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	179576684	179576684	+	Silent	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr2:179576684G>A	ENST00000589042.1	-	96	28097	c.27873C>T	c.(27871-27873)ttC>ttT	p.F9291F	TTN_ENST00000342992.6_Silent_p.F8047F|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.F8974F|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8974	Ig-like 76.						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)			GAACGGTAAGGAAAGTTGATG	0.353000													15	62					0	0	0.004990	0	0
COL3A1	1281	broad.mit.edu	37	2	189873692	189873692	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr2:189873692C>T	ENST00000304636.3	+	48	3738	c.3568C>T	c.(3568-3570)Cct>Tct	p.P1190S	COL3A1_ENST00000317840.5_Missense_Mutation_p.P887S	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1190	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TCCTGGACCTCCTGGTGCCCC	0.557000													10	44					0	0	0.000978	0	0
MUC16	94025	broad.mit.edu	37	19	9085550	9085550	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr19:9085550C>T	ENST00000397910.4	-	1	6468	c.6265G>A	c.(6265-6267)Gaa>Aaa	p.E2089K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2089	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			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						AGTGGAAATTCAGTCGTAGTT	0.473000													28	135					0	0	0.006320	0	0
SERPINB12	89777	broad.mit.edu	37	18	61228356	61228356	+	Silent	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr18:61228356G>A	ENST00000382768.1	+	4	483	c.483G>A	c.(481-483)acG>acA	p.T161T	SERPINB12_ENST00000269491.1_Silent_p.T141T			Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	141					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity	p.T141T(1)		kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						ACCACACGACGATTGAAAGTG	0.383000													12	62					0	0	0.001368	0	0
LECT1	11061	broad.mit.edu	37	13	53298220	53298220	+	Missense_Mutation	SNP	C	C	T	rs881482		TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr13:53298220C>T	ENST00000448904.2	-	4	490	c.380G>A	c.(379-381)gGa>gAa	p.G127E	LECT1_ENST00000377962.3_Missense_Mutation_p.G127E	NM_001011705.1|NM_007015.2	NP_001011705.1|NP_008946.1	O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1	127	BRICHOS.				cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		CTTCTCTCCTCCAGCAAAACG	0.448000													4	27					0	0	0.000602	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106810345	106810345	+	Silent	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr11:106810345C>T	ENST00000526355.1	-	4	1515	c.1047G>A	c.(1045-1047)caG>caA	p.Q349Q	GUCY1A2_ENST00000347596.2_Silent_p.Q349Q|GUCY1A2_ENST00000282249.2_Silent_p.Q349Q	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	349					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		CACATCGAAGCTGCTTCCTTA	0.473000													8	15					0	0	0.003080	0	0
ZNF516	9658	broad.mit.edu	37	18	74091512	74091512	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr18:74091512G>A	ENST00000443185.2	-	4	2875	c.2558C>T	c.(2557-2559)cCc>cTc	p.P853L	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	853					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P853L(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CACTCCCAGGGGAGAAGAGCC	0.627000													30	86					0	0	0.002445	0	0
C5orf42	65250	broad.mit.edu	37	5	37196077	37196077	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr5:37196077G>A	ENST00000274258.7	-	21	3924	c.337C>T	c.(337-339)Cct>Tct	p.P113S	C5orf42_ENST00000508244.1_Missense_Mutation_p.P1232S|C5orf42_ENST00000425232.2_Missense_Mutation_p.P1232S			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	1232										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CTCAGTGAAGGAAGGGATCCT	0.358000													7	36					0	0	0.003080	0	0
COL15A1	1306	broad.mit.edu	37	9	101748013	101748013	+	Silent	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr9:101748013G>A	ENST00000375001.3	+	3	690	c.267G>A	c.(265-267)agG>agA	p.R89R		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	89	TSP N-terminal.				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CCTTCTTCAGGGACTTCGCCA	0.617000													11	31					0	0	0.001855	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19666684	19666684	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr21:19666684G>A	ENST00000284885.3	-	21	2422	c.2389C>T	c.(2389-2391)Ccc>Tcc	p.P797S		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	797	Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						ACAACCCAGGGCCAGGCCCCT	0.527000													23	80					0	0	0.002780	0	0
MIR299	407023	broad.mit.edu	37	14	101490176	101490176	+	RNA	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr14:101490176G>A	ENST00000385016.2	+	0	63					NR_029841.1																						ATGTATGTGGGATGGTAAACC	0.532000													13	47					0	0	0.002450	0	0
STAB2	55576	broad.mit.edu	37	12	104046378	104046378	+	Silent	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr12:104046378G>A	ENST00000388887.2	+	12	1506	c.1302G>A	c.(1300-1302)gtG>gtA	p.V434V		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	434	FAS1 1.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AATACTTTGTGAAACTCCACA	0.363000													6	27					0	0	0.001984	0	0
MYH2	4620	broad.mit.edu	37	17	10446476	10446476	+	Silent	SNP	A	A	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr17:10446476A>T	ENST00000245503.5	-	9	1128	c.744T>A	c.(742-744)ggT>ggA	p.G248G	MYH2_ENST00000532183.1_Silent_p.G248G|MYH2_ENST00000397183.2_Silent_p.G248G|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	248	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TGATGAATTTACCCTTGAAAT	0.274000													23	78					0	0	0.004656	0	0
MSX2	4488	broad.mit.edu	37	5	174156265	174156265	+	Silent	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr5:174156265C>T	ENST00000239243.6	+	2	610	c.483C>T	c.(481-483)ttC>ttT	p.F161F	MSX2_ENST00000507785.1_3'UTR	NM_002449.4	NP_002440.2	P35548	MSX2_HUMAN	msh homeobox 2	161					cranial suture morphogenesis|negative regulation of transcription, DNA-dependent|osteoblast differentiation	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10	Renal(175;0.000159)|Lung NSC(126;0.0196)|all_lung(126;0.0303)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			AGCGCAAGTTCCGTCAGAAAC	0.562000													7	31					0	0	0.001984	0	0
CCDC73	493860	broad.mit.edu	37	11	32635092	32635092	+	Silent	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr11:32635092C>T	ENST00000335185.5	-	16	2815	c.2772G>A	c.(2770-2772)tcG>tcA	p.S924S		NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	924										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TGCAAGGGGTCGAACTGCTCG	0.383000													21	67					0	0	0.008871	0	0
JAM2	58494	broad.mit.edu	37	21	27071073	27071073	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr21:27071073G>A	ENST00000480456.1	+	5	1029	c.479G>A	c.(478-480)gGg>gAg	p.G160E	JAM2_ENST00000425221.2_Missense_Mutation_p.G124E|JAM2_ENST00000312957.5_Missense_Mutation_p.G160E|JAM2_ENST00000400532.1_Missense_Mutation_p.G160E	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	160	Ig-like C2-type.				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						GACAAAGAAGGGAATCCAGCT	0.468000													8	25					0	0	0.003080	0	0
MYBPC3	4607	broad.mit.edu	37	11	47367775	47367775	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr11:47367775T>G	ENST00000399249.2	-	11	1127	c.1073A>C	c.(1072-1074)gAt>gCt	p.D358A	MYBPC3_ENST00000256993.4_Missense_Mutation_p.D358A|MYBPC3_ENST00000545968.1_Missense_Mutation_p.D358A			Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	358					cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		CTTCTTCTCATCGCGCCTCAT	0.607000													5	21					0	0	0.000602	0	0
DUOX1	53905	broad.mit.edu	37	15	45424173	45424173	+	Silent	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr15:45424173C>T	ENST00000321429.4	+	3	416	c.9C>T	c.(7-9)ttC>ttT	p.F3F	DUOX1_ENST00000389037.3_Silent_p.F3F	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	3					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TCATGGGCTTCTGCCTGGCTC	0.507000													41	106					0	0	0.002522	0	0
CTNNB1	1499	broad.mit.edu	37	3	41266124	41266124	+	Missense_Mutation	SNP	A	A	G	rs121913412		TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr3:41266124A>G	ENST00000349496.5	+	3	401	c.121A>G	c.(121-123)Acc>Gcc	p.T41A	CTNNB1_ENST00000396185.3_Missense_Mutation_p.T41A|CTNNB1_ENST00000396183.3_Missense_Mutation_p.T41A|CTNNB1_ENST00000453024.1_Missense_Mutation_p.T34A|CTNNB1_ENST00000405570.1_Missense_Mutation_p.T41A	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	41			T -> A (in hepatoblastoma and hepatocellular carcinoma; also in a desmoid tumor; strongly reduces phosphorylation and degradation; abolishes phosphorylation on Ser-33 and Ser-37 and enhances transactivation of target genes).|T -> I (in PTR, hepatocellular carcinoma and ovarian cancer).		adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.T41A(550)|p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.T41P(6)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T41S(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.T40_L46del(1)|p.A20_N141del(1)|p.T41_N51del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.I35_T41del(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.A39_T42del(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	TGGTGCCACTACCACAGCTCC	0.507000	T41A(CCK81_LARGE_INTESTINE)	15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				7	14					0	0	0.001984	0	0
PARP8	79668	broad.mit.edu	37	5	50091242	50091242	+	Silent	SNP	T	T	C			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr5:50091242T>C	ENST00000281631.5	+	12	1577	c.1419T>C	c.(1417-1419)tcT>tcC	p.S473S	PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000503750.2_Silent_p.S473S|PARP8_ENST00000505697.2_Silent_p.S473S|PARP8_ENST00000514342.2_Silent_p.S226S|PARP8_ENST00000514067.2_Silent_p.S473S|PARP8_ENST00000505554.1_Silent_p.S452S	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	473	Poly-Ser.					intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				CTTCATCTTCTCAGCTTGCTG	0.398000													11	31					0	0	0.001368	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54911318	54911318	+	Splice_Site	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr12:54911318C>T	ENST00000293373.6	+	12	1176	c.1095_splice	c.e12-1	p.A366_splice	NCKAP1L_ENST00000545638.2_Splice_Site_p.A316_splice|NCKAP1L_ENST00000552211.1_3'UTR	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	366					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CCTCCATAGGCTCTTTTTGCT	0.413000													8	36					0	0	0.003080	0	0
TPSG1	25823	broad.mit.edu	37	16	1272234	1272234	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr16:1272234C>T	ENST00000234798.4	-	5	623	c.619G>A	c.(619-621)Gac>Aac	p.D207N		NM_012467.3	NP_036599.3	Q9NRR2	TRYG1_HUMAN	tryptase gamma 1	207	Peptidase S1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			liver(1)|lung(2)|skin(1)	4		Hepatocellular(780;0.00369)				CACAGCATGTCGGGCTGAAGG	0.711000													13	29					0	0	0.001368	0	0
OR3A1	4994	broad.mit.edu	37	17	3195158	3195158	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr17:3195158G>A	ENST00000323404.1	-	1	718	c.719C>T	c.(718-720)gCc>gTc	p.A240V	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						TGTGGAGAAGGCTTTCTTCCT	0.488000													7	39					0	0	0.003080	0	0
FXYD4	53828	broad.mit.edu	37	10	43870072	43870072	+	Missense_Mutation	SNP	G	G	A	rs150156235	byFrequency	TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr10:43870072G>A	ENST00000476166.1	+	5	416	c.82G>A	c.(82-84)Gat>Aat	p.D28N	FXYD4_ENST00000480834.1_3'UTR	NM_173160.2	NP_775183.1	P59646	FXYD4_HUMAN	FXYD domain containing ion transport regulator 4	28						integral to membrane				NS(1)|large_intestine(1)|lung(3)	5						CAATAAAGACGATCCCTTCTA	0.522000													25	98					0	0	0.002096	0	0
TMEM119	338773	broad.mit.edu	37	12	108985911	108985911	+	Silent	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr12:108985911G>A	ENST00000392806.3	-	2	417	c.249C>T	c.(247-249)ttC>ttT	p.F83F		NM_181724.2	NP_859075.2	Q4V9L6	TM119_HUMAN	transmembrane protein 119	83						integral to membrane		p.F83F(1)		large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						TCCCATCCAGGAAGTTGGTGG	0.652000													9	15					0	0	0.008291	0	0
OR2G6	391211	broad.mit.edu	37	1	248685664	248685664	+	Silent	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr1:248685664G>A	ENST00000343414.4	+	1	749	c.717G>A	c.(715-717)ggG>ggA	p.G239G		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGGCCTTTGGGACCTGTTCGT	0.458000													14	58					0	0	0.002450	0	0
PSMD3	5709	broad.mit.edu	37	17	38140725	38140725	+	Silent	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr17:38140725C>T	ENST00000264639.4	+	2	573	c.399C>T	c.(397-399)ccC>ccT	p.P133P	PSMD3_ENST00000541736.1_5'UTR	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3	133					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					TTTTGCTCCCCTTCCTGGAAG	0.507000													8	32					0	0	0.003080	0	0
CACNA1B	774	broad.mit.edu	37	9	141015994	141015994	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr9:141015994G>A	ENST00000277549.5	+	47	6714	c.4145G>A	c.(4144-4146)aGg>aAg	p.R1382K	CACNA1B_ENST00000277551.2_Intron|CACNA1B_ENST00000371357.1_Missense_Mutation_p.R2187K|CACNA1B_ENST00000371372.1_Missense_Mutation_p.R2188K|CACNA1B_ENST00000371363.1_Missense_Mutation_p.R2186K|CACNA1B_ENST00000371355.4_Missense_Mutation_p.R2189K			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	2188					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GGTGGGCGGAGGCAGCTCCCC	0.637000													6	26					0	0	0.001984	0	0
BFSP2	8419	broad.mit.edu	37	3	133167448	133167448	+	Silent	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr3:133167448C>T	ENST00000302334.2	+	3	777	c.688C>T	c.(688-690)Ctg>Ttg	p.L230L	RP11-91K8.1_ENST00000515542.1_RNA	NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	230	Rod.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						AATAGAAAGTCTGAAAGAAGA	0.448000													6	30					0	0	0.001168	0	0
COLEC11	78989	broad.mit.edu	37	2	3691389	3691389	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr2:3691389C>T	ENST00000403096.3	+	6	910	c.419C>T	c.(418-420)gCc>gTc	p.A140V	COLEC11_ENST00000236693.7_Missense_Mutation_p.A163V|COLEC11_ENST00000402922.1_Missense_Mutation_p.A116V|COLEC11_ENST00000349077.4_Missense_Mutation_p.A166V|COLEC11_ENST00000402794.1_Missense_Mutation_p.A116V|COLEC11_ENST00000404205.1_Missense_Mutation_p.A92V|COLEC11_ENST00000382062.2_Missense_Mutation_p.A142V|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000418971.2_Missense_Mutation_p.A180V	NM_001255986.1	NP_001242915.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	166						collagen	mannose binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		TACGCGGACGCCCAGCTGTCC	0.667000													10	21					0	0	0.006214	0	0
KDM5A	5927	broad.mit.edu	37	12	404935	404935	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr12:404935G>A	ENST00000399788.2	-	26	4621	c.4259C>T	c.(4258-4260)cCt>cTt	p.P1420L	KDM5A_ENST00000382815.4_Missense_Mutation_p.P1420L	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1420					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						GCTCTTCCGAGGTTGTTTCCT	0.408000			T	NUP98	AML								27	79					0	0	0.007291	0	0
HSD3B7	80270	broad.mit.edu	37	16	30999285	30999285	+	Silent	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr16:30999285C>T	ENST00000297679.5	+	7	984	c.891C>T	c.(889-891)ttC>ttT	p.F297F	HSD3B7_ENST00000353250.5_3'UTR|HSD3B7_ENST00000262520.6_3'UTR	NM_025193.3	NP_079469.2	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	297					bile acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						TGCTGGTGTTCCTGGCTGCCC	0.657000													22	65					0	0	0.001882	0	0
DACH1	1602	broad.mit.edu	37	13	72053370	72053370	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr13:72053370C>T	ENST00000305425.4	-	8	2229	c.1807G>A	c.(1807-1809)Gat>Aat	p.D603N	DACH1_ENST00000354591.4_Missense_Mutation_p.D401N|DACH1_ENST00000359684.2_Missense_Mutation_p.D655N|DACH1_ENST00000313174.7_Missense_Mutation_p.D455N	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	653					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		CTTAAAAAATCCATCTTCAGC	0.378000													16	46					0	0	0.004007	0	0
PCDHGA4	56111	broad.mit.edu	37	5	140736378	140736378	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr5:140736378T>G	ENST00000571252.1	+	1	1611	c.1611T>G	c.(1609-1611)agT>agG	p.S537R	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGTGACAGTGGAGACCCTC	0.512000													28	86					0	0	0.008361	0	0
ELTD1	64123	broad.mit.edu	37	1	79387394	79387394	+	Silent	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr1:79387394C>T	ENST00000370742.3	-	9	1224	c.1161G>A	c.(1159-1161)gaG>gaA	p.E387E		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	387	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GCTCACAGCCCTCTGAAGACC	0.428000													13	29					0	0	0.006122	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37419179	37419179	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr10:37419179C>T	ENST00000374660.1	+	3	314	c.215C>T	c.(214-216)tCt>tTt	p.S72F	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.S72F|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.S72F			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	128						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CTGATAGATTCTGGTGCCGAT	0.368000													10	35					0	0	0.006214	0	0
COL4A5	1287	broad.mit.edu	37	X	107841970	107841970	+	Silent	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chrX:107841970G>A	ENST00000328300.6	+	25	2062	c.1818G>A	c.(1816-1818)ggG>ggA	p.G606G	COL4A5_ENST00000361603.2_Silent_p.G606G	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	606	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GTCCCCCTGGGAACCCAGGTT	0.483000									Alport syndrome with Diffuse Leiomyomatosis				50	20					0	0	0.003610	0	0
ROS1	6098	broad.mit.edu	37	6	117631283	117631283	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr6:117631283C>T	ENST00000368508.3	-	40	6593	c.6395G>A	c.(6394-6396)aGt>aAt	p.S2132N	ROS1_ENST00000368507.3_Missense_Mutation_p.S2126N	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	2132	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ATCCATCAAACTTTCTGGAGC	0.418000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								30	68					0	0	0.002836	0	0
HHIP	64399	broad.mit.edu	37	4	145579946	145579946	+	Silent	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr4:145579946C>T	ENST00000296575.3	+	3	1132	c.477C>T	c.(475-477)ttC>ttT	p.F159F	HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000434550.2_Silent_p.F159F|HHIP_ENST00000511314.1_3'UTR	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	159						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		TTAAAGGTTTCCTTCAAACAA	0.343000													18	48					0	0	0.001523	0	0
ATP8B4	79895	broad.mit.edu	37	15	50189680	50189680	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr15:50189680C>T	ENST00000284509.6	-	23	2647	c.2506G>A	c.(2506-2508)Gaa>Aaa	p.E836K	ATP8B4_ENST00000559829.1_Missense_Mutation_p.E836K	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	836					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TGCAATCCTTCCTGGCCGCTG	0.448000													20	68					0	0	0.001523	0	0
GPR98	84059	broad.mit.edu	37	5	90073776	90073776	+	Silent	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr5:90073776C>T	ENST00000405460.2	+	62	12678	c.12582C>T	c.(12580-12582)ttC>ttT	p.F4194F		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4194					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GGAGGATATTCCCTCCTTCCG	0.433000													6	12					0	0	0.001984	0	0
IRF9	10379	broad.mit.edu	37	14	24624861	24624861	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr14:24624861C>T	ENST00000558468.1	+	6	878	c.878C>T	c.(877-879)cCc>cTc	p.P293L	RNF31_ENST00000382687.3_Missense_Mutation_p.P667L|RNF31_ENST00000324103.6_Missense_Mutation_p.P818L|RNF31_ENST00000559275.1_Missense_Mutation_p.P667L																							GCAACTTGTCCCCAGTGTCAC	0.512000													18	54					0	0	0.001882	0	0
C1orf106	55765	broad.mit.edu	37	1	200880917	200880917	+	Silent	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr1:200880917C>T	ENST00000367342.4	+	9	1751	c.1551C>T	c.(1549-1551)ttC>ttT	p.F517F	C1orf106_ENST00000413687.2_Silent_p.F432F	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	517										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						CTGGCTATTTCCCGGCGGGGC	0.731000													4	21					0	0	0.000602	0	0
ACSL5	51703	broad.mit.edu	37	10	114169401	114169401	+	Silent	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr10:114169401G>A	ENST00000393081.1	+	7	976	c.669G>A	c.(667-669)ggG>ggA	p.G223G	ACSL5_ENST00000354655.4_Silent_p.G223G|ACSL5_ENST00000356116.1_Silent_p.G279G|ACSL5_ENST00000354273.4_Silent_p.G223G|ACSL5_ENST00000433418.1_Silent_p.G223G|ACSL5_ENST00000369410.3_5'UTR	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	223					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		AGCAAAGAGGGGAGAAGAGTG	0.468000													20	75					0	0	0.001882	0	0
MROH2B	133558	broad.mit.edu	37	5	41055889	41055889	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr5:41055889G>A	ENST00000399564.4	-	10	1438	c.988C>T	c.(988-990)Cga>Tga	p.R330*	MROH2B_ENST00000506092.2_Intron	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		ATTCCCACTCGAATGGCTTCA	0.413000													17	55					0	0	0.007413	0	0
APOB	338	broad.mit.edu	37	2	21230600	21230600	+	Missense_Mutation	SNP	G	G	A	rs61742323	byFrequency	TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr2:21230600G>A	ENST00000233242.1	-	26	9267	c.9140C>T	c.(9139-9141)aCg>aTg	p.T3047M		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3047					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGTGGATGCCGTGATCTCAAA	0.393000													92	326					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179437129	179437129	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr2:179437129G>A	ENST00000589042.1	-	326	73954	c.73730C>T	c.(73729-73731)tCc>tTc	p.S24577F	TTN_ENST00000342992.6_Missense_Mutation_p.S22009F|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S15704F|TTN_ENST00000359218.5_Missense_Mutation_p.S15637F|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S22936F|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S15512F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22936	Ig-like 122.						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)			TACCTTCCAGGAAGTCTTGTG	0.428000													10	30					0	0	0.001855	0	0
DCAF4	26094	broad.mit.edu	37	14	73409707	73409707	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr14:73409707C>T	ENST00000553457.1	+	5	427	c.137C>T	c.(136-138)gCc>gTc	p.A46V	DCAF4_ENST00000509153.1_Intron|DCAF4_ENST00000353777.3_Intron|DCAF4_ENST00000358377.2_Missense_Mutation_p.A146V|DCAF4_ENST00000394234.2_Missense_Mutation_p.A46V|DCAF4_ENST00000555042.1_Missense_Mutation_p.A146V			Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4	146						CUL4 RING ubiquitin ligase complex				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						TGCAGTTTAGCCCACGAGCTG	0.567000													6	23					0	0	0.001168	0	0
DNAH14	127602	broad.mit.edu	37	1	225140444	225140444	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr1:225140444C>T	ENST00000430092.1	+	2	255	c.40C>T	c.(40-42)Caa>Taa	p.Q14*	DNAH14_ENST00000498360.1_3'UTR|DNAH14_ENST00000366849.1_Nonsense_Mutation_p.Q14*|DNAH14_ENST00000439375.2_Nonsense_Mutation_p.Q14*|DNAH14_ENST00000366850.3_Nonsense_Mutation_p.Q14*|DNAH14_ENST00000400952.3_Nonsense_Mutation_p.Q14*|DNAH14_ENST00000366848.1_Nonsense_Mutation_p.Q14*	NM_001373.1	NP_001364.1	Q0VDD8	DYH14_HUMAN	dynein, axonemal, heavy chain 14	191					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						AACTGAAAATCAAGAGATGGA	0.308000													6	12					0	0	0.001984	0	0
CPS1	1373	broad.mit.edu	37	2	211541760	211541760	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr2:211541760T>C	ENST00000233072.5	+	37	4500	c.4304T>C	c.(4303-4305)gTg>gCg	p.V1435A	CPS1_ENST00000451903.2_Missense_Mutation_p.V984A|CPS1_ENST00000430249.2_Missense_Mutation_p.V1441A	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1435					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		ATTGACCTAGTGATTAACCTT	0.328000													15	60					0	0	0.003163	0	0
SRCAP	10847	broad.mit.edu	37	16	30735349	30735349	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr16:30735349C>T	ENST00000262518.4	+	25	4989	c.4604C>T	c.(4603-4605)cCa>cTa	p.P1535L	SRCAP_ENST00000344771.4_Missense_Mutation_p.P1377L|SRCAP_ENST00000395059.2_Missense_Mutation_p.P1473L	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1535	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TCACATGTTCCAGGGTTGAAC	0.572000													5	17					0	0	0.000602	0	0
WBP11P1	441818	broad.mit.edu	37	18	30093406	30093406	+	RNA	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr18:30093406C>T	ENST00000567636.1	+	0	1781					NR_003558.1																						CCCACCAGCTCCCTTGCTGAA	0.517000													13	27					0	0	0.001368	0	0
PDE11A	50940	broad.mit.edu	37	2	178634094	178634094	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr2:178634094G>A	ENST00000286063.5	-	10	2062	c.1745C>T	c.(1744-1746)tCa>tTa	p.S582L	PDE11A_ENST00000389683.3_Missense_Mutation_p.S138L|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000358450.4_Missense_Mutation_p.S332L|PDE11A_ENST00000449286.2_Missense_Mutation_p.S224L|PDE11A_ENST00000409504.1_Missense_Mutation_p.S224L	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	582					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			TGCATGGTATGATAGCACCTG	0.328000									Primary Pigmented Nodular Adrenocortical Disease, Familial				6	19					0	0	0.001168	0	0
IGFBP6	3489	broad.mit.edu	37	12	53494516	53494516	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr12:53494516G>A	ENST00000548547.1	+	2	631	c.349G>A	c.(349-351)Gag>Aag	p.E117K	IGFBP6_ENST00000301464.3_Missense_Mutation_p.E119K|IGFBP6_ENST00000549628.1_3'UTR			P24592	IBP6_HUMAN	insulin-like growth factor binding protein 6	119					negative regulation of cell proliferation|regulation of cell growth|signal transduction					large_intestine(1)|lung(3)|ovary(1)|pancreas(1)	6						GAATCCTAAGGAGAGTAAACC	0.572000													14	51					0	0	0.002450	0	0
C8B	732	broad.mit.edu	37	1	57422471	57422471	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr1:57422471C>T	ENST00000543257.1	-	4	772	c.206G>A	c.(205-207)cGa>cAa	p.R69Q	C8B_ENST00000535057.1_Missense_Mutation_p.R59Q|C8B_ENST00000371237.4_Missense_Mutation_p.R121Q	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	121	TSP type-1 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						GCCTTCACATCGCACTTGACT	0.483000													63	209					0	0	0.003610	0	0
GGT3P	2679	broad.mit.edu	37	22	18769227	18769227	+	RNA	SNP	C	C	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr22:18769227C>A	ENST00000412448.1	-	0	1059																											CTCCCCCTCCCGAAGCACCTT	0.652000													6	40					0.00307968	0.00555087	0.003080	1	0
ARHGAP44	9912	broad.mit.edu	37	17	12862115	12862115	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr17:12862115C>A	ENST00000379672.5	+	16	1724	c.1424C>A	c.(1423-1425)cCa>cAa	p.P475Q	ARHGAP44_ENST00000262444.9_Missense_Mutation_p.P475Q|ARHGAP44_ENST00000340825.3_Missense_Mutation_p.P475Q	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	475					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						ATGCCCTCCCCAGACATGGAC	0.542000													7	12					1.06961e-07	1.9515e-07	0.003080	1	0
CAMTA1	23261	broad.mit.edu	37	1	7723467	7723467	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr1:7723467C>T	ENST00000303635.7	+	9	1067	c.860C>T	c.(859-861)tCg>tTg	p.S287L	CAMTA1_ENST00000439411.2_Missense_Mutation_p.S287L	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	287					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	p.S287L(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CGCATCATCTCGCCCAAGGTG	0.637000			T	WWTR1	epitheliod hemangioendothelioma								27	84					0	0	0.006320	0	0
INSRR	3645	broad.mit.edu	37	1	156816380	156816380	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr1:156816380T>C	ENST00000368195.3	-	8	2137	c.1741A>G	c.(1741-1743)Acc>Gcc	p.T581A	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	581	Fibronectin type-III 1.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TCCTCAGTGGTTAGCGTGATG	0.607000													8	23					0	0	0.004482	0	0
PARD3B	117583	broad.mit.edu	37	2	206305171	206305171	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr2:206305171C>T	ENST00000406610.2	+	20	3026	c.2819C>T	c.(2818-2820)tCa>tTa	p.S940L	PARD3B_ENST00000358768.2_Missense_Mutation_p.S878L|PARD3B_ENST00000349953.3_Intron|PARD3B_ENST00000351153.1_Missense_Mutation_p.S871L	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	940					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GCAATTGGATCAGTGTATGAT	0.428000													19	65					0	0	0.007413	0	0
ZNF112	7665	broad.mit.edu	37	19	44834031	44834031	+	Silent	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr19:44834031G>A	ENST00000354340.4	-	4	330	c.279C>T	c.(277-279)tcC>tcT	p.S93S	ZNF112_ENST00000536500.1_Silent_p.S116S|CTC-512J12.6_ENST00000588212.1_Silent_p.S98S|ZNF112_ENST00000337401.4_Silent_p.S99S	NM_013380.3	NP_037512.3			zinc finger protein 112																		GCTCTTTGGGGGAAAAGTAGC	0.418000													5	40					0	0	0.000602	0	0
CKAP5	9793	broad.mit.edu	37	11	46780829	46780829	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr11:46780829G>A	ENST00000529230.1	-	34	4604	c.4558C>T	c.(4558-4560)Cct>Tct	p.P1520S	CKAP5_ENST00000354558.3_Missense_Mutation_p.P1520S|CKAP5_ENST00000415402.1_Missense_Mutation_p.P1520S|CKAP5_ENST00000312055.5_Missense_Mutation_p.P1520S			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1520					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TTGGGTTCAGGAATAAGGACT	0.403000													19	51					0	0	0.001523	0	0
PRUNE2	158471	broad.mit.edu	37	9	79318448	79318448	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr9:79318448G>A	ENST00000428286.1	-	9	8204	c.7004C>T	c.(7003-7005)cCa>cTa	p.P2335L	PRUNE2_ENST00000376718.3_Missense_Mutation_p.P2694L			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2694					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TTGGCTGACTGGACCAGAGGC	0.537000													27	49					0	0	0.004656	0	0
OR1J2	26740	broad.mit.edu	37	9	125273927	125273927	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr9:125273927C>G	ENST00000335302.5	+	1	847	c.847C>G	c.(847-849)Ccc>Gcc	p.P283A		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						GGTGGTCACACCCATGTTGAA	0.448000													25	86					0	0	0.004656	0	0
CD207	50489	broad.mit.edu	37	2	71062730	71062730	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr2:71062730G>A	ENST00000410009.3	-	2	127	c.82C>T	c.(82-84)Ccc>Tcc	p.P28S		NM_015717.3	NP_056532.3	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	28					defense response to virus	endocytic vesicle|integral to membrane	mannose binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						CCGGACTTGGGAGGAGGCTCT	0.577000													4	17					0	0	0.000248	0	0
DNAH10	196385	broad.mit.edu	37	12	124268493	124268493	+	Splice_Site	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr12:124268493G>A	ENST00000409039.3	+	8	841		c.e8-1			NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10						microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TCACCTCTCAGGGTAAAGGCC	0.443000													8	12					0	0	0.003080	0	0
ARHGAP28	79822	broad.mit.edu	37	18	6859866	6859866	+	Silent	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr18:6859866G>A	ENST00000419673.2	+	4	436	c.219G>A	c.(217-219)ggG>ggA	p.G73G	ARHGAP28_ENST00000262227.3_Silent_p.G180G|ARHGAP28_ENST00000383472.4_Silent_p.G232G|ARHGAP28_ENST00000400091.2_Silent_p.G232G|ARHGAP28_ENST00000532996.1_Silent_p.G55G|ARHGAP28_ENST00000531294.1_Silent_p.G68G|ARHGAP28_ENST00000418986.1_Silent_p.G73G|ARHGAP28_ENST00000314319.3_Silent_p.G73G	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN	Rho GTPase activating protein 28	55					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				ATAAAGAAGGGAGTTTTGCGG	0.433000													24	113					0	0	0.007291	0	0
LYST	1130	broad.mit.edu	37	1	235973240	235973240	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr1:235973240A>G	ENST00000389794.3	-	5	1052	c.878T>C	c.(877-879)cTa>cCa	p.L293P	LYST_ENST00000536965.1_Missense_Mutation_p.L293P|LYST_ENST00000389793.2_Missense_Mutation_p.L293P			Q99698	LYST_HUMAN	lysosomal trafficking regulator	293					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AAAGCCTGCTAGGAATTCAGT	0.438000													6	23					0	0	0.001984	0	0
TLL1	7092	broad.mit.edu	37	4	166914025	166914025	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr4:166914025G>A	ENST00000061240.2	+	3	997	c.350G>A	c.(349-351)aGa>aAa	p.R117K	TLL1_ENST00000507499.1_Missense_Mutation_p.R117K|TLL1_ENST00000513213.1_Missense_Mutation_p.R117K	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	117					cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AGGATAAGAAGAATTGGCTTT	0.368000													8	35					0	0	0.006214	0	0
SLC30A8	169026	broad.mit.edu	37	8	118159286	118159286	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr8:118159286T>G	ENST00000427715.2	+	5	452	c.18T>G	c.(16-18)agT>agG	p.S6R	SLC30A8_ENST00000521243.1_Missense_Mutation_p.S6R|SLC30A8_ENST00000519688.1_Missense_Mutation_p.S6R|SLC30A8_ENST00000456015.2_Missense_Mutation_p.S55R	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	55					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			ACTGCCACAGTGGCTCCAAGC	0.502000													184	278					0	0	0.003610	0	0
PDP2	57546	broad.mit.edu	37	16	66918600	66918600	+	Missense_Mutation	SNP	G	G	C	rs146518082		TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr16:66918600G>C	ENST00000311765.2	+	2	747	c.413G>C	c.(412-414)gGc>gCc	p.G138A	PDP2_ENST00000568720.1_Intron	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 2	138					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		CTGATGTTTGGCATCTTCGAT	0.567000													18	37					0	0	0.008871	0	0
CCBE1	147372	broad.mit.edu	37	18	57147453	57147453	+	Missense_Mutation	SNP	C	C	T	rs140934817		TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr18:57147453C>T	ENST00000439986.4	-	3	267	c.230G>A	c.(229-231)gGa>gAa	p.G77E	CCBE1_ENST00000398179.2_5'UTR	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	77					lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding	p.G77E(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				AAATTTATATCCTTTGCAGCA	0.264000													14	22					0	0	0.004007	0	0
PFAS	5198	broad.mit.edu	37	17	8159863	8159863	+	Silent	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr17:8159863C>T	ENST00000314666.6	+	8	976	c.843C>T	c.(841-843)gtC>gtT	p.V281V	PFAS_ENST00000545834.1_5'UTR	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	281					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GAAAGGAAGTCCGATTCCTAC	0.577000													13	26					0	0	0.001855	0	0
CLSTN3	9746	broad.mit.edu	37	12	7288854	7288854	+	Silent	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr12:7288854C>T	ENST00000537408.1	+	5	1369	c.831C>T	c.(829-831)ttC>ttT	p.F277F	CLSTN3_ENST00000266546.6_Silent_p.F265F			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	265					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						TGGCTTTGTTCCCTGGTATCC	0.557000													13	40					0	0	0.002450	0	0
OR4K2	390431	broad.mit.edu	37	14	20345323	20345323	+	Silent	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr14:20345323G>A	ENST00000298642.2	+	1	933	c.897G>A	c.(895-897)agG>agA	p.R299R		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R299S(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TAGCCATGAGGAAACTGAAAA	0.343000													8	61					0	0	0.004482	0	0
PRPF38B	55119	broad.mit.edu	37	1	109242118	109242118	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr1:109242118G>A	ENST00000370021.1	+	7	1421	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K	PRPF38B_ENST00000370025.4_Missense_Mutation_p.E373K			Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	373	Arg-rich.				mRNA processing|RNA splicing	spliceosomal complex				NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		ctatgataaggaaagaggaaa	0.433000													3	2					0	0	0.004672	0	0
MECOM	2122	broad.mit.edu	37	3	168834173	168834173	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr3:168834173G>A	ENST00000464456.1	-	7	2123	c.923C>T	c.(922-924)cCt>cTt	p.P308L	MECOM_ENST00000472280.1_Missense_Mutation_p.P309L|MECOM_ENST00000468789.1_Missense_Mutation_p.P308L|MECOM_ENST00000494292.1_Missense_Mutation_p.P496L|MECOM_ENST00000460814.1_Missense_Mutation_p.P308L|MECOM_ENST00000392736.3_Missense_Mutation_p.P308L|MECOM_ENST00000264674.3_Missense_Mutation_p.P373L|MECOM_ENST00000433243.2_Missense_Mutation_p.P309L	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CAAGCCGGAAGGAAACAGACC	0.478000													10	31					0	0	0.008291	0	0
TPSG1	25823	broad.mit.edu	37	16	1271813	1271813	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr16:1271813C>T	ENST00000234798.4	-	6	945	c.941G>A	c.(940-942)gGt>gAt	p.G314D		NM_012467.3	NP_036599.3	Q9NRR2	TRYG1_HUMAN	tryptase gamma 1	314					proteolysis	integral to plasma membrane	serine-type endopeptidase activity			liver(1)|lung(2)|skin(1)	4		Hepatocellular(780;0.00369)				GAAGGGAGTACCATCCGCAGA	0.577000													9	19					0	0	0.000978	0	0
CCDC178	374864	broad.mit.edu	37	18	30795606	30795606	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr18:30795606C>T	ENST00000383096.3	-	19	2168	c.1986G>A	c.(1984-1986)atG>atA	p.M662I	CCDC178_ENST00000583930.1_Missense_Mutation_p.M662I|CCDC178_ENST00000402325.1_Missense_Mutation_p.M662I|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000300227.8_Missense_Mutation_p.M624I|CCDC178_ENST00000406524.2_Missense_Mutation_p.M662I|CCDC178_ENST00000579947.1_Missense_Mutation_p.M662I|CCDC178_ENST00000403303.1_Missense_Mutation_p.M662I					coiled-coil domain containing 178									p.M624I(1)|p.M662I(1)									CATAAAAAATCATTGTCTTAC	0.254000													5	27					0	0	0.000602	0	0
THBS2	7058	broad.mit.edu	37	6	169620354	169620354	+	Silent	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr6:169620354C>T	ENST00000366787.3	-	22	3699	c.3450G>A	c.(3448-3450)ctG>ctA	p.L1150L	THBS2_ENST00000488355.1_5'UTR|XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	1150	TSP C-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CAAATAGACCCAGCCGCCCGC	0.463000													32	64					0	0	0.002836	0	0
BMP3	651	broad.mit.edu	37	4	81967122	81967122	+	Silent	SNP	C	C	T	rs147415195		TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr4:81967122C>T	ENST00000282701.2	+	2	867	c.547C>T	c.(547-549)Ctg>Ttg	p.L183L		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	183					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						CCTTGGCCATCTGTCAGTGGA	0.438000													37	126					0	0	0.007835	0	0
CACNA1E	777	broad.mit.edu	37	1	181687295	181687295	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr1:181687295G>A	ENST00000526775.1	+	12	1795	c.1630G>A	c.(1630-1632)Gat>Aat	p.D544N	CACNA1E_ENST00000357570.5_Missense_Mutation_p.D495N|CACNA1E_ENST00000360108.3_Missense_Mutation_p.D544N|CACNA1E_ENST00000367573.2_Missense_Mutation_p.D544N|CACNA1E_ENST00000358338.5_Missense_Mutation_p.D495N|CACNA1E_ENST00000367570.1_Missense_Mutation_p.D544N|CACNA1E_ENST00000367567.4_Missense_Mutation_p.D151N	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	544					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			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						CAACTGCTTTGATTTTGGGGT	0.483000													8	14					0	0	0.003080	0	0
CEACAM18	729767	broad.mit.edu	37	19	51986515	51986515	+	Silent	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr19:51986515C>T	ENST00000396477.4	+	4	939	c.918C>T	c.(916-918)atC>atT	p.I306I	CEACAM18_ENST00000451626.1_Silent_p.I367I	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	367	Ig-like C2-type.					integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CACAGCTGATCATGTACATGG	0.577000													16	35					0	0	0.003163	0	0
EHHADH	1962	broad.mit.edu	37	3	184953239	184953239	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr3:184953239G>A	ENST00000231887.3	-	3	265	c.190C>T	c.(190-192)Cgt>Tgt	p.R64C	EHHADH_ENST00000456310.1_5'UTR|EHHADH_ENST00000475987.1_5'UTR	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	64	Enoyl-CoA hydratase / isomerase.					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	CTGAAGCCACGAATATCAGCA	0.418000													7	19					0	0	0.006214	0	0
ARSF	416	broad.mit.edu	37	X	3002495	3002495	+	Silent	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chrX:3002495G>A	ENST00000381127.1	+	6	839	c.618G>A	c.(616-618)ggG>ggA	p.G206G	ARSF_ENST00000537104.1_Silent_p.G206G|ARSF_ENST00000359361.2_Silent_p.G206G	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	206						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TAACCTTTGGGAAGCTGAGCG	0.547000													34	14					0	0	0.002096	0	0
ASTN1	460	broad.mit.edu	37	1	176905442	176905442	+	Silent	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr1:176905442C>T	ENST00000367654.2	-	15	2479	c.2466G>A	c.(2464-2466)gtG>gtA	p.V822V	ASTN1_ENST00000361833.2_Silent_p.V814V|ASTN1_ENST00000367657.3_Silent_p.V814V|ASTN1_ENST00000424564.2_Silent_p.V814V|ASTN1_ENST00000281881.3_5'UTR			O14525	ASTN1_HUMAN	astrotactin 1	822					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TGTGGTACATCACAGACCGGA	0.517000													4	33					0	0	0.000248	0	0
PRELID1	27166	broad.mit.edu	37	5	176731688	176731688	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr5:176731688C>T	ENST00000303204.4	+	2	367	c.155C>T	c.(154-156)tCc>tTc	p.S52F	PRELID1_ENST00000502670.1_3'UTR|PRELID1_ENST00000503216.1_Missense_Mutation_p.S52F			Q9Y255	PRLD1_HUMAN	PRELI domain containing 1	52	PRELI/MSF1.				immune response|multicellular organismal development	mitochondrion|nucleus				endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	7	all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAACTGCTGTCCCGGCGACTC	0.562000													6	14					0	0	0.001984	0	0
IFT122	55764	broad.mit.edu	37	3	129202332	129202332	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr3:129202332C>T	ENST00000296266.3	+	16	2003	c.1811C>T	c.(1810-1812)cCa>cTa	p.P604L	IFT122_ENST00000504021.1_Missense_Mutation_p.P447L|IFT122_ENST00000440957.2_Missense_Mutation_p.P344L|IFT122_ENST00000348417.2_Missense_Mutation_p.P553L|IFT122_ENST00000349441.2_Missense_Mutation_p.P442L|IFT122_ENST00000507564.1_Missense_Mutation_p.P545L|IFT122_ENST00000347300.2_Missense_Mutation_p.P494L|IFT122_ENST00000431818.2_Missense_Mutation_p.P403L	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	553					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						CCCCAGGAACCAAACGCCAAC	0.552000													13	45					0	0	0.001855	0	0
TRAV22	28661	broad.mit.edu	37	14	22538933	22538933	+	RNA	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr14:22538933G>A	ENST00000390450.3	+	0	114																											AAAATGCCCGGAGCAAGAAGG	0.512000													3	7					0	0	0.004672	0	0
STC2	8614	broad.mit.edu	37	5	172750340	172750340	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr5:172750340C>T	ENST00000265087.4	-	3	1697	c.388G>A	c.(388-390)Gaa>Aaa	p.E130K	STC2_ENST00000520593.1_5'UTR	NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	130					cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GACACCATTTCCCTGATGGCC	0.567000													6	16					0	0	0.001984	0	0
RET	5979	broad.mit.edu	37	10	43606829	43606829	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr10:43606829G>A	ENST00000355710.3	+	7	1670	c.1438G>A	c.(1438-1440)Gaa>Aaa	p.E480K	RET_ENST00000340058.5_Missense_Mutation_p.E480K	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	480					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	CAAGTGTGCCGAACTTCACTA	0.622000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				10	30					0	0	0.000978	0	0
CD1C	911	broad.mit.edu	37	1	158261016	158261016	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr1:158261016G>A	ENST00000368170.3	+	2	433	c.154G>A	c.(154-156)Gag>Aag	p.E52K		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	52					antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					ATGGCTGGACGAGTTGCAGAC	0.498000													15	50					0	0	0.004990	0	0
PCDHA1	56147	broad.mit.edu	37	5	140167763	140167763	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr5:140167763G>A	ENST00000504120.2	+	1	1888	c.1888G>A	c.(1888-1890)Gag>Aag	p.E630K	PCDHA1_ENST00000378133.3_Missense_Mutation_p.E630K|PCDHA1_ENST00000394633.3_Intron	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTACACGGGCGAGATCAGCAC	0.667000													15	48					0	0	0.004007	0	0
CCDC180	100499483	broad.mit.edu	37	9	100124121	100124121	+	Silent	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr9:100124121C>T	ENST00000375202.2	+	41	5081	c.3729C>T	c.(3727-3729)agC>agT	p.S1243S	CCDC180_ENST00000357054.1_Silent_p.S1214S|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000529487.1_Silent_p.S1243S					coiled-coil domain containing 180																		CCCAGCTGAGCCGCGTGGGGA	0.607000													6	33					0	0	0.003080	0	0
SCN5A	6331	broad.mit.edu	37	3	38646304	38646304	+	Silent	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr3:38646304C>T	ENST00000413689.1	-	11	1627	c.1434G>A	c.(1432-1434)agG>agA	p.R478R	SCN5A_ENST00000423572.2_Silent_p.R478R|SCN5A_ENST00000449557.2_Silent_p.R478R|SCN5A_ENST00000443581.1_Silent_p.R478R|SCN5A_ENST00000451551.2_Silent_p.R478R|SCN5A_ENST00000414099.2_Silent_p.R478R|SCN5A_ENST00000450102.2_Silent_p.R478R|SCN5A_ENST00000425664.1_Silent_p.R478R|SCN5A_ENST00000333535.4_Silent_p.R478R|SCN5A_ENST00000455624.2_Silent_p.R478R	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	478					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TCCGTTTTCTCCTCTTGCTTC	0.557000													9	28					0	0	0.004482	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107423285	107423285	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr2:107423285C>T	ENST00000409382.3	-	6	2049	c.1439G>A	c.(1438-1440)gGg>gAg	p.G480E	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.G480E	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	480					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GTGGTACGCCCCGAGGGTGCA	0.597000													6	37					0	0	0.001168	0	0
LRRFIP2	9209	broad.mit.edu	37	3	37136389	37136389	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr3:37136389C>T	ENST00000421307.1	-	18	1351	c.929G>A	c.(928-930)cGa>cAa	p.R310Q	LRRFIP2_ENST00000421276.2_Missense_Mutation_p.R78Q|LRRFIP2_ENST00000440230.1_Missense_Mutation_p.R78Q|LRRFIP2_ENST00000354379.4_Missense_Mutation_p.R78Q|LRRFIP2_ENST00000396428.2_Missense_Mutation_p.R150Q|LRRFIP2_ENST00000336686.4_Missense_Mutation_p.R310Q	NM_006309.2	NP_006300.1	Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	310	DVL3-binding.|Ser-rich.				Wnt receptor signaling pathway		LRR domain binding	p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						GGCAGAATTTCGAGATGAAGG	0.433000													13	51					0	0	0.004007	0	0
EXOC2	55770	broad.mit.edu	37	6	619506	619506	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr6:619506G>A	ENST00000230449.4	-	5	595	c.460C>T	c.(460-462)Cat>Tat	p.H154Y	EXOC2_ENST00000448181.3_Intron	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	154					exocytosis|protein transport					breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		CTCATTCCATGGAATAGCATT	0.353000													11	43					0	0	0.000978	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1643049	1643049	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr11:1643049A>C	ENST00000399682.1	-	1	319	c.275T>G	c.(274-276)gTc>gGc	p.V92G		NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	92	9 X 4 AA repeats of C-C-X-P.					keratin filament		p.V92G(2)		NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCACAGGAGACACAGCCCCC	0.682000													4	47					0	0	0.004482	0	0
GAD1	2571	broad.mit.edu	37	2	171702018	171702018	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr2:171702018G>T	ENST00000358196.3	+	8	1304	c.754G>T	c.(754-756)Ggc>Tgc	p.G252C		NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	252					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GCTGACAGGGGGCGCCATATC	0.507000													15	42					1.99824e-07	3.63094e-07	0.004990	1	0
RPL27	6155	broad.mit.edu	37	17	41151974	41151974	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr17:41151974C>T	ENST00000589913.1	+	2	380	c.106C>T	c.(106-108)Cgc>Tgc	p.R36C	RPL27_ENST00000590864.1_5'UTR|RPL27_ENST00000589037.1_Missense_Mutation_p.R36C|RPL27_ENST00000253788.5_Missense_Mutation_p.R36C			P61353	RL27_HUMAN	ribosomal protein L27	36	KOW.				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	structural constituent of ribosome			cervix(1)|endometrium(1)|kidney(1)	3		Breast(137;0.000717)|Ovarian(249;0.0776)		BRCA - Breast invasive adenocarcinoma(366;0.157)		CACCTCAGATCGCCCCTACAG	0.478000													10	52					0	0	0.001368	0	0
POSTN	10631	broad.mit.edu	37	13	38143519	38143519	+	Splice_Site	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr13:38143519C>T	ENST00000379747.4	-	21	2466	c.2347_splice	c.e21-1	p.E783_splice	POSTN_ENST00000379749.4_Intron|POSTN_ENST00000379743.4_Splice_Site_p.E756_splice|POSTN_ENST00000497145.1_5'UTR|POSTN_ENST00000541179.1_Intron|POSTN_ENST00000379742.4_Splice_Site_p.E726_splice|POSTN_ENST00000541481.1_Splice_Site_p.E696_splice	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	783					cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CCTTGGTGACCTCTGAGAGGA	0.343000													4	29					0	0	0.000248	0	0
PDE4A	5141	broad.mit.edu	37	19	10528340	10528340	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr19:10528340C>T	ENST00000380702.2	+	2	53	c.53C>T	c.(52-54)tCg>tTg	p.S18L	PDE4A_ENST00000592685.1_Missense_Mutation_p.S18L			P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	0					signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	CCCCAGAGGTCGAGGGAGACC	0.677000											OREG0025236	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	9					0	0	0.003080	0	0
SCAND3	114821	broad.mit.edu	37	6	28554098	28554098	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr6:28554098C>T	ENST00000452236.2	-	1	1014	c.397G>A	c.(397-399)Gag>Aag	p.E133K	SCAND3_ENST00000530247.1_Intron	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	133	SCAN box.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TCATCAAGCTCCCTCTCCAAA	0.507000													47	170					0	0	0.003610	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995915	140995915	+	Translation_Start_Site	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chrX:140995915G>A	ENST00000406005.2	+	0	299				MAGEC1_ENST00000285879.4_Missense_Mutation_p.D909N			O60732	MAGC1_HUMAN	melanoma antigen family C, 1								protein binding	p.D909N(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTATACACTGGATGAAAAGGT	0.463000										HNSCC(15;0.026)			104	54					0	0	0.003610	0	0
SMARCB1	6598	broad.mit.edu	37	22	24143200	24143200	+	Silent	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr22:24143200C>T	ENST00000344921.6	+	4	612	c.405C>T	c.(403-405)gcC>gcT	p.A135A	SMARCB1_ENST00000407082.3_Intron|SMARCB1_ENST00000407422.3_Silent_p.A135A|SMARCB1_ENST00000263121.7_Silent_p.A144A			Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	144	DNA-binding (Potential).				cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	p.?(5)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				ACTTAGATGCCGTGCCATGCT	0.572000			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid							10	27					0	0	0.006214	0	0
LUM	4060	broad.mit.edu	37	12	91502687	91502687	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr12:91502687C>T	ENST00000266718.4	-	2	524	c.70G>A	c.(70-72)Gat>Aat	p.D24N	LUM_ENST00000548071.1_Intron	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	24					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						AGGGGAAAATCATAATCATAG	0.413000													8	20					0	0	0.004482	0	0
COL12A1	1303	broad.mit.edu	37	6	75884849	75884849	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr6:75884849C>T	ENST00000322507.8	-	13	2924	c.2615G>A	c.(2614-2616)gGa>gAa	p.G872E	COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Missense_Mutation_p.G872E|COL12A1_ENST00000416123.2_Missense_Mutation_p.G872E	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	872	Fibronectin type-III 5.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TTCCTTCAATCCCTGCAGCAC	0.502000													23	88					0	0	0.003330	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45127107	45127107	+	RNA	SNP	C	C	G	rs147409399	by1000genomes	TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr17:45127107C>G	ENST00000575173.1	-	0	418																											CCTTCGTTCACCCAAGAGCAT	0.592000													3	58					0	0	0.004672	0	0
MPP6	51678	broad.mit.edu	37	7	24690159	24690159	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr7:24690159G>A	ENST00000396475.2	+	6	778	c.479G>A	c.(478-480)gGg>gAg	p.G160E	MPP6_ENST00000222644.4_Missense_Mutation_p.G160E|MPP6_ENST00000409761.1_Missense_Mutation_p.G48E	NM_016447.2	NP_057531.2	Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	160	PDZ.				protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						ATCCTCCATGGGGGAATGATA	0.353000													22	37					0	0	0.003330	0	0
SLC30A10	55532	broad.mit.edu	37	1	220088945	220088945	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr1:220088945G>A	ENST00000366926.3	-	4	1465	c.1304C>T	c.(1303-1305)cCc>cTc	p.P435L	SLC30A10_ENST00000536446.1_Missense_Mutation_p.P190L|SLC30A10_ENST00000484079.1_5'UTR	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	435					zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		GTCTAGAGAGGGCCCACCATT	0.552000													16	49					0	0	0.004990	0	0
OR10G3	26533	broad.mit.edu	37	14	22038677	22038677	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr14:22038677G>A	ENST00000303532.1	-	1	198	c.199C>T	c.(199-201)Ctc>Ttc	p.L67F		NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN	olfactory receptor, family 10, subfamily G, member 3	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		ATGACTGAGAGAACACCAAGA	0.483000													6	27					0	0	0.001168	0	0
CMYA5	202333	broad.mit.edu	37	5	79095423	79095423	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr5:79095423C>T	ENST00000446378.2	+	13	12225	c.12194C>T	c.(12193-12195)tCt>tTt	p.S4065F	CTC-431G16.2_ENST00000421252.2_RNA	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	4065	B30.2/SPRY.					perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CCCCCGGATTCTGTAAGGCAC	0.468000													7	11					0	0	0.003080	0	0
GPR98	84059	broad.mit.edu	37	5	89924433	89924433	+	Silent	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr5:89924433G>A	ENST00000405460.2	+	8	1389	c.1293G>A	c.(1291-1293)gcG>gcA	p.A431A		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	431					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATGTCTCTGCGAATTGGGTGT	0.418000													25	41					0	0	0.006320	0	0
PCDHGA9	56107	broad.mit.edu	37	5	140782574	140782574	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr5:140782574C>T	ENST00000573521.1	+	1	55	c.55C>T	c.(55-57)Ctc>Ttc	p.L19F	PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_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)			GCTATGCTCGCTCCTGGGGAT	0.537000													9	20					0	0	0.006214	0	0
TROAP	10024	broad.mit.edu	37	12	49724790	49724790	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr12:49724790C>T	ENST00000551245.1	+	13	2273	c.2162C>T	c.(2161-2163)aCc>aTc	p.T721I	TROAP_ENST00000257909.3_Intron|TROAP_ENST00000547923.1_Intron			Q12815	TROAP_HUMAN	trophinin associated protein	738					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						GAGCTGCACACCTGCCCTGCC	0.617000													6	25					0	0	0.001168	0	0
HOXB1	3211	broad.mit.edu	37	17	46607774	46607774	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr17:46607774C>T	ENST00000239174.6	-	1	585	c.493G>A	c.(493-495)Gaa>Aaa	p.E165K	HOXB1_ENST00000577092.1_Missense_Mutation_p.E165K	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	165						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CAGGGTGTTTCCTTGTCCTCG	0.597000													10	25					0	0	0.000978	0	0
TEP1	7011	broad.mit.edu	37	14	20851800	20851800	+	Silent	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr14:20851800G>A	ENST00000262715.5	-	26	3754	c.3714C>T	c.(3712-3714)agC>agT	p.S1238S	TEP1_ENST00000556935.1_Silent_p.S1130S	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1238	NACHT.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CCCACACCAGGCTTCTGTACA	0.572000													6	22					0	0	0.003080	0	0
MAB21L1	4081	broad.mit.edu	37	13	36050146	36050146	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr13:36050146C>T	ENST00000379919.4	-	1	686	c.130G>A	c.(130-132)Gaa>Aaa	p.E44K	NBEA_ENST00000379939.2_Intron|NBEA_ENST00000310336.4_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000540320.1_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	44					anatomical structure morphogenesis	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		ACTTCCACTTCCTTCAGTACG	0.502000													18	71					0	0	0.008871	0	0
PRRG3	79057	broad.mit.edu	37	X	150869197	150869197	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chrX:150869197C>T	ENST00000370353.3	+	4	778	c.388C>T	c.(388-390)Ccc>Tcc	p.P130S	PRRG3_ENST00000538575.1_Missense_Mutation_p.P130S			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	130						extracellular region|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					GCACACCCTCCCCCGGGTCAT	0.652000													49	22					0	0	0.003610	0	0
FCRL5	83416	broad.mit.edu	37	1	157516930	157516930	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr1:157516930C>T	ENST00000361835.3	-	3	267	c.110G>A	c.(109-111)gGa>gAa	p.G37E	FCRL5_ENST00000356953.4_Missense_Mutation_p.G37E|FCRL5_ENST00000368190.3_Missense_Mutation_p.G37E|FCRL5_ENST00000368189.3_Missense_Mutation_p.G37E|FCRL5_ENST00000368191.3_Intron|FCRL5_ENST00000368188.2_Missense_Mutation_p.G37E	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	37	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CACTCTCTCTCCTTGGAAGAC	0.498000													26	80					0	0	0.006320	0	0
HNF1B	6928	broad.mit.edu	37	17	36091630	36091630	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr17:36091630G>A	ENST00000225893.4	-	4	1362	c.1001C>T	c.(1000-1002)tCc>tTc	p.S334F	HNF1B_ENST00000427275.2_Missense_Mutation_p.S308F|HNF1B_ENST00000561193.1_Missense_Mutation_p.S308F|HNF1B_ENST00000560016.1_Missense_Mutation_p.S334F	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	334					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GTGGTGGGGGGAGCCGTGGGA	0.602000													90	313					0	0	0.003610	0	0
PLXNA4	91584	broad.mit.edu	37	7	132174134	132174134	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr7:132174134C>T	ENST00000359827.3	-	3	2250	c.1288G>A	c.(1288-1290)Gac>Aac	p.D430N	PLXNA4_ENST00000378539.5_Missense_Mutation_p.D430N|PLXNA4_ENST00000321063.4_Missense_Mutation_p.D430N|PLXNA4_ENST00000423507.2_Missense_Mutation_p.D430N			Q9HCM2	PLXA4_HUMAN	plexin A4	430	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GTCATGCGGTCCCTGTCCTCC	0.532000													27	30					0	0	0.004656	0	0
ZFR	51663	broad.mit.edu	37	5	32355973	32355973	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr5:32355973G>C	ENST00000265069.8	-	20	3220	c.3118C>G	c.(3118-3120)Caa>Gaa	p.Q1040E	ZFR_ENST00000510369.1_5'UTR	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	1040					multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		TTAAAACGTTGGCTCATTTGC	0.398000													34	83					0	0	0.002836	0	0
GPATCH8	23131	broad.mit.edu	37	17	42512489	42512489	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr17:42512489G>A	ENST00000434000.1	-	6	340	c.58C>T	c.(58-60)Cgc>Tgc	p.R20C	GPATCH8_ENST00000591680.1_Missense_Mutation_p.R98C|GPATCH8_ENST00000586265.1_5'UTR			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	98						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		AGGACACGGCGCCGTTCGGTA	0.383000													16	37					0	0	0.004990	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713854	142713854	+	RNA	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr1:142713854C>T	ENST00000369381.2	-	0	751																											TCCATCAGATCTTTCATTTCT	0.279000													8	39					0	0	0.003080	0	0
ACE	1636	broad.mit.edu	37	17	61558977	61558977	+	Silent	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr17:61558977C>T	ENST00000290866.4	+	7	1020	c.996C>T	c.(994-996)tcC>tcT	p.S332S	ACE_ENST00000538928.1_Silent_p.S332S|ACE_ENST00000584529.1_3'UTR|ACE_ENST00000428043.1_Silent_p.S332S	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	332	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	TCTTCACCTCCCTGGAGCTCT	0.677000													10	28					0	0	0.001368	0	0
FCAR	2204	broad.mit.edu	37	19	55396704	55396704	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr19:55396704G>A	ENST00000355524.3	+	3	138	c.128G>A	c.(127-129)gGa>gAa	p.G43E	FCAR_ENST00000359272.4_Missense_Mutation_p.G31E|FCAR_ENST00000391723.3_Missense_Mutation_p.G31E|FCAR_ENST00000353758.4_Intron|FCAR_ENST00000391725.3_Missense_Mutation_p.G43E|FCAR_ENST00000391726.3_Missense_Mutation_p.G31E|FCAR_ENST00000345937.4_Missense_Mutation_p.G43E|FCAR_ENST00000391724.3_Missense_Mutation_p.G31E|FCAR_ENST00000469767.1_Missense_Mutation_p.G43E|FCAR_ENST00000482092.2_3'UTR	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	43	Ig-like C2-type 1.				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		CCCTTGGATGGATCTGTGAAA	0.502000													5	33					0	0	0.000602	0	0
STAB1	23166	broad.mit.edu	37	3	52550415	52550415	+	Silent	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr3:52550415G>A	ENST00000321725.6	+	39	4264	c.4188G>A	c.(4186-4188)ggG>ggA	p.G1396G		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1396					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GGCTGCAAGGGGACGGAAGCT	0.632000													13	55					0	0	0.001855	0	0
TTN	7273	broad.mit.edu	37	2	179594171	179594171	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr2:179594171C>T	ENST00000589042.1	-	64	18936	c.18712G>A	c.(18712-18714)Gaa>Aaa	p.E6238K	TTN_ENST00000342992.6_Missense_Mutation_p.E4994K|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E5921K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5921	Ig-like 43.						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)			CTTCGAATTTCCCTGTTATTC	0.458000													29	55					0	0	0.001786	0	0
ZSCAN12	9753	broad.mit.edu	37	6	28365849	28365849	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr6:28365849C>T	ENST00000361028.1	-	2	479	c.334G>A	c.(334-336)Gag>Aag	p.E112K	ZSCAN12_ENST00000396827.3_Missense_Mutation_p.E112K					zinc finger and SCAN domain containing 12											breast(2)|endometrium(3)|urinary_tract(1)	6						TCCCCACTCTCTGGATGCTGC	0.542000													7	20					0	0	0.004482	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				28	40					0	0	0.007291	0	0
BEND4	389206	broad.mit.edu	37	4	42122103	42122103	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr4:42122103G>A	ENST00000502486.1	-	5	1934	c.1355C>T	c.(1354-1356)cCt>cTt	p.P452L	BEND4_ENST00000504360.1_Intron	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	452	BEN.									NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						TGGATCCAGAGGGCGTCTTTC	0.507000													9	23					0	0	0.008291	0	0
RNF113B	140432	broad.mit.edu	37	13	98829441	98829441	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr13:98829441A>G	ENST00000267291.6	-	1	78	c.50T>C	c.(49-51)gTa>gCa	p.V17A	FARP1_ENST00000595437.1_Intron|FARP1_ENST00000319562.6_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000376581.5_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	17							nucleic acid binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			GAAGGTGCATACCTGGTCTGC	0.652000													5	28					0	0	0.001168	0	0
ATXN2	6311	broad.mit.edu	37	12	111951235	111951235	+	Missense_Mutation	SNP	G	G	A	rs145598979		TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr12:111951235G>A	ENST00000377617.3	-	11	2125	c.1964C>T	c.(1963-1965)cCc>cTc	p.P655L	ATXN2_ENST00000542287.2_Missense_Mutation_p.P390L|ATXN2_ENST00000535949.1_Missense_Mutation_p.P366L|ATXN2_ENST00000389153.4_Missense_Mutation_p.P390L|ATXN2_ENST00000550104.1_Missense_Mutation_p.P655L	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	655	Pro-rich.				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						TGCTTCACTGGGTGGGTTGTG	0.547000													12	32					0	0	0.001855	0	0
PSEN1	5663	broad.mit.edu	37	14	73637678	73637678	+	Silent	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr14:73637678C>T	ENST00000324501.5	+	4	533	c.261C>T	c.(259-261)gtC>gtT	p.V87V	PSEN1_ENST00000394164.1_Silent_p.V83V|PSEN1_ENST00000406768.1_5'UTR|PSEN1_ENST00000357710.4_Silent_p.V83V|PSEN1_ENST00000344094.3_Silent_p.V87V|PSEN1_ENST00000261970.3_Silent_p.V87V|PSEN1_ENST00000557511.1_Silent_p.V87V|PSEN1_ENST00000394157.3_Silent_p.V87V	NM_000021.3|NM_007318.2	NP_000012.1|NP_015557.2	P49768	PSN1_HUMAN	presenilin 1	87					amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc	aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		TGCTCTTTGTCCCTGTGACTC	0.498000													10	23					0	0	0.008291	0	0
APOBEC1	339	broad.mit.edu	37	12	7805350	7805350	+	Silent	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr12:7805350G>A	ENST00000229304.4	-	3	146	c.126C>T	c.(124-126)atC>atT	p.I42I		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	42					cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						TGCCCCACTTGATTTCGTAGA	0.438000													7	34					0	0	0.003080	0	0
GPR112	139378	broad.mit.edu	37	X	135430935	135430935	+	Silent	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chrX:135430935C>T	ENST00000394143.1	+	6	5361	c.5070C>T	c.(5068-5070)tcC>tcT	p.S1690S	GPR112_ENST00000412101.1_Silent_p.S1485S|GPR112_ENST00000394141.1_Silent_p.S1485S|GPR112_ENST00000370652.1_Silent_p.S1690S|GPR112_ENST00000287534.4_Silent_p.S1627S	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1690					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CTATTTCCTCCATTCCAAAGA	0.448000													57	38					0	0	0.003610	0	0
CCDC102B	79839	broad.mit.edu	37	18	66678264	66678264	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr18:66678264C>T	ENST00000360242.5	+	7	1474	c.1357C>T	c.(1357-1359)Caa>Taa	p.Q453*	CCDC102B_ENST00000319445.6_Nonsense_Mutation_p.Q453*|CCDC102B_ENST00000584156.1_Nonsense_Mutation_p.Q453*	NM_024781.2	NP_079057.2	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	453										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				CCGAGTGGATCAAAATGAAGC	0.373000													8	22					0	0	0.000978	0	0
TTN	7273	broad.mit.edu	37	2	179485033	179485033	+	Silent	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr2:179485033G>A	ENST00000589042.1	-	248	46439	c.46215C>T	c.(46213-46215)ttC>ttT	p.F15405F	TTN_ENST00000342992.6_Silent_p.F12837F|TTN_ENST00000342175.6_Silent_p.F6532F|TTN_ENST00000359218.5_Silent_p.F6465F|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.F13764F|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Silent_p.F6340F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13764							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)			CAGCGTCATCGAACTCAGTGA	0.438000													19	80					0	0	0.006122	0	0
OR5P2	120065	broad.mit.edu	37	11	7818403	7818403	+	Silent	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr11:7818403G>A	ENST00000329434.2	-	1	117	c.87C>T	c.(85-87)atC>atT	p.I29I	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCATGAAGAGGATGACTCGAA	0.433000													10	34					0	0	0.000978	0	0
ELMO1	9844	broad.mit.edu	37	7	37382254	37382254	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr7:37382254C>T	ENST00000310758.4	-	2	688	c.41G>A	c.(40-42)tGg>tAg	p.W14*	ELMO1_ENST00000448602.1_Nonsense_Mutation_p.W14*|ELMO1_ENST00000442504.1_Nonsense_Mutation_p.W14*	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	14					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GGCGCCCGGCCATTCTATGGC	0.483000													59	119					0	0	0.003610	0	0
SCNN1G	6340	broad.mit.edu	37	16	23200933	23200933	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr16:23200933A>C	ENST00000300061.2	+	3	702	c.559A>C	c.(559-561)Att>Ctt	p.I187L		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	187					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	CGGTAGCATCATTCACAAGGC	0.502000													41	121					0	0	0.003610	0	0
CLVS2	134829	broad.mit.edu	37	6	123369783	123369783	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr6:123369783G>A	ENST00000275162.4	+	4	1916	c.581G>A	c.(580-582)cGa>cAa	p.R194Q	CLVS2_ENST00000368438.1_Missense_Mutation_p.R48Q	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	194	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						TTCCCAGCGCGATTTGGAGGA	0.388000													32	78					0	0	0.003271	0	0
IL27RA	9466	broad.mit.edu	37	19	14150436	14150436	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr19:14150436A>G	ENST00000263379.2	+	3	460	c.335A>G	c.(334-336)cAg>cGg	p.Q112R		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	112					cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						AAGGCAGGCCAGCCTCTCTGG	0.627000													13	37					0	0	0.002450	0	0
IGHV1OR15-9	390531	broad.mit.edu	37	15	20170095	20170095	+	RNA	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr15:20170095G>A	ENST00000338912.5	-	0	176																											CTTGTGCATGGGCCTGGCACA	0.567000													14	43					0	0	0.001855	0	0
OR5D13	390142	broad.mit.edu	37	11	55540935	55540935	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr11:55540935C>T	ENST00000361760.1	+	1	22	c.22C>T	c.(22-24)Caa>Taa	p.Q8*		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TGAAAGAAATCAAAGCAGCAC	0.378000													15	60					0	0	0.003163	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77401460	77401460	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr16:77401460C>T	ENST00000282849.5	-	4	1074	c.656G>A	c.(655-657)gGc>gAc	p.G219D	ADAMTS18_ENST00000567121.1_5'UTR	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	219					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G219V(1)|p.G216_G219del(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CCGGCCAGAGCCGGGGTAGCC	0.547000													10	40					0	0	0.001368	0	0
KRT75	9119	broad.mit.edu	37	12	52826938	52826938	+	Silent	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr12:52826938G>A	ENST00000252245.5	-	2	817	c.597C>T	c.(595-597)ctC>ctT	p.L199L		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	199	Linker 1.|Rod.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		AGGAATCAAAGAGGGGCTCTA	0.577000													19	58					0	0	0.001882	0	0
ANXA10	11199	broad.mit.edu	37	4	169099096	169099096	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr4:169099096T>G	ENST00000359299.3	+	8	776	c.590T>G	c.(589-591)aTg>aGg	p.M197R		NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN	annexin A10	197							calcium ion binding|calcium-dependent phospholipid binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		ATGCTGCAAATGATCCTGTGC	0.483000													15	42					0	0	0.004990	0	0
GUCY2C	2984	broad.mit.edu	37	12	14804923	14804923	+	Silent	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr12:14804923G>A	ENST00000261170.3	-	14	1711	c.1575C>T	c.(1573-1575)ttC>ttT	p.F525F		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	525	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						GTTTTTCAGTGAAATTACCAT	0.363000													13	32					0	0	0.004990	0	0
PCDHA13	56136	broad.mit.edu	37	5	140264037	140264037	+	Silent	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr5:140264037C>T	ENST00000289272.2	+	1	2184	c.2184C>T	c.(2182-2184)acC>acT	p.T728T	PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.T728T|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCGCCCACCGAGGGCGCGT	0.647000													17	67					0	0	0.006122	0	0
DNAH8	1769	broad.mit.edu	37	6	38879243	38879243	+	Splice_Site	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr6:38879243G>A	ENST00000359357.3	+	64	9343		c.e64-1		DNAH8_ENST00000441566.1_Splice_Site|DNAH8_ENST00000449981.2_Splice_Site					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TCTGCTTTCAGATACCGCCGA	0.373000													26	56					0	0	0.007291	0	0
ITGB8	3696	broad.mit.edu	37	7	20445781	20445781	+	Silent	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr7:20445781C>T	ENST00000222573.3	+	12	2694	c.2010C>T	c.(2008-2010)gtC>gtT	p.V670V	ITGB8_ENST00000537992.1_Silent_p.V535V	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	670					cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						AGCATTATGTCGACCAAACTT	0.423000													23	27					0	0	0.002780	0	0
OR1F1	4992	broad.mit.edu	37	16	3255038	3255038	+	Silent	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr16:3255038C>T	ENST00000304646.2	+	1	792	c.792C>T	c.(790-792)tcC>tcT	p.S264S	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						ACCCTCTGTCCTCCCACTCAG	0.483000													26	97					0	0	0.007291	0	0
GREB1	9687	broad.mit.edu	37	2	11696826	11696826	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr2:11696826A>G	ENST00000381486.2	+	2	386	c.86A>G	c.(85-87)aAc>aGc	p.N29S	GREB1_ENST00000234142.5_Missense_Mutation_p.N29S|GREB1_ENST00000381483.2_Missense_Mutation_p.N29S|GREB1_ENST00000389825.3_Intron|GREB1_ENST00000263834.5_Missense_Mutation_p.N29S	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	29						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CTGCGGTCCAACAACCTGGTG	0.537000													9	42					0	0	0.004482	0	0
LPAR4	2846	broad.mit.edu	37	X	78010772	78010772	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chrX:78010772C>T	ENST00000435339.2	+	2	811	c.406C>T	c.(406-408)Cgt>Tgt	p.R136C	LPAR4_ENST00000373301.2_Missense_Mutation_p.R136C	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	136						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TAGTGTGGATCGTTTCCTGGC	0.483000													52	30					0	0	0.003610	0	0
DLK2	65989	broad.mit.edu	37	6	43418701	43418701	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr6:43418701C>T	ENST00000357338.3	-	6	1428	c.728G>A	c.(727-729)gGt>gAt	p.G243D	DLK2_ENST00000372485.1_Missense_Mutation_p.G237D|DLK2_ENST00000372488.3_Missense_Mutation_p.G243D|DLK2_ENST00000414245.1_Missense_Mutation_p.G237D	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	delta-like 2 homolog (Drosophila)	243	EGF-like 6; calcium-binding (Potential).					integral to membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GGTCTTGCCACCATAGCCACT	0.637000													14	65					0	0	0.003163	0	0
OR1D2	4991	broad.mit.edu	37	17	2996152	2996152	+	Silent	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr17:2996152G>A	ENST00000331459.1	-	1	138	c.139C>T	c.(139-141)Ctg>Ttg	p.L47L		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	47					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						CTGATGGCCAGGATGATGAGC	0.547000													22	103					0	0	0.002299	0	0
CSMD3	114788	broad.mit.edu	37	8	113323359	113323359	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr8:113323359C>T	ENST00000297405.5	-	50	7977	c.7733G>A	c.(7732-7734)gGa>gAa	p.G2578E	CSMD3_ENST00000343508.3_Missense_Mutation_p.G2538E|CSMD3_ENST00000352409.3_Missense_Mutation_p.G2508E|CSMD3_ENST00000455883.2_Missense_Mutation_p.G2474E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2578	Sushi 14.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GATAATATATCCATGAGGTGG	0.408000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			10	35					0	0	0.008291	0	0
HELZ	9931	broad.mit.edu	37	17	65105774	65105774	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr17:65105774C>T	ENST00000358691.5	-	29	4113	c.3947G>A	c.(3946-3948)aGa>aAa	p.R1316K	HELZ_ENST00000580168.1_Missense_Mutation_p.R1317K	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TTCAGGACTTCTGTTCTGTGG	0.408000													24	57					0	0	0.008361	0	0
LILRA1	11024	broad.mit.edu	37	19	55106622	55106622	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr19:55106622G>A	ENST00000453777.1	+	5	586	c.416G>A	c.(415-417)gGg>gAg	p.G139E	LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000251372.3_Missense_Mutation_p.G139E|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000473156.1_3'UTR	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	139	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		ACCTCAGGAGGGAACGTGACC	0.542000													20	62					0	0	0.001523	0	0
AGO2	27161	broad.mit.edu	37	8	141542233	141542233	+	Silent	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr8:141542233G>A	ENST00000220592.5	-	19	2602	c.2490C>T	c.(2488-2490)acC>acT	p.T830T	AGO2_ENST00000519980.1_Silent_p.T796T	NM_012154.3	NP_036286.2			argonaute RISC catalytic component 2																		TCTGCCCAGAGGTATGGCTTC	0.532000													31	204					0	0	0.003271	0	0
OGG1	4968	broad.mit.edu	37	3	9798815	9798815	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr3:9798815C>T	ENST00000344629.7	+	7	1362	c.1019C>T	c.(1018-1020)tCc>tTc	p.S340F	OGG1_ENST00000302003.7_Missense_Mutation_p.P346S|OGG1_ENST00000349503.5_Intron|OGG1_ENST00000449570.2_Intron|OGG1_ENST00000339511.5_3'UTR|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000302036.7_Intron			O15527	OGG1_HUMAN	8-oxoguanine DNA glycosylase	340					depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation	mitochondrion|nuclear matrix|nuclear speck	damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding			kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					AGAAAGGGTTCCAAAGGGCCG	0.607000								Base excision repair (BER), DNA glycosylases					13	38					0	0	0.001368	0	0
ZNF207	7756	broad.mit.edu	37	17	30692381	30692381	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr17:30692381C>T	ENST00000394670.4	+	8	872	c.703C>T	c.(703-705)Cct>Tct	p.P235S	ZNF207_ENST00000394673.2_Missense_Mutation_p.P235S|ZNF207_ENST00000341711.6_Missense_Mutation_p.P136S|ZNF207_ENST00000577908.1_Missense_Mutation_p.P235S|ZNF207_ENST00000321233.6_Missense_Mutation_p.P219S|ZNF207_ENST00000342555.6_Missense_Mutation_p.P238S	NM_001098507.1	NP_001091977.1	O43670	ZN207_HUMAN	zinc finger protein 207	219						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			TCCTGGAATTCCTCCAATGAC	0.468000													14	45					0	0	0.002450	0	0
ALOX12	239	broad.mit.edu	37	17	6913326	6913326	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr17:6913326C>A	ENST00000251535.6	+	13	1746	c.1693C>A	c.(1693-1695)Cca>Aca	p.P565T	AC027763.2_ENST00000574377.1_Intron|AC027763.2_ENST00000573939.1_Intron|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000399540.2_Intron|AC027763.2_ENST00000399541.2_Intron|AC027763.2_ENST00000575727.1_Intron	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	565	Lipoxygenase.				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						GCGGATGCCCCCACCCACCAC	0.547000													14	30					1.49906e-05	2.71287e-05	0.002450	1	0
OR4E2	26686	broad.mit.edu	37	14	22133748	22133748	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr14:22133748G>A	ENST00000408935.1	+	1	452	c.452G>A	c.(451-453)gGg>gAg	p.G151E		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		CTCTGGTTGGGGGGTACTGTT	0.483000													21	67					0	0	0.003330	0	0
SNTG1	54212	broad.mit.edu	37	8	51621528	51621528	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr8:51621528C>T	ENST00000522124.1	+	17	1935	c.1274C>T	c.(1273-1275)gCt>gTt	p.A425V	SNTG1_ENST00000517473.1_Missense_Mutation_p.A425V|SNTG1_ENST00000518864.1_Missense_Mutation_p.A425V|SNTG1_ENST00000276467.5_Missense_Mutation_p.A425V	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	425					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TGCTTTGATGCTGCAACAAAG	0.378000													8	42					0	0	0.008291	0	0
OR51Q1	390061	broad.mit.edu	37	11	5444160	5444160	+	Silent	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr11:5444160C>T	ENST00000300778.4	+	1	820	c.730C>T	c.(730-732)Ctg>Ttg	p.L244L	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAATAACTGCCTGTCCCACAT	0.498000													20	65					0	0	0.001882	0	0
OR4K5	79317	broad.mit.edu	37	14	20389538	20389538	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr14:20389538A>T	ENST00000315915.4	+	1	798	c.773A>T	c.(772-774)tAt>tTt	p.Y258F		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATCTTCATCTATGTGTGGCCC	0.403000													28	173					0	0	0.007291	0	0
IGHG4	3503	broad.mit.edu	37	14	106092213	106092213	+	RNA	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr14:106092213G>A	ENST00000390543.2	-	0	190																											GCTGCTGAGGGAGTAGAGTCC	0.612000													13	57					0	0	0.002450	0	0
MLF1	4291	broad.mit.edu	37	3	158317946	158317946	+	Silent	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr3:158317946C>T	ENST00000359117.5	+	5	713	c.477C>T	c.(475-477)ttC>ttT	p.F159F	MLF1_ENST00000497004.1_3'UTR|MLF1_ENST00000484955.1_Silent_p.F159F|MLF1_ENST00000482628.1_Silent_p.F159F|MLF1_ENST00000478894.2_Silent_p.F174F|MLF1_ENST00000471745.1_Silent_p.F174F|MLF1_ENST00000469452.1_Silent_p.F116F|MLF1_ENST00000392822.3_Silent_p.F215F|MLF1_ENST00000355893.5_Silent_p.F184F	NM_001130156.2	NP_001123628.1	P58340	MLF1_HUMAN	myeloid leukemia factor 1	184					cell cycle arrest|myeloid progenitor cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein domain specific binding			large_intestine(3)	3		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)			ACCAGGAGTTCATCAATATGA	0.299000			T	NPM1	AML								18	74					0	0	0.002780	0	0
CNTN6	27255	broad.mit.edu	37	3	1269596	1269596	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr3:1269596C>T	ENST00000446702.2	+	4	904	c.277C>T	c.(277-279)Caa>Taa	p.Q93*	CNTN6_ENST00000350110.2_Nonsense_Mutation_p.Q93*|CNTN6_ENST00000539053.1_Nonsense_Mutation_p.Q21*			Q9UQ52	CNTN6_HUMAN	contactin 6	93	Ig-like C2-type 1.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CCACACAGATCAAGATATTGG	0.448000													23	64					0	0	0.002780	0	0
ETV6	2120	broad.mit.edu	37	12	12022745	12022745	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr12:12022745C>T	ENST00000396373.4	+	5	1125	c.851C>T	c.(850-852)tCc>tTc	p.S284F		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	284						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				CCCCGGCACTCCGTGGATTTC	0.612000			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""								8	39					0	0	0.004482	0	0
CFHR4	10877	broad.mit.edu	37	1	196874358	196874358	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr1:196874358G>A	ENST00000367416.2	+	3	511	c.374G>A	c.(373-375)gGa>gAa	p.G125E	CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000251424.4_Intron|CFHR4_ENST00000367418.1_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						ACAGCAGAGGGAAATTCTTCA	0.313000													12	48					0	0	0.001368	0	0
SNHG14	104472715	broad.mit.edu	37	15	25427583	25427583	+	RNA	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr15:25427583C>T	ENST00000424208.1	+	0	272				SNHG14_ENST00000365306.1_RNA	NR_003305.1																						ACTTAAAAATCATGCTCAATA	0.522000													25	130					0	0	0.006320	0	0
NTNG1	22854	broad.mit.edu	37	1	107691307	107691307	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr1:107691307A>G	ENST00000370067.1	+	2	719	c.92A>G	c.(91-93)gAt>gGt	p.D31G	NTNG1_ENST00000370065.1_Missense_Mutation_p.D31G|NTNG1_ENST00000542803.1_Missense_Mutation_p.D31G|NTNG1_ENST00000370066.1_Missense_Mutation_p.D31G|NTNG1_ENST00000370073.2_Missense_Mutation_p.D31G|NTNG1_ENST00000370068.1_Missense_Mutation_p.D31G|NTNG1_ENST00000370061.3_Missense_Mutation_p.D31G|NTNG1_ENST00000370071.2_Missense_Mutation_p.D31G|NTNG1_ENST00000370070.2_Missense_Mutation_p.D31G|NTNG1_ENST00000370072.3_Missense_Mutation_p.D31G|NTNG1_ENST00000370074.4_Missense_Mutation_p.D31G			Q9Y2I2	NTNG1_HUMAN	netrin G1	31					axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		GGACATTATGATTTGTGTAAG	0.438000													20	67					0	0	0.008871	0	0
CEP89	84902	broad.mit.edu	37	19	33406376	33406376	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr19:33406376C>T	ENST00000305768.4	-	14	1520	c.1432G>A	c.(1432-1434)Ggc>Agc	p.G478S		NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	478						centrosome|spindle pole				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						TTTTCCTGGCCGTGGGTTTTT	0.453000													7	28					0	0	0.006214	0	0
OR6V1	346517	broad.mit.edu	37	7	142749462	142749462	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr7:142749462G>A	ENST00000418316.1	+	1	46	c.25G>A	c.(25-27)Gaa>Aaa	p.E9K		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					CCAGCCCTCCGAATTTGTCCT	0.517000													31	138					0	0	0.004289	0	0
SPATA16	83893	broad.mit.edu	37	3	172607390	172607390	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr3:172607390C>T	ENST00000351008.3	-	11	1863	c.1680G>A	c.(1678-1680)atG>atA	p.M560I		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	560					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			GAAGTCGCTTCATTTTTGTTT	0.403000													34	139					0	0	0.005524	0	0
TNR	7143	broad.mit.edu	37	1	175355309	175355309	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr1:175355309C>T	ENST00000367674.1	-	8	2344	c.1636G>A	c.(1636-1638)Ggg>Agg	p.G546R	TNR_ENST00000263525.2_Missense_Mutation_p.G546R	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	546	Fibronectin type-III 3.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GTGGTCCTCCCACCTTCCCCG	0.602000													4	15					0	0	0.000602	0	0
DSP	1832	broad.mit.edu	37	6	7575659	7575659	+	Silent	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr6:7575659C>T	ENST00000379802.3	+	18	2909	c.2568C>T	c.(2566-2568)ttC>ttT	p.F856F	DSP_ENST00000418664.2_Silent_p.F856F	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	856	Globular 1.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGGGCAAGTTCGGTGAAAAAG	0.498000													19	83					0	0	0.001882	0	0
SYN3	8224	broad.mit.edu	37	22	33265034	33265034	+	Silent	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr22:33265034C>T	ENST00000358763.2	-	5	782	c.540G>A	c.(538-540)ctG>ctA	p.L180L	SYN3_ENST00000332840.5_Silent_p.L180L	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	180	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GGCCGATGACCAGGCTGCGGT	0.587000													6	22					0	0	0.001984	0	0
CHAT	1103	broad.mit.edu	37	10	50835803	50835803	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr10:50835803G>A	ENST00000395562.2	+	8	1306	c.837G>A	c.(835-837)tgG>tgA	p.W279*	CHAT_ENST00000351556.3_Nonsense_Mutation_p.W243*|CHAT_ENST00000339797.1_Nonsense_Mutation_p.W243*|CHAT_ENST00000337653.2_Nonsense_Mutation_p.W361*|CHAT_ENST00000395559.2_Nonsense_Mutation_p.W243*|CHAT_ENST00000455728.2_Nonsense_Mutation_p.W243*	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	361					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	GGAGCGAGTGGGCCGAGGCCA	0.577000													6	27					0	0	0.001984	0	0
CYP2C19	1557	broad.mit.edu	37	10	96541593	96541593	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr10:96541593C>T	ENST00000371321.3	+	5	740	c.658C>T	c.(658-660)Ccc>Tcc	p.P220S	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	220					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	CAATAATTTTCCCACTATCAT	0.274000													7	22					0	0	0.004482	0	0
NAP1L2	4674	broad.mit.edu	37	X	72433604	72433604	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chrX:72433604T>G	ENST00000373517.3	-	1	1080	c.725A>C	c.(724-726)gAt>gCt	p.D242A	NAP1L2_ENST00000536638.1_Missense_Mutation_p.D100A	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	242					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					TAGCCAAAAATCAGGAATTCC	0.408000													15	15					0	0	0.004990	0	0
CDH6	1004	broad.mit.edu	37	5	31323026	31323026	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr5:31323026G>A	ENST00000265071.2	+	12	2249	c.1984G>A	c.(1984-1986)Gaa>Aaa	p.E662K		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	662					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TTACAACGACGAAGGTGGTGG	0.493000													12	50					0	0	0.002450	0	0
RGPD3	653489	broad.mit.edu	37	2	107032347	107032347	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr2:107032347C>T	ENST00000409886.3	-	21	5110	c.5023G>A	c.(5023-5025)Gaa>Aaa	p.E1675K	RGPD3_ENST00000304514.7_Missense_Mutation_p.E1675K	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1675					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						GCCTCTATTTCCCGAAGCAGG	0.438000													40	118					0	0	0.003610	0	0
TAF7L	54457	broad.mit.edu	37	X	100547822	100547822	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chrX:100547822G>A	ENST00000372907.3	-	1	223	c.212C>T	c.(211-213)gCc>gTc	p.A71V	TAF7L_ENST00000372905.2_5'UTR	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	71					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						AGCAGCCTGGGCGCTGCTGTC	0.572000													44	24					0	0	0.003214	0	0
PYGM	5837	broad.mit.edu	37	11	64521136	64521136	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr11:64521136G>A	ENST00000164139.3	-	11	1656	c.1258C>T	c.(1258-1260)Cca>Tca	p.P420S	PYGM_ENST00000377432.3_Missense_Mutation_p.P332S	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	420					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	ACGTCCCCTGGGAATGCGGCC	0.687000													4	10					0	0	0.001168	0	0
APC	324	broad.mit.edu	37	5	112178816	112178816	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr5:112178816C>T	ENST00000457016.1	+	16	7905	c.7525C>T	c.(7525-7527)Cct>Tct	p.P2509S	APC_ENST00000257430.4_Missense_Mutation_p.P2509S|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.P2509S			P25054	APC_HUMAN	adenomatous polyposis coli	2509	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AAAACTCCCACCTAATCTCAG	0.458000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			20	45					0	0	0.008871	0	0
SIN3A	25942	broad.mit.edu	37	15	75684776	75684776	+	Silent	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr15:75684776G>A	ENST00000394947.3	-	15	2972	c.2658C>T	c.(2656-2658)ttC>ttT	p.F886F	SIN3A_ENST00000360439.4_Silent_p.F886F|SIN3A_ENST00000394949.4_Silent_p.F886F	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN	SIN3 transcription regulator family member A	886					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						TGTTGACATAGAAGAGGTTGT	0.443000													15	46					0	0	0.002450	0	0
KCNB1	3745	broad.mit.edu	37	20	47990865	47990865	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr20:47990865A>T	ENST00000371741.4	-	2	1398	c.1232T>A	c.(1231-1233)aTc>aAc	p.I411N		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	411					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ATTGACGATGATGGGGATGGG	0.512000													12	52					0	0	0.001855	0	0
GRM4	2914	broad.mit.edu	37	6	34004036	34004036	+	Silent	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr6:34004036G>A	ENST00000374181.3	-	8	2020	c.1851C>T	c.(1849-1851)atC>atT	p.I617I	GRM4_ENST00000374177.3_Silent_p.I501I|GRM4_ENST00000545715.1_Silent_p.I309I|GRM4_ENST00000544773.1_Silent_p.I448I|GRM4_ENST00000455714.2_Silent_p.I477I|GRM4_ENST00000538487.1_Silent_p.I617I|GRM4_ENST00000535756.1_Silent_p.I484I	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	617					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	AGGCCTTGACGATGGGCGTGT	0.632000													9	23					0	0	0.004482	0	0
RELN	5649	broad.mit.edu	37	7	103162552	103162552	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr7:103162552G>A	ENST00000428762.1	-	48	7744	c.7585C>T	c.(7585-7587)Cag>Tag	p.Q2529*	RELN_ENST00000343529.5_Nonsense_Mutation_p.Q2529*|RELN_ENST00000424685.2_Nonsense_Mutation_p.Q2529*	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2529					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGCCAGTTCTGACTGGATGGA	0.542000													34	25					0	0	0.003271	0	0
SF1	7536	broad.mit.edu	37	11	64532981	64532981	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr11:64532981G>A	ENST00000377387.1	-	13	2043	c.1967C>T	c.(1966-1968)cCc>cTc	p.P656L	SF1_ENST00000377390.3_3'UTR|SF1_ENST00000227503.9_Missense_Mutation_p.P531L|SF1_ENST00000422298.2_Missense_Mutation_p.P416L|SF1_ENST00000377394.3_Silent_p.P532P|SF1_ENST00000334944.5_Silent_p.P599P	NM_001178030.1	NP_001171501.1	Q15637	SF01_HUMAN	splicing factor 1	531					nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						CGCCGCCGCGGGGAGGGATCC	0.632000													24	75					0	0	0.005443	0	0
KIAA1614	57710	broad.mit.edu	37	1	180886115	180886115	+	Silent	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr1:180886115C>T	ENST00000367588.4	+	2	931	c.876C>T	c.(874-876)tcC>tcT	p.S292S		NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	292										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GTGTCTTGTCCCTGTCTGATC	0.637000													15	63					0	0	0.003163	0	0
TBXAS1	6916	broad.mit.edu	37	7	139661812	139661812	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr7:139661812C>T	ENST00000263552.6	+	13	1455	c.917C>T	c.(916-918)tCc>tTc	p.S306F	TBXAS1_ENST00000416849.2_Missense_Mutation_p.S352F|TBXAS1_ENST00000414508.2_Missense_Mutation_p.S306F|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000458722.1_Missense_Mutation_p.S351F|TBXAS1_ENST00000411653.1_Missense_Mutation_p.S305F|TBXAS1_ENST00000425687.1_Missense_Mutation_p.S238F|TBXAS1_ENST00000436047.2_Missense_Mutation_p.S306F|TBXAS1_ENST00000448866.1_Missense_Mutation_p.S305F|TBXAS1_ENST00000336425.5_Missense_Mutation_p.S305F	NM_001130966.2	NP_001124438.1	P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	305					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					GACGTTTTCTCCTCTACTGGG	0.567000													8	41					0	0	0.003080	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94654429	94654429	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr1:94654429C>T	ENST00000260526.6	-	15	1827	c.1645G>A	c.(1645-1647)Gaa>Aaa	p.E549K	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	549					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		GATCTAGATTCGCTGCTCCCT	0.358000													24	63					0	0	0.008361	0	0
GRIK5	2901	broad.mit.edu	37	19	42569525	42569525	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr19:42569525C>T	ENST00000262895.3	-	2	93	c.94G>A	c.(94-96)Gat>Aat	p.D32N	GRIK5_ENST00000593562.1_Missense_Mutation_p.D32N|GRIK5_ENST00000301218.4_Missense_Mutation_p.D32N	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	32						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	ACTGTCTGATCATCCAGGATT	0.622000													13	27					0	0	0.001855	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553689	140553689	+	Missense_Mutation	SNP	G	G	A	rs147934905		TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr5:140553689G>A	ENST00000231137.3	+	1	1447	c.1273G>A	c.(1273-1275)Gac>Aac	p.D425N		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		425	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACCGTCACCGACTTGGGGAC	0.517000													14	49					0	0	0.004990	0	0
CACNG5	27091	broad.mit.edu	37	17	64880735	64880735	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr17:64880735G>A	ENST00000533854.1	+	5	764	c.527G>A	c.(526-528)gGg>gAg	p.G176E	CACNG5_ENST00000169565.3_Missense_Mutation_p.G176E|CACNG5_ENST00000307139.3_Missense_Mutation_p.G176E			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	176					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			TACAAGTATGGGTGGTCGTTT	0.552000													14	49					0	0	0.003163	0	0
LRRC39	127495	broad.mit.edu	37	1	100620727	100620727	+	Missense_Mutation	SNP	C	C	T	rs142389687	byFrequency	TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr1:100620727C>T	ENST00000370138.1	-	8	890	c.692G>A	c.(691-693)cGa>cAa	p.R231Q	LRRC39_ENST00000370137.1_Missense_Mutation_p.R231Q|LRRC39_ENST00000342895.3_Missense_Mutation_p.R231Q	NM_001256385.1	NP_001243314.1	Q96DD0	LRC39_HUMAN	leucine rich repeat containing 39	231										endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	13		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0826)|all cancers(265;0.135)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		TATTTCATTTCGTTGCAGCCA	0.308000													11	28					0	0	0.001368	0	0
NLRC4	58484	broad.mit.edu	37	2	32475148	32475148	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr2:32475148T>A	ENST00000404025.2	-	5	2273	c.1785A>T	c.(1783-1785)ttA>ttT	p.L595F	NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Missense_Mutation_p.L595F|NLRC4_ENST00000360906.5_Missense_Mutation_p.L595F			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	595					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					AGAAGTCAAATAAGTAATCGG	0.418000													21	77					0	0	0.008871	0	0
OR13C4	138804	broad.mit.edu	37	9	107288808	107288808	+	Missense_Mutation	SNP	G	G	A	rs139144967		TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr9:107288808G>A	ENST00000277216.3	-	1	682	c.683C>T	c.(682-684)aCg>aTg	p.T228M		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						GGCCGAGTTCGTTCGCAAGAT	0.403000													24	81					0	0	0.005443	0	0
ATP8A2	51761	broad.mit.edu	37	13	26402291	26402291	+	Silent	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr13:26402291G>A	ENST00000381655.2	+	28	2857	c.2715G>A	c.(2713-2715)caG>caA	p.Q905Q	ATP8A2_ENST00000255283.8_Intron|ATP8A2_ENST00000491840.1_3'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	865					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TTTCTGGGCAGATTTTATTTG	0.373000													24	111					0	0	0.008361	0	0
SPIDR	23514	broad.mit.edu	37	8	48641592	48641592	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr8:48641592T>C	ENST00000297423.4	+	18	2917	c.2533T>C	c.(2533-2535)Tgc>Cgc	p.C845R	SPIDR_ENST00000517693.1_Missense_Mutation_p.C320R|SPIDR_ENST00000518074.1_Missense_Mutation_p.C785R|SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000518060.1_Missense_Mutation_p.C47R|SPIDR_ENST00000541342.1_Missense_Mutation_p.C775R	NM_001080394.2	NP_001073863.1			scaffolding protein involved in DNA repair																		AAGACCGCAGTGCAGAGTGAA	0.597000													6	22					0	0	0.001984	0	0
SLC5A5	6528	broad.mit.edu	37	19	17985012	17985012	+	Splice_Site	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr19:17985012G>A	ENST00000222248.3	+	2	770	c.423_splice	c.e2+1	p.T141_splice		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	141					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TTGTAGCCACGGTGAGTGGCC	0.682000													5	16					0	0	0.001168	0	0
OPRK1	4986	broad.mit.edu	37	8	54142118	54142118	+	Silent	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr8:54142118G>A	ENST00000265572.3	-	4	1179	c.882C>T	c.(880-882)atC>atT	p.I294I	OPRK1_ENST00000520287.1_Silent_p.I294I|OPRK1_ENST00000524278.1_Silent_p.I205I|RP11-162D9.3_ENST00000524425.1_RNA	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	294					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding	p.L295M(1)		NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	CCTCCACCAGGATGAATATGT	0.557000													8	19					0	0	0.004482	0	0
TMC5	79838	broad.mit.edu	37	16	19451758	19451758	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr16:19451758G>A	ENST00000396229.2	+	3	1147	c.398G>A	c.(397-399)cGa>cAa	p.R133Q	TMC5_ENST00000542583.2_Missense_Mutation_p.R133Q|TMC5_ENST00000541464.1_Missense_Mutation_p.R133Q|TMC5_ENST00000381414.4_Missense_Mutation_p.R133Q	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	133						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GGATCTCAACGAAATCCTGAT	0.498000													39	134					0	0	0.006999	0	0
LRP2	4036	broad.mit.edu	37	2	170101310	170101310	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr2:170101310G>A	ENST00000263816.3	-	22	3608	c.3323C>T	c.(3322-3324)tCc>tTc	p.S1108F	LRP2_ENST00000443831.1_Missense_Mutation_p.S971F	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1108	LDL-receptor class A 10.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GTCAAGGCAGGAAGCAGGTGC	0.527000													28	74					0	0	0.006320	0	0
DSCAML1	57453	broad.mit.edu	37	11	117299431	117299431	+	Silent	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr11:117299431G>A	ENST00000321322.6	-	33	5956	c.5955C>T	c.(5953-5955)ccC>ccT	p.P1985P	DSCAML1_ENST00000527706.1_Silent_p.P1715P	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1925	Pro-rich.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		AGGCCTCACGGGGTGGGACCA	0.632000													6	2					0	0	0.003080	0	0
HLA-DQB2	3120	broad.mit.edu	37	6	32726774	32726774	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr6:32726774C>T	ENST00000435145.2	-	3	560	c.499G>A	c.(499-501)Gcc>Acc	p.A167T	HLA-DQB2_ENST00000411527.1_Missense_Mutation_p.A167T|HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.A167T			Q5SR06	Q5SR06_HUMAN	major histocompatibility complex, class II, DQ beta 2	167					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex		p.A167T(1)		endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						ACAACACCGGCTGTCTCCTCC	0.542000													5	44					0	0	0.003080	0	0
FRMPD3	84443	broad.mit.edu	37	X	106769920	106769920	+	Silent	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chrX:106769920C>T	ENST00000276185.4	+	3	201	c.201C>T	c.(199-201)ttC>ttT	p.F67F	FRMPD3-AS1_ENST00000415252.1_RNA			Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	67	PDZ.					cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						GCTTTGGCTTCGTGGCTGGCA	0.557000													32	24					0	0	0.006230	0	0
CYP2A13	1553	broad.mit.edu	37	19	41597771	41597771	+	Silent	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr19:41597771C>T	ENST00000330436.3	+	5	789	c.789C>T	c.(787-789)tcC>tcT	p.S263S		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	263					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	ATCCCAATTCCCCACGGGACT	0.582000													10	40					0	0	0.001368	0	0
MYOF	26509	broad.mit.edu	37	10	95147614	95147614	+	Silent	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr10:95147614C>T	ENST00000371501.4	-	19	1760	c.1638G>A	c.(1636-1638)gaG>gaA	p.E546E	MYOF_ENST00000359263.4_Silent_p.E546E|MYOF_ENST00000358334.5_Silent_p.E533E|MYOF_ENST00000371502.4_Silent_p.E546E			Q9NZM1	MYOF_HUMAN	myoferlin	546					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GTGGTGTCTTCTCAAGAAAAG	0.433000													25	84					0	0	0.004656	0	0
PI4KA	5297	broad.mit.edu	37	22	21147483	21147483	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr22:21147483C>T	ENST00000255882.6	-	19	2412	c.2326G>A	c.(2326-2328)Gtg>Atg	p.V776M	PI4KA_ENST00000466162.1_5'UTR|PI4KA_ENST00000572273.1_Missense_Mutation_p.V718M	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	718					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			ATACTCACCACAGCTATTACA	0.373000													4	20					0	0	0.000602	0	0
LPA	4018	broad.mit.edu	37	6	161022055	161022055	+	Silent	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr6:161022055G>A	ENST00000447678.1	-	20	3141	c.3021C>T	c.(3019-3021)gtC>gtT	p.V1007V	LPA_ENST00000316300.5_Silent_p.V1007V	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3515	Kringle 9.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ACTCCCACCTGACACTGGGAT	0.483000													15	22					0	0	0.003163	0	0
SERPINA11	256394	broad.mit.edu	37	14	94914815	94914815	+	Silent	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr14:94914815G>A	ENST00000334708.3	-	2	361	c.297C>T	c.(295-297)atC>atT	p.I99I	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	99					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		GGCCCTCCAGGATCAGAGCTG	0.622000													12	60					0	0	0.000978	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173853540	173853540	+	Silent	SNP	C	C	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr2:173853540C>T	ENST00000264111.6	+	14	1531	c.1344C>T	c.(1342-1344)gaC>gaT	p.D448D	RAPGEF4_ENST00000539331.1_Silent_p.D296D|RAPGEF4_ENST00000540783.1_Silent_p.D296D|RAPGEF4_ENST00000535187.1_Silent_p.D229D|RAPGEF4_ENST00000473043.1_3'UTR|RAPGEF4_ENST00000538974.1_Silent_p.D278D|RAPGEF4_ENST00000409036.1_Silent_p.D449D|RAPGEF4_ENST00000397081.3_Silent_p.D449D|RAPGEF4_ENST00000397087.3_Silent_p.D305D			Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	449					blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			TAAGAGTAGACAAGGAGGATT	0.438000													12	45					0	0	0.001368	0	0
DMBT1	1755	broad.mit.edu	37	10	124389503	124389503	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr10:124389503A>T	ENST00000368909.3	+	44	5535	c.5429A>T	c.(5428-5430)aAt>aTt	p.N1810I	DMBT1_ENST00000359586.6_Missense_Mutation_p.N530I|DMBT1_ENST00000368956.2_Missense_Mutation_p.N1182I|DMBT1_ENST00000330163.4_Missense_Mutation_p.N1182I|DMBT1_ENST00000338354.3_Missense_Mutation_p.N1810I|DMBT1_ENST00000368955.3_Missense_Mutation_p.N1800I|DMBT1_ENST00000344338.3_Missense_Mutation_p.N1800I	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1810	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)				GGCTTCAGTAATCTGAAGTAA	0.483000													24	60					0	0	0.003330	0	0
THG1L	54974	broad.mit.edu	37	5	157158487	157158487	+	Silent	SNP	G	G	A	rs149523877		TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr5:157158487G>A	ENST00000231198.7	+	1	283	c.39G>A	c.(37-39)ttG>ttA	p.L13L		NM_017872.3	NP_060342.2	Q9NWX6	THG1_HUMAN	tRNA-histidine guanylyltransferase 1-like (S. cerevisiae)	13					protein homotetramerization|tRNA modification	mitochondrion	GTP binding|metal ion binding|tRNA guanylyltransferase activity			NS(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)	13	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACGATTCCTTGGCCACCATTT	0.557000													25	63					0	0	0.003330	0	0
COL9A1	1297	broad.mit.edu	37	6	70966482	70966482	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr6:70966482G>A	ENST00000357250.6	-	21	1650	c.1492C>T	c.(1492-1494)Cct>Tct	p.P498S	COL9A1_ENST00000370499.4_Missense_Mutation_p.P255S|COL9A1_ENST00000320755.7_Missense_Mutation_p.P255S|COL9A1_ENST00000489611.1_5'UTR	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	498	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						GGTGCACCAGGAAGACCCTGA	0.403000													8	30					0	0	0.006214	0	0
BOD1L1	259282	broad.mit.edu	37	4	13582680	13582681	+	Splice_Site	INS	-	-	A			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr4:13582680_13582681insA	ENST00000040738.5	-	21	8804		c.e21-2			NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1								DNA binding										AGTCGTCTTCTAAAAAAAAAAA	0.337													2	4	---	---	---	---					
TIMD4	91937	broad.mit.edu	37	5	156378745	156378747	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr5:156378745_156378747delTTG	ENST00000274532.2	-	3	511_513	c.455_457delCAA	c.(454-459)agc>a	p.TS152del	TIMD4_ENST00000407087.3_In_Frame_Del_p.TS152del	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	152	Thr-rich.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTGGTGGGGCTTGTTGTTGTTGT	0.537													8	739	---	---	---	---					
ACTL6B	51412	broad.mit.edu	37	7	100245130	100245131	+	Frame_Shift_Ins	INS	-	-	G			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr7:100245130_100245131insG	ENST00000160382.5	-	8	801_802	c.695_696insC	c.(694-696)caafs	p.Q232fs		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	232					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TCTTCCAGTTTGGGGGGGCACC	0.609													31	116	---	---	---	---					
PMEL	6490	broad.mit.edu	37	12	56355182	56355184	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr12:56355182_56355184delAGA	ENST00000548747.1	-	3	913_915	c.251_253delTCT	c.(250-255)tct>t	p.FS84del	PMEL_ENST00000552882.1_In_Frame_Del_p.FS84del|PMEL_ENST00000548689.1_5'UTR|PMEL_ENST00000360714.4_In_Frame_Del_p.FS84del|PMEL_ENST00000550447.1_In_Frame_Del_p.FS47del|PMEL_ENST00000550464.1_Intron|PMEL_ENST00000548493.1_In_Frame_Del_p.FS84del|PMEL_ENST00000539511.1_Intron|PMEL_ENST00000449260.2_In_Frame_Del_p.FS84del|PMEL_ENST00000536427.1_In_Frame_Del_p.FS84del			P40967	PMEL_HUMAN	premelanosome protein	84					melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AAGGCAATAGAGAAGGAGGCATT	0.483													15	56	---	---	---	---					
TPTE2P1	646405	broad.mit.edu	37	13	25527490	25527491	+	RNA	INS	-	-	AAAAAG			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr13:25527490_25527491insAAAAAG	ENST00000429698.1	-	0	282																											AGGAAGGTTCTAAAAAAAATTT	0.252													5	8	---	---	---	---					
YY1	7528	broad.mit.edu	37	14	100705788	100705790	+	In_Frame_Del	DEL	CCA	CCA	-	rs76675246		TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr14:100705788_100705790delCCA	ENST00000262238.4	+	1	467_469	c.207_209delCCA	c.(205-210)ggc>gg	p.GH69del		NM_003403.3	NP_003394.1	P25490	TYY1_HUMAN	YY1 transcription factor	69	Gly-rich.				cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis	Ino80 complex|nuclear matrix|plasma membrane	four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11		Melanoma(154;0.152)				gGCACGCCGGccaccaccaccac	0.724													3	6	---	---	---	---					
SNHG14	104472715	broad.mit.edu	37	15	25465467	25465469	+	RNA	DEL	GAA	GAA	-			TCGA-ER-A19O-06A-11D-A197-08	TCGA-ER-A19O-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f	a6eb80d5-a4af-4d88-a201-9130e38ad853	g.chr15:25465467_25465469delGAA	ENST00000424208.1	+	0	3039				SNHG14_ENST00000453082.2_RNA	NR_003305.1																						TGGTGAGACCGAAGAAGACTTGC	0.581													3	3	---	---	---	---