplasm|signalosome	protein binding			NS(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						AATAACTGGATGGTTTGTTTC	0.438000													4	116					0	0	0.000602	0	0
OR7E62P	26479	broad.mit.edu	37	2	71283122	71283123	+	RNA	INS	-	-	T	rs35074164		TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr2:71283122_71283123insT	ENST00000434990.1	-	0	61																											GGCACCACCCCCAGGAGTGGTG	0.530													3	6	---	---	---	---					
PSIP1	11168	broad.mit.edu	37	9	15486860	15486860	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr9:15486860delC	ENST00000380733.4	-	5	701	c.358delG	c.(358-360)aafs	p.E120fs	PSIP1_ENST00000380716.4_Frame_Shift_Del_p.E120fs|PSIP1_ENST00000380715.1_Frame_Shift_Del_p.E120fs|PSIP1_ENST00000380738.4_Frame_Shift_Del_p.E120fs|PSIP1_ENST00000397519.2_Frame_Shift_Del_p.E120fs			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	120					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		TCGGTATCTTCCTTTGAAACA	0.333													19	125	---	---	---	---					
KRTAP5-5	439915	broad.mit.edu	37	11	1651199	1651228	+	In_Frame_Del	DEL	AGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	AGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	-	rs35089393	by1000genomes	TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr11:1651199_1651228delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	ENST00000399676.2	+	1	167_196	c.129_158delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	c.(127-159)ggg>gg	p.GGCGGCGSGCA43del		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	43				G -> GGCGS (in Ref. 1; BAD20201 and 2; CAF31639).		keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ccggctgtggaggctgtgggggctgtggctccggctgtgcgggctgtggg	0.691													70	62	---	---	---	---					
KRTAP5-5	439915	broad.mit.edu	37	11	1651586	1651615	+	In_Frame_Del	DEL	CTGCTGCCAGTCCAGCTGCTGTAAGCCTTA	CTGCTGCCAGTCCAGCTGCTGTAAGCCTTA	-	rs76143925	by1000genomes	TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr11:1651586_1651615delCTGCTGCCAGTCCAGCTGCTGTAAGCCTTA	ENST00000399676.2	+	1	554_583	c.516_545delCTGCTGCCAGTCCAGCTGCTGTAAGCCTTA	c.(514-546)tcc>tc	p.SCCQSSCCKPY172del		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	172	8 X 4 AA repeats of C-C-X-P.					keratin filament		p.Y182_P191delYCCQSSCCKP(1)|p.Y192_P201delYCCQSSCCKP(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GTGGGTCATCCTGCTGCCAGTCCAGCTGCTGTAAGCCTTACTGCTGCCAG	0.613													86	72	---	---	---	---					
OR6C65	403282	broad.mit.edu	37	12	55794772	55794773	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr12:55794772_55794773insT	ENST00000379665.2	+	1	559_560	c.460_461insT	c.(460-462)tttfs	p.F154fs		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						TTTTCTCATTATTTTTCCCCCC	0.436													7	198	---	---	---	---