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
NLRP4	147945	broad.mit.edu	37	19	56369623	56369623	+	Silent	SNP	G	G	C			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr19:56369623G>C	ENST00000301295.6	+	3	1286	c.864G>C	c.(862-864)cgG>cgC	p.R288R	NLRP4_ENST00000587891.1_Silent_p.R213R|NLRP4_ENST00000346986.5_Silent_p.R288R	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	288	NACHT.						ATP binding	p.R288R(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AGGAGCTCCGGGATCAGGTGA	0.547000													13	90					0	0	1	0	0
ZNF225	7768	broad.mit.edu	37	19	44635689	44635689	+	Missense_Mutation	SNP	A	A	G			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr19:44635689A>G	ENST00000262894.6	+	5	1202	c.922A>G	c.(922-924)Atg>Gtg	p.M308V	ZNF225_ENST00000590612.1_Missense_Mutation_p.M308V|ZNF225_ENST00000592780.1_3'UTR	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	308					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				TAGGCATTCCATGGTTCACAT	0.418000													63	105					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151921547	151921547	+	Missense_Mutation	SNP	A	A	G			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr7:151921547A>G	ENST00000355193.2	-	19	3349	c.3131T>C	c.(3130-3132)gTt>gCt	p.V1044A	KMT2C_ENST00000262189.6_Missense_Mutation_p.V1044A					lysine (K)-specific methyltransferase 2C																		TCCTTTGGGAACTGTCTGCAA	0.463000													7	69					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131883374	131883374	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr7:131883374G>A	ENST00000359827.3	-	13	3570	c.2608C>T	c.(2608-2610)Cgg>Tgg	p.R870W	PLXNA4_ENST00000321063.4_Missense_Mutation_p.R870W			Q9HCM2	PLXA4_HUMAN	plexin A4	870	IPT/TIG 1.					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						CCCCCTTCCCGGGGGCCTGTC	0.572000													28	61					0	0	1	0	0
SRMS	6725	broad.mit.edu	37	20	62172701	62172701	+	Splice_Site	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr20:62172701C>A	ENST00000217188.1	-	7	1169		c.e7-1			NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites								ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			AGATGTCGTCCTGGGGGCGAG	0.657000													31	143					6.00712e-18	9.77567e-18	1	1	0
RIMS2	9699	broad.mit.edu	37	8	104897845	104897845	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr8:104897845G>T	ENST00000507740.1	+	2	678	c.442G>T	c.(442-444)Gcc>Tcc	p.A148S	RIMS2_ENST00000262231.10_Missense_Mutation_p.A148S|RIMS2_ENST00000522174.1_3'UTR|RIMS2_ENST00000406091.3_Missense_Mutation_p.A340S|RIMS2_ENST00000436393.2_Missense_Mutation_p.A118S	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	371	RabBD.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.A148S(2)|p.A376S(1)|p.A118S(1)|p.A340S(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TCCGAATTTGGCCCGTTATCC	0.458000										HNSCC(12;0.0054)			25	31					7.87624e-14	1.18046e-13	1	1	0
NPIPB15	440348	broad.mit.edu	37	16	74425441	74425441	+	Silent	SNP	A	A	G			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr16:74425441A>G	ENST00000429990.1	+	7	891	c.795A>G	c.(793-795)acA>acG	p.T265T						nuclear pore complex interacting protein family, member B15																		GCCTCAAGACACCTCCCGAAT	0.493000													30	307					0	0	1	0	0
TTK	7272	broad.mit.edu	37	6	80747683	80747683	+	Splice_Site	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr6:80747683G>T	ENST00000509894.1	+	18	2875		c.e18-1		TTK_ENST00000369798.2_Splice_Site|TTK_ENST00000230510.3_Splice_Site			P33981	TTK_HUMAN	TTK protein kinase						mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TTGGCATATAGGTTGGCACAG	0.269000													8	23					1.06961e-07	1.33044e-07	1	1	0
EVPL	2125	broad.mit.edu	37	17	74005485	74005485	+	Silent	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr17:74005485C>A	ENST00000301607.3	-	22	4054	c.3801G>T	c.(3799-3801)ctG>ctT	p.L1267L	EVPL_ENST00000586740.1_Silent_p.L1289L	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1267	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CGATCTCACGCAGCACCTCGG	0.667000													32	140					2.70662e-09	3.54077e-09	1	1	0
TRBV10-1	28585	broad.mit.edu	37	7	142232026	142232026	+	RNA	SNP	A	A	C			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr7:142232026A>C	ENST00000390364.3	-	0	64																											TGCCCATTTCAGCTCCAGGGC	0.572000													8	49					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22157517	22157517	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr1:22157517C>A	ENST00000374695.3	-	85	11708	c.11629G>T	c.(11629-11631)Ggg>Tgg	p.G3877W		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3877	EGF-like 1.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CAGCGGCTCCCGGTGAAGCCA	0.652000													3	7					0.00909568	0.00942163	1	1	0
DOK5	55816	broad.mit.edu	37	20	53259999	53259999	+	Silent	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr20:53259999C>A	ENST00000262593.5	+	7	1088	c.738C>A	c.(736-738)ctC>ctA	p.L246L	DOK5_ENST00000395939.1_Silent_p.L138L	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5	246							insulin receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			GGCTGCAGCTCCAGATGAAGA	0.597000													16	65					2.31682e-05	2.61396e-05	1	1	0
ANK2	287	broad.mit.edu	37	4	114277008	114277008	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr4:114277008G>T	ENST00000357077.4	+	38	7287	c.7234G>T	c.(7234-7236)Gca>Tca	p.A2412S	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.A2379S|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2379					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GTTAGAACTTGCACTCCCTAG	0.517000													27	73					1.1804e-14	1.82316e-14	1	1	0
DSC3	1825	broad.mit.edu	37	18	28610996	28610996	+	Silent	SNP	A	A	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr18:28610996A>T	ENST00000434452.1	-	3	451	c.297T>A	c.(295-297)tcT>tcA	p.S99S	DSC3_ENST00000360428.4_Silent_p.S99S	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	99					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TCCTTTTGTCAGAAAGCCATA	0.368000													15	53					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144991709	144991709	+	Missense_Mutation	SNP	T	T	C			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr8:144991709T>C	ENST00000322810.4	-	32	12860	c.12691A>G	c.(12691-12693)Aac>Gac	p.N4231D	PLEC_ENST00000398774.2_Missense_Mutation_p.N4062D|PLEC_ENST00000436759.2_Missense_Mutation_p.N4121D|PLEC_ENST00000354589.3_Missense_Mutation_p.N4094D|PLEC_ENST00000527096.1_Missense_Mutation_p.N4117D|PLEC_ENST00000354958.2_Missense_Mutation_p.N4072D|PLEC_ENST00000356346.3_Missense_Mutation_p.N4080D|PLEC_ENST00000357649.2_Missense_Mutation_p.N4098D|PLEC_ENST00000345136.3_Missense_Mutation_p.N4094D	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4231	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCCTCCGTGTTAGGGTCAAAG	0.602000													47	86					0	0	1	0	0
DCAKD	79877	broad.mit.edu	37	17	43111636	43111636	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr17:43111636G>A	ENST00000452796.2	-	2	490	c.235C>T	c.(235-237)Cgg>Tgg	p.R79W	DCAKD_ENST00000588295.1_5'UTR|DCAKD_ENST00000588499.1_Missense_Mutation_p.R79W|DCAKD_ENST00000310604.4_Missense_Mutation_p.R79W|DCAKD_ENST00000342350.5_Missense_Mutation_p.R79W			Q8WVC6	DCAKD_HUMAN	dephospho-CoA kinase domain containing	79	DPCK.				coenzyme A biosynthetic process		ATP binding|dephospho-CoA kinase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)	6		Prostate(33;0.155)				AGCTGCCGCCGGTCAGGCTGG	0.597000													28	63					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21418823	21418823	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr18:21418823G>T	ENST00000313654.9	+	26	3413	c.3172G>T	c.(3172-3174)Ggg>Tgg	p.G1058W	LAMA3_ENST00000399516.3_Missense_Mutation_p.G1058W	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1058	Domain IV 1 (domain IV B).				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGCCAGTTATGGGCGATTTGT	0.418000													17	36					9.16793e-09	1.16421e-08	1	1	0
WDR93	56964	broad.mit.edu	37	15	90255326	90255326	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr15:90255326C>A	ENST00000268130.7	+	5	732	c.631C>A	c.(631-633)Ctc>Atc	p.L211I	WDR93_ENST00000560294.1_Missense_Mutation_p.L211I	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	211					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			TGCAGCCTTCCTCCTACAAGG	0.393000													19	34					8.34094e-07	1.01666e-06	1	1	0
ANGPT1	284	broad.mit.edu	37	8	108334164	108334164	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr8:108334164G>T	ENST00000520734.1	-	3	453	c.168C>A	c.(166-168)gaC>gaA	p.D56E	ANGPT1_ENST00000518386.1_5'UTR|ANGPT1_ENST00000520052.1_Missense_Mutation_p.D56E			Q15389	ANGP1_HUMAN	angiopoietin 1	256					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			TGTGGACTGTGTCCATCAGCT	0.383000													58	72					5.82218e-30	1.06448e-29	1	1	0
SV2A	9900	broad.mit.edu	37	1	149882227	149882227	+	Nonsense_Mutation	SNP	G	G	C			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr1:149882227G>C	ENST00000369146.3	-	5	1474	c.984C>G	c.(982-984)taC>taG	p.Y328*	SV2A_ENST00000369145.1_Nonsense_Mutation_p.Y328*	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	328					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	TGTGGAACTGGTAGGCAGAAC	0.587000													22	21					0	0	1	0	0
OPRK1	4986	broad.mit.edu	37	8	54142070	54142070	+	Silent	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr8:54142070G>T	ENST00000265572.3	-	4	1227	c.930C>A	c.(928-930)tcC>tcA	p.S310S	OPRK1_ENST00000520287.1_Silent_p.S310S|OPRK1_ENST00000524278.1_Silent_p.S221S|RP11-162D9.3_ENST00000524425.1_RNA	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	310					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			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)	AGTAATAGCTGGAGAGAGCAG	0.527000													11	71					0.000673444	0.000727367	1	1	0
ZNF208	7757	broad.mit.edu	37	19	22154264	22154264	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr19:22154264T>A	ENST00000397126.4	-	4	3720	c.3572A>T	c.(3571-3573)cAt>cTt	p.H1191L	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CTCTCCAGTATGAATTACCTT	0.368000													10	35					0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3647809	3647809	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr16:3647809C>A	ENST00000294008.3	-	6	1995	c.1355G>T	c.(1354-1356)aGa>aTa	p.R452I		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	452	Interaction with C20orf94, ERCC4 and MSH2.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TGCTTCTGGTCTTATCCTCTC	0.597000								Direct reversal of damage					20	53					2.4624e-09	3.22824e-09	1	1	0
FRMPD3	84443	broad.mit.edu	37	X	106803609	106803609	+	Silent	SNP	G	G	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chrX:106803609G>A	ENST00000276185.4	+	10	984	c.984G>A	c.(982-984)tcG>tcA	p.S328S				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	328	FERM.					cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						AGAAGATCTCGCTCAAGAATG	0.517000													4	35					0	0	1	0	0
STC2	8614	broad.mit.edu	37	5	172750395	172750395	+	Silent	SNP	G	G	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr5:172750395G>A	ENST00000265087.4	-	3	1642	c.333C>T	c.(331-333)gcC>gcT	p.A111A	STC2_ENST00000520593.1_5'UTR	NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	111					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)			GCAGAGCGTGGGCCTTACATT	0.577000													7	28					0	0	1	0	0
SERPINA12	145264	broad.mit.edu	37	14	94953739	94953739	+	Silent	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr14:94953739G>T	ENST00000341228.2	-	6	1941	c.1146C>A	c.(1144-1146)ctC>ctA	p.L382L	SERPINA12_ENST00000556881.1_Silent_p.L382L	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	382					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		TCTTGACGACGAGTGGTGTCT	0.512000													37	85					2.09667e-21	3.57493e-21	1	1	0
SDK2	54549	broad.mit.edu	37	17	71364629	71364629	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr17:71364629G>T	ENST00000392650.3	-	37	5084	c.5084C>A	c.(5083-5085)gCc>gAc	p.A1695D	SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Missense_Mutation_p.A1676D	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1695	Fibronectin type-III 11.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GACCATGTAGGCCGTGTAGCC	0.627000													3	21					0.150653	0.151905	1	1	0
FBN2	2201	broad.mit.edu	37	5	127800477	127800477	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr5:127800477C>T	ENST00000508053.1	-	12	1740	c.766G>A	c.(766-768)Gcc>Acc	p.A256T	FBN2_ENST00000262464.4_Missense_Mutation_p.A256T|FBN2_ENST00000508989.1_Missense_Mutation_p.A223T			P35556	FBN2_HUMAN	fibrillin 2	256	TB 1.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGAGGCTGGGCTGGACACATC	0.617000													11	98					0	0	1	0	0
JAG1	182	broad.mit.edu	37	20	10622435	10622435	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr20:10622435G>A	ENST00000254958.5	-	22	3193	c.2678C>T	c.(2677-2679)tCa>tTa	p.S893L	JAG1_ENST00000423891.2_Missense_Mutation_p.S734L	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	893					angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						TCCTACCTTTGAGCAGGCGAT	0.537000									Alagille Syndrome				17	141					0	0	1	0	0
OR2C3	81472	broad.mit.edu	37	1	247695733	247695733	+	Silent	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr1:247695733G>T	ENST00000366487.3	-	2	442	c.81C>A	c.(79-81)gtC>gtA	p.V27V	GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366490.3_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			CTATGAAGAGGACAGTTTCTA	0.478000													45	62					4.44401e-20	7.4931e-20	1	1	0
OR4Q3	441669	broad.mit.edu	37	14	20216001	20216001	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr14:20216001C>A	ENST00000331723.1	+	1	415	c.415C>A	c.(415-417)Ccc>Acc	p.P139T		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGTCATGAACCCCCAGCTATG	0.502000													18	111					8.34094e-07	1.01666e-06	1	1	0
NPFFR2	10886	broad.mit.edu	37	4	73012740	73012740	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr4:73012740G>T	ENST00000308744.6	+	4	878	c.780G>T	c.(778-780)aaG>aaT	p.K260N	NPFFR2_ENST00000395999.1_Missense_Mutation_p.K161N|NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000358749.3_Missense_Mutation_p.K158N|NPFFR2_ENST00000344413.5_3'UTR	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	260					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			TCACTATCAAGACAGCGTTTG	0.398000													89	236					7.90906e-34	1.46813e-33	1	1	0
TBC1D5	9779	broad.mit.edu	37	3	17425455	17425455	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr3:17425455C>A	ENST00000253692.7	-	9	2226	c.562G>T	c.(562-564)Gat>Tat	p.D188Y	TBC1D5_ENST00000429924.2_Missense_Mutation_p.D140Y|TBC1D5_ENST00000414318.2_Intron|TBC1D5_ENST00000429383.4_Missense_Mutation_p.D188Y|TBC1D5_ENST00000446818.2_Missense_Mutation_p.D188Y	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	188	Rab-GAP TBC.					intracellular	protein binding|Rab GTPase activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						AAAAGAACATCTGTAAGAATT	0.328000													31	37					2.2171e-23	3.84509e-23	1	1	0
KIAA0226L	80183	broad.mit.edu	37	13	46924402	46924402	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr13:46924402G>C	ENST00000429979.1	-	11	2019	c.1415C>G	c.(1414-1416)cCt>cGt	p.P472R	KIAA0226L_ENST00000409879.2_Missense_Mutation_p.P315R|KIAA0226L_ENST00000534925.1_Missense_Mutation_p.P337R|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.P405R|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.P472R|KIAA0226L_ENST00000378781.3_3'UTR|KIAA0226L_ENST00000378787.3_Missense_Mutation_p.P472R|KIAA0226L_ENST00000322896.6_Missense_Mutation_p.P315R|KIAA0226L_ENST00000378797.2_Missense_Mutation_p.P472R	NM_025113.2	NP_079389.2	Q9H714	CM018_HUMAN	KIAA0226-like	472										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						GATTCGGGCAGGGATGCACGA	0.502000													4	7					0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14508097	14508097	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr5:14508097G>T	ENST00000344204.4	+	57	8884	c.8860G>T	c.(8860-8862)Ggg>Tgg	p.G2954W	TRIO_ENST00000537187.1_Missense_Mutation_p.G2778W|TRIO_ENST00000344135.5_Missense_Mutation_p.G453W	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2954	Protein kinase.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CCAGTTACTGGGGAACCCTGA	0.512000													8	90					1.12685e-05	1.29545e-05	1	1	0
RNF130	55819	broad.mit.edu	37	5	179467605	179467605	+	Missense_Mutation	SNP	A	A	C			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr5:179467605A>C	ENST00000522208.2	-	2	308	c.290T>G	c.(289-291)gTc>gGc	p.V97G	RNF130_ENST00000261947.4_Missense_Mutation_p.V97G|RNF130_ENST00000521389.1_Missense_Mutation_p.V97G			Q86XS8	GOLI_HUMAN	ring finger protein 130	97					apoptosis	cytoplasm|integral to membrane|nucleus	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATTAGGAGGGACAAAGAACCG	0.413000													29	61					0	0	1	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47589794	47589794	+	Silent	SNP	A	A	G			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr20:47589794A>G	ENST00000371917.4	+	12	1638	c.1638A>G	c.(1636-1638)ggA>ggG	p.G546G		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	546					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			GAAGAAGTGGACATGAGCTGG	0.363000													16	59					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129725054	129725054	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr6:129725054G>T	ENST00000421865.2	+	40	5864	c.5815G>T	c.(5815-5817)Gag>Tag	p.E1939*		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1939	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGATGAAGCTGAGAAAGTTGC	0.408000													10	49					1.11149e-13	1.65361e-13	1	1	0
FAM115A	9747	broad.mit.edu	37	7	143573544	143573544	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr7:143573544G>A	ENST00000479870.1	-	2	366	c.158C>T	c.(157-159)tCc>tTc	p.S53F	FAM115A_ENST00000355951.2_Missense_Mutation_p.S53F|FAM115A_ENST00000392900.3_Intron	NM_001206938.1|NM_001206941.1|NM_014719.2	NP_001193867.1|NP_001193870.1|NP_055534.1	Q9Y4C2	F115A_HUMAN	family with sequence similarity 115, member A	53										NS(1)|endometrium(1)|lung(5)	7	Melanoma(164;0.0903)					ACGGCCATAGGAGGAGGCAGC	0.562000													9	59					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176526234	176526234	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr1:176526234G>T	ENST00000367662.3	+	2	1940	c.776G>T	c.(775-777)gGa>gTa	p.G259V	PAPPA2_ENST00000367661.3_Missense_Mutation_p.G259V	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	259					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TCCCAAGTAGGACTGCCCATC	0.562000													10	118					4.68919e-08	5.89304e-08	1	1	0
SLC36A2	153201	broad.mit.edu	37	5	150701753	150701753	+	Missense_Mutation	SNP	A	A	G			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr5:150701753A>G	ENST00000335244.4	-	9	1163	c.1034T>C	c.(1033-1035)cTc>cCc	p.L345P	SLC36A2_ENST00000521967.1_Missense_Mutation_p.L345P|SLC36A2_ENST00000450886.1_Missense_Mutation_p.L69P	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	345					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGCAATGTAGAGAAGCTTGAC	0.547000													22	33					0	0	1	0	0
KIF21A	55605	broad.mit.edu	37	12	39735910	39735910	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr12:39735910C>A	ENST00000395670.3	-	13	2148	c.1729G>T	c.(1729-1731)Gat>Tat	p.D577Y	KIF21A_ENST00000361418.5_Missense_Mutation_p.D577Y|KIF21A_ENST00000361961.3_Missense_Mutation_p.D564Y|KIF21A_ENST00000544797.2_Missense_Mutation_p.D564Y|KIF21A_ENST00000541463.2_Missense_Mutation_p.D564Y			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	577					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TCTGTATTATCCTCTTTACCA	0.343000													8	29					1.12685e-05	1.29545e-05	1	1	0
NYAP1	222950	broad.mit.edu	37	7	100086358	100086358	+	Silent	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr7:100086358G>T	ENST00000423930.1	+	4	1173	c.1014G>T	c.(1012-1014)ctG>ctT	p.L338L	NYAP1_ENST00000300179.2_Silent_p.L338L|NYAP1_ENST00000454988.1_Silent_p.L281L			Q6ZVC0	CG051_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	338	Pro-rich.																CTCCACTCCTGGCCTTCCCCC	0.672000													12	74					1.05317e-09	1.3958e-09	1	1	0
PARP4	143	broad.mit.edu	37	13	25009358	25009358	+	Silent	SNP	T	T	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr13:25009358T>A	ENST00000381989.3	-	31	4026	c.3921A>T	c.(3919-3921)ccA>ccT	p.P1307P		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1307					cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		ATGTTTCCCATGGACTGACTT	0.458000													13	98					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19468000	19468000	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr1:19468000C>A	ENST00000375267.2	-	57	8332	c.8329G>T	c.(8329-8331)Gag>Tag	p.E2777*	UBR4_ENST00000375254.3_Nonsense_Mutation_p.E2777*|UBR4_ENST00000375217.2_Nonsense_Mutation_p.E2805*|UBR4_ENST00000375226.2_Nonsense_Mutation_p.E2788*			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2777					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TCAGCTGTCTCCAGGACCATC	0.552000													12	74					5.50884e-06	6.4429e-06	1	1	0
NOS1	4842	broad.mit.edu	37	12	117681165	117681165	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr12:117681165G>T	ENST00000317775.6	-	19	3584	c.2899C>A	c.(2899-2901)Cgc>Agc	p.R967S	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Missense_Mutation_p.R1001S	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	967					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TTCCAGCTGCGATCATTGCTG	0.512000													37	67					2.75727e-19	4.58538e-19	1	1	0
TTN	7273	broad.mit.edu	37	2	179422258	179422258	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr2:179422258G>A	ENST00000589042.1	-	329	87955	c.87731C>T	c.(87730-87732)cCa>cTa	p.P29244L	TTN_ENST00000359218.5_Missense_Mutation_p.P20304L|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P27603L|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P20179L|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P20371L|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P26676L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27603	Fibronectin type-III 113.						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)			AGTGACCCATGGTGTAGATGG	0.423000													36	93					0	0	1	0	0
PLOD2	5352	broad.mit.edu	37	3	145794590	145794590	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr3:145794590C>G	ENST00000282903.5	-	15	1833	c.1656G>C	c.(1654-1656)tgG>tgC	p.W552C	PLOD2_ENST00000360060.3_Missense_Mutation_p.W531C|PLOD2_ENST00000461497.1_Missense_Mutation_p.W212C|PLOD2_ENST00000494950.1_Missense_Mutation_p.W497C|RP11-274H2.2_ENST00000480247.1_RNA	NM_182943.2	NP_891988.1	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	531					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	CAAAAATCTGCCAGAGGTCAT	0.294000													26	35					0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28919881	28919881	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr18:28919881T>A	ENST00000257192.4	+	11	1792	c.1580T>A	c.(1579-1581)gTa>gAa	p.V527E		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	527					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TCTAGCCAAGTATATTCTTCT	0.423000													32	108					0	0	1	0	0
CRY2	1408	broad.mit.edu	37	11	45891164	45891164	+	Silent	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr11:45891164G>T	ENST00000443527.2	+	7	1075	c.1053G>T	c.(1051-1053)ggG>ggT	p.G351G	CRY2_ENST00000417225.2_Silent_p.G269G	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome 2 (photolyase-like)	330	FAD-binding.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						GCATGGAGGGGAACCCCATCT	0.582000													40	98					1.30998e-17	2.12043e-17	1	1	0
NBAS	51594	broad.mit.edu	37	2	15523359	15523359	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr2:15523359C>G	ENST00000281513.5	-	29	3365	c.3340G>C	c.(3340-3342)Gat>Cat	p.D1114H	NBAS_ENST00000441750.1_Missense_Mutation_p.D994H	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1114										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GCATCAGAATCTAGACATGTG	0.353000													15	69					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7574000	7574000	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr17:7574000C>A	ENST00000269305.4	-	10	1216	c.1027G>T	c.(1027-1029)Gag>Tag	p.E343*	TP53_ENST00000420246.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.E343*|TP53_ENST00000455263.2_3'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	343	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		E -> G (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E343*(8)|p.0?(8)|p.R342_N345delRELN(1)|p.I332fs*5(1)|p.?(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCATTCAGCTCTCGGAACATC	0.567000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			16	21					9.16793e-09	1.16421e-08	1	1	0
PSMA1	5682	broad.mit.edu	37	11	14539204	14539204	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr11:14539204C>A	ENST00000530457.1	-	4	693	c.163G>T	c.(163-165)Gat>Tat	p.D55Y	PSMA1_ENST00000396393.1_Missense_Mutation_p.D80Y|PSMA1_ENST00000555531.1_Missense_Mutation_p.D80Y|PSMA1_ENST00000419365.2_Missense_Mutation_p.D80Y|PSMA1_ENST00000396394.2_Missense_Mutation_p.D80Y|PSMA1_ENST00000418988.2_Missense_Mutation_p.D86Y			P25786	PSA1_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 1	80					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|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex	protein binding|RNA binding|threonine-type endopeptidase activity			large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						AGTCTAGCATCAGCAGTAAGC	0.348000													11	84					0.000673444	0.000727367	1	1	0
YEATS2	55689	broad.mit.edu	37	3	183474377	183474377	+	Silent	SNP	C	C	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr3:183474377C>T	ENST00000305135.5	+	12	1647	c.1452C>T	c.(1450-1452)gtC>gtT	p.V484V		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	484					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CCACTCCAGTCCACGTGAAGC	0.468000													18	141					0	0	1	0	0
PADI1	29943	broad.mit.edu	37	1	17570585	17570585	+	Silent	SNP	G	G	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr1:17570585G>A	ENST00000375471.4	+	16	1931	c.1839G>A	c.(1837-1839)gaG>gaA	p.E613E	PADI1_ENST00000536552.1_Silent_p.E84E|PADI1_ENST00000537499.1_Silent_p.E170E|PADI1_ENST00000460293.1_3'UTR|PADI1_ENST00000413717.2_Silent_p.E128E	NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	613					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	GCTGCCTGGAGGAGAAGGTGC	0.567000													15	54					0	0	1	0	0
TMPRSS5	80975	broad.mit.edu	37	11	113568013	113568013	+	Silent	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr11:113568013C>A	ENST00000299882.5	-	5	604	c.456G>T	c.(454-456)ggG>ggT	p.G152G	TMPRSS5_ENST00000544634.1_Silent_p.G152G|TMPRSS5_ENST00000540540.1_5'UTR|TMPRSS5_ENST00000538955.1_Silent_p.G108G|TMPRSS5_ENST00000536856.1_5'UTR|TMPRSS5_ENST00000544476.1_Silent_p.G108G|TMPRSS5_ENST00000545579.1_Silent_p.G143G	NM_030770.2	NP_110397.2	Q9H3S3	TMPS5_HUMAN	transmembrane protease, serine 5	152	SRCR.				proteolysis	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10		all_cancers(61;2.71e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.75e-06)|Epithelial(105;6.34e-05)|all cancers(92;0.000502)		ACCTGAGATGCCCAAGGCTCC	0.617000													36	61					5.43694e-19	8.99243e-19	1	1	0
MROH9	80133	broad.mit.edu	37	1	170952569	170952569	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr1:170952569G>T	ENST00000367759.4	+	9	777	c.623G>T	c.(622-624)gGa>gTa	p.G208V	MROH9_ENST00000367758.3_Missense_Mutation_p.G208V	NM_001163629.1	NP_001157101.1			maestro heat-like repeat family member 9																		GCAGATATTGGAACAAATAAG	0.343000													4	45					0.150653	0.151905	1	1	0
ARSF	416	broad.mit.edu	37	X	3019199	3019199	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chrX:3019199G>T	ENST00000381127.1	+	8	1260	c.1039G>T	c.(1039-1041)Gga>Tga	p.G347*	ARSF_ENST00000359361.2_Nonsense_Mutation_p.G347*|ARSF_ENST00000537104.1_Nonsense_Mutation_p.G347*	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	347						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)				ATCAGATCACGGAGGGCATTT	0.433000													9	45					2.17888e-05	2.48139e-05	1	1	0
TAAR9	134860	broad.mit.edu	37	6	132859775	132859775	+	RNA	SNP	G	G	C			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr6:132859775G>C	ENST00000434551.1	+	0	347					NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN	trace amine associated receptor 9 (gene/pseudogene)							plasma membrane	G-protein coupled receptor activity					Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		ACATCCTTCTGTTTTGCTTCT	0.408000													6	70					0	0	1	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140744961	140744961	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr5:140744961C>A	ENST00000518069.1	+	1	1064	c.1064C>A	c.(1063-1065)tCg>tAg	p.S355*	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGACCAGTTCGATCTCTGAA	0.512000													14	52					3.27435e-08	4.12351e-08	1	1	0
CD46	4179	broad.mit.edu	37	1	207966929	207966929	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr1:207966929G>A	ENST00000322875.4	+	13	1349	c.1193G>A	c.(1192-1194)aGa>aAa	p.R398K	CD46_ENST00000367042.1_3'UTR|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000322918.5_Missense_Mutation_p.E347K|CD46_ENST00000354848.1_Missense_Mutation_p.R383K|CD46_ENST00000361067.1_Missense_Mutation_p.R384K|CD46_ENST00000357714.1_Missense_Mutation_p.R368K|CD46_ENST00000367047.1_Missense_Mutation_p.R335K|CD46_ENST00000480003.1_Missense_Mutation_p.R369K|CD46_ENST00000367041.1_3'UTR|CD46_ENST00000360212.2_Missense_Mutation_p.R354K|CD46_ENST00000358170.2_3'UTR|CD46_ENST00000441839.2_Missense_Mutation_p.E362K	NM_172359.2	NP_758869.1	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	0					complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						GCAGAGCAGAGAGGCTGAATA	0.398000													14	45					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105419028	105419028	+	Silent	SNP	C	C	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr14:105419028C>T	ENST00000333244.5	-	7	2879	c.2760G>A	c.(2758-2760)gaG>gaA	p.E920E	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	920						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AACTGGGCATCTCCACTTTGG	0.617000													67	335					0	0	1	0	0
ZNF680	340252	broad.mit.edu	37	7	64004736	64004736	+	Silent	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr7:64004736C>A	ENST00000309683.6	-	2	256	c.105G>T	c.(103-105)cgG>cgT	p.R35R	ZNF680_ENST00000447137.2_Silent_p.R35R|ZNF680_ENST00000476563.1_Intron	NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	35	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				TATATAAATTCCGTTGTGCAG	0.433000													21	149					6.44725e-10	8.65815e-10	1	1	0
POM121L12	285877	broad.mit.edu	37	7	53103418	53103418	+	Silent	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr7:53103418G>T	ENST00000408890.4	+	1	70	c.54G>T	c.(52-54)gcG>gcT	p.A18A		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	18										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TCTGGAAGGCGGGAGAACCCC	0.697000													15	19					0.00244969	0.00260414	1	1	0
ZNF559	84527	broad.mit.edu	37	19	9453364	9453364	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr19:9453364C>A	ENST00000393883.2	+	6	1885	c.1237C>A	c.(1237-1239)Cag>Aag	p.Q413K	ZNF559_ENST00000603380.1_Missense_Mutation_p.Q413K|ZNF177_ENST00000602738.1_Intron|ZNF177_ENST00000602856.1_Intron|ZNF177_ENST00000446085.4_Intron|ZNF559_ENST00000317221.7_3'UTR|ZNF559_ENST00000587557.1_Missense_Mutation_p.Q477K|ZNF559_ENST00000586255.1_Intron|ZNF177_ENST00000605471.1_Intron|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000538743.1_Missense_Mutation_p.Q333K	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						TGACTGTCAACAGTGTGGGAA	0.408000													24	53					7.87624e-14	1.18046e-13	1	1	0
BLOC1S5-TXNDC5	100526836	broad.mit.edu	37	6	7899862	7899862	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr6:7899862C>G	ENST00000539054.1	-	3	249	c.250G>C	c.(250-252)Gac>Cac	p.D84H	BLOC1S5-TXNDC5_ENST00000604490.1_Missense_Mutation_p.D48H|TXNDC5_ENST00000379757.4_Missense_Mutation_p.D156H|TXNDC5_ENST00000473453.1_Missense_Mutation_p.D48H																							GTCTGGAAGTCCCGAGGACCC	0.502000													16	51					0	0	1	0	0
TMEM168	64418	broad.mit.edu	37	7	112407404	112407404	+	Missense_Mutation	SNP	A	A	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr7:112407404A>T	ENST00000312814.5	-	5	2502	c.1942T>A	c.(1942-1944)Tat>Aat	p.Y648N	TMEM168_ENST00000454074.1_Missense_Mutation_p.Y648N	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	648						integral to membrane|transport vesicle				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						ACTAGGGGATATGTAATACGA	0.418000													12	62					0	0	1	0	0
RSPRY1	89970	broad.mit.edu	37	16	57261275	57261275	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr16:57261275G>A	ENST00000537866.1	+	11	2056	c.1183G>A	c.(1183-1185)Gat>Aat	p.D395N	RSPRY1_ENST00000394420.4_Missense_Mutation_p.D395N|RSPRY1_ENST00000563073.1_3'UTR			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	395	B30.2/SPRY.					extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						CATTGGGGATGATGAATACTC	0.502000													8	33					0	0	1	0	0
TTLL7	79739	broad.mit.edu	37	1	84399291	84399291	+	Splice_Site	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr1:84399291C>A	ENST00000260505.8	-	9	1424	c.1047_splice	c.e9+1	p.E349_splice	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	349	TTL.				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		AATGCCTTACCTCCAGAAGCC	0.373000													18	95					8.00594e-06	9.30959e-06	1	1	0
CDH10	1008	broad.mit.edu	37	5	24488122	24488122	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr5:24488122C>A	ENST00000264463.4	-	12	2524	c.2017G>T	c.(2017-2019)Ggc>Tgc	p.G673C	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	673					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CTCAGGGTGCCGATATCAAAG	0.468000										HNSCC(23;0.051)			51	73					9.52127e-25	1.67035e-24	1	1	0
ZBTB7B	51043	broad.mit.edu	37	1	154988870	154988870	+	Silent	SNP	C	C	T	rs146374595	byFrequency	TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr1:154988870C>T	ENST00000368426.3	+	4	1466	c.1329C>T	c.(1327-1329)gaC>gaT	p.D443D	ZBTB7B_ENST00000417934.2_Silent_p.D477D|ZBTB7B_ENST00000535420.1_Silent_p.D443D|ZBTB7B_ENST00000292176.2_Silent_p.D443D	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	443					cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CCAAGGAGGACCACCTGCAGC	0.642000													5	76					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14776192	14776192	+	Silent	SNP	G	G	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr9:14776192G>A	ENST00000380881.4	-	26	5270	c.4455C>T	c.(4453-4455)atC>atT	p.I1485I	FREM1_ENST00000380880.3_Silent_p.I1484I|FREM1_ENST00000380894.1_Silent_p.I20I|FREM1_ENST00000422223.2_Silent_p.I1484I			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1484					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GTCCATTGCTGATGATGAATC	0.493000													5	30					0	0	1	0	0
TOP2B	7155	broad.mit.edu	37	3	25650682	25650682	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr3:25650682C>A	ENST00000435706.2	-	30	4271	c.4070G>T	c.(4069-4071)aGa>aTa	p.R1357I	TOP2B_ENST00000540199.1_Missense_Mutation_p.R214I|TOP2B_ENST00000264331.4_Missense_Mutation_p.R1362I|TOP2B_ENST00000542520.1_Missense_Mutation_p.R214I			Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	1362					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						ACCTGCTGCTCTCCTAAGCAA	0.348000													5	11					0.184627	0.185238	1	1	0
NLRP14	338323	broad.mit.edu	37	11	7064353	7064353	+	Missense_Mutation	SNP	T	T	C			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr11:7064353T>C	ENST00000299481.4	+	4	1442	c.1096T>C	c.(1096-1098)Tgc>Cgc	p.C366R		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	366	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GTTTAGCATGTGCCAAGTCCC	0.458000													46	141					0	0	1	0	0
ALG3	10195	broad.mit.edu	37	3	183960437	183960437	+	Silent	SNP	G	G	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr3:183960437G>A	ENST00000455059.1	-	9	1516	c.1062C>T	c.(1060-1062)ctC>ctT	p.L354L	ALG3_ENST00000445626.2_Silent_p.L346L|ALG3_ENST00000418734.2_Silent_p.L338L|EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000397676.3_Silent_p.L394L			Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase	394					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGTTCCAGGAGAGCTCGATGA	0.587000													4	29					0	0	1	0	0
SLC4A2	6522	broad.mit.edu	37	7	150768258	150768258	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr7:150768258G>T	ENST00000485713.1	+	13	2889	c.1849G>T	c.(1849-1851)Gtg>Ttg	p.V617L	SLC4A2_ENST00000392826.2_Missense_Mutation_p.V608L|SLC4A2_ENST00000413384.2_Missense_Mutation_p.V617L|SLC4A2_ENST00000310317.5_Missense_Mutation_p.V535L|SLC4A2_ENST00000461735.1_Missense_Mutation_p.V603L	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	617					bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCCTTCAGAAGTGCAGGGCGA	0.657000													7	20					2.7689e-08	3.5015e-08	1	1	0
MERTK	10461	broad.mit.edu	37	2	112779855	112779855	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr2:112779855G>T	ENST00000295408.4	+	18	2627	c.2370G>T	c.(2368-2370)atG>atT	p.M790I	MERTK_ENST00000421804.2_Missense_Mutation_p.M790I|MERTK_ENST00000409780.1_Missense_Mutation_p.M614I			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	790	Protein kinase.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						GCGTGACCATGTGGGAAATAG	0.498000													11	44					6.40141e-05	7.12964e-05	1	1	0
KIAA1217	56243	broad.mit.edu	37	10	24813628	24813628	+	Missense_Mutation	SNP	A	A	G			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr10:24813628A>G	ENST00000376451.2	+	8	2142	c.1882A>G	c.(1882-1884)Atg>Gtg	p.M628V	KIAA1217_ENST00000376462.1_Missense_Mutation_p.M865V|KIAA1217_ENST00000458595.1_Missense_Mutation_p.M910V|KIAA1217_ENST00000396445.1_Missense_Mutation_p.M628V|KIAA1217_ENST00000376454.3_Missense_Mutation_p.M945V|KIAA1217_ENST00000396446.1_Missense_Mutation_p.M628V|KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000307544.6_Missense_Mutation_p.M628V|KIAA1217_ENST00000376452.3_Missense_Mutation_p.M910V			Q5T5P2	SKT_HUMAN	KIAA1217	945					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TGGGTCTGCCATGCAGAGCTT	0.537000													4	62					0	0	1	0	0
NTSR1	4923	broad.mit.edu	37	20	61386213	61386213	+	Silent	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr20:61386213C>A	ENST00000370501.3	+	2	1262	c.891C>A	c.(889-891)gcC>gcA	p.A297A		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	297						endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			GGGTCCAGGCCCTGCGGCACG	0.701000													17	37					0.160694	0.16176	1	1	0
CHD6	84181	broad.mit.edu	37	20	40126116	40126116	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr20:40126116T>A	ENST00000373233.3	-	8	1177	c.1000A>T	c.(1000-1002)Aca>Tca	p.T334S	CHD6_ENST00000373222.3_3'UTR|CHD6_ENST00000309279.7_Missense_Mutation_p.T334S	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	334	Chromo 1.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TCTTCCATTGTGGCCCATTTA	0.408000													28	64					0	0	1	0	0
CRYAB	1410	broad.mit.edu	37	11	111782353	111782353	+	Silent	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr11:111782353C>A	ENST00000533475.1	-	2	545	c.96G>T	c.(94-96)ctG>ctT	p.L32L	CRYAB_ENST00000533971.1_Silent_p.L32L|CRYAB_ENST00000526180.1_Silent_p.L32L|CRYAB_ENST00000527950.1_Silent_p.L32L|CRYAB_ENST00000531198.1_Silent_p.L32L|CRYAB_ENST00000227251.3_Silent_p.L32L	NM_001885.1	NP_001876.1	P02511	CRYAB_HUMAN	crystallin, alpha B	32					anti-apoptosis|muscle contraction|negative regulation of intracellular transport|protein folding|protein homooligomerization|response to heat	cytoplasm|nucleus	protein homodimerization activity|structural constituent of eye lens|unfolded protein binding	p.L32L(1)		endometrium(1)|large_intestine(1)|lung(2)|skin(4)	8		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		CAGACTCCAACAGGTGCTCTC	0.597000													5	9					0.000602214	0.000655097	1	1	0
LYST	1130	broad.mit.edu	37	1	235909637	235909637	+	Splice_Site	SNP	T	T	G			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr1:235909637T>G	ENST00000389794.3	-	29	8145	c.7972_splice	c.e29+1	p.Q2657_splice	LYST_ENST00000389793.2_Splice_Site_p.Q2657_splice			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2657					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)			TAGTCTTACCTTGATAAATAA	0.388000													8	105					0	0	1	0	0
ELAVL2	1993	broad.mit.edu	37	9	23701545	23701545	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr9:23701545G>A	ENST00000397312.2	-	5	819	c.545C>T	c.(544-546)gCt>gTt	p.A182V	ELAVL2_ENST00000380117.1_Missense_Mutation_p.A182V|ELAVL2_ENST00000223951.6_Missense_Mutation_p.A182V|ELAVL2_ENST00000544538.1_Missense_Mutation_p.A182V|ELAVL2_ENST00000380110.4_Missense_Mutation_p.A211V	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	182	RRM 2.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		GCCTTTGATAGCTTCTTCTGC	0.438000													53	86					0	0	1	0	0
PCDHGB2	56103	broad.mit.edu	37	5	140739820	140739820	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr5:140739820G>T	ENST00000522605.1	+	1	118	c.118G>T	c.(118-120)Gag>Tag	p.E40*	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATTCCAGAGGAGCTGGCCAA	0.617000											OREG0016857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	57					0.184627	0.185238	1	1	0
SPTB	6710	broad.mit.edu	37	14	65251017	65251017	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr14:65251017G>C	ENST00000389722.3	-	18	4003	c.3950C>G	c.(3949-3951)gCg>gGg	p.A1317G	SPTB_ENST00000542895.1_Missense_Mutation_p.A1317G|SPTB_ENST00000556626.1_Missense_Mutation_p.A1317G|SPTB_ENST00000389720.3_Missense_Mutation_p.A1317G|SPTB_ENST00000389721.5_Missense_Mutation_p.A1317G	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1317					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGCCACAAACGCCTGGTGCTT	0.517000													37	68					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92534789	92534789	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr11:92534789C>A	ENST00000298047.6	+	9	8627	c.8610C>A	c.(8608-8610)agC>agA	p.S2870R	FAT3_ENST00000409404.2_Missense_Mutation_p.S2870R|FAT3_ENST00000525166.1_Missense_Mutation_p.S2720R			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2870	Cadherin 26.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATATTGACAGCAACACGGGCT	0.512000										TCGA Ovarian(4;0.039)			14	27					4.36969e-10	5.90735e-10	1	1	0
SLC12A1	6557	broad.mit.edu	37	15	48539146	48539146	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr15:48539146C>T	ENST00000396577.3	+	12	1708	c.1493C>T	c.(1492-1494)gCg>gTg	p.A498V	SLC12A1_ENST00000380993.3_Missense_Mutation_p.A498V|SLC12A1_ENST00000558405.1_Missense_Mutation_p.A498V	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	498					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	CTCATCACTGCGGGAATCTTT	0.502000													71	196					0	0	1	0	0
F13A1	2162	broad.mit.edu	37	6	6225017	6225017	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr6:6225017G>T	ENST00000264870.3	-	7	1140	c.875C>A	c.(874-876)gCc>gAc	p.A292D		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	292					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TCCAGTCCAGGCCGATGGGGG	0.502000													30	121					1.08312e-15	1.69885e-15	1	1	0
ADCY2	108	broad.mit.edu	37	5	7520907	7520907	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr5:7520907G>A	ENST00000338316.4	+	3	554	c.465G>A	c.(463-465)atG>atA	p.M155I		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	155					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CCTTCAACATGCGAGACGCCA	0.532000													58	66					0	0	1	0	0
OR11H6	122748	broad.mit.edu	37	14	20691912	20691912	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr14:20691912C>G	ENST00000315519.2	+	1	122	c.44C>G	c.(43-45)aCa>aGa	p.T15R		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		GTTTTTCTAACAGCTTTGGGA	0.378000													31	110					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21225606	21225606	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr2:21225606G>T	ENST00000233242.1	-	29	12815	c.12688C>A	c.(12688-12690)Cag>Aag	p.Q4230K		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	4230					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)	GAATATACCTGGGACAGTACC	0.418000													28	91					1.17739e-12	1.70161e-12	1	1	0
OR2G2	81470	broad.mit.edu	37	1	247752154	247752154	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr1:247752154C>G	ENST00000320065.1	+	1	493	c.493C>G	c.(493-495)Ctc>Gtc	p.L165V	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			ACAGTCCACCCTCACCCTGCA	0.537000													96	133					0	0	1	0	0
PLXNA3	55558	broad.mit.edu	37	X	153695659	153695659	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chrX:153695659G>A	ENST00000369682.3	+	19	3461	c.3286G>A	c.(3286-3288)Gag>Aag	p.E1096K		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	1096	IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGCGCAAGGCGAGCACCCTGA	0.607000													15	67					0	0	1	0	0
ZFP42	132625	broad.mit.edu	37	4	188924605	188924605	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr4:188924605G>T	ENST00000326866.4	+	4	1052	c.644G>T	c.(643-645)cGa>cTa	p.R215L	ZFP42_ENST00000509524.1_Missense_Mutation_p.R215L	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	215					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		CATGGTCCCCGAGACCACGTC	0.502000													37	76					1.90571e-15	2.97369e-15	1	1	0
PAX1	5075	broad.mit.edu	37	20	21695332	21695332	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr20:21695332C>A	ENST00000398485.2	+	5	1550	c.1496C>A	c.(1495-1497)cCg>cAg	p.P499Q	PAX1_ENST00000444366.2_3'UTR	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	499					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						AGTGCCGGCCCGCGGGGTGCA	0.697000													8	24					5.18039e-06	6.12962e-06	1	1	0
CCDC22	28952	broad.mit.edu	37	X	49106113	49106113	+	Splice_Site	SNP	A	A	G			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chrX:49106113A>G	ENST00000376227.3	+	16	1867	c.1695_splice	c.e16-1	p.N566_splice		NM_014008.3	NP_054727.1	O60826	CCD22_HUMAN	coiled-coil domain containing 22	566										NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						TGTCCCCAGAACTGCAGCCAG	0.647000													3	32					0	0	1	0	0
PTGFR	5737	broad.mit.edu	37	1	78959097	78959097	+	Silent	SNP	A	A	G			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr1:78959097A>G	ENST00000370756.3	+	2	906	c.669A>G	c.(667-669)acA>acG	p.T223T	PTGFR_ENST00000370757.3_Silent_p.T223T|PTGFR_ENST00000370758.1_Silent_p.T223T	NM_001039585.1	NP_001034674.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	223					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	ATGCAATCACAGGAATTACAC	0.388000													22	49					0	0	1	0	0
SEC16B	89866	broad.mit.edu	37	1	177911136	177911136	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr1:177911136C>T	ENST00000308284.6	-	16	2010	c.1921G>A	c.(1921-1923)Ggc>Agc	p.G641S	RP4-798P15.3_ENST00000354921.2_5'UTR|RP4-798P15.3_ENST00000528461.1_3'UTR	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	641					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GACACGAGGCCATAATCTGCC	0.502000													9	67					0	0	1	0	0
FHL5	9457	broad.mit.edu	37	6	97063492	97063492	+	Silent	SNP	A	A	C			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr6:97063492A>C	ENST00000326771.2	+	7	1079	c.699A>C	c.(697-699)acA>acC	p.T233T	FHL5_ENST00000541107.1_Silent_p.T233T	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	233	LIM zinc-binding 4.					nucleus	zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		CAGGTCTCACAGGTGCCAAGT	0.458000													11	34					0	0	1	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204394102	204394102	+	Nonsense_Mutation	SNP	C	C	A	rs148973686		TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr1:204394102C>A	ENST00000367187.3	-	34	5339	c.4783G>T	c.(4783-4785)Gag>Tag	p.E1595*	RP11-739N20.2_ENST00000443515.1_RNA|PIK3C2B_ENST00000424712.2_Nonsense_Mutation_p.E1567*	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1595	C2.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			AATCCCTGCTCACTCAGCACG	0.597000													17	27					1.15088e-07	1.42859e-07	1	1	0
KIAA1109	84162	broad.mit.edu	37	4	123113463	123113463	+	Silent	SNP	A	A	G			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr4:123113463A>G	ENST00000264501.4	+	11	1354	c.981A>G	c.(979-981)ccA>ccG	p.P327P	KIAA1109_ENST00000388738.3_Silent_p.P327P|KIAA1109_ENST00000455637.1_Silent_p.P327P			Q2LD37	K1109_HUMAN	KIAA1109	327					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ACTTGCCTCCATGTTGGGGAC	0.378000													13	50					0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164906382	164906382	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr3:164906382G>T	ENST00000475390.1	-	2	2680	c.2237C>A	c.(2236-2238)cCg>cAg	p.P746Q	SLITRK3_ENST00000241274.3_Missense_Mutation_p.P746Q			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	746						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TTGGGTAACCGGGTGGGGGAT	0.592000										HNSCC(40;0.11)			18	83					8.00594e-06	9.30959e-06	1	1	0
GBP2	2634	broad.mit.edu	37	1	89585971	89585971	+	Splice_Site	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr1:89585971C>A	ENST00000370466.3	-	4	587	c.318_splice	c.e4-1	p.G107_splice		NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	107					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		TCATTGTCACCCTGTAAGTCA	0.458000													22	75					5.26018e-13	7.67531e-13	1	1	0
SLC35F4	341880	broad.mit.edu	37	14	58031040	58031040	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr14:58031040G>T	ENST00000556826.1	-	8	1507	c.1271C>A	c.(1270-1272)aCc>aAc	p.T424N	SLC35F4_ENST00000339762.6_Missense_Mutation_p.T460N|SLC35F4_ENST00000554729.1_Missense_Mutation_p.T301N	NM_001206920.1	NP_001193849.1			solute carrier family 35, member F4									p.T460I(2)		breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GATGATGATGGTAGCAGCCAG	0.453000													4	18					0.00024832	0.000273062	1	1	0
ETNK1	55500	broad.mit.edu	37	12	22796881	22796881	+	Missense_Mutation	SNP	A	A	G			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr12:22796881A>G	ENST00000266517.4	+	2	697	c.608A>G	c.(607-609)aAt>aGt	p.N203S	ETNK1_ENST00000335148.3_Missense_Mutation_p.N203S	NM_018638.4	NP_061108.2	Q9HBU6	EKI1_HUMAN	ethanolamine kinase 1	203					phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|ethanolamine kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TGTACCTTCAATAATGGACTA	0.408000													50	95					0	0	1	0	0
LILRP2	79166	broad.mit.edu	37	19	55221917	55221917	+	RNA	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr19:55221917G>T	ENST00000413439.1	+	0	1444																											CCTCCCTCTCGGTGCAGCCGG	0.637000													22	46					2.32416e-17	3.73218e-17	1	1	0
KCNMA1	3778	broad.mit.edu	37	10	78868278	78868278	+	Missense_Mutation	SNP	T	T	C			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr10:78868278T>C	ENST00000286627.5	-	9	2136	c.1184A>G	c.(1183-1185)aAg>aGg	p.K395R	KCNMA1_ENST00000286628.8_Missense_Mutation_p.K395R|KCNMA1_ENST00000372443.1_Missense_Mutation_p.K395R|KCNMA1_ENST00000404857.1_Missense_Mutation_p.K395R|KCNMA1_ENST00000406533.3_Missense_Mutation_p.K395R|KCNMA1_ENST00000354353.5_Missense_Mutation_p.K395R|KCNMA1_ENST00000404771.3_Missense_Mutation_p.K395R|KCNMA1_ENST00000372440.1_Missense_Mutation_p.K395R	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	395					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	CCCGTATTTCTTGCGGTTTCC	0.463000													29	36					0	0	1	0	0
OR2M7	391196	broad.mit.edu	37	1	248487293	248487293	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr1:248487293G>A	ENST00000317965.2	-	1	606	c.578C>T	c.(577-579)tCa>tTa	p.S193L		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	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)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTCAAATATTGATGTGTCATT	0.428000													84	366					0	0	1	0	0
ZPBP2	124626	broad.mit.edu	37	17	38033005	38033005	+	Silent	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr17:38033005C>A	ENST00000377940.3	+	7	1033	c.894C>A	c.(892-894)acC>acA	p.T298T	ZPBP2_ENST00000348931.4_Silent_p.T320T|ZPBP2_ENST00000584588.1_Silent_p.T247T	NM_198844.2	NP_942141.2	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	320					binding of sperm to zona pellucida	extracellular region				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			CCGTCCTTACCTATGGAGCTA	0.403000													57	181					7.89702e-26	1.39752e-25	1	1	0
MYH1	4619	broad.mit.edu	37	17	10415793	10415793	+	Missense_Mutation	SNP	A	A	G			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr17:10415793A>G	ENST00000226207.5	-	12	1173	c.1079T>C	c.(1078-1080)aTg>aCg	p.M360T	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	360	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CCCATAATGCATCACAGCCCC	0.433000													26	98					0	0	1	0	0
DEFB118	117285	broad.mit.edu	37	20	29956487	29956487	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr20:29956487G>A	ENST00000253381.2	+	1	67	c.34G>A	c.(34-36)Gtg>Atg	p.V12M		NM_054112.2	NP_473453.1	Q96PH6	DB118_HUMAN	defensin, beta 118	12					cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis	extracellular region				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TCCTATGCTTGTGCTCCTACC	0.488000													29	39					0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139905665	139905665	+	Missense_Mutation	SNP	A	A	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr9:139905665A>T	ENST00000265662.5	-	38	6043	c.5896T>A	c.(5896-5898)Tac>Aac	p.Y1966N	ABCA2_ENST00000341511.6_Missense_Mutation_p.Y1966N|ABCA2_ENST00000371605.3_Missense_Mutation_p.Y1965N			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1965					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TCGTTGATGTACTCGTTGTAG	0.602000													27	68					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20591313	20591313	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr4:20591313C>A	ENST00000504154.1	+	30	3387	c.3135C>A	c.(3133-3135)aaC>aaA	p.N1045K	SLIT2_ENST00000503823.1_Missense_Mutation_p.N1037K|SLIT2_ENST00000273739.5_Missense_Mutation_p.N1058K|SLIT2_ENST00000503837.1_Missense_Mutation_p.N1041K	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1045	EGF-like 4.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						AGGACCTGAACCCCTGCCAGC	0.488000													6	33					3.59834e-05	4.02987e-05	1	1	0
APLP1	333	broad.mit.edu	37	19	36362895	36362895	+	Silent	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr19:36362895G>T	ENST00000221891.4	+	6	999	c.807G>T	c.(805-807)acG>acT	p.T269T	APLP1_ENST00000537454.2_Silent_p.T230T|APLP1_ENST00000586861.1_Silent_p.T263T	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	269					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AAGAGGAAACGGTCCCACCCC	0.582000													46	285					6.31075e-24	1.10075e-23	1	1	0
RNF130	55819	broad.mit.edu	37	5	179467604	179467604	+	Silent	SNP	G	G	A	rs144172235	byFrequency	TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr5:179467604G>A	ENST00000522208.2	-	2	309	c.291C>T	c.(289-291)gtC>gtT	p.V97V	RNF130_ENST00000261947.4_Silent_p.V97V|RNF130_ENST00000521389.1_Silent_p.V97V			Q86XS8	GOLI_HUMAN	ring finger protein 130	97					apoptosis	cytoplasm|integral to membrane|nucleus	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TATTAGGAGGGACAAAGAACC	0.413000													29	61					0	0	1	0	0
LOC643201	643201	broad.mit.edu	37	5	175582018	175582018	+	RNA	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr5:175582018C>A	ENST00000515403.1	-	0	2057				RP11-826N14.4_ENST00000510029.1_lincRNA	NR_036494.1																						CAGCCTGGCACTGAGGCAGGG	0.587000													3	7					0.004672	0.00491491	1	1	0
PKD1	5310	broad.mit.edu	37	16	2161672	2161672	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr16:2161672C>A	ENST00000262304.4	-	15	3704	c.3496G>T	c.(3496-3498)Ggc>Tgc	p.G1166C	PKD1_ENST00000423118.1_Missense_Mutation_p.G1166C	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1166	PKD 6.		G -> S (in ADPKD1).		calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ACAGGGGAGCCGTCCCCGAAG	0.682000													3	11					0.115264	0.116609	1	1	0
ATP12A	479	broad.mit.edu	37	13	25267035	25267035	+	Splice_Site	SNP	G	G	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr13:25267035G>A	ENST00000218548.6	+	10	1728		c.e10+1		ATP12A_ENST00000381946.3_Splice_Site	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide						ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	CATCATGAAGGTAATGCTTCT	0.448000													14	146					0	0	1	0	0
KIAA0368	23392	broad.mit.edu	37	9	114140904	114140904	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr9:114140904G>C	ENST00000259335.4	-	37	4443	c.4444C>G	c.(4444-4446)Caa>Gaa	p.Q1482E	KIAA0368_ENST00000338205.5_Missense_Mutation_p.Q1304E|KIAA0368_ENST00000374378.3_5'UTR	NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						TTGAGAACTTGGGGCTCCAAT	0.483000													8	58					0	0	1	0	0
TCL6	27004	broad.mit.edu	37	14	96136810	96136810	+	RNA	SNP	C	C	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr14:96136810C>T	ENST00000467865.1	+	0	1920				RP11-1070N10.6_ENST00000461160.1_RNA																large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		CAGACACATTCACACTGGGCC	0.443000			T	TRA@	T-ALL								12	47					0	0	1	0	0
TRBV6-5	28602	broad.mit.edu	37	7	142180678	142180678	+	RNA	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr7:142180678C>A	ENST00000390368.2	-	0	246																											AGCCTCAGCCCCATGCCTGGG	0.498000													85	332					1.5608e-48	2.94225e-48	1	1	0
OPA1	4976	broad.mit.edu	37	3	193375013	193375013	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr3:193375013G>A	ENST00000361510.2	+	23	2557	c.2323G>A	c.(2323-2325)Gac>Aac	p.D775N	OPA1_ENST00000361150.2_Missense_Mutation_p.D721N|OPA1_ENST00000392438.3_Missense_Mutation_p.D720N|OPA1_ENST00000361828.2_Missense_Mutation_p.D738N|OPA1_ENST00000361715.2_Missense_Mutation_p.D739N|OPA1_ENST00000361908.3_Missense_Mutation_p.D757N	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	720					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		CTTTGCGGAGGACAGCTTGGT	0.343000													16	57					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33576254	33576254	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr5:33576254G>T	ENST00000504830.1	-	19	4212	c.3877C>A	c.(3877-3879)Ctg>Atg	p.L1293M	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.L1208M	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1293	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCAGTAATCAGACTTGTTGCA	0.483000										HNSCC(64;0.19)			135	155					8.73839e-46	1.64217e-45	1	1	0
SELL	6402	broad.mit.edu	37	1	169677577	169677577	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr1:169677577C>A	ENST00000236147.4	-	3	652	c.492G>T	c.(490-492)aaG>aaT	p.K164N	SELL_ENST00000463108.1_5'UTR|C1orf112_ENST00000498289.1_Intron	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN	selectin L	151	EGF-like.				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	integral to plasma membrane	glycosphingolipid binding|heparin binding|protease binding|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					AGAGGGCTGCCTTTAGTTTGT	0.493000													49	58					1.19403e-26	2.13799e-26	1	1	0
MUC3A	4584	broad.mit.edu	37	7	100552935	100552935	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr7:100552935G>T	ENST00000319509.7	+	2	1580	c.1580G>T	c.(1579-1581)gGg>gTg	p.G527V						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						TGCCTTCCGGGGTTTTCTGGG	0.562000													17	99					6.94344e-10	9.28341e-10	1	1	0
SPATS1	221409	broad.mit.edu	37	6	44310904	44310904	+	Silent	SNP	C	C	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr6:44310904C>T	ENST00000288390.2	+	1	419	c.72C>T	c.(70-72)tgC>tgT	p.C24C	SPATS1_ENST00000323108.8_Silent_p.C24C			Q496A3	SPAS1_HUMAN	spermatogenesis associated, serine-rich 1	24										NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GCACGACCTGCGGCAGACAGC	0.517000													6	91					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179458856	179458856	+	Missense_Mutation	SNP	T	T	C			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr2:179458856T>C	ENST00000589042.1	-	297	58488	c.58264A>G	c.(58264-58266)Aaa>Gaa	p.K19422E	TTN_ENST00000359218.5_Missense_Mutation_p.K10482E|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K17781E|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K10357E|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K10549E|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K16854E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17781							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)			GCTTCATCTTTGAACCAGGAA	0.468000													15	74					0	0	1	0	0
WASL	8976	broad.mit.edu	37	7	123332590	123332590	+	Silent	SNP	C	C	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr7:123332590C>T	ENST00000223023.4	-	9	1490	c.1158G>A	c.(1156-1158)ccG>ccA	p.P386P		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	386	Pro-rich.				actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity	p.P386P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAGGCGGGGGCGGTGGCCCAG	0.607000													12	81					0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94128588	94128588	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr4:94128588C>A	ENST00000282020.4	+	5	1027	c.769C>A	c.(769-771)Cac>Aac	p.H257N	GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Missense_Mutation_p.H162N	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	257					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TTTTGACTGTCACTGGATCAT	0.323000													19	43					2.27731e-05	2.58862e-05	1	1	0
BCL6	604	broad.mit.edu	37	3	187440292	187440292	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr3:187440292C>T	ENST00000406870.2	-	10	2441	c.2075G>A	c.(2074-2076)cGc>cAc	p.R692H	BCL6_ENST00000232014.4_Missense_Mutation_p.R692H|BCL6_ENST00000450123.2_Missense_Mutation_p.R636H|RP11-211G3.3_ENST00000437407.1_Intron|RP11-211G3.3_ENST00000449623.1_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	692					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		GGCTGACACGCGGTATTGCAC	0.552000			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""								14	70					0	0	1	0	0
THOC2	57187	broad.mit.edu	37	X	122830694	122830694	+	Splice_Site	SNP	T	T	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chrX:122830694T>A	ENST00000245838.8	-	6	377		c.e6-2		THOC2_ENST00000355725.4_Splice_Site|THOC2_ENST00000491737.1_Intron	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2						intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						AACTAAATACTGTATTAAAAA	0.303000													5	36					0	0	1	0	0
MIR17HG	407975	broad.mit.edu	37	13	92003630	92003630	+	RNA	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr13:92003630G>T	ENST00000385233.2	+	0	63					NR_029508.1																						CACTTGTCCCGGCCTGTTGAG	0.393000													11	51					3.86212e-05	4.31732e-05	1	1	0
GSTA2	2939	broad.mit.edu	37	6	52615399	52615399	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr6:52615399T>A	ENST00000493422.1	-	7	800	c.645A>T	c.(643-645)gaA>gaT	p.E215D		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	215					glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163)	TCTTCCTTGATTCTTCTAAAG	0.418000													41	98					0	0	1	0	0
POP1	10940	broad.mit.edu	37	8	99148943	99148943	+	Silent	SNP	T	T	C			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr8:99148943T>C	ENST00000401707.2	+	8	1326	c.1245T>C	c.(1243-1245)tcT>tcC	p.S415S	POP1_ENST00000349693.3_Silent_p.S415S	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	415					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			CTTGGATCTCTCCAACCACAG	0.373000													17	86					0	0	1	0	0
BACH2	60468	broad.mit.edu	37	6	90642556	90642556	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr6:90642556C>A	ENST00000257749.4	-	9	2804	c.2097G>T	c.(2095-2097)atG>atT	p.M699I	BACH2_ENST00000537989.1_Missense_Mutation_p.M699I|BACH2_ENST00000343122.3_Missense_Mutation_p.M699I	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	699						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		ACAGTTCCCCCATGCATGCTT	0.512000													9	46					0.00448238	0.00474008	1	1	0
SSFA2	6744	broad.mit.edu	37	2	182783514	182783514	+	Silent	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr2:182783514G>T	ENST00000431877.2	+	13	3077	c.2898G>T	c.(2896-2898)cgG>cgT	p.R966R	SSFA2_ENST00000428267.2_Silent_p.R813R|SSFA2_ENST00000409136.1_Silent_p.R475R|SSFA2_ENST00000409001.1_Silent_p.R966R|SSFA2_ENST00000320370.7_Silent_p.R966R	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	966						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TAATGAGGCGGAGCCTGAATT	0.358000													21	44					7.45023e-12	1.05169e-11	1	1	0
SSPO	23145	broad.mit.edu	37	7	149486273	149486273	+	RNA	SNP	G	G	C			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr7:149486273G>C	ENST00000378016.2	+	0	4249							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCAGGCTGTGGGGAGGGGCA	0.652000													5	20					0	0	1	0	0
KIAA0556	23247	broad.mit.edu	37	16	27689260	27689260	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr16:27689260C>T	ENST00000261588.4	+	7	770	c.751C>T	c.(751-753)Cgc>Tgc	p.R251C	KIAA0556_ENST00000567894.1_3'UTR	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	251										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GACAGAAGGACGCTCTTCTCC	0.547000													22	63					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41684179	41684179	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr21:41684179G>T	ENST00000400454.1	-	9	2368	c.1891C>A	c.(1891-1893)Cag>Aag	p.Q631K		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	631	Ig-like C2-type 7.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CCATCCTTCTGCCAGGTGATC	0.517000													49	34					1.30916e-28	2.37213e-28	1	1	0
WDR1	9948	broad.mit.edu	37	4	10099480	10099480	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr4:10099480G>A	ENST00000382452.2	-	5	695	c.413C>T	c.(412-414)tCt>tTt	p.S138F	WDR1_ENST00000499869.2_Missense_Mutation_p.S138F|WDR1_ENST00000502702.1_Intron|WDR1_ENST00000382451.2_Intron	NM_017491.3	NP_059830.1	O75083	WDR1_HUMAN	WD repeat domain 1	138					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CTCGCCCACAGAAGAGCCACT	0.498000													4	39					0	0	1	0	0
LARP1	23367	broad.mit.edu	37	5	154172338	154172338	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr5:154172338G>T	ENST00000336314.4	+	4	514	c.490G>T	c.(490-492)Ggc>Tgc	p.G164C		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	241							protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTGCCAGCGAGGCGGGCAGAA	0.517000													24	76					7.87624e-14	1.18046e-13	1	1	0
ABCA2	20	broad.mit.edu	37	9	139905666	139905666	+	Silent	SNP	C	C	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr9:139905666C>T	ENST00000265662.5	-	38	6042	c.5895G>A	c.(5893-5895)gaG>gaA	p.E1965E	ABCA2_ENST00000341511.6_Silent_p.E1965E|ABCA2_ENST00000371605.3_Silent_p.E1964E			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1964					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CGTTGATGTACTCGTTGTAGG	0.602000													27	67					0	0	1	0	0
ZNF48	197407	broad.mit.edu	37	16	30409152	30409152	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr16:30409152G>T	ENST00000320159.2	+	2	957	c.581G>T	c.(580-582)tGt>tTt	p.C194F		NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	194					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						CCCACTATCTGTGGTGAATGT	0.587000													8	58					0.0381472	0.0389166	1	1	0
EVC	2121	broad.mit.edu	37	4	5758009	5758009	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr4:5758009G>T	ENST00000382674.2	+	11	1667	c.1483G>T	c.(1483-1485)Gag>Tag	p.E495*	EVC_ENST00000509451.1_Nonsense_Mutation_p.E495*|EVC_ENST00000264956.6_Nonsense_Mutation_p.E495*			P57679	EVC_HUMAN	Ellis van Creveld syndrome	495					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				TGAGGTCCTGGAGAGGCAGAG	0.517000													3	14					0.004672	0.00491491	1	1	0
OR5H2	79310	broad.mit.edu	37	3	98001735	98001735	+	Missense_Mutation	SNP	T	T	G			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr3:98001735T>G	ENST00000355273.2	+	1	4	c.4T>G	c.(4-6)Tcg>Gcg	p.S2A	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						TTCAGGGATGTCGAATGAGGA	0.393000													52	105					0	0	1	0	0
SFT2D1	113402	broad.mit.edu	37	6	166733724	166733724	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr6:166733724C>G	ENST00000361731.3	-	8	570	c.461G>C	c.(460-462)tGt>tCt	p.C154S	SFT2D1_ENST00000487841.1_5'UTR	NM_145169.1	NP_660152.1	Q8WV19	SFT2A_HUMAN	SFT2 domain containing 1	154					protein transport|vesicle-mediated transport	integral to membrane				NS(1)|central_nervous_system(1)|large_intestine(3)|upper_aerodigestive_tract(1)	6		Breast(66;0.000148)|Prostate(117;0.109)|Ovarian(120;0.199)		OV - Ovarian serous cystadenocarcinoma(33;2.63e-19)|BRCA - Breast invasive adenocarcinoma(81;4.92e-06)|GBM - Glioblastoma multiforme(31;4.58e-05)		GAGAGAAGAACAGCATTTAAT	0.368000													5	23					0	0	1	0	0
TAF3	83860	broad.mit.edu	37	10	8007492	8007492	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr10:8007492G>T	ENST00000344293.5	+	3	2225	c.2019G>T	c.(2017-2019)agG>agT	p.R673S		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	673	Lys-rich.				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						CAGCCTCCAGGGTCCCAGCCA	0.512000													31	78					1.06801e-11	1.50066e-11	1	1	0
FCRL1	115350	broad.mit.edu	37	1	157771726	157771726	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr1:157771726C>A	ENST00000358292.3	-	5	916	c.865G>T	c.(865-867)Gcg>Tcg	p.A289S	FCRL1_ENST00000368176.3_Missense_Mutation_p.A289S|FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000491942.1_Missense_Mutation_p.A289S	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	289	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			AGTGTCACCGCCTCACTGCGC	0.552000													66	75					7.1157e-29	1.29318e-28	1	1	0
FPR2	2358	broad.mit.edu	37	19	52272302	52272302	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr19:52272302G>T	ENST00000598776.1	+	2	1163	c.391G>T	c.(391-393)Gtc>Ttc	p.V131F	FPR2_ENST00000340023.6_Missense_Mutation_p.V131F|FPR2_ENST00000598953.1_Missense_Mutation_p.V131F	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	131					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						CCTGCATCCAGTCTGGGCCCA	0.488000													15	96					2.31682e-05	2.61396e-05	1	1	0
UNC45B	146862	broad.mit.edu	37	17	33504150	33504150	+	Splice_Site	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr17:33504150G>T	ENST00000268876.5	+	16	2242		c.e16+1		UNC45B_ENST00000394570.2_Splice_Site|UNC45B_ENST00000433649.1_Splice_Site|UNC45B_ENST00000378449.1_Splice_Site|UNC45B_ENST00000591048.1_Splice_Site	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)						cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TGGGGAGCGGGTAGGTGCTTG	0.582000													15	51					1.05317e-09	1.3958e-09	1	1	0
ANKRD35	148741	broad.mit.edu	37	1	145561799	145561799	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr1:145561799G>T	ENST00000355594.4	+	10	1574	c.1487G>T	c.(1486-1488)aGg>aTg	p.R496M		NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	496										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTTCAACTAAGGGAGGAGCTT	0.602000													27	183					4.59853e-10	6.2029e-10	1	1	0
TENM2	57451	broad.mit.edu	37	5	167645728	167645728	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr5:167645728G>C	ENST00000519204.1	+	22	4587	c.4469G>C	c.(4468-4470)gGg>gCg	p.G1490A	TENM2_ENST00000545108.1_Missense_Mutation_p.G1610A|TENM2_ENST00000518659.1_Missense_Mutation_p.G1611A|TENM2_ENST00000403607.2_Missense_Mutation_p.G1435A|TENM2_ENST00000520394.1_Missense_Mutation_p.G1372A					teneurin transmembrane protein 2																		CTGGTGACAGGGGAGTACTTG	0.468000													60	98					0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30318251	30318251	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr10:30318251C>T	ENST00000375377.1	-	3	927	c.826G>A	c.(826-828)Gag>Aag	p.E276K		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	276	Pro-rich.									breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CCACTCTTCTCAGAATTCCTC	0.532000													15	124					0	0	1	0	0
ARHGEF18	23370	broad.mit.edu	37	19	7527130	7527130	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr19:7527130G>T	ENST00000359920.6	+	11	2234	c.1981G>T	c.(1981-1983)Gac>Tac	p.D661Y	CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.K618N|ARHGEF18_ENST00000319670.9_Missense_Mutation_p.D503Y	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	661					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				CGGCCTCGAAGACCTGCCCCA	0.602000													17	94					3.45872e-05	3.88785e-05	1	1	0
C15orf52	388115	broad.mit.edu	37	15	40630768	40630768	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr15:40630768G>T	ENST00000559313.1	-	5	628	c.613C>A	c.(613-615)Cag>Aag	p.Q205K		NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	205										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		ATGGCCACCTGCGTGGGGGGG	0.582000											OREG0023060	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	118					1.55795e-14	2.38806e-14	1	1	0
GABRA4	2557	broad.mit.edu	37	4	46967193	46967193	+	Missense_Mutation	SNP	A	A	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr4:46967193A>T	ENST00000264318.3	-	8	1910	c.928T>A	c.(928-930)Ttg>Atg	p.L310M		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	310					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ACTTTGGGCAAAGAATGTCGT	0.438000													52	132					0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79069873	79069873	+	Silent	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr15:79069873G>T	ENST00000388820.4	-	9	1590	c.1380C>A	c.(1378-1380)ccC>ccA	p.P460P	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	460					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GTGGCACCGAGGGGAAGTCGA	0.642000													5	11					1.23904e-05	1.42173e-05	1	1	0
RBMX	27316	broad.mit.edu	37	X	135956317	135956317	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chrX:135956317C>A	ENST00000320676.7	-	9	1314	c.1160G>T	c.(1159-1161)gGc>gTc	p.G387V	RBMX_ENST00000562646.1_3'UTR|RBMX_ENST00000431446.3_Intron|RBMX_ENST00000570135.1_Missense_Mutation_p.G252V|RBMX_ENST00000565438.1_Missense_Mutation_p.G259V	NM_002139.3	NP_002130.2	P38159	HNRPG_HUMAN	RNA binding motif protein, X-linked	387						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TCTGCTTCTGCCTCCCCCTCT	0.483000													9	123					9.16793e-09	1.16421e-08	1	1	0
BAI1	575	broad.mit.edu	37	8	143559658	143559658	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr8:143559658G>T	ENST00000517894.1	+	7	2392	c.1498G>T	c.(1498-1500)Ggg>Tgg	p.G500W	BAI1_ENST00000323289.5_Missense_Mutation_p.G500W			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	500	TSP type-1 4.				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GCCTTCCTACGGGGGTGCGGA	0.687000													5	11					0.0293803	0.0301248	1	1	0
DCHS1	8642	broad.mit.edu	37	11	6661509	6661509	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr11:6661509C>A	ENST00000299441.3	-	2	1747	c.1336G>T	c.(1336-1338)Gac>Tac	p.D446Y		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	446	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGCCTGAGTCTGTGGCTGTA	0.582000													3	21					0.115264	0.116609	1	1	0
USH2A	7399	broad.mit.edu	37	1	215802194	215802194	+	Missense_Mutation	SNP	A	A	G			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr1:215802194A>G	ENST00000366943.2	-	72	15939	c.15553T>C	c.(15553-15555)Tca>Cca	p.S5185P	USH2A_ENST00000307340.3_Missense_Mutation_p.S5161P			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	5161					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCCCACAGTGAGTTGTCCATC	0.483000										HNSCC(13;0.011)			21	110					0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1653209	1653209	+	Silent	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr2:1653209G>T	ENST00000252804.4	-	17	2393	c.2343C>A	c.(2341-2343)atC>atA	p.I781I		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	781					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GGTGGGGGTTGATGCCCCGAG	0.642000													38	76					3.33393e-15	5.16249e-15	1	1	0
DCHS2	54798	broad.mit.edu	37	4	155156083	155156083	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr4:155156083C>G	ENST00000357232.3	-	25	8355	c.8356G>C	c.(8356-8358)Gag>Cag	p.E2786Q		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2786					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AATTTGGGCTCCCAACTAAGA	0.393000													47	79					0	0	1	0	0
TAAR5	9038	broad.mit.edu	37	6	132910162	132910162	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr6:132910162T>A	ENST00000258034.2	-	1	715	c.664A>T	c.(664-666)Atc>Ttc	p.I222F		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	222					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		ACCACAAAGATCTTCACATAC	0.498000													24	77					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90432747	90432747	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr6:90432747C>A	ENST00000369393.3	-	40	6009	c.5894G>T	c.(5893-5895)gGg>gTg	p.G1965V	MDN1_ENST00000428876.1_Missense_Mutation_p.G1965V			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1965					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		ATCATAACACCCAGGGGACTG	0.468000													38	182					2.19358e-23	3.81519e-23	1	1	0
ADCY1	107	broad.mit.edu	37	7	45743065	45743065	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr7:45743065T>A	ENST00000297323.7	+	15	2567	c.2545T>A	c.(2545-2547)Ttc>Atc	p.F849I		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	849					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	CGCCCAGCACTTCCTCATGTC	0.632000													29	54					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48312459	48312459	+	Nonsense_Mutation	SNP	A	A	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr7:48312459A>T	ENST00000435803.1	+	17	3220	c.3196A>T	c.(3196-3198)Aaa>Taa	p.K1066*		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1066					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GACAGGCCTCAAACAGCTGCT	0.368000													5	16					0	0	1	0	0
C2orf83	56918	broad.mit.edu	37	2	228476250	228476250	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr2:228476250C>A	ENST00000264387.4	-	3	399	c.313G>T	c.(313-315)Gct>Tct	p.A105S	C2orf83_ENST00000409066.1_3'UTR	NM_020161.3	NP_064546.3	Q53S99	CB083_HUMAN	chromosome 2 open reading frame 83	105						membrane	folic acid binding|reduced folate carrier activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(2)	11						TCGGCTGAAGCCTCTGCAGTT	0.542000													31	88					8.16721e-17	1.30118e-16	1	1	0
GLYAT	10249	broad.mit.edu	37	11	58477574	58477574	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr11:58477574G>T	ENST00000344743.3	-	6	697	c.556C>A	c.(556-558)Cat>Aat	p.H186N	GLYAT_ENST00000529732.1_Missense_Mutation_p.H186N|GLYAT_ENST00000278400.3_3'UTR	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	186					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	CCACCAAAATGCCAGAATTTA	0.483000													34	44					2.09667e-21	3.57493e-21	1	1	0
ARHGAP29	9411	broad.mit.edu	37	1	94670650	94670650	+	Missense_Mutation	SNP	T	T	C			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr1:94670650T>C	ENST00000260526.6	-	7	846	c.664A>G	c.(664-666)Ata>Gta	p.I222V	ARHGAP29_ENST00000370217.3_Missense_Mutation_p.I222V	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	222					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)		CATGAAACTATGTTCTTAGTA	0.328000													11	32					0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140502591	140502591	+	Silent	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr5:140502591G>T	ENST00000194152.1	+	1	1011	c.1011G>T	c.(1009-1011)gtG>gtT	p.V337V		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		337	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAGAGGTGGTGGATGTGAATG	0.428000													32	221					1.74807e-11	2.4281e-11	1	1	0
PRC1	9055	broad.mit.edu	37	15	91524890	91524890	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr15:91524890G>T	ENST00000361188.5	-	5	1722	c.511C>A	c.(511-513)Cgt>Agt	p.R171S	PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000394249.3_Missense_Mutation_p.R171S|PRC1_ENST00000442656.2_Missense_Mutation_p.R130S|PRC1_ENST00000361919.3_Missense_Mutation_p.R171S			O43663	PRC1_HUMAN	protein regulator of cytokinesis 1	171	Dimerization.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					AACTCCTCACGCCTAGAAGCC	0.408000													17	51					1.02788e-11	1.44762e-11	1	1	0
EFS	10278	broad.mit.edu	37	14	23826629	23826629	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr14:23826629C>A	ENST00000216733.3	-	6	2099	c.1492G>T	c.(1492-1494)Gcc>Tcc	p.A498S	EFS_ENST00000351354.3_Missense_Mutation_p.A405S|EFS_ENST00000429593.2_Missense_Mutation_p.A329S	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	498					cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		CTCAGAGGGGCAGAGGCTGCC	0.667000													15	44					1.49906e-05	1.71361e-05	1	1	0
LINC00691	152024	broad.mit.edu	37	3	24138614	24138614	+	RNA	SNP	C	C	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr3:24138614C>T	ENST00000436123.1	-	0	2109																											ACTGTACTGACATTTTCAAAG	0.438000													13	12					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170134345	170134345	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr2:170134345C>A	ENST00000263816.3	-	13	1967	c.1682G>T	c.(1681-1683)gGg>gTg	p.G561V	LRP2_ENST00000443831.1_Intron	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	561					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)	CAGAGTTACCCCAGCAGGCCA	0.448000													30	106					2.08457e-15	3.24444e-15	1	1	0
COL6A2	1292	broad.mit.edu	37	21	47549271	47549271	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr21:47549271G>T	ENST00000357838.4	+	28	2705	c.2623G>T	c.(2623-2625)Gtc>Ttc	p.V875F	COL6A2_ENST00000397763.1_Missense_Mutation_p.V875F|COL6A2_ENST00000409416.1_3'UTR|COL6A2_ENST00000310645.5_3'UTR|COL6A2_ENST00000300527.4_Intron	NM_058174.2	NP_478054.2	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	0	Nonhelical region.|VWFA 3.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GGCCGTGCTGGTCTACACCGC	0.632000													101	53					9.6635e-32	1.7829e-31	1	1	0
PCDHB4	56131	broad.mit.edu	37	5	140503755	140503755	+	Silent	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr5:140503755G>T	ENST00000194152.1	+	1	2175	c.2175G>T	c.(2173-2175)tcG>tcT	p.S725S		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		725					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	p.S725S(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTCGCTGCTCGGTGCCCGAGG	0.667000													68	195					7.65386e-43	1.42951e-42	1	1	0
DSEL	92126	broad.mit.edu	37	18	65179918	65179918	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr18:65179918C>A	ENST00000310045.7	-	2	3431	c.1958G>T	c.(1957-1959)aGt>aTt	p.S653I	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	643						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				GGCCATGGGACTATTGCCATG	0.368000													24	44					4.7796e-09	6.14665e-09	1	1	0
LRRC15	131578	broad.mit.edu	37	3	194081214	194081214	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr3:194081214G>A	ENST00000347624.3	-	2	644	c.559C>T	c.(559-561)Cac>Tac	p.H187Y	LRRC15_ENST00000428839.1_Missense_Mutation_p.H193Y|LRRC15_ENST00000439944.2_Missense_Mutation_p.H193Y	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	187						integral to membrane		p.H187N(1)		biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		GGTGAGATGTGGGTGAGGCTA	0.577000													29	239					0	0	1	0	0
SELL	6402	broad.mit.edu	37	1	169677576	169677576	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr1:169677576C>A	ENST00000236147.4	-	3	653	c.493G>T	c.(493-495)Gca>Tca	p.A165S	SELL_ENST00000463108.1_5'UTR|C1orf112_ENST00000498289.1_Intron	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN	selectin L	152	EGF-like.				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	integral to plasma membrane	glycosphingolipid binding|heparin binding|protease binding|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					CAGAGGGCTGCCTTTAGTTTG	0.493000													49	59					4.96213e-28	8.96433e-28	1	1	0
MGAT2	4247	broad.mit.edu	37	14	50089059	50089059	+	Missense_Mutation	SNP	T	T	G			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr14:50089059T>G	ENST00000305386.2	+	1	1571	c.1073T>G	c.(1072-1074)cTt>cGt	p.L358R	RP11-649E7.5_ENST00000555043.1_RNA	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	358					oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11	all_epithelial(31;0.0021)|Breast(41;0.0124)					GTATCTTGTCTTCCAAAATTC	0.428000													26	151					0	0	1	0	0
CHSY3	337876	broad.mit.edu	37	5	129521095	129521095	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr5:129521095G>C	ENST00000305031.4	+	3	2618	c.2260G>C	c.(2260-2262)Gta>Cta	p.V754L		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	754						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		TGACCCAAAGGTAACAAACGG	0.398000													19	105					0	0	1	0	0
SULT1E1	6783	broad.mit.edu	37	4	70715267	70715267	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr4:70715267G>T	ENST00000226444.3	-	5	496	c.384C>A	c.(382-384)tgC>tgA	p.C128*		NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1	128					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						TTGCATTCCGGCAAAGATAGA	0.323000													8	28					5.18039e-06	6.12962e-06	1	1	0
IGKV2-24	28923	broad.mit.edu	37	2	89475825	89475825	+	RNA	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr2:89475825G>T	ENST00000484817.1	-	0	376																											AAATTGTGTAGCTTGCATGCA	0.517000													52	145					1.54886e-18	2.54786e-18	1	1	0
RBM25	58517	broad.mit.edu	37	14	73577824	73577824	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr14:73577824G>A	ENST00000261973.7	+	15	2263	c.1978G>A	c.(1978-1980)Gag>Aag	p.E660K	RBM25_ENST00000527432.1_Missense_Mutation_p.E660K|RBM25_ENST00000532483.1_3'UTR	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	660					apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		ACAGCAACCTGAGGAGCATAG	0.438000													7	43					0	0	1	0	0
CHRM2	1129	broad.mit.edu	37	7	136700293	136700293	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr7:136700293C>A	ENST00000445907.2	+	3	1209	c.681C>A	c.(679-681)aaC>aaA	p.N227K	CHRM2_ENST00000453373.1_Missense_Mutation_p.N227K|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000592183.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.N227K|AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.N227K|CHRM2_ENST00000402486.3_Missense_Mutation_p.N227K|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.N227K|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000598184.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	227					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	CTGTTGCCAACCAAGACCCCG	0.483000													8	47					0.00307968	0.00326242	1	1	0
NRXN3	9369	broad.mit.edu	37	14	80130247	80130247	+	Missense_Mutation	SNP	A	A	G			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr14:80130247A>G	ENST00000281127.7	+	3	1435	c.556A>G	c.(556-558)Acc>Gcc	p.T186A	NRXN3_ENST00000428277.2_Missense_Mutation_p.T186A|RP11-242P2.1_ENST00000553322.1_RNA|NRXN3_ENST00000335750.5_Missense_Mutation_p.T818A|NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000557594.1_Missense_Mutation_p.T186A|NRXN3_ENST00000554719.1_Missense_Mutation_p.T818A	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	186	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CGGCAACGCCACCCTGCAGGT	0.488000													5	61					0	0	1	0	0
ZNF260	339324	broad.mit.edu	37	19	37005004	37005004	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr19:37005004C>T	ENST00000523638.1	-	3	2258	c.1137G>A	c.(1135-1137)atG>atA	p.M379I	ZNF260_ENST00000593142.1_Missense_Mutation_p.M379I|ZNF260_ENST00000588993.1_Missense_Mutation_p.M379I|ZNF260_ENST00000592282.1_Missense_Mutation_p.M379I	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	379					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					TATGGATTCTCATGTGCAGAG	0.413000													20	139					0	0	1	0	0
SNRNP200	23020	broad.mit.edu	37	2	96950132	96950132	+	Silent	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr2:96950132C>A	ENST00000323853.5	-	31	4433	c.4356G>T	c.(4354-4356)gtG>gtT	p.V1452V	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1452	Helicase ATP-binding 2.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CCTCATCCACCACGAAGAGGT	0.557000													17	63					2.48551e-13	3.64421e-13	1	1	0
SOHLH2	54937	broad.mit.edu	37	13	36744674	36744674	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr13:36744674G>T	ENST00000379881.3	-	10	1339	c.1251C>A	c.(1249-1251)aaC>aaA	p.N417K	CCDC169-SOHLH2_ENST00000511166.1_Missense_Mutation_p.N494K|SOHLH2_ENST00000554962.1_Missense_Mutation_p.N494K	NM_017826.2	NP_060296.2			spermatogenesis and oogenesis specific basic helix-loop-helix 2											autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		TTACCAGACAGTTGGGATGTG	0.522000													9	52					0.000274275	0.000301058	1	1	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr12:25398285C>A	ENST00000311936.3	-	2	225	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000256078.4_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			13	20					2.23348e-06	2.68993e-06	1	1	0
PDCL3	79031	broad.mit.edu	37	2	101192951	101192951	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr2:101192951G>T	ENST00000264254.6	+	6	1091	c.713G>T	c.(712-714)gGt>gTt	p.G238V		NM_024065.4	NP_076970.1	Q9H2J4	PDCL3_HUMAN	phosducin-like 3	238					apoptosis|interspecies interaction between organisms	cytoplasm	protein binding			endometrium(3)|large_intestine(2)|liver(1)|lung(6)	12						GATTCCGAGGGTGACTGAGGC	0.458000													19	43					6.94344e-10	9.28341e-10	1	1	0
TRIM9	114088	broad.mit.edu	37	14	51448809	51448809	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr14:51448809G>T	ENST00000298355.3	-	8	2737	c.1616C>A	c.(1615-1617)gCt>gAt	p.A539D	TRIM9_ENST00000338969.5_Missense_Mutation_p.A620D	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	539	B30.2/SPRY.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					AGGGTCGAAAGCAAACCAGGC	0.537000													9	49					5.4927e-09	7.0339e-09	1	1	0
CLCNKB	1188	broad.mit.edu	37	1	16378257	16378257	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr1:16378257G>T	ENST00000375679.4	+	14	1461	c.1350G>T	c.(1348-1350)gaG>gaT	p.E450D	CLCNKB_ENST00000375667.3_Missense_Mutation_p.E281D	NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		TCTTCCCTGAGGGCATCGTGG	0.637000													39	78					4.92203e-23	8.51188e-23	1	1	0
PROKR1	10887	broad.mit.edu	37	2	68882274	68882274	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr2:68882274C>A	ENST00000303786.3	+	3	1168	c.748C>A	c.(748-750)Ctg>Atg	p.L250M	PROKR1_ENST00000394342.2_Missense_Mutation_p.L250M			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	250						integral to membrane|plasma membrane	neuropeptide Y receptor activity			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CACCATGACCCTGTGCTATGC	0.587000													29	88					1.77063e-15	2.77003e-15	1	1	0
CUL3	8452	broad.mit.edu	37	2	225362566	225362566	+	Splice_Site	SNP	C	C	G			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr2:225362566C>G	ENST00000264414.4	-	12	1949	c.1610_splice	c.e12-1	p.R537_splice	CUL3_ENST00000409096.1_Splice_Site_p.R513_splice|CUL3_ENST00000409777.1_Splice_Site_p.R513_splice|CUL3_ENST00000344951.4_Splice_Site_p.R471_splice	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	537					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CTAAGTAGAACCTTCAGTAAA	0.373000													17	50					0	0	1	0	0
DZANK1	55184	broad.mit.edu	37	20	18377163	18377163	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr20:18377163C>T	ENST00000357236.4	-	16	1881	c.1222G>A	c.(1222-1224)Ggt>Agt	p.G408S	DZANK1_ENST00000262547.5_Missense_Mutation_p.G522S|DZANK1_ENST00000329494.5_Missense_Mutation_p.G524S|DZANK1_ENST00000487128.1_5'UTR|DZANK1_ENST00000377630.5_Missense_Mutation_p.G355S			Q9NVP4	CT012_HUMAN	double zinc ribbon and ankyrin repeat domains 1	349						intracellular	zinc ion binding			NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						ACTTCACAACCATCTTCGTGG	0.383000													18	75					0	0	1	0	0
MEFV	4210	broad.mit.edu	37	16	3294277	3294277	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr16:3294277C>A	ENST00000219596.1	-	8	1775	c.1736G>T	c.(1735-1737)cGt>cTt	p.R579L	MEFV_ENST00000536379.1_Missense_Mutation_p.R368L|MEFV_ENST00000541159.1_Missense_Mutation_p.R368L|MEFV_ENST00000339854.4_Missense_Mutation_p.R399L	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	579					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	p.R579H(1)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	CATTTCTGAACGCAGGGTTTC	0.532000													5	41					1.024e-07	1.28158e-07	1	1	0
SHFM1	7979	broad.mit.edu	37	7	96279825	96279825	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr7:96279825C>G	ENST00000444799.1	-	3	271	c.177G>C	c.(175-177)gaG>gaC	p.E59D	SHFM1_ENST00000417009.1_Intron|RP11-682N22.1_ENST00000606019.1_lincRNA			P60896	DSS1_HUMAN	split hand/foot malformation (ectrodactyly) type 1	59					proteolysis	proteasome complex	peptidase activity|protein binding			breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_cancers(62;4.24e-09)|all_epithelial(64;5.59e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0353)|Lung NSC(181;0.0987)					AGGGCTTTTTCTCACAGCTTT	0.433000								Homologous recombination					4	9					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168100393	168100393	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr2:168100393G>T	ENST00000409195.1	+	9	2580	c.2491G>T	c.(2491-2493)Gaa>Taa	p.E831*	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Nonsense_Mutation_p.E831*|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Nonsense_Mutation_p.E609*|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	656					actin cytoskeleton organization	cell junction	actin binding	p.E831K(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CATTGAAAAGGAAAAAATAAT	0.388000													40	85					2.05212e-20	3.46974e-20	1	1	0
AMOT	154796	broad.mit.edu	37	X	112022847	112022847	+	Silent	SNP	T	T	C			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chrX:112022847T>C	ENST00000371959.3	-	10	2534	c.2535A>G	c.(2533-2535)ccA>ccG	p.P845P	AMOT_ENST00000304758.1_Silent_p.P436P|AMOT_ENST00000524145.1_Silent_p.P845P|AMOT_ENST00000371962.1_Silent_p.P613P	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	845					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						GAGTCGAGGGTGGCACAGGCG	0.532000													27	40					0	0	1	0	0
LPAL2	80350	broad.mit.edu	37	6	160903793	160903793	+	RNA	SNP	A	A	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr6:160903793A>T	ENST00000335388.5	-	0	1090					NR_028092.1															large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		ATGTGCCTCGATAACTCTGTC	0.473000													49	225					0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108385583	108385583	+	Silent	SNP	G	G	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr11:108385583G>A	ENST00000265843.4	-	6	761	c.651C>T	c.(649-651)agC>agT	p.S217S	EXPH5_ENST00000443411.1_Silent_p.S29S|EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000428840.1_Silent_p.S141S|EXPH5_ENST00000525344.1_Silent_p.S210S	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	217					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		GAGCCAATTTGCTATCCAAGT	0.368000													48	54					0	0	1	0	0
ABRA	137735	broad.mit.edu	37	8	107782146	107782146	+	Missense_Mutation	SNP	A	A	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr8:107782146A>T	ENST00000311955.3	-	1	327	c.273T>A	c.(271-273)gaT>gaA	p.D91E		NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	91					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			AGCTTTGTCCATCTCCATGTC	0.522000													11	144					0	0	1	0	0
GPA33	10223	broad.mit.edu	37	1	167032843	167032843	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr1:167032843G>A	ENST00000367868.3	-	4	890	c.547C>T	c.(547-549)Cag>Tag	p.Q183*	GPA33_ENST00000527955.1_5'UTR	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)	183	Ig-like C2-type.					integral to plasma membrane	receptor activity			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						GGCTGCTCCTGATTCAGGATG	0.577000													17	113					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113293468	113293468	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr8:113293468G>A	ENST00000297405.5	-	59	9687	c.9443C>T	c.(9442-9444)tCt>tTt	p.S3148F	CSMD3_ENST00000455883.2_Missense_Mutation_p.S2979F|CSMD3_ENST00000352409.3_Missense_Mutation_p.S3078F|CSMD3_ENST00000343508.3_Missense_Mutation_p.S3108F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3148	Sushi 23.					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						TGAAGGTCCAGAAAGGATGTA	0.398000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			14	98					0	0	1	0	0
SPTBN1	6711	broad.mit.edu	37	2	54873547	54873547	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr2:54873547G>C	ENST00000333896.5	+	22	5147	c.4762G>C	c.(4762-4764)Gct>Cct	p.A1588P	SPTBN1_ENST00000356805.4_Missense_Mutation_p.A1601P	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1601	Interaction with ANK2.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CTACTTTGACGCTGCTGAGGC	0.612000													7	26					0	0	1	0	0
GABRA6	2559	broad.mit.edu	37	5	161116329	161116329	+	Silent	SNP	C	C	G	rs139264126	by1000genomes	TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr5:161116329C>G	ENST00000523217.1	+	5	728	c.486C>G	c.(484-486)ctC>ctG	p.L162L	GABRA6_ENST00000274545.5_Silent_p.L172L|RP11-348M17.2_ENST00000521984.1_RNA	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	172					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CTTGTCCACTCAAGTTTGGGA	0.393000										TCGA Ovarian(5;0.080)			22	70					0	0	1	0	0
LRRCC1	85444	broad.mit.edu	37	8	86027748	86027748	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr8:86027748C>G	ENST00000414626.2	+	5	1688	c.799C>G	c.(799-801)Cat>Gat	p.H267D	LRRCC1_ENST00000360375.3_Missense_Mutation_p.H287D			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	287					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						GAAAAATAATCATGAAAACGA	0.348000													11	65					0	0	1	0	0
WDFY1	57590	broad.mit.edu	37	2	224760284	224760284	+	Missense_Mutation	SNP	T	T	C			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr2:224760284T>C	ENST00000233055.4	-	7	764	c.662A>G	c.(661-663)aAc>aGc	p.N221S		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	221						cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		GATGATGCTGTTGTCAGATGC	0.557000													25	68					0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46279894	46279894	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr20:46279894C>G	ENST00000372004.3	+	20	4024	c.3808C>G	c.(3808-3810)Cag>Gag	p.Q1270E	NCOA3_ENST00000371997.3_Missense_Mutation_p.Q1265E|NCOA3_ENST00000371998.3_Missense_Mutation_p.Q1274E|NCOA3_ENST00000341724.6_Missense_Mutation_p.Q1200E	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1274	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						acagcagcaacagcagcaAAC	0.582000													29	64					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33954942	33954942	+	Silent	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr15:33954942G>T	ENST00000389232.4	+	35	5281	c.5211G>T	c.(5209-5211)gtG>gtT	p.V1737V	RYR3_ENST00000415757.3_Silent_p.V1737V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1737	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCATGGGCGTGTTTGATGATG	0.562000													26	57					1.55469e-16	2.45117e-16	1	1	0
RGS14	10636	broad.mit.edu	37	5	176793205	176793205	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr5:176793205G>T	ENST00000408923.3	+	3	283	c.95G>T	c.(94-96)gGc>gTc	p.G32V		NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	regulator of G-protein signaling 14	32					chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGCCCCAGGGCCAGGGCGAG	0.706000													9	19					5.4927e-09	7.0339e-09	1	1	0
ERBB4	2066	broad.mit.edu	37	2	212522711	212522711	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr2:212522711C>A	ENST00000402597.1	-	16	1879	c.1880G>T	c.(1879-1881)gGc>gTc	p.G627V	ERBB4_ENST00000342788.4_Intron|ERBB4_ENST00000436443.1_Intron			Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	627	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		AATACTTGAGCCTATGCACCT	0.383000										TSP Lung(8;0.080)			12	47					3.07112e-06	3.68413e-06	1	1	0
EGF	1950	broad.mit.edu	37	4	110925712	110925712	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr4:110925712C>A	ENST00000265171.5	+	22	3670	c.3225C>A	c.(3223-3225)agC>agA	p.S1075R	EGF_ENST00000509793.1_Missense_Mutation_p.S1033R|EGF_ENST00000503392.1_Missense_Mutation_p.S1034R	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	1075					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	p.S1075R(1)		breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	AGGAGTCGAGCAGAGATGTGA	0.453000													28	86					3.73148e-12	5.342e-12	1	1	0
CMYA5	202333	broad.mit.edu	37	5	79034733	79034733	+	Missense_Mutation	SNP	A	A	C			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr5:79034733A>C	ENST00000446378.2	+	2	10176	c.10145A>C	c.(10144-10146)gAa>gCa	p.E3382A		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3382						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)		TTCCCGGAGGAAGAATTTGCA	0.488000													25	79					0	0	1	0	0
ZNF175	7728	broad.mit.edu	37	19	52091501	52091501	+	Silent	SNP	A	A	G			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr19:52091501A>G	ENST00000262259.2	+	5	2275	c.1917A>G	c.(1915-1917)ggA>ggG	p.G639G	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	639					response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		CTCACATGGGAGAGAAACCCT	0.428000													25	99					0	0	1	0	0
ZNF473	25888	broad.mit.edu	37	19	50548853	50548853	+	Missense_Mutation	SNP	A	A	G			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr19:50548853A>G	ENST00000595661.1	+	6	1648	c.1153A>G	c.(1153-1155)Agg>Ggg	p.R385G	CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000391821.2_Missense_Mutation_p.R385G|ZNF473_ENST00000445728.3_Missense_Mutation_p.R373G|ZNF473_ENST00000270617.3_Missense_Mutation_p.R385G			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	385	Interaction with SLBP/pre-mRNA complex.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		GAAGATTTTTAGGCACAGTTC	0.478000													35	60					0	0	1	0	0
ACTN1	87	broad.mit.edu	37	14	69349638	69349638	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr14:69349638G>C	ENST00000193403.6	-	15	2153	c.1770C>G	c.(1768-1770)aaC>aaG	p.N590K	ACTN1_ENST00000376839.3_Missense_Mutation_p.N525K|ACTN1_ENST00000538545.2_Missense_Mutation_p.N590K|ACTN1_ENST00000394419.4_Missense_Mutation_p.N590K|ACTN1_ENST00000438964.2_Missense_Mutation_p.N590K	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	590	Interaction with DDN.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		TTGTGTAGGGGTTGGTGCCCG	0.557000													14	68					0	0	1	0	0
OR2T34	127068	broad.mit.edu	37	1	248738039	248738039	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr1:248738039G>T	ENST00000328782.2	-	1	41	c.20C>A	c.(19-21)aCt>aAt	p.T7N		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	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)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATTCTGAGAAGTCTGATTCCC	0.448000													7	138					0.00829132	0.00867729	1	1	0
CYTIP	9595	broad.mit.edu	37	2	158275081	158275081	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr2:158275081C>A	ENST00000264192.3	-	7	688	c.567G>T	c.(565-567)tgG>tgT	p.W189C	CYTIP_ENST00000540637.1_Missense_Mutation_p.W83C	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	189					regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						TGTACTCCACCCATTTTTGTT	0.333000													8	134					5.18039e-06	6.12962e-06	1	1	0
CACNA1I	8911	broad.mit.edu	37	22	40059774	40059774	+	Silent	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr22:40059774C>A	ENST00000336649.4	+	22	3543	c.3543C>A	c.(3541-3543)gtC>gtA	p.V1181V	CACNA1I_ENST00000407673.1_Silent_p.V1140V|CACNA1I_ENST00000404898.1_Silent_p.V1140V|CACNA1I_ENST00000401624.1_Silent_p.V1175V|CACNA1I_ENST00000400164.3_Silent_p.V1140V|CACNA1I_ENST00000402142.3_Silent_p.V1175V			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1175					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	TCGACTACGTCGTCCTGGCCT	0.632000													51	63					1.86633e-21	3.20018e-21	1	1	0
EPX	8288	broad.mit.edu	37	17	56274299	56274299	+	Splice_Site	SNP	G	G	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr17:56274299G>A	ENST00000225371.5	+	7	911		c.e7-1			NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase						hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						TTCCATCTCAGATCCCACCCA	0.547000													39	117					0	0	1	0	0
NOS2	4843	broad.mit.edu	37	17	26110107	26110107	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr17:26110107T>A	ENST00000313735.6	-	6	726	c.493A>T	c.(493-495)Agg>Tgg	p.R165W		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	165					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	GCTTCCACCCTGGCCAGATGT	0.517000													23	91					0	0	1	0	0
SMPD4	55627	broad.mit.edu	37	2	130911949	130911949	+	Silent	SNP	C	C	G			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr2:130911949C>G	ENST00000409031.1	-	16	2825	c.1677G>C	c.(1675-1677)gcG>gcC	p.A559A	SMPD4_ENST00000339679.7_Silent_p.A417A|SMPD4_ENST00000452225.2_Silent_p.A300A|SMPD4_ENST00000453750.1_Silent_p.A308A|SMPD4_ENST00000351288.6_Silent_p.A530A|SMPD4_ENST00000431183.2_Silent_p.A457A|SMPD4_ENST00000443958.2_Silent_p.A223A|SMPD4_ENST00000426662.2_Silent_p.A195A	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	520					sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	CATCAGTGACCGCTGGTGGCC	0.637000													4	19					0	0	1	0	0
IL17RE	132014	broad.mit.edu	37	3	9956202	9956202	+	Missense_Mutation	SNP	T	T	C			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr3:9956202T>C	ENST00000454190.2	+	14	1425	c.1340T>C	c.(1339-1341)cTc>cCc	p.L447P	IL17RE_ENST00000295980.3_Intron|IL17RE_ENST00000383814.3_Intron|IL17RE_ENST00000421412.1_Intron	NM_001193380.1	NP_001180309.1	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E	0						cytoplasm|extracellular region|integral to membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1)	21				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		GATGCCTGGCTCATAGGGGTG	0.617000													8	107					0	0	1	0	0
OR2G6	391211	broad.mit.edu	37	1	248685090	248685090	+	Missense_Mutation	SNP	T	T	C			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr1:248685090T>C	ENST00000343414.4	+	1	175	c.143T>C	c.(142-144)gTa>gCa	p.V48A		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	48					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)			CTCATACTAGTATGTTGTCTG	0.483000													62	75					0	0	1	0	0
CPN1	1369	broad.mit.edu	37	10	101829626	101829626	+	Splice_Site	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr10:101829626C>A	ENST00000370418.3	-	3	672	c.420_splice	c.e3-1	p.G141_splice		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	141	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		TTGTTTGGGCCCTAAAGGAAA	0.398000													23	44					2.32416e-17	3.73218e-17	1	1	0
SLC44A5	204962	broad.mit.edu	37	1	75766357	75766357	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr1:75766357C>A	ENST00000370855.5	-	5	228	c.115G>T	c.(115-117)Gtt>Ttt	p.V39F	SLC44A5_ENST00000370859.3_Missense_Mutation_p.V39F|SLC44A5_ENST00000535611.1_5'UTR|SLC44A5_ENST00000469525.1_5'UTR	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	39						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						CAGCACAGAACATCTGTACAA	0.333000													8	33					1.12685e-05	1.29545e-05	1	1	0
UBR4	23352	broad.mit.edu	37	1	19468001	19468001	+	Silent	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr1:19468001C>A	ENST00000375267.2	-	57	8331	c.8328G>T	c.(8326-8328)ctG>ctT	p.L2776L	UBR4_ENST00000375254.3_Silent_p.L2776L|UBR4_ENST00000375217.2_Silent_p.L2804L|UBR4_ENST00000375226.2_Silent_p.L2787L			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2776					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CAGCTGTCTCCAGGACCATCG	0.547000													12	74					5.50884e-06	6.4429e-06	1	1	0
SEL1L2	80343	broad.mit.edu	37	20	13846030	13846030	+	Missense_Mutation	SNP	A	A	G			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr20:13846030A>G	ENST00000284951.5	-	16	1609	c.1535T>C	c.(1534-1536)gTa>gCa	p.V512A	SEL1L2_ENST00000378072.5_Intron|SEL1L2_ENST00000486903.1_Intron			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	512						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						GCTTTGAGCTACTTCATACCC	0.383000													24	83					0	0	1	0	0
NAT10	55226	broad.mit.edu	37	11	34133651	34133651	+	Silent	SNP	C	C	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr11:34133651C>T	ENST00000257829.3	+	4	459	c.253C>T	c.(253-255)Ctg>Ttg	p.L85L	NAT10_ENST00000531159.2_Silent_p.L13L|NAT10_ENST00000527971.1_Silent_p.L85L	NM_024662.2	NP_078938.2	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	85						nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				GAATGGAACACTGAACATAAA	0.473000													4	47					0	0	1	0	0
PRDM5	11107	broad.mit.edu	37	4	121706218	121706218	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr4:121706218C>A	ENST00000264808.3	-	11	1457	c.1217G>T	c.(1216-1218)tGt>tTt	p.C406F	PRDM5_ENST00000515109.1_Missense_Mutation_p.C375F|PRDM5_ENST00000428209.2_Missense_Mutation_p.C375F	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	406					histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ACATTCTTCACATTGGAACGG	0.438000													20	59					2.21704e-12	3.18142e-12	1	1	0
SLC35F3	148641	broad.mit.edu	37	1	234367440	234367440	+	Silent	SNP	G	G	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr1:234367440G>A	ENST00000366618.3	+	3	706	c.561G>A	c.(559-561)ggG>ggA	p.G187G	SLC35F3_ENST00000366617.3_Silent_p.G118G	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	118					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			ACTACGTGGGGCACGTCTGCA	0.582000													36	226					0	0	1	0	0
ELSPBP1	64100	broad.mit.edu	37	19	48517565	48517565	+	Splice_Site	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr19:48517565G>T	ENST00000339841.2	+	3	386	c.208_splice	c.e3+1	p.D70_splice	ELSPBP1_ENST00000597519.1_Intron	NM_022142.4	NP_071425.3	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1	70	Fibronectin type-II 2.				single fertilization	extracellular region				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		CCAGAGTGAAGGTGAGTGGTA	0.478000													19	59					5.03518e-11	6.97798e-11	1	1	0
OR7G3	390883	broad.mit.edu	37	19	9236778	9236778	+	Silent	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr19:9236778G>T	ENST00000305444.2	-	1	848	c.849C>A	c.(847-849)ccC>ccA	p.P283P		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						GGTTCAGCATGGGGGTGACCA	0.468000													25	61					5.35047e-06	6.31855e-06	1	1	0
C15orf53	400359	broad.mit.edu	37	15	38990648	38990648	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr15:38990648G>C	ENST00000318792.1	+	2	452	c.442G>C	c.(442-444)Ggg>Cgg	p.G148R		NM_207444.2	NP_997327.1	Q8NAA6	CO053_HUMAN	chromosome 15 open reading frame 53	148										endometrium(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	6		all_cancers(109;1.75e-13)|all_epithelial(112;1.02e-11)|Lung NSC(122;1.9e-09)|all_lung(180;4.04e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;8.39e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0321)		ATGTGTCTGTGGGGGCTGCTA	0.572000													13	23					0	0	1	0	0
GGTLC1	92086	broad.mit.edu	37	20	23966569	23966569	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr20:23966569C>A	ENST00000335694.4	-	4	551	c.347G>T	c.(346-348)gGc>gTc	p.G116V	GGTLC1_ENST00000286890.4_Missense_Mutation_p.G116V|GGTLC1_ENST00000278765.4_Missense_Mutation_p.G116V	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	116							gamma-glutamyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						GCCGTCCTGGCCCACCATGAT	0.662000													42	132					2.51966e-14	3.85248e-14	1	1	0
ANKRD28	23243	broad.mit.edu	37	3	15720997	15720997	+	Silent	SNP	T	T	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr3:15720997T>A	ENST00000399451.2	-	22	2740	c.2373A>T	c.(2371-2373)ccA>ccT	p.P791P	ANKRD28_ENST00000383777.1_Silent_p.P824P|ANKRD28_ENST00000497037.1_5'UTR	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	791						nucleoplasm	protein binding			breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						CACAATGCAATGGACTAAAAG	0.378000													33	35					0	0	1	0	0
DAOA	267012	broad.mit.edu	37	13	106118652	106118652	+	Silent	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr13:106118652G>T	ENST00000375936.3	+	1	61	c.15G>T	c.(13-15)ctG>ctT	p.L5L	DAOA_ENST00000329625.5_5'UTR|DAOA-AS1_ENST00000448407.1_RNA	NM_001161812.1|NM_172370.3	NP_001155284.1|NP_758958.3	P59103	DAOA_HUMAN	D-amino acid oxidase activator	5						Golgi apparatus				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	13	Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					tggaaaagctgatgggtgctg	0.507000													12	60					7.93312e-07	9.70848e-07	1	1	0
ZNF425	155054	broad.mit.edu	37	7	148801537	148801537	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr7:148801537C>A	ENST00000378061.2	-	4	1558	c.1426G>T	c.(1426-1428)Ggc>Tgc	p.G476C		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	476					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			AAGCGCTTGCCGCACTCGGCG	0.642000													15	50					7.93312e-07	9.70848e-07	1	1	0
KRTAP10-10	353333	broad.mit.edu	37	21	46057540	46057540	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr21:46057540C>A	ENST00000380095.1	+	1	268	c.206C>A	c.(205-207)tCc>tAc	p.S69Y	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	69	15 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						TACACCAGCTCCTGCACAACC	0.657000													143	74					4.08312e-59	7.76944e-59	1	1	0
KDM7A	80853	broad.mit.edu	37	7	139820322	139820322	+	Silent	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr7:139820322G>T	ENST00000397560.2	-	8	1156	c.1059C>A	c.(1057-1059)atC>atA	p.I353I	JHDM1D_ENST00000006967.5_Silent_p.I353I	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN		353	JmjC.				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					GCACAGCATGGATCCACCCTA	0.378000													17	40					1.00905e-13	1.50489e-13	1	1	0
CSMD3	114788	broad.mit.edu	37	8	114448927	114448927	+	Missense_Mutation	SNP	A	A	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr8:114448927A>T	ENST00000297405.5	-	1	401	c.157T>A	c.(157-159)Ttg>Atg	p.L53M	CSMD3_ENST00000455883.2_Missense_Mutation_p.L53M|CSMD3_ENST00000352409.3_Missense_Mutation_p.L53M	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	53						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						GACACCGTCAATAAAAAGACG	0.493000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			47	351					0	0	1	0	0
IGKV2D-24	28885	broad.mit.edu	37	2	90044322	90044322	+	RNA	SNP	T	T	C			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr2:90044322T>C	ENST00000462693.1	+	0	273																											ACCGGTTCTCTGGGGTCCCAG	0.522000													52	190					0	0	1	0	0
CERCAM	51148	broad.mit.edu	37	9	131197999	131197999	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr9:131197999G>C	ENST00000372842.1	+	13	4513	c.1369G>C	c.(1369-1371)Gcc>Ccc	p.A457P	CERCAM_ENST00000372838.4_Missense_Mutation_p.A535P			Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	535					cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						CCTGCTCGCTGCCCCTACCCA	0.637000													14	15					0	0	1	0	0
CCDC150	284992	broad.mit.edu	37	2	197584323	197584323	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr2:197584323G>T	ENST00000389175.4	+	19	2233	c.2098G>T	c.(2098-2100)Gct>Tct	p.A700S	CCDC150_ENST00000272831.7_Missense_Mutation_p.A347S|CCDC150_ENST00000409270.1_Missense_Mutation_p.A187S|CCDC150_ENST00000487663.1_3'UTR	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	700										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GATGCAAGGTGCTCTGGAGAA	0.448000													6	25					0.0215528	0.0222114	1	1	0
ZNF208	7757	broad.mit.edu	37	19	22154265	22154265	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr19:22154265G>T	ENST00000397126.4	-	4	3719	c.3571C>A	c.(3571-3573)Cat>Aat	p.H1191N	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208									p.H1063Y(2)|p.H1191Y(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TCTCCAGTATGAATTACCTTA	0.363000													10	34					9.70103e-10	1.29418e-09	1	1	0
NLRP3	114548	broad.mit.edu	37	1	247588649	247588649	+	Missense_Mutation	SNP	A	A	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr1:247588649A>T	ENST00000366497.2	+	4	2684	c.1904A>T	c.(1903-1905)tAc>tTc	p.Y635F	NLRP3_ENST00000366496.2_Missense_Mutation_p.Y635F|NLRP3_ENST00000391828.3_Missense_Mutation_p.Y635F|NLRP3_ENST00000336119.3_Missense_Mutation_p.Y635F|NLRP3_ENST00000391827.2_Missense_Mutation_p.Y635F|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Missense_Mutation_p.Y635F	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	635					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TACTGTTTGTACGAGATGCAG	0.478000													38	36					0	0	1	0	0
LIG1	3978	broad.mit.edu	37	19	48620982	48620982	+	Silent	SNP	G	G	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr19:48620982G>A	ENST00000263274.7	-	26	2915	c.2496C>T	c.(2494-2496)ccC>ccT	p.P832P	LIG1_ENST00000536218.1_Silent_p.P764P|LIG1_ENST00000427526.2_Silent_p.P801P	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	832					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	GCCAGTGGTCGGGAATCACAG	0.642000								Nucleotide excision repair (NER)					6	12					0	0	1	0	0
GPR125	166647	broad.mit.edu	37	4	22415260	22415260	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr4:22415260G>C	ENST00000334304.5	-	13	2256	c.1987C>G	c.(1987-1989)Cgt>Ggt	p.R663G	GPR125_ENST00000282943.5_5'UTR	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	663					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				ACCACAGTACGTCGTTTTCCA	0.418000													28	94					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197071303	197071303	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr1:197071303C>A	ENST00000367409.4	-	18	7334	c.7078G>T	c.(7078-7080)Gcc>Tcc	p.A2360S	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2360	IQ 23.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ACAACGGAGGCCTGTTTCAAA	0.453000													26	181					1.42536e-11	1.99353e-11	1	1	0
ZC3H12B	340554	broad.mit.edu	37	X	64708993	64708993	+	Silent	SNP	G	G	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chrX:64708993G>A	ENST00000338957.4	+	1	379	c.312G>A	c.(310-312)ttG>ttA	p.L104L	ZC3H12B_ENST00000423889.3_Silent_p.L93L	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	93							endonuclease activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AACTTGACTTGGAGAAGGAAT	0.488000													50	50					0	0	1	0	0
BTBD17	388419	broad.mit.edu	37	17	72356188	72356188	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr17:72356188G>T	ENST00000375366.3	-	2	408	c.282C>A	c.(280-282)ttC>ttA	p.F94L		NM_001080466.1	NP_001073935.1	A6NE02	BTBDH_HUMAN	BTB (POZ) domain containing 17	94	BTB.					extracellular region				endometrium(1)|kidney(1)|lung(4)	6						GCAGCTCCAGGAACAGCTCAC	0.637000													16	48					2.31682e-05	2.61396e-05	1	1	0
STK32B	55351	broad.mit.edu	37	4	5053597	5053597	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr4:5053597G>T	ENST00000282908.5	+	1	429	c.7G>T	c.(7-9)Ggg>Tgg	p.G3W		NM_018401.1	NP_060871.1	Q9NY57	ST32B_HUMAN	serine/threonine kinase 32B	3							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						GAATATGGGCGGGAACCACTC	0.667000													4	13					0.00024832	0.000273062	1	1	0
PCDH19	57526	broad.mit.edu	37	X	99596976	99596976	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chrX:99596976G>T	ENST00000373034.4	-	5	4448	c.2773C>A	c.(2773-2775)Ctg>Atg	p.L925M	PCDH19_ENST00000420881.2_Missense_Mutation_p.L877M|PCDH19_ENST00000255531.7_Missense_Mutation_p.L878M	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	925					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TCACAATACAGGCTCCGCTGG	0.507000													26	22					1.66031e-10	2.25965e-10	1	1	0
AMPD1	270	broad.mit.edu	37	1	115217373	115217373	+	Splice_Site	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr1:115217373C>A	ENST00000369538.3	-	12	1934	c.1887_splice	c.e12+1	p.K629_splice	AMPD1_ENST00000353928.6_Splice_Site_p.K600_splice|AMPD1_ENST00000520113.2_Splice_Site_p.K633_splice	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	600					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	TCCAACTCACCTTTTTTAAAT	0.418000													5	60					0.217242	0.217601	1	1	0
WDFY3	23001	broad.mit.edu	37	4	85729569	85729569	+	Splice_Site	SNP	G	G	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr4:85729569G>A	ENST00000322366.6	-	15	2754	c.2345_splice	c.e15-1	p.R783_splice	WDFY3-AS1_ENST00000510449.1_RNA|WDFY3_ENST00000295888.4_Splice_Site_p.R783_splice			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	783						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TGTTCTGCACGACTACAGACA	0.458000													15	152					0	0	1	0	0
HIST1H2BC	8347	broad.mit.edu	37	6	26123855	26123855	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr6:26123855C>A	ENST00000314332.5	-	1	283	c.278G>T	c.(277-279)aGg>aTg	p.R93M	HIST1H2BC_ENST00000396984.1_Missense_Mutation_p.R93M			P62807	H2B1C_HUMAN	histone cluster 1, H2bc	93					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	16						CTGGATCTCCCTGGAGGTGAT	0.607000													29	130					1.2476e-16	1.97726e-16	1	1	0
SLC5A7	60482	broad.mit.edu	37	2	108618413	108618413	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr2:108618413G>T	ENST00000264047.2	+	6	934	c.658G>T	c.(658-660)Gtg>Ttg	p.V220L	SLC5A7_ENST00000540517.1_Missense_Mutation_p.V115L|SLC5A7_ENST00000409059.1_Missense_Mutation_p.V220L	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	220					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	GTTCACTGCTGTGCATGCCAA	0.488000													17	93					1.45105e-14	2.22984e-14	1	1	0
MST1L	11223	broad.mit.edu	37	1	17084254	17084254	+	RNA	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr1:17084254G>T	ENST00000455405.2	-	0	554																											CTTACCTTTGGTCTCACCCCA	0.602000													25	465					1.75199e-13	2.58748e-13	1	1	0
AMPD1	270	broad.mit.edu	37	1	115217372	115217372	+	Splice_Site	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr1:115217372C>A	ENST00000369538.3	-	12	1935		c.e12+1		AMPD1_ENST00000353928.6_Splice_Site|AMPD1_ENST00000520113.2_Splice_Site	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1						purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	TTCCAACTCACCTTTTTTAAA	0.423000													6	61					0.0293803	0.0301248	1	1	0
DAB1	1600	broad.mit.edu	37	1	57480937	57480937	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr1:57480937G>C	ENST00000371236.2	-	12	1326	c.1063C>G	c.(1063-1065)Cca>Gca	p.P355A	DAB1_ENST00000371231.1_Missense_Mutation_p.P388A|DAB1_ENST00000420954.2_Missense_Mutation_p.P353A|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000414851.2_Missense_Mutation_p.P337A|DAB1_ENST00000371234.4_Missense_Mutation_p.P355A|DAB1_ENST00000439789.2_Missense_Mutation_p.P269A			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	388					cell differentiation|nervous system development			p.P355S(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GCCACAGTTGGCCAGGGCTGC	0.652000													25	87					0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45820197	45820197	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr21:45820197G>T	ENST00000397928.1	+	15	2709	c.2264G>T	c.(2263-2265)cGt>cTt	p.R755L	TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Missense_Mutation_p.R755L|TRPM2_ENST00000300482.5_Missense_Mutation_p.R755L|TRPM2_ENST00000300481.9_Missense_Mutation_p.R735L	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	755						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GGGCTGTGGCGTGTGACCCTG	0.687000													32	36					1.30293e-26	2.32612e-26	1	1	0
PCDHGA7	56108	broad.mit.edu	37	5	140764433	140764433	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr5:140764433C>A	ENST00000518325.1	+	1	1967	c.1967C>A	c.(1966-1968)gCc>gAc	p.A656D	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCTGTCAGCCACCGTCACA	0.657000													7	58					0.00198382	0.00211631	1	1	0
BZRAP1	9256	broad.mit.edu	37	17	56387495	56387495	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr17:56387495C>A	ENST00000355701.3	-	21	4594	c.3724G>T	c.(3724-3726)Gtt>Ttt	p.V1242F	BZRAP1_ENST00000268893.6_Missense_Mutation_p.V1182F|BZRAP1_ENST00000343736.4_Missense_Mutation_p.V1242F	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1242						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACCAGATGAACCCCAAGCTCT	0.597000													17	67					8.00594e-06	9.30959e-06	1	1	0
GRIA3	2892	broad.mit.edu	37	X	122538599	122538599	+	Missense_Mutation	SNP	T	T	G			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chrX:122538599T>G	ENST00000264357.5	+	10	1626	c.1334T>G	c.(1333-1335)cTg>cGg	p.L445R	GRIA3_ENST00000541091.1_Missense_Mutation_p.L429R|GRIA3_ENST00000371251.1_Missense_Mutation_p.L445R|GRIA3_ENST00000371256.5_Missense_Mutation_p.L445R|GRIA3_ENST00000542149.1_Missense_Mutation_p.L445R	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	445					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	CATGAGCAACTGGAAGGAAAT	0.378000													14	79					0	0	1	0	0
ENTHD1	150350	broad.mit.edu	37	22	40216998	40216998	+	Splice_Site	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr22:40216998C>A	ENST00000325157.6	-	5	1082	c.832_splice	c.e5+1	p.D278_splice		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	278										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					ACCAATTTACCTGCACCCGAA	0.393000													8	30					5.18039e-06	6.12962e-06	1	1	0
SPEG	10290	broad.mit.edu	37	2	220329240	220329240	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr2:220329240G>T	ENST00000312358.7	+	9	2923	c.2791G>T	c.(2791-2793)Gct>Tct	p.A931S	SPEG_ENST00000396686.1_Missense_Mutation_p.A82S|SPEG_ENST00000396688.1_Missense_Mutation_p.A82S|SPEG_ENST00000396689.2_Missense_Mutation_p.A82S|SPEG_ENST00000396695.2_Missense_Mutation_p.A139S|SPEG_ENST00000396698.1_Missense_Mutation_p.A827S|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	931	Ig-like 3.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GCGGATCCTGGCTGCAGAGCG	0.647000													19	70					6.49762e-13	9.41302e-13	1	1	0
SPATA17	128153	broad.mit.edu	37	1	217856598	217856598	+	Splice_Site	SNP	A	A	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr1:217856598A>T	ENST00000366933.4	+	5	346		c.e5-1			NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17							cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		TTACTTTAATAGATTCAGAGA	0.313000													18	131					0	0	1	0	0
DEPDC5	9681	broad.mit.edu	37	22	32242824	32242824	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr22:32242824G>C	ENST00000400246.1	+	31	3168	c.3026G>C	c.(3025-3027)gGg>gCg	p.G1009A	DEPDC5_ENST00000535622.1_Missense_Mutation_p.G931A|DEPDC5_ENST00000382111.2_Missense_Mutation_p.G1009A|DEPDC5_ENST00000382112.3_Missense_Mutation_p.G1000A|DEPDC5_ENST00000266091.3_Missense_Mutation_p.G1009A|DEPDC5_ENST00000382105.2_Missense_Mutation_p.G931A|DEPDC5_ENST00000400249.2_Missense_Mutation_p.G1000A|DEPDC5_ENST00000400248.1_Missense_Mutation_p.G1000A			O75140	DEPD5_HUMAN	DEP domain containing 5	1000					intracellular signal transduction			p.G1000E(1)|p.G931E(1)		breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CTTTAGAAAGGGACCGCCATG	0.582000													15	36					0	0	1	0	0
IGHM	3507	broad.mit.edu	37	14	106320570	106320570	+	RNA	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr14:106320570C>A	ENST00000390559.2	-	0	1239																											TGGGCCACCACGCAGGTGTAG	0.642000													24	38					7.87624e-14	1.18046e-13	1	1	0
TMPRSS13	84000	broad.mit.edu	37	11	117785164	117785164	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr11:117785164C>A	ENST00000528626.1	-	3	590	c.517G>T	c.(517-519)Gct>Tct	p.A173S	TMPRSS13_ENST00000430170.2_Missense_Mutation_p.A208S|TMPRSS13_ENST00000526090.1_Missense_Mutation_p.A208S|TMPRSS13_ENST00000524993.1_Missense_Mutation_p.A208S|TMPRSS13_ENST00000445164.2_Missense_Mutation_p.A208S	NM_001206789.1	NP_001193718.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	203					proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		CAGCGAACAGCGTGCTTGGGA	0.617000													70	185					2.92363e-43	5.4773e-43	1	1	0
CHGB	1114	broad.mit.edu	37	20	5903217	5903217	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr20:5903217C>A	ENST00000378961.4	+	4	631	c.427C>A	c.(427-429)Ccc>Acc	p.P143T		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	143						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GAGCCTCTATCCCTCCGACAG	0.572000													16	28					1.5739e-10	2.1517e-10	1	1	0
SMPD4	55627	broad.mit.edu	37	2	130911948	130911948	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr2:130911948C>T	ENST00000409031.1	-	16	2826	c.1678G>A	c.(1678-1680)Gtc>Atc	p.V560I	SMPD4_ENST00000339679.7_Missense_Mutation_p.V418I|SMPD4_ENST00000452225.2_Missense_Mutation_p.V301I|SMPD4_ENST00000453750.1_Missense_Mutation_p.V309I|SMPD4_ENST00000351288.6_Missense_Mutation_p.V531I|SMPD4_ENST00000431183.2_Missense_Mutation_p.V458I|SMPD4_ENST00000443958.2_Missense_Mutation_p.V224I|SMPD4_ENST00000426662.2_Missense_Mutation_p.V196I	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	521					sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	GCATCAGTGACCGCTGGTGGC	0.637000													5	19					0	0	1	0	0
TDRD6	221400	broad.mit.edu	37	6	46656287	46656287	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr6:46656287C>A	ENST00000544460.1	+	1	676	c.422C>A	c.(421-423)gCg>gAg	p.A141E	TDRD6_ENST00000316081.6_Missense_Mutation_p.A141E	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	141					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GGCTGCGGCGCGGGCTCAGGC	0.701000													13	21					2.31682e-05	2.61396e-05	1	1	0
PAPPA2	60676	broad.mit.edu	37	1	176659474	176659474	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr1:176659474G>C	ENST00000367662.3	+	5	3503	c.2339G>C	c.(2338-2340)aGt>aCt	p.S780T	PAPPA2_ENST00000367661.3_Missense_Mutation_p.S780T	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	780					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ACTCCCAAGAGTGAGCTGTGC	0.587000													11	180					0	0	1	0	0
BAG6	7917	broad.mit.edu	37	6	31610072	31610072	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr6:31610072G>C	ENST00000404765.2	-	16	2441	c.2152C>G	c.(2152-2154)Cct>Gct	p.P718A	BAG6_ENST00000211379.5_Missense_Mutation_p.P682A|BAG6_ENST00000375976.4_Missense_Mutation_p.P682A|BAG6_ENST00000439687.2_Missense_Mutation_p.P556A|BAG6_ENST00000375964.6_Missense_Mutation_p.P688A|BAG6_ENST00000362049.6_Missense_Mutation_p.P682A|BAG6_ENST00000470875.1_5'UTR			P46379	BAG6_HUMAN	BCL2-associated athanogene 6	688					apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						AGGCCTCCAGGACTCCCTGCG	0.682000													4	17					0	0	1	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27998776	27998776	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chrX:27998776C>A	ENST00000441525.1	-	1	790	c.676G>T	c.(676-678)Gtg>Ttg	p.V226L		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	226										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						TTCTGCCGCACCCAGTCCCAC	0.512000													12	15					5.50884e-06	6.4429e-06	1	1	0
CACNA1E	777	broad.mit.edu	37	1	181764058	181764058	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr1:181764058C>T	ENST00000526775.1	+	44	6065	c.5900C>T	c.(5899-5901)tCa>tTa	p.S1967L	CACNA1E_ENST00000357570.5_Missense_Mutation_p.S1980L|CACNA1E_ENST00000367573.2_Missense_Mutation_p.S2029L|CACNA1E_ENST00000367570.1_Missense_Mutation_p.S1986L|CACNA1E_ENST00000367567.4_Missense_Mutation_p.S1593L|CACNA1E_ENST00000360108.3_Missense_Mutation_p.S2010L|CACNA1E_ENST00000358338.5_Missense_Mutation_p.S1918L	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2029					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						GATAAGCGTTCAAATTCCTCG	0.502000													10	68					0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119952986	119952986	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr4:119952986T>A	ENST00000307142.4	+	4	3252	c.3056T>A	c.(3055-3057)gTg>gAg	p.V1019E	SYNPO2_ENST00000434046.2_Missense_Mutation_p.V1019E|SYNPO2_ENST00000429713.2_Missense_Mutation_p.V1019E|SYNPO2_ENST00000448416.2_Intron	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	1019						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CCTACGAATGTGCAGGCTTCG	0.577000													25	86					0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54299229	54299229	+	Silent	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr19:54299229C>A	ENST00000324134.6	-	9	3150	c.2982G>T	c.(2980-2982)ctG>ctT	p.L994L	NLRP12_ENST00000345770.5_Intron|NLRP12_ENST00000351894.4_Silent_p.L882L|NLRP12_ENST00000535162.1_Intron|NLRP12_ENST00000354278.3_Intron|NLRP12_ENST00000391772.1_Intron|NLRP12_ENST00000391773.1_Silent_p.L995L|NLRP12_ENST00000391775.3_Silent_p.L937L	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	994					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GGTTGATCCCCAGGGTGAAGT	0.542000													9	42					0.000442599	0.000484068	1	1	0
PEG3	5178	broad.mit.edu	37	19	57334979	57334979	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr19:57334979G>C	ENST00000326441.9	-	5	826	c.463C>G	c.(463-465)Cac>Gac	p.H155D	ZIM2_ENST00000593711.1_Missense_Mutation_p.H29D|ZIM2_ENST00000599935.1_Missense_Mutation_p.H29D|ZIM2_ENST00000221722.5_Missense_Mutation_p.H29D|ZIM2_ENST00000593931.1_Missense_Mutation_p.H29D|ZIM2_ENST00000601070.1_Missense_Mutation_p.H29D|PEG3_ENST00000593695.1_Missense_Mutation_p.H29D|PEG3_ENST00000598410.1_Missense_Mutation_p.H29D|PEG3_ENST00000423103.2_Missense_Mutation_p.H155D|ZIM2_ENST00000391708.3_Missense_Mutation_p.H29D	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	155					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.H155Y(2)|p.H29Y(1)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TGGACTGAGTGAGGTGGTGAG	0.567000													7	69					0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27169605	27169605	+	Silent	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr9:27169605C>A	ENST00000380036.4	+	4	1048	c.606C>A	c.(604-606)gcC>gcA	p.A202A	TEK_ENST00000406359.4_Silent_p.A202A|TEK_ENST00000519097.1_Silent_p.A98A	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	202					angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		TCACCTCGGCCTTCACCAGGC	0.473000													46	68					5.78141e-17	9.23505e-17	1	1	0
HDAC9	9734	broad.mit.edu	37	7	18624908	18624908	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr7:18624908T>A	ENST00000406451.3	+	3	177	c.27T>A	c.(25-27)gaT>gaA	p.D9E	HDAC9_ENST00000406072.1_Missense_Mutation_p.D37E|HDAC9_ENST00000524023.1_De_novo_Start_InFrame|HDAC9_ENST00000456174.2_De_novo_Start_InFrame|HDAC9_ENST00000401921.1_Missense_Mutation_p.D9E|HDAC9_ENST00000476135.1_3'UTR|HDAC9_ENST00000417496.2_Missense_Mutation_p.D51E|HDAC9_ENST00000428307.2_Missense_Mutation_p.D9E|HDAC9_ENST00000432645.2_Missense_Mutation_p.D9E|HDAC9_ENST00000441542.2_Missense_Mutation_p.D9E|HDAC9_ENST00000405010.3_Missense_Mutation_p.D9E	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	9					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CTTTAGTGGATGTGAAGTCAG	0.458000													67	145					0	0	1	0	0
TRIP13	9319	broad.mit.edu	37	5	896837	896837	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr5:896837G>A	ENST00000166345.3	+	3	672	c.316G>A	c.(316-318)Ggc>Agc	p.G106S		NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	106					double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter		ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			GAATGAAGATGGCCCCAGCAG	0.463000													37	48					0	0	1	0	0
USP20	10868	broad.mit.edu	37	9	132632799	132632799	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr9:132632799G>T	ENST00000315480.4	+	15	1791	c.1633G>T	c.(1633-1635)Gcc>Tcc	p.A545S	USP20_ENST00000358355.1_Missense_Mutation_p.A545S|USP20_ENST00000372429.3_Missense_Mutation_p.A545S			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	545					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				CTGCCTTGCTGCCTTCTTTGC	0.617000													39	45					2.54651e-27	4.58674e-27	1	1	0
CDH12	1010	broad.mit.edu	37	5	21802410	21802410	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr5:21802410G>T	ENST00000382254.1	-	10	2208	c.1122C>A	c.(1120-1122)agC>agA	p.S374R	CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Missense_Mutation_p.S334R|CDH12_ENST00000504376.2_Missense_Mutation_p.S374R	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	374	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						CGTCCAGCACGCTGATCTTCA	0.532000										HNSCC(59;0.17)			40	48					2.59497e-14	3.95766e-14	1	1	0
MYBL2	4605	broad.mit.edu	37	20	42328565	42328565	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr20:42328565G>C	ENST00000217026.4	+	7	959	c.832G>C	c.(832-834)Gac>Cac	p.D278H	MYBL2_ENST00000396863.4_Missense_Mutation_p.D254H	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	278						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GAAGCGTGAGGACCAGGAAGG	0.587000													18	61					0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120466386	120466386	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr1:120466386C>A	ENST00000256646.2	-	26	4952	c.4733G>T	c.(4732-4734)cGc>cTc	p.R1578L	NOTCH2_ENST00000493703.1_5'UTR	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1578	Negative regulatory region (NRR).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCGCTTAATGCGCAGGTTGGT	0.542000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				17	46					1.5739e-10	2.1517e-10	1	1	0
KCNJ3	3760	broad.mit.edu	37	2	155555495	155555495	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr2:155555495G>T	ENST00000295101.2	+	1	685	c.208G>T	c.(208-210)Gac>Tac	p.D70Y	KCNJ3_ENST00000544049.1_Missense_Mutation_p.D70Y	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	70					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	p.D70Y(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	CTACCTCTCGGACCTCTTCAC	0.592000													20	68					1.01871e-10	1.40536e-10	1	1	0
LIG1	3978	broad.mit.edu	37	19	48620984	48620984	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr19:48620984G>A	ENST00000263274.7	-	26	2913	c.2494C>T	c.(2494-2496)Ccc>Tcc	p.P832S	LIG1_ENST00000536218.1_Missense_Mutation_p.P764S|LIG1_ENST00000427526.2_Missense_Mutation_p.P801S	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	832					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	CAGTGGTCGGGAATCACAGCG	0.637000								Nucleotide excision repair (NER)					6	12					0	0	1	0	0
LCE1D	353134	broad.mit.edu	37	1	152770563	152770563	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr1:152770563G>T	ENST00000326233.6	+	2	336	c.293G>T	c.(292-294)gGc>gTc	p.G98V		NM_178352.2	NP_848129.1	Q5T752	LCE1D_HUMAN	late cornified envelope 1D	98	Cys-rich.				cellular response to calcium ion|keratinization	cornified envelope|perinuclear region of cytoplasm				large_intestine(1)	1	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCTCGGGGGGCTCCAGCTGC	0.652000													13	61					3.32936e-07	4.12433e-07	1	1	0
CCDC88C	440193	broad.mit.edu	37	14	91770194	91770194	+	Silent	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr14:91770194C>A	ENST00000389857.6	-	20	3572	c.3486G>T	c.(3484-3486)gcG>gcT	p.A1162A		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1162					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CCTCGTAGGCCGCTGTAAGTT	0.657000													6	49					5.9392e-07	7.34235e-07	1	1	0
HSH2D	84941	broad.mit.edu	37	19	16268598	16268598	+	Missense_Mutation	SNP	A	A	G			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr19:16268598A>G	ENST00000253680.6	+	9	1583	c.1052A>G	c.(1051-1053)tAc>tGc	p.Y351C	HSH2D_ENST00000397372.4_Missense_Mutation_p.Y261C|HSH2D_ENST00000588246.1_3'UTR|HSH2D_ENST00000593154.2_3'UTR			Q96JZ2	HSH2D_HUMAN	hematopoietic SH2 domain containing	351						cytoplasm|nucleus				central_nervous_system(1)|kidney(1)|large_intestine(2)	4						GCCCCTGGGTACTGCTAGAGA	0.612000													11	7					0	0	1	0	0
EPHA4	2043	broad.mit.edu	37	2	222322690	222322690	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr2:222322690C>A	ENST00000281821.2	-	6	1380	c.1339G>T	c.(1339-1341)Gtc>Ttc	p.V447F	EPHA4_ENST00000409854.1_Missense_Mutation_p.V447F|EPHA4_ENST00000392071.4_Missense_Mutation_p.V396F|EPHA4_ENST00000409938.1_Missense_Mutation_p.V447F	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	447	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TTAGCCTGGACCAAAGCAATG	0.388000													18	86					2.4624e-09	3.22824e-09	1	1	0
RTTN	25914	broad.mit.edu	37	18	67672461	67672461	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr18:67672461C>A	ENST00000255674.6	-	48	6854	c.6568G>T	c.(6568-6570)Gat>Tat	p.D2190Y	RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	2190							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				TATGCTTCATCCACTCTTCTT	0.328000													6	23					3.59834e-05	4.02987e-05	1	1	0
PCDHGA1	56114	broad.mit.edu	37	5	140711007	140711007	+	Silent	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr5:140711007C>A	ENST00000517417.1	+	1	756	c.756C>A	c.(754-756)ccC>ccA	p.P252P	PCDHGA1_ENST00000378105.3_Silent_p.P252P	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAAATGTCCCCGAAAACGTGC	0.488000													18	61					1.56452e-12	2.25574e-12	1	1	0
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584					carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318000													4	69					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91625044	91625044	+	Missense_Mutation	SNP	A	A	G			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr7:91625044A>G	ENST00000359028.2	+	8	1121	c.896A>G	c.(895-897)tAt>tGt	p.Y299C	AKAP9_ENST00000394564.1_Missense_Mutation_p.Y287C|AKAP9_ENST00000356239.3_Missense_Mutation_p.Y287C|AKAP9_ENST00000358100.2_Missense_Mutation_p.Y299C			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	299					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTAGAAGATTATCAGAAAAAG	0.348000			T	BRAF	papillary thyroid								11	33					0	0	1	0	0
GDF2	2658	broad.mit.edu	37	10	48413582	48413582	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr10:48413582C>G	ENST00000249598.1	-	2	1445	c.1286G>C	c.(1285-1287)aGg>aCg	p.R429T		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	429					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						CAGATACTACCTGCACCCACA	0.592000													4	20					0	0	1	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576853	158576853	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr1:158576853G>A	ENST00000361284.1	+	1	625	c.625G>A	c.(625-627)Gtc>Atc	p.V209I		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					GGTCCTCTTGGTCTCCTTCTT	0.527000													19	172					0	0	1	0	0
SOX8	30812	broad.mit.edu	37	16	1034721	1034721	+	Missense_Mutation	SNP	A	A	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr16:1034721A>T	ENST00000293894.3	+	3	791	c.676A>T	c.(676-678)Acc>Tcc	p.T226S		NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	226					adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus				central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				CGGGCCGCCCACCCCGCCCAC	0.731000													3	10					0	0	1	0	0
HOXD4	3233	broad.mit.edu	37	2	177017353	177017353	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr2:177017353G>C	ENST00000306324.3	+	2	863	c.451G>C	c.(451-453)Ggt>Cgt	p.G151R	HOXD3_ENST00000468418.3_Intron	NM_014621.2	NP_055436.2	P09016	HXD4_HUMAN	homeobox D4	151						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		CAACTACACCGGTGGGGAACC	0.592000													11	58					0	0	1	0	0
TMEM200A	114801	broad.mit.edu	37	6	130761975	130761975	+	Silent	SNP	C	C	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr6:130761975C>T	ENST00000392429.1	+	2	2786	c.408C>T	c.(406-408)ggC>ggT	p.G136G	TMEM200A_ENST00000296978.3_Silent_p.G136G|TMEM200A_ENST00000545622.1_Silent_p.G136G	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	136						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		TGGGGATTGGCATTTTCATTT	0.418000													11	70					0	0	1	0	0
TMOD2	29767	broad.mit.edu	37	15	52098712	52098712	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr15:52098712G>T	ENST00000249700.4	+	9	1236	c.1015G>T	c.(1015-1017)Gac>Tac	p.D339Y	TMOD2_ENST00000435126.2_Missense_Mutation_p.D303Y|TMOD2_ENST00000539962.2_Missense_Mutation_p.D295Y	NM_001142885.1|NM_014548.3	NP_001136357.1|NP_055363.1	Q9NZR1	TMOD2_HUMAN	tropomodulin 2 (neuronal)	339					nervous system development	cytoplasm|cytoskeleton	actin binding|tropomyosin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16				all cancers(107;0.00435)		AAAGAATAATGACCTGGGTAA	0.453000													11	78					3.07112e-06	3.68413e-06	1	1	0
FUBP1	8880	broad.mit.edu	37	1	78433873	78433873	+	Missense_Mutation	SNP	T	T	C			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr1:78433873T>C	ENST00000370767.1	-	3	313	c.226A>G	c.(226-228)Aag>Gag	p.K76E	FUBP1_ENST00000370768.2_Missense_Mutation_p.K76E|FUBP1_ENST00000436586.2_Missense_Mutation_p.K97E			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	76					transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GCAACTTTCTTAGCATCTGGT	0.303000			"""F, N"""		oligodendroglioma								11	26					0	0	1	0	0
TSGA10	80705	broad.mit.edu	37	2	99725413	99725413	+	Silent	SNP	T	T	C			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr2:99725413T>C	ENST00000393483.3	-	7	937	c.93A>G	c.(91-93)agA>agG	p.R31R	TSGA10_ENST00000542655.1_Silent_p.R31R|TSGA10_ENST00000539964.1_Silent_p.R31R|TSGA10_ENST00000410001.1_Silent_p.R31R|TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000355053.4_Silent_p.R31R	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	31					spermatogenesis	cytoplasm|nuclear membrane				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						CTTCACGATCTCTTGTTGTTG	0.348000													14	38					0	0	1	0	0
PRSS12	8492	broad.mit.edu	37	4	119252906	119252906	+	Silent	SNP	G	G	T	rs12505679		TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr4:119252906G>T	ENST00000296498.3	-	4	1218	c.936C>A	c.(934-936)gcC>gcA	p.A312A		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	312	SRCR 2.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						CTTCTGCATCGGCATCATCCC	0.493000													31	67					8.58068e-18	1.39264e-17	1	1	0
TAL1	6886	broad.mit.edu	37	1	47685802	47685802	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr1:47685802C>T	ENST00000371883.3	-	4	1168	c.592G>A	c.(592-594)Gag>Aag	p.E198K	TAL1_ENST00000371884.2_Missense_Mutation_p.E196K|TAL1_ENST00000294339.3_Missense_Mutation_p.E196K|TAL1_ENST00000459729.1_5'UTR			P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	196					basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						CGCCATCGCTCCCGGCTGTTG	0.562000			T	"""TRD@, SIL"""	lymphoblastic leukemia/biphasic								6	42					0	0	1	0	0
TEX26	122046	broad.mit.edu	37	13	31513830	31513830	+	Splice_Site	SNP	G	G	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr13:31513830G>A	ENST00000380473.3	+	2	74		c.e2-1			NM_152325.1	NP_689538.1	Q8N6G2	CM026_HUMAN	testis expressed 26																		TGTACTTTTAGCAGATGACCC	0.348000													6	28					0	0	1	0	0
TRIM58	25893	broad.mit.edu	37	1	248039374	248039374	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr1:248039374G>T	ENST00000366481.3	+	6	1092	c.1044G>T	c.(1042-1044)tgG>tgT	p.W348C	OR2W3_ENST00000537741.1_Intron	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	348	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGCATTACTGGGAGGTTCTGG	0.552000													12	94					9.31168e-06	1.07866e-05	1	1	0
MACF1	23499	broad.mit.edu	37	1	39851595	39851595	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr1:39851595C>T	ENST00000564288.1	+	57	15115	c.14338C>T	c.(14338-14340)Ctt>Ttt	p.L4780F	MACF1_ENST00000545844.1_Missense_Mutation_p.L2718F|MACF1_ENST00000317713.7_Missense_Mutation_p.L2718F|MACF1_ENST00000361689.2_Missense_Mutation_p.L2718F|MACF1_ENST00000289893.4_Missense_Mutation_p.L3220F|MACF1_ENST00000539005.1_Missense_Mutation_p.L2697F|MACF1_ENST00000567887.1_Missense_Mutation_p.L4817F|MACF1_ENST00000372915.3_Missense_Mutation_p.L4785F			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4785					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TTTAGAAGACCTTGCAGGTAA	0.473000													25	43					0	0	1	0	0
S100A12	6283	broad.mit.edu	37	1	153346375	153346375	+	Silent	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr1:153346375G>T	ENST00000368737.3	-	3	324	c.207C>A	c.(205-207)gtC>gtA	p.V69V		NM_005621.1	NP_005612.1	P80511	S10AC_HUMAN	S100 calcium binding protein A12	69	EF-hand 2.				defense response to bacterium|defense response to fungus|inflammatory response|innate immune response|killing of cells of other organism|positive regulation of I-kappaB kinase/NF-kappaB cascade|xenobiotic metabolic process	cytosol|extracellular region|insoluble fraction|nucleus	calcium ion binding|RAGE receptor binding|zinc ion binding			endometrium(1)|kidney(1)|skin(2)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)		Amlexanox(DB01025)	CTTGAAAGTCGACCTGTTCAT	0.433000													22	101					1.96292e-10	2.66553e-10	1	1	0
NDUFA12	55967	broad.mit.edu	37	12	95397414	95397414	+	Missense_Mutation	SNP	T	T	G			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr12:95397414T>G	ENST00000327772.2	-	1	132	c.43A>C	c.(43-45)Acc>Ccc	p.T15P	NDUFA12_ENST00000547157.1_Missense_Mutation_p.T15P|NDUFA12_ENST00000547986.1_Missense_Mutation_p.T15P	NM_018838.4	NP_061326.1	Q9UI09	NDUAC_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12	15					respiratory electron transport chain|respiratory gaseous exchange|response to oxidative stress|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity			endometrium(1)|large_intestine(2)|lung(3)	6					NADH(DB00157)	CCGTGGCCGGTGATCTGCTGC	0.627000													36	86					0	0	1	0	0
GALNT13	114805	broad.mit.edu	37	2	155115579	155115579	+	Silent	SNP	C	C	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr2:155115579C>T	ENST00000392825.3	+	8	1470	c.903C>T	c.(901-903)taC>taT	p.Y301Y	GALNT13_ENST00000409237.1_Silent_p.Y301Y|GALNT13_ENST00000487047.1_3'UTR	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	301	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						ACAGAAACTACTTTGAAGAGA	0.333000													23	72					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39026032	39026032	+	Splice_Site	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr19:39026032G>T	ENST00000355481.4	+	80	11632	c.11501_splice	c.e80+1	p.S3834_splice	RYR1_ENST00000360985.3_Splice_Site_p.S3839_splice|RYR1_ENST00000359596.3_Splice_Site_p.S3839_splice	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3839					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CAAACATGCAGGTAGGTTCGA	0.507000													28	52					2.24059e-21	3.799e-21	1	1	0
MAG	4099	broad.mit.edu	37	19	35791296	35791296	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr19:35791296T>A	ENST00000361922.4	+	6	1109	c.959T>A	c.(958-960)cTc>cAc	p.L320H	MAG_ENST00000392213.3_Missense_Mutation_p.L320H|MAG_ENST00000537831.2_Missense_Mutation_p.L295H	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	myelin associated glycoprotein	320	Ig-like C2-type 2.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			ACCGTGGGGCTCAGTGTCATG	0.652000													14	65					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183710441	183710441	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr4:183710441C>T	ENST00000511685.1	+	25	5623	c.5500C>T	c.(5500-5502)Cga>Tga	p.R1834*	TENM3_ENST00000406950.2_Nonsense_Mutation_p.R1834*					teneurin transmembrane protein 3																		CAGCATCCAGCGAGGCACCAC	0.507000													10	27					0	0	1	0	0
STAG3	10734	broad.mit.edu	37	7	99798418	99798418	+	Silent	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr7:99798418C>A	ENST00000426455.1	+	19	2294	c.1887C>A	c.(1885-1887)ctC>ctA	p.L629L	STAG3_ENST00000317296.5_Silent_p.L629L|GATS_ENST00000436886.2_3'UTR|STAG3_ENST00000440830.1_3'UTR|GATS_ENST00000543273.1_RNA|STAG3_ENST00000394018.2_Silent_p.L571L			Q9UJ98	STAG3_HUMAN	stromal antigen 3	629					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGCAGCAACTCCAGGAGGTGG	0.587000													25	40					1.66031e-10	2.25965e-10	1	1	0
CPAMD8	27151	broad.mit.edu	37	19	17108088	17108088	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr19:17108088C>G	ENST00000443236.1	-	11	1100	c.1069G>C	c.(1069-1071)Gag>Cag	p.E357Q	CPAMD8_ENST00000388925.4_Missense_Mutation_p.E310Q	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	310						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CGGAAGTGCTCAGGGACGTCC	0.637000													4	15					0	0	1	0	0
ZBTB18	10472	broad.mit.edu	37	1	244218390	244218390	+	Silent	SNP	G	G	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr1:244218390G>A	ENST00000358704.4	+	2	1463	c.1314G>A	c.(1312-1314)gaG>gaA	p.E438E		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1			zinc finger and BTB domain containing 18																		AGCGCCACGAGAGGACTCACT	0.632000													13	143					0	0	1	0	0
RTL1	388015	broad.mit.edu	37	14	101349287	101349287	+	Silent	SNP	G	G	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr14:101349287G>A	ENST00000534062.1	-	1	1897	c.1839C>T	c.(1837-1839)acC>acT	p.T613T		NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN	retrotransposon-like 1	613										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						CCCAAGGCGCGGTGGAGGGAC	0.557000													6	32					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216260141	216260141	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr1:216260141C>T	ENST00000366943.2	-	24	5293	c.4907G>A	c.(4906-4908)gGt>gAt	p.G1636D	RP11-22M7.2_ENST00000442606.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.G1636D|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1636	Laminin G-like 1.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AACAGTACTACCATTCAGGAT	0.428000										HNSCC(13;0.011)			4	55					0	0	1	0	0
SORCS1	114815	broad.mit.edu	37	10	108437123	108437123	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr10:108437123C>A	ENST00000263054.6	-	13	1787	c.1780G>T	c.(1780-1782)Ggt>Tgt	p.G594C	SORCS1_ENST00000344440.6_Missense_Mutation_p.G594C|SORCS1_ENST00000369698.1_Missense_Mutation_p.G129C	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	594						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		AGGACTCCACCTTGATCCAGG	0.468000													19	34					2.37509e-13	3.49922e-13	1	1	0
CEP192	55125	broad.mit.edu	37	18	13056398	13056398	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr18:13056398C>A	ENST00000506447.1	+	19	3889	c.3809C>A	c.(3808-3810)cCt>cAt	p.P1270H	CEP192_ENST00000430049.2_Missense_Mutation_p.P795H|CEP192_ENST00000325971.8_Missense_Mutation_p.P674H	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	865										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GGAACACTCCCTTCAACTGGA	0.567000													25	64					3.08376e-08	3.89157e-08	1	1	0
CD1A	909	broad.mit.edu	37	1	158224989	158224989	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr1:158224989C>G	ENST00000289429.5	+	2	707	c.174C>G	c.(172-174)gaC>gaG	p.D58E		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	58					antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	ATACCTGGGACAGCAATTCCA	0.488000													36	71					0	0	1	0	0
RHAG	6005	broad.mit.edu	37	6	49585802	49585802	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr6:49585802G>T	ENST00000371175.4	-	3	497	c.471C>A	c.(469-471)taC>taA	p.Y157*	RHAG_ENST00000229810.7_Nonsense_Mutation_p.Y157*	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	157					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					CACTAACCAGGTATTCATTGT	0.378000													12	32					5.50884e-06	6.4429e-06	1	1	0
GPR75-ASB3	100302652	broad.mit.edu	37	2	53992517	53992517	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr2:53992517C>A	ENST00000263634.3	-	2	327	c.193G>T	c.(193-195)Gca>Tca	p.A65S	GPR75-ASB3_ENST00000406687.1_Intron|GPR75-ASB3_ENST00000352846.3_Missense_Mutation_p.A103S|ASB3_ENST00000406625.2_Missense_Mutation_p.A100S|ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000482829.1_5'UTR|GPR75-ASB3_ENST00000394717.2_Intron	NM_016115.4	NP_057199.1	Q2TAI4	Q2TAI4_HUMAN		100					intracellular signal transduction												ACTTTACCTGCATTAATTAAC	0.343000													40	133					1.69901e-12	2.44384e-12	1	1	0
MYH6	4624	broad.mit.edu	37	14	23855660	23855660	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr14:23855660C>T	ENST00000405093.3	-	33	4893	c.4823G>A	c.(4822-4824)cGc>cAc	p.R1608H	MYH6_ENST00000356287.3_Missense_Mutation_p.R1608H	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1608					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GTTGCGGCTGCGTGTCTCTGC	0.617000													31	156					0	0	1	0	0
ALAS2	212	broad.mit.edu	37	X	55052281	55052281	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chrX:55052281G>C	ENST00000330807.5	-	2	290	c.153C>G	c.(151-153)atC>atG	p.I51M	ALAS2_ENST00000396198.3_Missense_Mutation_p.I75M|ALAS2_ENST00000335854.4_Missense_Mutation_p.I51M	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	51					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	CCTTAAGGTGGATTTGAGAAC	0.502000													21	23					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28441684	28441684	+	Silent	SNP	G	G	A	rs2428639		TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr15:28441684G>A	ENST00000261609.7	-	51	8151	c.8043C>T	c.(8041-8043)gtC>gtT	p.V2681V		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	2681					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GGGGAAAGTCGACAATGATAT	0.423000													5	99					0	0	1	0	0
MEX3B	84206	broad.mit.edu	37	15	82337975	82337975	+	Silent	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr15:82337975C>A	ENST00000558133.1	-	1	485	c.72G>T	c.(70-72)ggG>ggT	p.G24G	MEX3B_ENST00000329713.4_Silent_p.G24G			Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	24					protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						GGGTCTCTCCCCCTccgctgc	0.736000													4	9					0.00909568	0.00942163	1	1	0
GPER1	2852	broad.mit.edu	37	7	1132176	1132176	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr7:1132176G>T	ENST00000397092.1	+	3	1696	c.812G>T	c.(811-813)tGc>tTc	p.C271F	C7orf50_ENST00000357429.6_Intron|GPER_ENST00000397088.3_Missense_Mutation_p.C271F|GPER_ENST00000297469.3_Missense_Mutation_p.C271F|GPER_ENST00000401670.1_Missense_Mutation_p.C271F|C7orf50_ENST00000397100.2_Intron|C7orf50_ENST00000488073.1_Intron|C7orf50_ENST00000397098.3_Intron	NM_001039966.1	NP_001035055.1	Q99527	GPER_HUMAN		271						endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	13		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16)		TTCTTCGTCTGCTGGCTGCCG	0.701000													31	80					1.39806e-14	2.15386e-14	1	1	0
PSMA1	5682	broad.mit.edu	37	11	14535935	14535935	+	Splice_Site	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr11:14535935C>A	ENST00000555531.1	-	5	401		c.e5+1		PSMA1_ENST00000396393.1_Intron|PSMA1_ENST00000419365.2_Splice_Site|PSMA1_ENST00000396394.2_Intron|PSMA1_ENST00000530457.1_Intron|PSMA1_ENST00000418988.2_Intron			P25786	PSA1_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 1						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|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex	protein binding|RNA binding|threonine-type endopeptidase activity			large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						TAAATGCTAACATAAAAAGGA	0.318000													6	20					2.0095e-06	2.42981e-06	1	1	0
LINC00336	401253	broad.mit.edu	37	6	33560967	33560967	+	RNA	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr6:33560967C>A	ENST00000477984.1	-	0	148					NR_027908.1																						CGAGGTCACGCGTGGGCGCCT	0.692000													4	6					0.00909568	0.00942163	1	1	0
RIMS2	9699	broad.mit.edu	37	8	104948864	104948864	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr8:104948864C>G	ENST00000507740.1	+	10	2073	c.1837C>G	c.(1837-1839)Cga>Gga	p.R613G	RIMS2_ENST00000262231.10_Missense_Mutation_p.R660G|RIMS2_ENST00000406091.3_Missense_Mutation_p.R821G|RIMS2_ENST00000436393.2_Missense_Mutation_p.R599G	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	883					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TCCAGTCCACCGAAGAGAATT	0.388000										HNSCC(12;0.0054)			24	145					0	0	1	0	0
KIF13A	63971	broad.mit.edu	37	6	17794831	17794831	+	Missense_Mutation	SNP	T	T	C			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr6:17794831T>C	ENST00000378814.5	-	24	3046	c.3047A>G	c.(3046-3048)aAc>aGc	p.N1016S	KIF13A_ENST00000378843.2_Missense_Mutation_p.N1016S|KIF13A_ENST00000378816.5_Missense_Mutation_p.N1016S|KIF13A_ENST00000259711.6_Missense_Mutation_p.N1016S|KIF13A_ENST00000378826.2_Missense_Mutation_p.N1016S	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1016					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GCCTCCTGTGTTGACATCTTT	0.378000													10	35					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38647352	38647352	+	RNA	SNP	G	G	C			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr10:38647352G>C	ENST00000494540.1	+	0	223					NR_003086.1																						TGCTCTGCTGGCCTCTCACCC	0.552000													9	32					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129569276	129569276	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr12:129569276G>T	ENST00000389441.4	-	1	1269	c.29C>A	c.(28-30)cCt>cAt	p.P10H	TMEM132D_ENST00000422113.2_Intron			Q14C87	T132D_HUMAN	transmembrane protein 132D	0						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GAAAAGGGGAGGGAAAGGTGA	0.527000													12	19					6.40141e-05	7.12964e-05	1	1	0
TNFRSF11B	4982	broad.mit.edu	37	8	119938900	119938900	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr8:119938900G>T	ENST00000297350.4	-	4	1028	c.650C>A	c.(649-651)cCt>cAt	p.P217H		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	217	Death 1.				apoptosis|skeletal system development		cytokine activity|receptor activity			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			AAGCCAGTTAGGCGTAAACTT	0.428000													39	42					5.43694e-19	8.99243e-19	1	1	0
SMC2	10592	broad.mit.edu	37	9	106889692	106889692	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr9:106889692G>T	ENST00000286398.7	+	20	3009	c.2721G>T	c.(2719-2721)caG>caT	p.Q907H	SMC2_ENST00000374793.3_Missense_Mutation_p.Q907H|SMC2_ENST00000303219.8_Missense_Mutation_p.Q907H|SMC2_ENST00000374787.3_Missense_Mutation_p.Q907H	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	907					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						ATGATTCTCAGCTTAAAATTA	0.378000													68	33					3.8128e-34	7.0993e-34	1	1	0
KIF2B	84643	broad.mit.edu	37	17	51900544	51900544	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr17:51900544C>A	ENST00000268919.4	+	1	306	c.150C>A	c.(148-150)aaC>aaA	p.N50K		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	50					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CGGAGATCAACAGAGAAAACT	0.522000													43	113					1.96642e-18	3.22599e-18	1	1	0
LMO7	4008	broad.mit.edu	37	13	76423332	76423332	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr13:76423332G>T	ENST00000357063.3	+	28	5684	c.4424G>T	c.(4423-4425)aGg>aTg	p.R1475M	LMO7_ENST00000377534.3_Missense_Mutation_p.R1475M|LMO7_ENST00000341547.4_Missense_Mutation_p.R1141M|LMO7_ENST00000465261.2_Missense_Mutation_p.R1190M|LMO7_ENST00000526202.1_Missense_Mutation_p.R1067M|LMO7_ENST00000321797.8_Missense_Mutation_p.R1190M			Q8WWI1	LMO7_HUMAN	LIM domain 7	1475						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		CAGGAAATGAGGAAGAGAACA	0.483000													12	57					2.80697e-09	3.65629e-09	1	1	0
GAB4	128954	broad.mit.edu	37	22	17443701	17443701	+	Silent	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr22:17443701G>T	ENST00000400588.1	-	10	1754	c.1647C>A	c.(1645-1647)acC>acA	p.T549T		NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	549										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GCAGGGCCTGGGTCTTCTCCA	0.602000													10	24					0.00621372	0.00652548	1	1	0
PZP	5858	broad.mit.edu	37	12	9333618	9333618	+	Silent	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr12:9333618C>A	ENST00000261336.2	-	15	1828	c.1800G>T	c.(1798-1800)gtG>gtT	p.V600V	PZP_ENST00000381997.2_Silent_p.V469V	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TCATGAGCAGCACACTTTGGT	0.592000													13	39					9.31168e-06	1.07866e-05	1	1	0
DPY19L2	283417	broad.mit.edu	37	12	63954444	63954444	+	Splice_Site	SNP	T	T	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr12:63954444T>A	ENST00000324472.4	-	22	2310		c.e22-2		DPY19L2_ENST00000413230.2_Splice_Site	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)						multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		CAACCAGGCCTGAAAAAAGAC	0.398000													7	35					0	0	1	0	0
MESDC1	59274	broad.mit.edu	37	15	81295609	81295609	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr15:81295609G>T	ENST00000267984.2	+	1	2315	c.997G>T	c.(997-999)Gtg>Ttg	p.V333L		NM_022566.2	NP_072088.1	Q9H1K6	MESD1_HUMAN	mesoderm development candidate 1	333										endometrium(1)|lung(2)	3						GGCCTGCGCCGTGTCTGAAGG	0.612000													5	12					0.0215528	0.0222114	1	1	0
MYEF2	50804	broad.mit.edu	37	15	48450410	48450410	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr15:48450410C>A	ENST00000324324.7	-	8	1162	c.883G>T	c.(883-885)Ggg>Tgg	p.G295W	MYEF2_ENST00000267836.6_Missense_Mutation_p.G295W|MYEF2_ENST00000557868.1_5'UTR	NM_016132.3	NP_057216.2	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	295	RRM 2.				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		AAAAACTGCCCATTGAACATA	0.333000													13	34					1.05317e-09	1.3958e-09	1	1	0
COL28A1	340267	broad.mit.edu	37	7	7413110	7413110	+	Silent	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr7:7413110C>A	ENST00000399429.3	-	32	2567	c.2427G>T	c.(2425-2427)gtG>gtT	p.V809V		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	809	VWFA 2.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TCTCTGGCCCCACGCTTTCTG	0.458000													22	82					6.44725e-10	8.65815e-10	1	1	0
DSP	1832	broad.mit.edu	37	6	7576572	7576572	+	Silent	SNP	T	T	C			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr6:7576572T>C	ENST00000379802.3	+	19	3017	c.2676T>C	c.(2674-2676)cgT>cgC	p.R892R	DSP_ENST00000418664.2_Silent_p.R892R	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	892	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)		GGAATTATCGTGATAACTATC	0.388000													17	90					0	0	1	0	0
DVL1	1855	broad.mit.edu	37	1	1273928	1273928	+	Missense_Mutation	SNP	T	T	C			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr1:1273928T>C	ENST00000378888.5	-	12	1597	c.1313A>G	c.(1312-1314)aAg>aGg	p.K438R	DVL1_ENST00000378891.5_Missense_Mutation_p.K413R			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	438	DEP.				canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GATGGTGATCTTGAGCCACAT	0.672000													19	47					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133984060	133984060	+	Silent	SNP	G	G	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr8:133984060G>A	ENST00000220616.4	+	33	6037	c.5997G>A	c.(5995-5997)cgG>cgA	p.R1999R	TG_ENST00000519543.1_Silent_p.R153R|TG_ENST00000542445.1_Silent_p.R369R|TG_ENST00000377869.1_Silent_p.R1942R	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1999			R -> W (in dbSNP:rs2076740).		hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GTGAACGACGGTGCGATGCGG	0.498000													38	39					0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75950036	75950036	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr5:75950036G>A	ENST00000274364.6	+	19	2487	c.2190G>A	c.(2188-2190)tgG>tgA	p.W730*	IQGAP2_ENST00000379730.3_Nonsense_Mutation_p.W232*|IQGAP2_ENST00000396234.3_Nonsense_Mutation_p.W226*|IQGAP2_ENST00000502745.1_Nonsense_Mutation_p.W226*	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	730	IQ 2.				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TTCAGTCCTGGTTCCGAATGG	0.343000													9	38					0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70847628	70847628	+	Nonsense_Mutation	SNP	A	A	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr6:70847628A>T	ENST00000322773.4	+	19	1537	c.1435A>T	c.(1435-1437)Aaa>Taa	p.K479*	COL19A1_ENST00000393344.1_Nonsense_Mutation_p.K101*	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	479	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TAAAGGACAAAAAGGAGAACC	0.418000													16	79					0	0	1	0	0
DNAJC5B	85479	broad.mit.edu	37	8	67012257	67012257	+	Silent	SNP	A	A	G			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr8:67012257A>G	ENST00000276570.5	+	6	878	c.591A>G	c.(589-591)acA>acG	p.T197T	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta	197					protein folding	membrane	heat shock protein binding|unfolded protein binding			endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			GTTATTGCACAGACTCTTGAT	0.443000													20	28					0	0	1	0	0
MTTP	4547	broad.mit.edu	37	4	100540220	100540220	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr4:100540220G>T	ENST00000457717.1	+	17	2563	c.2307G>T	c.(2305-2307)ttG>ttT	p.L769F	MTTP_ENST00000511045.1_Missense_Mutation_p.L796F|RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000265517.5_Missense_Mutation_p.L769F	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	769					lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	AGTTTAGCTTGTGGTATCGTG	0.353000													29	125					2.61193e-14	3.96361e-14	1	1	0
LMTK2	22853	broad.mit.edu	37	7	97821707	97821707	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr7:97821707G>A	ENST00000297293.5	+	11	2223	c.1930G>A	c.(1930-1932)Gat>Aat	p.D644N		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	644					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CAAATCGGAAGATTTGCCCAG	0.433000													17	84					0	0	1	0	0
KSR1	8844	broad.mit.edu	37	17	25937217	25937217	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr17:25937217G>T	ENST00000398988.3	+	19	2450	c.2005G>T	c.(2005-2007)Gca>Tca	p.A669S	KSR1_ENST00000268763.6_Missense_Mutation_p.A669S|KSR1_ENST00000509603.2_Missense_Mutation_p.A784S|KSR1_ENST00000582410.1_Missense_Mutation_p.A20S|KSR1_ENST00000319524.6_Missense_Mutation_p.A806S	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	804	Protein kinase.				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		TGATGTCTATGCATTTGGGTG	0.592000											OREG0024262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	98					1.64293e-13	2.43234e-13	1	1	0
BSN	8927	broad.mit.edu	37	3	49689964	49689964	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr3:49689964C>G	ENST00000296452.4	+	5	3089	c.2975C>G	c.(2974-2976)tCg>tGg	p.S992W		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	992					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AGCTACACCTCGGGCACCTCT	0.637000													14	52					0	0	1	0	0
ASB11	140456	broad.mit.edu	37	X	15315770	15315770	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chrX:15315770C>A	ENST00000537676.1	-	3	304	c.232G>T	c.(232-234)Gtg>Ttg	p.V78L	ASB11_ENST00000380470.3_Intron|ASB11_ENST00000344384.4_Missense_Mutation_p.V78L|ASB11_ENST00000480796.1_Missense_Mutation_p.V99L			Q8WXH4	ASB11_HUMAN	ankyrin repeat and SOCS box containing 11	99					intracellular signal transduction					breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1)	16	Hepatocellular(33;0.183)					AGAGAAGACACCCGGTTAATT	0.488000													16	56					4.7546e-09	6.12748e-09	1	1	0
TIAM1	7074	broad.mit.edu	37	21	32492963	32492963	+	Missense_Mutation	SNP	T	T	C			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr21:32492963T>C	ENST00000286827.3	-	29	4970	c.4499A>G	c.(4498-4500)aAg>aGg	p.K1500R	TIAM1_ENST00000541036.1_Missense_Mutation_p.K1440R	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1500					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GTCTGTCTCCTTGATGTCATC	0.572000													63	53					0	0	1	0	0
DLGAP1	9229	broad.mit.edu	37	18	3879834	3879834	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr18:3879834G>T	ENST00000315677.3	-	4	830	c.235C>A	c.(235-237)Caa>Aaa	p.Q79K	DLGAP1_ENST00000515196.2_Missense_Mutation_p.Q79K|DLGAP1_ENST00000581527.1_Missense_Mutation_p.Q79K|DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000584874.1_Missense_Mutation_p.Q79K	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	79					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				TTCAGCTCTTGCTGCGAGGTG	0.672000													35	44					4.34311e-12	6.1595e-12	1	1	0
RYR3	6263	broad.mit.edu	37	15	34102754	34102754	+	Silent	SNP	C	C	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr15:34102754C>T	ENST00000389232.4	+	71	10171	c.10101C>T	c.(10099-10101)atC>atT	p.I3367I	RYR3_ENST00000415757.3_Silent_p.I3362I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3367					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCTCCCTCATCGTGGCTGCAC	0.502000													13	31					0	0	1	0	0
ACSBG1	23205	broad.mit.edu	37	15	78466004	78466004	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr15:78466004C>T	ENST00000258873.4	-	13	2225	c.2020G>A	c.(2020-2022)Gcc>Acc	p.A674T	ACSBG1_ENST00000541759.1_Missense_Mutation_p.A432T|ACSBG1_ENST00000560817.1_Missense_Mutation_p.A432T	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	674					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						TAGGGCCGGGCCGCCGCGTTC	0.567000													14	65					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37028950	37028950	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chrX:37028950C>A	ENST00000358047.3	+	1	2519	c.2467C>A	c.(2467-2469)Cat>Aat	p.H823N		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	823										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CGGAGCGTCCCATCTAAAAGA	0.537000													18	40					0.00074312	0.000801197	1	1	0
CNTN5	53942	broad.mit.edu	37	11	99944985	99944985	+	Silent	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr11:99944985C>A	ENST00000524871.1	+	13	1829	c.1539C>A	c.(1537-1539)atC>atA	p.I513I	CNTN5_ENST00000279463.3_Silent_p.I513I|CNTN5_ENST00000418526.2_Silent_p.I439I|CNTN5_ENST00000527185.1_Silent_p.I513I|CNTN5_ENST00000528682.1_Silent_p.I513I	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	513	Ig-like C2-type 5.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AACCAACCATCTCTTGGAAGA	0.368000													8	9					1.06961e-07	1.33044e-07	1	1	0
OR7G3	390883	broad.mit.edu	37	19	9236779	9236779	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr19:9236779G>T	ENST00000305444.2	-	1	847	c.848C>A	c.(847-849)cCc>cAc	p.P283H		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						GTTCAGCATGGGGGTGACCAC	0.468000													24	61					3.83957e-06	4.58783e-06	1	1	0
FCN1	2219	broad.mit.edu	37	9	137808267	137808267	+	Silent	SNP	G	G	T	rs138533119		TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr9:137808267G>T	ENST00000371806.3	-	2	235	c.144C>A	c.(142-144)acC>acA	p.T48T		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	48					opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		CTCGGAGAATGGTGAGCTTGT	0.662000													112	104					5.11506e-57	9.70263e-57	1	1	0
FSIP1	161835	broad.mit.edu	37	15	40005743	40005743	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr15:40005743G>T	ENST00000350221.3	-	10	1299	c.1090C>A	c.(1090-1092)Cca>Aca	p.P364T		NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	364										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		TTTTCTCCTGGAGTTACTTCC	0.383000													16	108					1.62849e-17	2.62897e-17	1	1	0
MAGI2	9863	broad.mit.edu	37	7	77885377	77885377	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr7:77885377C>T	ENST00000354212.4	-	10	2183	c.1930G>A	c.(1930-1932)Gac>Aac	p.D644N	MAGI2_ENST00000419488.1_Missense_Mutation_p.D644N|MAGI2_ENST00000535697.1_Missense_Mutation_p.D481N|MAGI2_ENST00000536571.1_Missense_Mutation_p.D476N|MAGI2_ENST00000522391.1_Missense_Mutation_p.D644N	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	644	PDZ 3.					cell junction|synapse|synaptosome	phosphatase binding	p.D644N(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				ACAATGAGGTCGCCTTCACAC	0.488000													5	32					0	0	1	0	0
KCNK1	3775	broad.mit.edu	37	1	233802555	233802555	+	Silent	SNP	C	C	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr1:233802555C>T	ENST00000366621.3	+	2	738	c.570C>T	c.(568-570)gtC>gtT	p.V190V	KCNK1_ENST00000472190.1_3'UTR|KCNK1_ENST00000366620.1_Silent_p.V74V	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	190						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	TTGGGTTTGTCACTGTGTCCT	0.552000													8	84					0	0	1	0	0
PDE3B	5140	broad.mit.edu	37	11	14666479	14666479	+	Silent	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr11:14666479G>T	ENST00000282096.4	+	1	1211	c.858G>T	c.(856-858)gtG>gtT	p.V286V	PDE3B_ENST00000455098.2_Silent_p.V286V|PDE3B_ENST00000534317.1_3'UTR	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	286					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AAGAAAAAGTGCCTGTGATCC	0.572000													23	115					3.28513e-13	4.80499e-13	1	1	0
RSPRY1	89970	broad.mit.edu	37	16	57261318	57261318	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr16:57261318G>A	ENST00000537866.1	+	11	2099	c.1226G>A	c.(1225-1227)tGg>tAg	p.W409*	RSPRY1_ENST00000394420.4_Nonsense_Mutation_p.W409*|RSPRY1_ENST00000563073.1_3'UTR			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	409	B30.2/SPRY.					extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						CAGCTGATTTGGTACAATGCC	0.458000													16	38					0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	431143	431143	+	Missense_Mutation	SNP	A	A	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr3:431143A>T	ENST00000256509.2	+	20	3098	c.2456A>T	c.(2455-2457)tAt>tTt	p.Y819F	CHL1_ENST00000397491.2_Missense_Mutation_p.Y803F	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	803	Fibronectin type-III 3.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		GTGACTCTCTATTCTGGAGAA	0.438000													20	42					0	0	1	0	0
TAF1A	9015	broad.mit.edu	37	1	222742974	222742974	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr1:222742974C>G	ENST00000350027.4	-	7	925	c.772G>C	c.(772-774)Gag>Cag	p.E258Q	TAF1A_ENST00000352967.4_Missense_Mutation_p.E258Q|TAF1A_ENST00000543857.1_Missense_Mutation_p.E258Q|TAF1A_ENST00000391882.1_Missense_Mutation_p.E144Q|TAF1A_ENST00000465263.1_5'UTR|TAF1A_ENST00000366890.1_Missense_Mutation_p.E144Q	NM_001201536.1	NP_001188465.1	Q15573	TAF1A_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa	258					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	RNA polymerase I transcription factor complex	DNA binding			kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		GTGAGTACCTCTTGGGCTCCA	0.348000													9	86					0	0	1	0	0
ITGB1BP2	26548	broad.mit.edu	37	X	70521717	70521717	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chrX:70521717C>T	ENST00000373829.3	+	1	134	c.61C>T	c.(61-63)Cct>Tct	p.P21S	ITGB1BP2_ENST00000538820.1_5'UTR	NM_012278.1	NP_036410.1	Q9UKP3	ITBP2_HUMAN	integrin beta 1 binding protein (melusin) 2	21	CHORD 1.|Cys-rich.				muscle organ development|signal transduction		SH3 domain binding			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)	14	Renal(35;0.156)					TACCAACCTTCCTGGTGAGTA	0.512000													16	12					0	0	1	0	0
PHRF1	57661	broad.mit.edu	37	11	608234	608234	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr11:608234G>T	ENST00000264555.5	+	14	2906	c.2778G>T	c.(2776-2778)caG>caT	p.Q926H	PHRF1_ENST00000416188.2_Missense_Mutation_p.Q925H|PHRF1_ENST00000413872.2_Missense_Mutation_p.Q924H|PHRF1_ENST00000533464.1_Missense_Mutation_p.Q922H	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	926							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CAGAGAGCCAGGGCCTGGCTG	0.697000													8	19					0.000157383	0.000174328	1	1	0
PCDHGB3	56102	broad.mit.edu	37	5	140750090	140750090	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr5:140750090G>T	ENST00000576222.1	+	1	260	c.129G>T	c.(127-129)agG>agT	p.R43S	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTGGACAGGGGCTCGCTGG	0.552000													15	113					6.72482e-11	9.29833e-11	1	1	0
HIST1H2BC	8347	broad.mit.edu	37	6	26123854	26123854	+	Missense_Mutation	SNP	C	C	A	rs145816298		TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr6:26123854C>A	ENST00000314332.5	-	1	284	c.279G>T	c.(277-279)agG>agT	p.R93S	HIST1H2BC_ENST00000396984.1_Missense_Mutation_p.R93S			P62807	H2B1C_HUMAN	histone cluster 1, H2bc	93					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	16						TCTGGATCTCCCTGGAGGTGA	0.607000													29	130					1.2476e-16	1.97726e-16	1	1	0
VSTM1	284415	broad.mit.edu	37	19	54561818	54561818	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr19:54561818C>G	ENST00000338372.2	-	3	272	c.97G>C	c.(97-99)Gcc>Ccc	p.A33P	VSTM1_ENST00000366170.2_Intron|VSTM1_ENST00000425006.2_Missense_Mutation_p.A33P|VSTM1_ENST00000376626.1_Missense_Mutation_p.A33P	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	33	Ig-like V-type.					integral to membrane				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		CTGGGCCAGGCGTGGAGGGAG	0.512000													37	88					0	0	1	0	0
C9	735	broad.mit.edu	37	5	39288988	39288988	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr5:39288988C>A	ENST00000263408.4	-	10	1577	c.1482G>T	c.(1480-1482)ttG>ttT	p.L494F		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	494	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TGGCTCTTTCCAAGTTTTGTT	0.343000													30	66					2.61193e-14	3.96361e-14	1	1	0
FCRLA	84824	broad.mit.edu	37	1	161682007	161682007	+	Splice_Site	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr1:161682007G>T	ENST00000540926.1	+	5	1094	c.802_splice	c.e5+1	p.Q267_splice	FCRLA_ENST00000546024.1_Splice_Site_p.Q189_splice|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000540521.1_Splice_Site_p.Q144_splice|FCRLA_ENST00000349527.4_Intron|FCRLA_ENST00000367949.2_Intron|FCRLA_ENST00000367950.1_Intron|FCRLA_ENST00000367953.3_Splice_Site_p.Q267_splice|FCRLA_ENST00000367957.2_Splice_Site_p.Q138_splice|FCRLA_ENST00000367959.2_Splice_Site_p.Q284_splice|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000309691.6_Splice_Site_p.Q172_splice|FCRLA_ENST00000294796.4_Splice_Site_p.Q127_splice|FCRLA_ENST00000236938.6_Splice_Site_p.Q278_splice			Q7L513	FCRLA_HUMAN	Fc receptor-like A	261					cell differentiation	cytoplasm|extracellular region		p.Q284H(1)|p.Q261H(1)		breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			TCAGAGTGCAGGGTGAGTTCG	0.527000													19	104					2.4624e-09	3.22824e-09	1	1	0
MMRN1	22915	broad.mit.edu	37	4	90874479	90874479	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr4:90874479G>T	ENST00000394980.1	+	9	3916	c.3597G>T	c.(3595-3597)caG>caT	p.Q1199H	MMRN1_ENST00000508372.1_Missense_Mutation_p.Q941H|MMRN1_ENST00000264790.2_Missense_Mutation_p.Q1199H|MMRN1_ENST00000394981.1_Missense_Mutation_p.Q502H			Q13201	MMRN1_HUMAN	multimerin 1	1199	C1q.				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		ATTATGGGCAGGAAGTCTGGT	0.358000													24	63					1.64293e-13	2.43234e-13	1	1	0
TENM2	57451	broad.mit.edu	37	5	167379775	167379775	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr5:167379775G>T	ENST00000519204.1	+	3	650	c.532G>T	c.(532-534)Gtt>Ttt	p.V178F	TENM2_ENST00000520393.1_3'UTR|TENM2_ENST00000545108.1_Missense_Mutation_p.V299F|TENM2_ENST00000518659.1_Missense_Mutation_p.V299F|TENM2_ENST00000403607.2_Missense_Mutation_p.V132F|CTC-353G13.1_ENST00000523050.1_RNA|TENM2_ENST00000520394.1_Missense_Mutation_p.V108F					teneurin transmembrane protein 2																		ACCAGAGTCCGTTCAGCTTCA	0.612000													3	10					0.004672	0.00491491	1	1	0
GLG1	2734	broad.mit.edu	37	16	74499668	74499668	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr16:74499668C>A	ENST00000422840.2	-	19	2572	c.2573G>T	c.(2572-2574)cGc>cTc	p.R858L	GLG1_ENST00000205061.5_Missense_Mutation_p.R858L|GLG1_ENST00000447066.2_Missense_Mutation_p.R847L	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	858						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						TTGGTGGCAGCGGGTGCTTAG	0.448000													62	166					1.4709e-25	2.59545e-25	1	1	0
ASTN1	460	broad.mit.edu	37	1	176838098	176838098	+	Missense_Mutation	SNP	A	A	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr1:176838098A>T	ENST00000367654.2	-	22	3566	c.3553T>A	c.(3553-3555)Tac>Aac	p.Y1185N	ASTN1_ENST00000367657.3_Missense_Mutation_p.Y1177N|ASTN1_ENST00000424564.2_Missense_Mutation_p.Y1177N|ASTN1_ENST00000361833.2_Missense_Mutation_p.Y1177N			O14525	ASTN1_HUMAN	astrotactin 1	1185					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						AGGGTGTTGTAGGCGGTCTGC	0.478000													43	65					0	0	1	0	0
TMEM156	80008	broad.mit.edu	37	4	38995481	38995481	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr4:38995481C>A	ENST00000381938.3	-	3	603	c.496G>T	c.(496-498)Gga>Tga	p.G166*		NM_024943.1	NP_079219.1	Q8N614	TM156_HUMAN	transmembrane protein 156	166						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						GTTGATCTTCCAGTGTGGTTT	0.388000													39	116					8.16277e-20	1.36496e-19	1	1	0
ALAS2	212	broad.mit.edu	37	X	55052278	55052278	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chrX:55052278G>T	ENST00000330807.5	-	2	293	c.156C>A	c.(154-156)caC>caA	p.H52Q	ALAS2_ENST00000396198.3_Missense_Mutation_p.H76Q|ALAS2_ENST00000335854.4_Missense_Mutation_p.H52Q	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	52					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	TTGCCTTAAGGTGGATTTGAG	0.498000													20	22					1.00905e-13	1.50489e-13	1	1	0
PCDHGA2	56113	broad.mit.edu	37	5	140720281	140720281	+	Silent	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr5:140720281C>A	ENST00000394576.2	+	1	1743	c.1743C>A	c.(1741-1743)tcC>tcA	p.S581S	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCCCGCTCCGCAGAGCCCG	0.662000													63	149					2.22609e-26	3.96256e-26	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113585828	113585828	+	Missense_Mutation	SNP	A	A	G			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr8:113585828A>G	ENST00000297405.5	-	24	4188	c.3944T>C	c.(3943-3945)aTg>aCg	p.M1315T	CSMD3_ENST00000455883.2_Missense_Mutation_p.M1211T|CSMD3_ENST00000352409.3_Missense_Mutation_p.M1315T|CSMD3_ENST00000343508.3_Missense_Mutation_p.M1275T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1315	CUB 7.					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						CAGTCCGCGCATAGATGCACC	0.348000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			78	78					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48743246	48743246	+	Missense_Mutation	SNP	T	T	C			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr8:48743246T>C	ENST00000314191.2	-	62	8370	c.8314A>G	c.(8314-8316)Aga>Gga	p.R2772G	PRKDC_ENST00000338368.3_Missense_Mutation_p.R2772G|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2773	KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CGGTAGCTTCTGTACAGAACG	0.498000								Non-homologous end-joining					15	111					0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76877153	76877153	+	Missense_Mutation	SNP	T	T	C			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr11:76877153T>C	ENST00000409709.3	+	15	2014	c.1742T>C	c.(1741-1743)gTc>gCc	p.V581A	MYO7A_ENST00000409893.1_Missense_Mutation_p.V581A|MYO7A_ENST00000458637.2_Missense_Mutation_p.V581A|MYO7A_ENST00000409619.2_Missense_Mutation_p.V570A	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	581	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						ATCCAGCTGGTCCACTCCTCC	0.592000													5	28					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23906171	23906171	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr13:23906171C>G	ENST00000382298.3	-	10	12432	c.11844G>C	c.(11842-11844)caG>caC	p.Q3948H	SACS_ENST00000382292.3_Missense_Mutation_p.Q3948H|SACS_ENST00000402364.1_Missense_Mutation_p.Q3198H	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	3948					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CTAAGTAGCACTGGCTGAGAT	0.383000													41	90					0	0	1	0	0
SLC35F1	222553	broad.mit.edu	37	6	118635341	118635341	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr6:118635341C>T	ENST00000360388.4	+	8	1354	c.1153C>T	c.(1153-1155)Cag>Tag	p.Q385*		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	385					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		GACCACAGCTCAGGTGGAACC	0.602000													20	85					0	0	1	0	0
KIAA1598	57698	broad.mit.edu	37	10	118689426	118689426	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr10:118689426C>G	ENST00000355371.4	-	10	1443	c.946G>C	c.(946-948)Gat>Cat	p.D316H	KIAA1598_ENST00000497044.1_5'UTR|KIAA1598_ENST00000260777.10_Missense_Mutation_p.D316H|KIAA1598_ENST00000392903.2_Missense_Mutation_p.D316H|KIAA1598_ENST00000392901.4_Missense_Mutation_p.D256H	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598	316					axon guidance	axon				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		TCCTTTTTATCTTCCTCTAGA	0.338000													8	48					0	0	1	0	0
CENPE	1062	broad.mit.edu	37	4	104101486	104101486	+	Silent	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr4:104101486C>A	ENST00000265148.3	-	13	1313	c.1224G>T	c.(1222-1224)acG>acT	p.T408T	CENPE_ENST00000380026.3_Silent_p.T408T|CENPE_ENST00000509120.1_5'UTR	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	408					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CCTGTTGCAACGTGAGGGAAG	0.333000													21	99					8.24728e-16	1.29692e-15	1	1	0
SRP72	6731	broad.mit.edu	37	4	57344756	57344756	+	Splice_Site	SNP	A	A	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr4:57344756A>T	ENST00000342756.5	+	8	1488		c.e8-1		SRP72_ENST00000510663.1_Intron	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa						response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					TGTTGTTCACAGACCAACAGA	0.333000													22	68					0	0	1	0	0
KCNK2	3776	broad.mit.edu	37	1	215345380	215345380	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr1:215345380C>A	ENST00000444842.2	+	5	827	c.677C>A	c.(676-678)aCa>aAa	p.T226K	KCNK2_ENST00000391895.2_Missense_Mutation_p.T222K|KCNK2_ENST00000391894.2_Missense_Mutation_p.T211K	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	226							outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	ATCATCTCAACAATCATATTT	0.398000													20	94					1.87028e-06	2.27052e-06	1	1	0
CSMD1	64478	broad.mit.edu	37	8	3265596	3265596	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr8:3265596C>A	ENST00000520002.1	-	15	2454	c.1899G>T	c.(1897-1899)gaG>gaT	p.E633D	CSMD1_ENST00000539096.1_Missense_Mutation_p.E632D|CSMD1_ENST00000602557.1_Missense_Mutation_p.E633D|CSMD1_ENST00000542608.1_Missense_Mutation_p.E632D|CSMD1_ENST00000400186.3_Missense_Mutation_p.E633D|CSMD1_ENST00000537824.1_Missense_Mutation_p.E632D|CSMD1_ENST00000602723.1_Missense_Mutation_p.E633D			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	633	CUB 4.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CAAACTGAGGCTCAACATCAA	0.443000													6	27					2.0095e-06	2.42981e-06	1	1	0
SLCO6A1	133482	broad.mit.edu	37	5	101816130	101816130	+	Missense_Mutation	SNP	A	A	G			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr5:101816130A>G	ENST00000506729.1	-	2	538	c.367T>C	c.(367-369)Ttt>Ctt	p.F123L	SLCO6A1_ENST00000379807.3_Missense_Mutation_p.F123L|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.F123L|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.F123L|SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.F123L			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	123						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		ATAAGACCAAACACCACACCT	0.313000													15	64					0	0	1	0	0
POU6F2	11281	broad.mit.edu	37	7	39247170	39247170	+	Silent	SNP	A	A	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr7:39247170A>T	ENST00000518318.2	+	4	504	c.462A>T	c.(460-462)gcA>gcT	p.A154A	POU6F2_ENST00000403058.1_Silent_p.A154A|POU6F2_ENST00000559001.1_Silent_p.A146A|POU6F2_ENST00000517348.1_3'UTR			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	154					central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						GGCTGGTGGCAGCAGCTGCAG	0.542000													29	74					0	0	1	0	0
EXT2	2132	broad.mit.edu	37	11	44129683	44129683	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr11:44129683G>C	ENST00000395673.3	+	2	576	c.520G>C	c.(520-522)Gac>Cac	p.D174H	EXT2_ENST00000358681.4_Missense_Mutation_p.D141H|EXT2_ENST00000533608.1_Missense_Mutation_p.D141H|EXT2_ENST00000529186.1_3'UTR|EXT2_ENST00000343631.3_Missense_Mutation_p.D141H	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	141					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						CTCAGACAGTGACTACTACAC	0.488000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses				9	46					0	0	1	0	0
SLC39A6	25800	broad.mit.edu	37	18	33689687	33689687	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr18:33689687C>T	ENST00000269187.5	-	10	2350	c.2137G>A	c.(2137-2139)Gat>Aat	p.D713N	SLC39A6_ENST00000590986.1_Missense_Mutation_p.D713N	NM_012319.3	NP_036451.3	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	713						integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						TCACTAGCATCATTGTGCAGC	0.328000													252	126					0	0	1	0	0
DBX2	440097	broad.mit.edu	37	12	45410260	45410260	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr12:45410260G>T	ENST00000332700.6	-	4	1000	c.829C>A	c.(829-831)Cct>Act	p.P277T		NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	277						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		CATATTGAAGGACATGGAGAA	0.498000													22	96					4.35082e-09	5.64305e-09	1	1	0
USH2A	7399	broad.mit.edu	37	1	216251619	216251619	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr1:216251619T>A	ENST00000366943.2	-	27	5770	c.5384A>T	c.(5383-5385)tAt>tTt	p.Y1795F	USH2A_ENST00000307340.3_Missense_Mutation_p.Y1795F|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1795	Laminin G-like 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCCATTACAATAGGATAGCCC	0.393000										HNSCC(13;0.011)			169	199					0	0	1	0	0
RTTN	25914	broad.mit.edu	37	18	67836099	67836099	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr18:67836099C>A	ENST00000255674.6	-	12	1967	c.1681G>T	c.(1681-1683)Ggg>Tgg	p.G561W	RTTN_ENST00000454359.1_Missense_Mutation_p.G561W|RTTN_ENST00000437017.1_Missense_Mutation_p.G561W	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	561							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				ACCTCTTTCCCAATATCAGAC	0.294000													23	41					3.5997e-14	5.44892e-14	1	1	0
SEL1L2	80343	broad.mit.edu	37	20	13846064	13846064	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr20:13846064G>C	ENST00000284951.5	-	16	1575	c.1501C>G	c.(1501-1503)Cag>Gag	p.Q501E	SEL1L2_ENST00000378072.5_Intron|SEL1L2_ENST00000486903.1_Intron			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	501						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						AGTGCATACTGAACAAGAGAA	0.403000													31	81					0	0	1	0	0
CPA1	1357	broad.mit.edu	37	7	130023612	130023612	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr7:130023612G>T	ENST00000011292.3	+	6	823	c.673G>T	c.(673-675)Ggc>Tgc	p.G225C	CPA1_ENST00000484324.1_Missense_Mutation_p.G137C	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	225					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					CAACCCTGATGGCTTTGCCTT	0.562000													13	74					0.00185496	0.00198582	1	1	0
NPR3	4883	broad.mit.edu	37	5	32789509	32789509	+	Translation_Start_Site	SNP	T	T	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr5:32789509T>A	ENST00000326958.1	+	1	565	c.2T>A	c.(1-3)aTg>aAg	p.M1K	NPR3_ENST00000265074.8_3'UTR																							ACAGGTTTCATGAGAAGGTCC	0.408000													81	83					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179579216	179579216	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr2:179579216G>A	ENST00000589042.1	-	91	26509	c.26285C>T	c.(26284-26286)gCt>gTt	p.A8762V	TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.A8445V|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.A7518V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8445	Ig-like 70.						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)			AATGGGTTCAGCGCCTTCAAT	0.413000													12	40					0	0	1	0	0
KRT38	8687	broad.mit.edu	37	17	39596429	39596429	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr17:39596429C>A	ENST00000246646.3	-	2	558	c.559G>T	c.(559-561)Gat>Tat	p.D187Y		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	187	Coil 1B.|Rod.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				CTAAAGTCATCGGCAGCCAGC	0.517000													14	36					2.32078e-09	3.06243e-09	1	1	0
ZCCHC5	203430	broad.mit.edu	37	X	77913325	77913325	+	Missense_Mutation	SNP	T	T	C			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chrX:77913325T>C	ENST00000321110.1	-	2	888	c.593A>G	c.(592-594)cAg>cGg	p.Q198R		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	198							nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TAGGAATTCCTGGGCATTTGA	0.547000													14	19					0	0	1	0	0
CLOCK	9575	broad.mit.edu	37	4	56344980	56344980	+	Splice_Site	SNP	A	A	G			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr4:56344980A>G	ENST00000309964.4	-	5	507		c.e5+1		CLOCK_ENST00000513440.1_Splice_Site|CLOCK_ENST00000381322.1_Splice_Site	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator						circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			TTAAAAATTTACCTTTATGTT	0.348000													8	36					0	0	1	0	0
MTMR12	54545	broad.mit.edu	37	5	32263237	32263237	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr5:32263237C>T	ENST00000382142.3	-	7	865	c.695G>A	c.(694-696)gGc>gAc	p.G232D	MTMR12_ENST00000280285.5_Missense_Mutation_p.G232D|MTMR12_ENST00000264934.5_Missense_Mutation_p.G232D	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	232	Myotubularin phosphatase.					cytoplasm	phosphatase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GACTTTATAGCCTTCGTTGAC	0.423000													19	112					0	0	1	0	0
CC2D1A	54862	broad.mit.edu	37	19	14034203	14034203	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr19:14034203G>T	ENST00000318003.7	+	15	1940	c.1699G>T	c.(1699-1701)Ggt>Tgt	p.G567C	CC2D1A_ENST00000589606.1_Missense_Mutation_p.G567C	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	567					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			GCCTGGCCCGGGTCTGTCTCA	0.687000													28	44					6.32553e-13	9.18564e-13	1	1	0
OR5W2	390148	broad.mit.edu	37	11	55681632	55681632	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr11:55681632G>T	ENST00000344514.1	-	1	426	c.427C>A	c.(427-429)Cta>Ata	p.L143I		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GTCAAGAGTAGATAGCACACT	0.463000													27	48					7.41945e-09	9.48128e-09	1	1	0
ECE1	1889	broad.mit.edu	37	1	21548312	21548312	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr1:21548312C>G	ENST00000415912.2	-	18	2141	c.2016G>C	c.(2014-2016)aaG>aaC	p.K672N	ECE1_ENST00000374893.6_Missense_Mutation_p.K688N|ECE1_ENST00000357071.4_Missense_Mutation_p.K676N|ECE1_ENST00000436918.2_Intron|ECE1_ENST00000264205.6_Missense_Mutation_p.K685N	NM_001113348.1	NP_001106819.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	688					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		CAGCCCCGTTCTTCTTCACCC	0.567000													60	123					0	0	1	0	0
GCC1	79571	broad.mit.edu	37	7	127224324	127224324	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr7:127224324C>T	ENST00000321407.2	-	1	1337	c.913G>A	c.(913-915)Gaa>Aaa	p.E305K	GCC1_ENST00000497650.1_Intron	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	305						Golgi membrane|plasma membrane	protein binding			breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GCCTGCAGTTCACTTTTCAGC	0.542000											OREG0003809	type=REGULATORY REGION|Gene=GCC1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	12	59					0	0	1	0	0
TRBV27	28560	broad.mit.edu	37	7	142423636	142423636	+	RNA	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr7:142423636G>T	ENST00000506718.1	+	0	644				TRBV27_ENST00000390399.3_RNA																							CCTGATCCTGGAGTCGCCCAG	0.498000													13	35					0.00244969	0.00260414	1	1	0
CHGB	1114	broad.mit.edu	37	20	5903218	5903218	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr20:5903218C>A	ENST00000378961.4	+	4	632	c.428C>A	c.(427-429)cCc>cAc	p.P143H		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	143						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						AGCCTCTATCCCTCCGACAGC	0.572000													16	29					1.5739e-10	2.1517e-10	1	1	0
RASA1	5921	broad.mit.edu	37	5	86686669	86686669	+	Missense_Mutation	SNP	A	A	G			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr5:86686669A>G	ENST00000456692.2	+	25	2697	c.2582A>G	c.(2581-2583)aAc>aGc	p.N861S	RASA1_ENST00000274376.6_Missense_Mutation_p.N1038S|RASA1_ENST00000512763.1_Missense_Mutation_p.N871S|RASA1_ENST00000506290.1_Missense_Mutation_p.N872S	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	1038	Ras-GAP.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		CAAAAACAAAACCAGTATACA	0.398000													7	46					0	0	1	0	0
FHOD3	80206	broad.mit.edu	37	18	34322723	34322723	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr18:34322723C>A	ENST00000257209.4	+	19	3380	c.3258C>A	c.(3256-3258)gaC>gaA	p.D1086E	FHOD3_ENST00000591635.1_Missense_Mutation_p.D282E|FHOD3_ENST00000445677.1_Missense_Mutation_p.D1048E|FHOD3_ENST00000592128.1_Missense_Mutation_p.D65E|FHOD3_ENST00000590592.1_Missense_Mutation_p.D1261E|FHOD3_ENST00000359247.4_Missense_Mutation_p.D1069E	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1069	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CACTCCTGGACCTGAAGGAAG	0.358000													1027	212					1.68166e-309	3.20997e-309	1	1	0
NELL1	4745	broad.mit.edu	37	11	20869207	20869207	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr11:20869207G>T	ENST00000298925.5	+	5	651	c.498G>T	c.(496-498)gaG>gaT	p.E166D	NELL1_ENST00000532434.1_Missense_Mutation_p.E138D|NELL1_ENST00000325319.5_Intron|NELL1_ENST00000357134.5_Missense_Mutation_p.E138D			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	138	TSP N-terminal.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						CAAGGACAGAGGCACTTCCTT	0.478000													11	29					0.000673444	0.000727367	1	1	0
BARD1	580	broad.mit.edu	37	2	215645577	215645577	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr2:215645577G>C	ENST00000260947.4	-	4	1155	c.1021C>G	c.(1021-1023)Ctg>Gtg	p.L341V	BARD1_ENST00000449967.2_Missense_Mutation_p.L197V	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	341					cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTGGTGCTCAGAATGCTGGTT	0.403000									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				15	120					0	0	1	0	0
CDHR1	92211	broad.mit.edu	37	10	85968013	85968013	+	Silent	SNP	C	C	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr10:85968013C>T	ENST00000372117.3	+	11	1150	c.1047C>T	c.(1045-1047)caC>caT	p.H349H	CDHR1_ENST00000440770.2_Silent_p.H108H|CDHR1_ENST00000332904.3_Silent_p.H349H	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	349	Cadherin 3.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						TCAACAACCACCCGCCAACAT	0.592000													14	57					0	0	1	0	0
LRFN2	57497	broad.mit.edu	37	6	40399511	40399511	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr6:40399511G>A	ENST00000338305.6	-	2	1884	c.1342C>T	c.(1342-1344)Cgg>Tgg	p.R448W		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	448	Fibronectin type-III.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					ATCTTCACCCGGGGTGCTGAC	0.592000													19	87					0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138442386	138442386	+	Missense_Mutation	SNP	A	A	G			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr4:138442386A>G	ENST00000344876.4	-	4	3591	c.3205T>C	c.(3205-3207)Tgt>Cgt	p.C1069R	PCDH18_ENST00000511115.1_Missense_Mutation_p.C249R|PCDH18_ENST00000507846.1_Missense_Mutation_p.C848R|PCDH18_ENST00000510305.1_Missense_Mutation_p.C280R|PCDH18_ENST00000412923.2_Missense_Mutation_p.C1068R	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	1069	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GGCGGCCCACAGTTGGTGGTG	0.542000													16	31					0	0	1	0	0
PCSK4	54760	broad.mit.edu	37	19	1488000	1488000	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr19:1488000C>T	ENST00000300954.5	-	4	540	c.479G>A	c.(478-480)gGc>gAc	p.G160D	PCSK4_ENST00000587784.1_5'UTR	NM_017573.3	NP_060043.2	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	160	Catalytic (By similarity).				proteolysis	integral to membrane	serine-type endopeptidase activity			cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTCTCGATGCCATCGTCCAG	0.677000													43	95					0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8185546	8185546	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr8:8185546C>A	ENST00000520004.1	-	5	3010	c.2746G>T	c.(2746-2748)Gcc>Tcc	p.A916S	SGK223_ENST00000330777.4_Missense_Mutation_p.A916S			Q86YV5	SG223_HUMAN		916							ATP binding|non-membrane spanning protein tyrosine kinase activity										GAGGATGAGGCGGAGGGGGCC	0.667000													22	60					1.40151e-16	2.21541e-16	1	1	0
GPR158	57512	broad.mit.edu	37	10	25886815	25886815	+	Missense_Mutation	SNP	A	A	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr10:25886815A>T	ENST00000376351.3	+	11	2619	c.2260A>T	c.(2260-2262)Atc>Ttc	p.I754F	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	754						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AGGTCGTTCCATCATGAGACG	0.522000													57	173					0	0	1	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1873470	1873470	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr8:1873470G>A	ENST00000518288.1	+	23	2745	c.2582G>A	c.(2581-2583)tGg>tAg	p.W861*	ARHGEF10_ENST00000520359.1_Nonsense_Mutation_p.W799*|ARHGEF10_ENST00000398564.1_Nonsense_Mutation_p.W862*|ARHGEF10_ENST00000349830.3_Nonsense_Mutation_p.W837*|ARHGEF10_ENST00000262112.6_Nonsense_Mutation_p.W862*			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	862					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		CACATGGGCTGGTTCTGTGTG	0.488000													16	36					0	0	1	0	0
BOD1L1	259282	broad.mit.edu	37	4	13616969	13616969	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr4:13616969C>A	ENST00000040738.5	-	3	661	c.526G>T	c.(526-528)Gat>Tat	p.D176Y		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	176							DNA binding										GGTTTCTCATCATCGGGAGCT	0.428000													53	176					2.23044e-30	4.09026e-30	1	1	0
GALNT14	79623	broad.mit.edu	37	2	31189121	31189121	+	Missense_Mutation	SNP	A	A	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr2:31189121A>T	ENST00000349752.5	-	3	986	c.347T>A	c.(346-348)aTc>aAc	p.I116N	GALNT14_ENST00000420311.2_Missense_Mutation_p.I81N|GALNT14_ENST00000406653.1_Missense_Mutation_p.I96N|GALNT14_ENST00000324589.5_Missense_Mutation_p.I121N|GALNT14_ENST00000356174.3_Intron	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	116	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					GAAGGTGATGATGATGCTAGT	0.572000													8	36					0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31920385	31920385	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr7:31920385C>A	ENST00000396184.3	-	4	421	c.217G>T	c.(217-219)Gaa>Taa	p.E73*	PDE1C_ENST00000396182.2_Nonsense_Mutation_p.E73*|PDE1C_ENST00000396193.1_Nonsense_Mutation_p.E133*|PDE1C_ENST00000396191.1_Nonsense_Mutation_p.E73*|PDE1C_ENST00000321453.7_Nonsense_Mutation_p.E73*	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	73					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TACACAGATTCAAGCACTGTG	0.328000													39	73					1.47244e-24	2.57572e-24	1	1	0
TRIML2	205860	broad.mit.edu	37	4	189012654	189012654	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr4:189012654G>T	ENST00000512729.1	-	7	1411	c.1037C>A	c.(1036-1038)tCc>tAc	p.S346Y	TRIML2_ENST00000326754.3_Missense_Mutation_p.S371Y	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	346	B30.2/SPRY.						ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		GGCGCAATGGGAGAAATTGTA	0.483000													43	78					6.1244e-12	8.66553e-12	1	1	0
PCDH15	65217	broad.mit.edu	37	10	55569024	55569024	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr10:55569024C>G	ENST00000395445.1	-	36	5180	c.4786G>C	c.(4786-4788)Gta>Cta	p.V1596L	PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395442.1_Missense_Mutation_p.V461L|PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000395440.1_Missense_Mutation_p.V530L|PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000395446.1_Missense_Mutation_p.V792L|PCDH15_ENST00000373965.2_Intron	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCTGATTCTACAGTGCTTTCT	0.453000										HNSCC(58;0.16)			7	60					0	0	1	0	0
RUNDC3B	154661	broad.mit.edu	37	7	87369118	87369118	+	Missense_Mutation	SNP	A	A	C			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr7:87369118A>C	ENST00000338056.3	+	6	932	c.521A>C	c.(520-522)gAa>gCa	p.E174A	RUNDC3B_ENST00000496000.1_3'UTR|RUNDC3B_ENST00000493037.1_Missense_Mutation_p.E157A|RUNDC3B_ENST00000394654.3_Missense_Mutation_p.E157A	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	174	RUN.									breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					AGATTTTATGAAGATGGAGCA	0.333000													5	20					0	0	1	0	0
SLC12A6	9990	broad.mit.edu	37	15	34546748	34546748	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr15:34546748C>G	ENST00000354181.3	-	9	1411	c.919G>C	c.(919-921)Gca>Cca	p.A307P	SLC12A6_ENST00000451844.2_Missense_Mutation_p.A119P|SLC12A6_ENST00000558589.1_Missense_Mutation_p.A298P|SLC12A6_ENST00000458406.2_Missense_Mutation_p.A248P|SLC12A6_ENST00000560611.1_Missense_Mutation_p.A307P|SLC12A6_ENST00000558667.1_Missense_Mutation_p.A307P|SLC12A6_ENST00000397702.2_Missense_Mutation_p.A248P|SLC12A6_ENST00000397707.2_Missense_Mutation_p.A292P|SLC12A6_ENST00000560164.1_Missense_Mutation_p.A119P|SLC12A6_ENST00000290209.5_Missense_Mutation_p.A256P			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	307					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	TCCTTGAGTGCGTCATCACTG	0.403000													13	56					0	0	1	0	0
TCL6	27004	broad.mit.edu	37	14	96134629	96134629	+	RNA	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr14:96134629G>T	ENST00000467865.1	+	0	1821				RP11-1070N10.6_ENST00000461160.1_RNA																large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		ATTGACCAATGCTGTCTACAG	0.512000			T	TRA@	T-ALL								17	98					2.23348e-06	2.68993e-06	1	1	0
TENM4	26011	broad.mit.edu	37	11	78381536	78381536	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr11:78381536G>T	ENST00000278550.7	-	32	6316	c.5854C>A	c.(5854-5856)Cgc>Agc	p.R1952S		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		GAAGAGAGGCGGTCATTCTTG	0.542000													27	43					3.73988e-18	6.10244e-18	1	1	0
MBD2	8932	broad.mit.edu	37	18	51731388	51731388	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr18:51731388C>T	ENST00000256429.3	-	2	910	c.682G>A	c.(682-684)Gat>Aat	p.D228N	MBD2_ENST00000583046.1_Missense_Mutation_p.D228N|MBD2_ENST00000398398.2_Missense_Mutation_p.D228N	NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2	228					transcription, DNA-dependent		C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding			breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)	Hexobarbital(DB01355)	TTGAGAGGATCGTTTCGCAGT	0.363000													41	82					0	0	1	0	0
UGT3A1	133688	broad.mit.edu	37	5	35957301	35957301	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr5:35957301C>A	ENST00000274278.3	-	5	1421	c.1064G>T	c.(1063-1065)aGt>aTt	p.S355I	UGT3A1_ENST00000507113.1_Missense_Mutation_p.S321I|UGT3A1_ENST00000503189.1_Missense_Mutation_p.S355I|UGT3A1_ENST00000513233.1_5'UTR	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	355						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAGGAGGTCACTCTGAGGAAG	0.493000													33	29					2.85442e-18	4.67016e-18	1	1	0
FAM171B	165215	broad.mit.edu	37	2	187627367	187627367	+	Silent	SNP	A	A	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr2:187627367A>T	ENST00000304698.5	+	8	2501	c.2298A>T	c.(2296-2298)ggA>ggT	p.G766G		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	766						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TCCTAGATGGAGGGAGTGGAG	0.488000													28	74					0	0	1	0	0
SPAG11B	10407	broad.mit.edu	37	8	7308259	7308259	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr8:7308259C>A	ENST00000398462.2	-	3	528	c.378G>T	c.(376-378)gaG>gaT	p.E126D	SPAG11B_ENST00000359758.5_Intron|SPAG11B_ENST00000458665.1_Missense_Mutation_p.E73D|SPAG11B_ENST00000361111.2_Intron|SPAG11B_ENST00000297498.2_3'UTR|SPAG11B_ENST00000528168.1_3'UTR	NM_058201.2	NP_478108.2	Q08648	SG11B_HUMAN	sperm associated antigen 11B	0					spermatogenesis	extracellular region				large_intestine(2)|lung(3)|urinary_tract(1)	6				COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		TGCCATCCATCTCTGGTTTCT	0.433000													5	12					0.014758	0.0152608	1	1	0
OSBPL6	114880	broad.mit.edu	37	2	179197661	179197661	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr2:179197661C>T	ENST00000190611.4	+	8	926	c.550C>T	c.(550-552)Cag>Tag	p.Q184*	OSBPL6_ENST00000357080.4_Nonsense_Mutation_p.Q184*|OSBPL6_ENST00000315022.2_Nonsense_Mutation_p.Q163*|OSBPL6_ENST00000409045.3_Nonsense_Mutation_p.Q184*|OSBPL6_ENST00000409631.1_Nonsense_Mutation_p.Q184*|OSBPL6_ENST00000392505.2_Nonsense_Mutation_p.Q184*|OSBPL6_ENST00000359685.3_Nonsense_Mutation_p.Q184*	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	184					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			GTTGTATCGTCAGAATGAAAT	0.413000													24	134					0	0	1	0	0
DCAF12	25853	broad.mit.edu	37	9	34089569	34089569	+	Silent	SNP	G	G	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr9:34089569G>A	ENST00000361264.4	-	8	1385	c.1044C>T	c.(1042-1044)ttC>ttT	p.F348F	RP11-537H15.3_ENST00000448245.1_RNA	NM_015397.3	NP_056212.1	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	348						centrosome|CUL4 RING ubiquitin ligase complex				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						TGTGCTCGTAGAAACTCACTG	0.488000													10	42					0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	28901622	28901622	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr13:28901622G>T	ENST00000282397.4	-	20	3024	c.2773C>A	c.(2773-2775)Cgt>Agt	p.R925S	FLT1_ENST00000540678.1_Missense_Mutation_p.R143S	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	925	Protein kinase.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	AATAAGTCACGTTTGCTCTTG	0.388000													7	26					8.12818e-05	9.03628e-05	1	1	0
XRCC6BP1	91419	broad.mit.edu	37	12	58335607	58335607	+	Silent	SNP	C	C	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr12:58335607C>T	ENST00000300145.3	+	1	248	c.123C>T	c.(121-123)ttC>ttT	p.F41F		NM_033276.2	NP_150592.1	Q9Y6H3	ATP23_HUMAN	XRCC6 binding protein 1	41					double-strand break repair via nonhomologous end joining	DNA-dependent protein kinase-DNA ligase 4 complex	DNA-dependent protein kinase activity|metal ion binding|metalloendopeptidase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	11						AGCAAGGGTTCTTCTCCAGCT	0.632000													16	100					0	0	1	0	0
DIAPH3	81624	broad.mit.edu	37	13	60498954	60498954	+	Missense_Mutation	SNP	T	T	C			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr13:60498954T>C	ENST00000400324.4	-	18	2345	c.2125A>G	c.(2125-2127)Att>Gtt	p.I709V	DIAPH3_ENST00000400319.1_Missense_Mutation_p.I639V|DIAPH3_ENST00000377908.2_Missense_Mutation_p.I698V|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000267215.4_Missense_Mutation_p.I709V|DIAPH3_ENST00000400320.1_Missense_Mutation_p.I663V|DIAPH3_ENST00000400330.1_Missense_Mutation_p.I709V	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	709	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AGTTCTTTAATTTTTTTCTTA	0.303000													5	14					0	0	1	0	0
TMEM156	80008	broad.mit.edu	37	4	38995480	38995480	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr4:38995480C>A	ENST00000381938.3	-	3	604	c.497G>T	c.(496-498)gGa>gTa	p.G166V		NM_024943.1	NP_079219.1	Q8N614	TM156_HUMAN	transmembrane protein 156	166						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						TGTTGATCTTCCAGTGTGGTT	0.393000													38	115					8.16277e-20	1.36496e-19	1	1	0
FBXL19	54620	broad.mit.edu	37	16	30941470	30941470	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr16:30941470G>A	ENST00000338343.4	+	7	1253	c.866G>A	c.(865-867)cGt>cAt	p.R289H	FBXL19_ENST00000565690.1_Missense_Mutation_p.R173H|FBXL19_ENST00000562319.1_Missense_Mutation_p.R289H|FBXL19_ENST00000471231.2_5'UTR|FBXL19_ENST00000380310.2_Missense_Mutation_p.R309H			Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	309	Pro-rich.						DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						AAGCTAGAGCGTTTCAAGCGG	0.627000													24	60					0	0	1	0	0
WNT10A	80326	broad.mit.edu	37	2	219754831	219754831	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr2:219754831G>T	ENST00000258411.3	+	3	1135	c.502G>T	c.(502-504)Gag>Tag	p.E168*		NM_025216.2	NP_079492.2	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family, member 10A	168					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGGGACGAGGAGGCCTTCCG	0.662000													17	56					4.7546e-09	6.12748e-09	1	1	0
ABCB1	5243	broad.mit.edu	37	7	87160609	87160609	+	Splice_Site	SNP	C	C	G			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr7:87160609C>G	ENST00000265724.3	-	22	3103		c.e22+1		ABCB1_ENST00000543898.1_Splice_Site|ABCB1_ENST00000488737.2_Splice_Site	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1						G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	GTTTGACTCACCTTCCCAGAA	0.343000													10	52					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10466539	10466539	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr8:10466539T>A	ENST00000382483.3	-	4	5292	c.5069A>T	c.(5068-5070)cAg>cTg	p.Q1690L		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1690					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CAGAATCTGCTGCAGGTCAAA	0.607000													18	63					0	0	1	0	0
PCDH7	5099	broad.mit.edu	37	4	30725602	30725602	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr4:30725602T>A	ENST00000361762.2	+	1	3566	c.2558T>A	c.(2557-2559)aTa>aAa	p.I853K	PCDH7_ENST00000543491.1_Missense_Mutation_p.I853K	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	853	Cadherin 7.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GACTCCCAGATAGCTAGAAGT	0.478000													23	59					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9417672	9417672	+	Missense_Mutation	SNP	T	T	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr20:9417672T>A	ENST00000378501.2	+	26	2616	c.2601T>A	c.(2599-2601)agT>agA	p.S867R	PLCB4_ENST00000414679.2_Missense_Mutation_p.S879R|PLCB4_ENST00000334005.3_Missense_Mutation_p.S867R|PLCB4_ENST00000378473.3_Missense_Mutation_p.S879R|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Missense_Mutation_p.S867R|PLCB4_ENST00000278655.4_Missense_Mutation_p.S867R	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	867					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						ACGTGCCCAGTGACACTTCCA	0.458000													6	39					0	0	1	0	0
MGAT3	4248	broad.mit.edu	37	22	39884250	39884250	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr22:39884250G>T	ENST00000341184.6	+	2	1113	c.898G>T	c.(898-900)Ggc>Tgc	p.G300C		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	300					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					CACCCAGGACGGCGTCTCGCG	0.657000													39	69					3.21399e-22	5.52661e-22	1	1	0
XIRP2	129446	broad.mit.edu	37	2	168104712	168104712	+	Silent	SNP	C	C	G			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr2:168104712C>G	ENST00000409195.1	+	9	6899	c.6810C>G	c.(6808-6810)tcC>tcG	p.S2270S	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Silent_p.S2270S|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Silent_p.S2048S|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2095					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGGAAAGGTCCTTGAATCCAA	0.423000													33	78					0	0	1	0	0
PDE10A	10846	broad.mit.edu	37	6	165752815	165752815	+	Silent	SNP	A	A	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr6:165752815A>T	ENST00000366882.1	-	21	2254	c.2100T>A	c.(2098-2100)ccT>ccA	p.P700P	PDE10A_ENST00000539869.2_Silent_p.P710P|PDE10A_ENST00000354448.4_Silent_p.P700P			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	700					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	TCATAGGAATAGGCTGTATTC	0.343000													11	92					0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57193782	57193782	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr7:57193782C>G	ENST00000331162.4	-	4	475	c.205G>C	c.(205-207)Gag>Cag	p.E69Q		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	69	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TTATTTTGCTCCAGACAGGTG	0.378000													20	79					0	0	1	0	0
PLCB3	5331	broad.mit.edu	37	11	64022373	64022373	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr11:64022373C>T	ENST00000540288.1	+	4	353	c.250C>T	c.(250-252)Ccc>Tcc	p.P84S	PLCB3_ENST00000279230.6_Missense_Mutation_p.P84S|PLCB3_ENST00000325234.5_Intron	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	84					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						TACTCAGGACCCCAAGATCCG	0.632000													3	32					0	0	1	0	0
PSD3	23362	broad.mit.edu	37	8	18658841	18658841	+	Silent	SNP	T	T	C			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr8:18658841T>C	ENST00000440756.2	-	7	2064	c.1962A>G	c.(1960-1962)agA>agG	p.R654R	PSD3_ENST00000286485.8_Silent_p.R120R|PSD3_ENST00000523619.1_Silent_p.R589R|PSD3_ENST00000327040.8_Silent_p.R654R			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	654	SEC7.				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		GTATTAAAACTCTCTCTCGTT	0.299000													8	28					0	0	1	0	0
CPT1C	126129	broad.mit.edu	37	19	50214066	50214066	+	Silent	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr19:50214066G>T	ENST00000392518.4	+	16	2190	c.1818G>T	c.(1816-1818)acG>acT	p.T606T	CPT1C_ENST00000354199.5_Silent_p.T606T|CPT1C_ENST00000598293.1_Silent_p.T606T|CPT1C_ENST00000323446.5_Silent_p.T606T|CPT1C_ENST00000405931.2_Silent_p.T595T	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	606					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		GGTCTTGCACGAGGGAGGCCT	0.572000													16	27					4.14922e-12	5.91215e-12	1	1	0
PTGIS	5740	broad.mit.edu	37	20	48129704	48129704	+	Silent	SNP	T	T	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr20:48129704T>A	ENST00000244043.4	-	8	1148	c.1119A>T	c.(1117-1119)cgA>cgT	p.R373R	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	373					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|prostaglandin-I synthase activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	GGTTGAATTCTCGCCCGTCTG	0.602000													28	93					0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43546757	43546757	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr7:43546757G>C	ENST00000395891.1	+	22	4258	c.3653G>C	c.(3652-3654)aGa>aCa	p.R1218T	HECW1_ENST00000453890.1_Missense_Mutation_p.R1184T	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1218					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GCCAGTGCAAGAGCCCCTTCC	0.458000													9	93					0	0	1	0	0
THBS2	7058	broad.mit.edu	37	6	169632179	169632179	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr6:169632179C>G	ENST00000366787.3	-	14	2296	c.2047G>C	c.(2047-2049)Ggc>Cgc	p.G683R	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	683	EGF-like 3.				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)		CCCGCGTAGCCTGTCTGGCAC	0.617000													22	62					0	0	1	0	0
PPP3CA	5530	broad.mit.edu	37	4	101947159	101947159	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr4:101947159C>A	ENST00000394854.3	-	14	2112	c.1429G>T	c.(1429-1431)Gac>Tac	p.D477Y	PPP3CA_ENST00000512215.1_Missense_Mutation_p.D245Y|PPP3CA_ENST00000323055.6_Missense_Mutation_p.D425Y|PPP3CA_ENST00000507176.1_Missense_Mutation_p.D379Y|PPP3CA_ENST00000394853.4_Missense_Mutation_p.D467Y|PPP3CA_ENST00000523694.2_Missense_Mutation_p.D410Y	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	477	Inhibitory domain.				protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		TTAATTCGGTCTAAGCCCTTG	0.453000													36	119					2.42023e-17	3.8762e-17	1	1	0
CDH10	1008	broad.mit.edu	37	5	24488174	24488174	+	Silent	SNP	C	C	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr5:24488174C>T	ENST00000264463.4	-	12	2472	c.1965G>A	c.(1963-1965)gtG>gtA	p.V655V	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	655					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CGTTATAGCTCACAATGTTGT	0.453000										HNSCC(23;0.051)			11	94					0	0	1	0	0
CDH11	1009	broad.mit.edu	37	16	64982513	64982513	+	Splice_Site	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr16:64982513G>T	ENST00000394156.3	-	13	2525	c.2073_splice	c.e13+1	p.T691_splice	CDH11_ENST00000268603.4_Intron|CDH11_ENST00000566827.1_Intron			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	0					adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		AAGTCTTACCGTAAGTGTGGT	0.423000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			11	27					2.80697e-09	3.65629e-09	1	1	0
POLL	27343	broad.mit.edu	37	10	103342589	103342589	+	Silent	SNP	G	G	T	rs41291484	byFrequency	TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr10:103342589G>T	ENST00000370162.3	-	7	1619	c.1125C>A	c.(1123-1125)atC>atA	p.I375I	POLL_ENST00000370169.1_Silent_p.I375I|POLL_ENST00000370158.3_Silent_p.I100I|POLL_ENST00000299206.4_Silent_p.I375I|POLL_ENST00000370168.3_Silent_p.I48I|DPCD_ENST00000470165.1_Intron|POLL_ENST00000456836.2_Silent_p.I112I|POLL_ENST00000370172.1_Silent_p.I287I|POLL_ENST00000339310.3_Silent_p.I98I|DPCD_ENST00000416979.2_Intron	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	375					DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding	p.I375I(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		GCTTCAGGCCGATGGCCTGCT	0.567000								DNA polymerases (catalytic subunits)					14	92					0.000219431	0.000242614	1	1	0
RYR1	6261	broad.mit.edu	37	19	39026033	39026033	+	Splice_Site	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr19:39026033G>T	ENST00000355481.4	+	80	11632		c.e80+1		RYR1_ENST00000360985.3_Splice_Site|RYR1_ENST00000359596.3_Splice_Site	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)						muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AAACATGCAGGTAGGTTCGAG	0.507000													28	52					2.24059e-21	3.799e-21	1	1	0
PCDHB1	29930	broad.mit.edu	37	5	140432971	140432971	+	Missense_Mutation	SNP	A	A	C			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr5:140432971A>C	ENST00000306549.3	+	1	1993	c.1916A>C	c.(1915-1917)cAg>cCg	p.Q639P		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		639	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCATGATGCAGAAATTGATC	0.443000													51	115					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108163735	108163735	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr3:108163735G>T	ENST00000273353.3	-	23	2523	c.2467C>A	c.(2467-2469)Ctt>Att	p.L823I		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	823						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						ATCAAAATAAGTGCATCCCTA	0.368000													9	53					7.48243e-07	9.21265e-07	1	1	0
ZMYM5	9205	broad.mit.edu	37	13	20411925	20411925	+	Missense_Mutation	SNP	T	T	C			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr13:20411925T>C	ENST00000382907.4	-	5	759	c.623A>G	c.(622-624)cAg>cGg	p.Q208R	ZMYM5_ENST00000337963.4_Silent_p.P303P|ZMYM5_ENST00000382905.4_Silent_p.P303P	NM_001039649.2	NP_001034738.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	0						nucleus	zinc ion binding			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		TTGATTCTACTGGAAGAATGA	0.308000													15	25					0	0	1	0	0
SLC6A11	6538	broad.mit.edu	37	3	10885953	10885953	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr3:10885953G>T	ENST00000254488.2	+	5	744	c.678G>T	c.(676-678)tgG>tgT	p.W226C		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	226					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		ACCTTCGCTGGGAGCTGGCCT	0.587000													26	36					1.85244e-09	2.44974e-09	1	1	0
SPTA1	6708	broad.mit.edu	37	1	158590067	158590067	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr1:158590067C>A	ENST00000368148.3	-	44	6490	c.6310G>T	c.(6310-6312)Gag>Tag	p.E2104*	SPTA1_ENST00000368147.3_Nonsense_Mutation_p.E2101*	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2104					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGGTCTAGCTCCAGCAAACAT	0.512000													54	71					1.46156e-29	2.66416e-29	1	1	0
RAB6A	5870	broad.mit.edu	37	11	73429731	73429731	+	Silent	SNP	T	T	C	rs3182744		TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr11:73429731T>C	ENST00000336083.3	-	4	671	c.216A>G	c.(214-216)caA>caG	p.Q72Q	RAB6A_ENST00000310653.6_Intron|RAB6A_ENST00000541588.1_Intron|RAB6A_ENST00000536566.1_Intron	NM_198896.1	NP_942599.1	P20340	RAB6A_HUMAN	RAB6A, member RAS oncogene family	72					minus-end-directed organelle transport along microtubule|peptidyl-cysteine methylation|protein targeting to Golgi|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction	cytoplasmic vesicle|cytosol|Golgi membrane|trans-Golgi network	GTP binding|GTPase activity|protein domain specific binding			large_intestine(2)|lung(2)	4						TGAACCGCTCTTGACCTGCTG	0.408000													31	37					0	0	1	0	0
ZXDC	79364	broad.mit.edu	37	3	126190819	126190819	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr3:126190819C>A	ENST00000389709.3	-	3	1189	c.1136G>T	c.(1135-1137)aGa>aTa	p.R379I	ZXDC_ENST00000336332.5_Missense_Mutation_p.R379I	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	379					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		GGATTACCTTCTGTGCCTTAG	0.363000													4	26					0.00024832	0.000273062	1	1	0
DNM1P47	100216544	broad.mit.edu	37	15	102292770	102292770	+	RNA	SNP	C	C	T	rs149751844	by1000genomes	TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr15:102292770C>T	ENST00000561463.1	+	0	816																											AGCGGCGCGACGAGATGCTGC	0.597000													5	30					0	0	1	0	0
CHRNB4	1143	broad.mit.edu	37	15	78922111	78922111	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr15:78922111G>T	ENST00000261751.3	-	5	647	c.536C>A	c.(535-537)aCg>aAg	p.T179K	CHRNB4_ENST00000412074.2_Intron	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	179					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						GTCTATCTCCGTGTGGTCATA	0.557000													15	100					1.49906e-05	1.71361e-05	1	1	0
CPT1A	1374	broad.mit.edu	37	11	68574989	68574989	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr11:68574989G>T	ENST00000265641.5	-	4	553	c.399C>A	c.(397-399)caC>caA	p.H133Q	CPT1A_ENST00000540367.1_Missense_Mutation_p.H133Q|CPT1A_ENST00000539743.1_Missense_Mutation_p.H133Q|CPT1A_ENST00000376618.2_Missense_Mutation_p.H133Q	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	133					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	ACATCCACCCGTGGTAGGAGA	0.597000													14	29					0.0332995	0.0340857	1	1	0
IFI27	3429	broad.mit.edu	37	14	94582778	94582778	+	Splice_Site	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr14:94582778G>T	ENST00000555744.1	+	5	462		c.e5-1		IFI27_ENST00000298902.5_Splice_Site|IFI27_ENST00000557098.1_Splice_Site|IFI27_ENST00000448882.1_Splice_Site|IFI27_ENST00000557634.1_Splice_Site|IFI27_ENST00000444961.1_Splice_Site			P40305	IFI27_HUMAN	interferon, alpha-inducible protein 27						activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|type I interferon-mediated signaling pathway	integral to membrane|mitochondrion				breast(1)|lung(3)	4				Epithelial(152;0.112)|all cancers(159;0.187)|COAD - Colon adenocarcinoma(157;0.206)		CTTCTTCCCAGGAGCAACTGG	0.607000													8	10					5.18039e-06	6.12962e-06	1	1	0
GLYATL2	219970	broad.mit.edu	37	11	58605747	58605747	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr11:58605747C>A	ENST00000287275.1	-	3	563	c.173G>T	c.(172-174)cGg>cTg	p.R58L	GLYATL2_ENST00000532258.1_Missense_Mutation_p.R58L|GLYATL2_ENST00000533636.1_5'UTR	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	58						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	TTTCTGAGGCCGGGTAATGAC	0.463000													24	24					2.39556e-15	3.71895e-15	1	1	0
CPA2	1358	broad.mit.edu	37	7	129914997	129914997	+	Silent	SNP	C	C	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr7:129914997C>T	ENST00000222481.4	+	6	550	c.495C>T	c.(493-495)acC>acT	p.T165T		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	165					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					AGTTCAGCACCGGAGGAGACA	0.537000													5	43					0	0	1	0	0
MFAP3L	9848	broad.mit.edu	37	4	170912532	170912532	+	Silent	SNP	G	G	C			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr4:170912532G>C	ENST00000361618.3	-	3	1534	c.1227C>G	c.(1225-1227)gtC>gtG	p.V409V	MFAP3L_ENST00000393704.3_Silent_p.V306V|RP11-6E9.4_ENST00000508955.1_RNA	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	409						integral to membrane|plasma membrane		p.V409V(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		GTTGGTATTAGACATGGCTTT	0.473000													32	81					0	0	1	0	0
OR5V1	81696	broad.mit.edu	37	6	29323504	29323504	+	Missense_Mutation	SNP	C	C	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr6:29323504C>T	ENST00000377154.1	-	4	768	c.469G>A	c.(469-471)Gtg>Atg	p.V157M	OR5V1_ENST00000543825.1_Missense_Mutation_p.V157M			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GTATGCACCACTGAGTTAAGG	0.443000													22	97					0	0	1	0	0
ZNF407	55628	broad.mit.edu	37	18	72345667	72345667	+	Missense_Mutation	SNP	T	T	C			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr18:72345667T>C	ENST00000299687.5	+	1	2692	c.2692T>C	c.(2692-2694)Tgt>Cgt	p.C898R	ZNF407_ENST00000309902.6_Missense_Mutation_p.C898R|ZNF407_ENST00000582337.1_Missense_Mutation_p.C898R|ZNF407_ENST00000577538.1_Missense_Mutation_p.C898R	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	898					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GGAACGTCATTGTGCCACCAA	0.413000													16	59					0	0	1	0	0
MPP7	143098	broad.mit.edu	37	10	28348647	28348647	+	Silent	SNP	C	C	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr10:28348647C>T	ENST00000337532.5	-	15	1506	c.1230G>A	c.(1228-1230)caG>caA	p.Q410Q	MPP7_ENST00000445954.2_Silent_p.Q285Q|MPP7_ENST00000540098.1_Silent_p.Q410Q|MPP7_ENST00000375719.3_Silent_p.Q410Q|MPP7_ENST00000375732.1_Silent_p.Q410Q	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	410	Guanylate kinase-like.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						CATCACTCTCCTGGCTTCTTC	0.343000													15	54					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25887777	25887777	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr10:25887777G>T	ENST00000376351.3	+	11	3581	c.3222G>T	c.(3220-3222)tgG>tgT	p.W1074C	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1074						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.W1074*(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TATGCCTTTGGGAGAGCCAAG	0.478000													33	123					2.47316e-13	3.63488e-13	1	1	0
GPR82	27197	broad.mit.edu	37	X	41586834	41586834	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chrX:41586834C>A	ENST00000302548.4	+	3	795	c.555C>A	c.(553-555)agC>agA	p.S185R	CASK_ENST00000378163.1_Intron|CASK_ENST00000318588.9_Intron|CASK_ENST00000442742.2_Intron|CASK_ENST00000378158.1_Intron|CASK_ENST00000378166.4_Intron|CASK_ENST00000421587.2_Intron|CASK_ENST00000378154.1_Intron|CASK_ENST00000361962.4_Intron	NM_080817.4	NP_543007.1	Q96P67	GPR82_HUMAN	G protein-coupled receptor 82	185						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	10						GAGAAGAGAGCCTATGCTACA	0.408000													13	38					7.93312e-07	9.70848e-07	1	1	0
LRRC7	57554	broad.mit.edu	37	1	70504759	70504759	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr1:70504759G>T	ENST00000310961.5	+	22	3571	c.3153G>T	c.(3151-3153)aaG>aaT	p.K1051N	LRRC7_ENST00000035383.5_Missense_Mutation_p.K1046N|LRRC7_ENST00000415775.2_Missense_Mutation_p.K330N			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1046						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AAGCCGAAAAGAGGATACCAC	0.443000													9	48					2.17888e-05	2.48139e-05	1	1	0
NPAP1	23742	broad.mit.edu	37	15	24922625	24922625	+	Silent	SNP	C	C	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr15:24922625C>T	ENST00000329468.2	+	1	2085	c.1611C>T	c.(1609-1611)tcC>tcT	p.S537S		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CAGTCCCTTCCACCGGGACCT	0.532000													37	194					0	0	1	0	0
PCDHB15	56121	broad.mit.edu	37	5	140625958	140625958	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr5:140625958C>A	ENST00000231173.3	+	1	812	c.812C>A	c.(811-813)aCt>aAt	p.T271N		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		271	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GATTTAGACACTGGGACAAAT	0.483000													4	52					0.00909568	0.00942163	1	1	0
KCNJ6	3763	broad.mit.edu	37	21	39087298	39087298	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr21:39087298C>A	ENST00000400482.3	-	3	751	c.162G>T	c.(160-162)caG>caT	p.Q54H	KCNJ6_ENST00000288309.6_Missense_Mutation_p.Q54H	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	54					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	TCACGTACCTCTGGATTTTCC	0.522000													112	113					7.17885e-55	1.3575e-54	1	1	0
OR7D4	125958	broad.mit.edu	37	19	9325150	9325150	+	Silent	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr19:9325150G>T	ENST00000308682.2	-	1	392	c.364C>A	c.(364-366)Cgg>Agg	p.R122R		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						GCCACAAACCGGTCATAGGCC	0.502000													36	73					4.39465e-27	7.89216e-27	1	1	0
VWF	7450	broad.mit.edu	37	12	6058234	6058234	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr12:6058234C>A	ENST00000261405.5	-	52	8643	c.8389G>T	c.(8389-8391)Gag>Tag	p.E2797*		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2797	CTCK.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TTGAGAACCTCATGGTACACA	0.602000													12	22					5.50884e-06	6.4429e-06	1	1	0
MMRN1	22915	broad.mit.edu	37	4	90848962	90848962	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr4:90848962G>T	ENST00000394980.1	+	6	1291	c.972G>T	c.(970-972)atG>atT	p.M324I	MMRN1_ENST00000508372.1_Missense_Mutation_p.M66I|MMRN1_ENST00000264790.2_Missense_Mutation_p.M324I|MMRN1_ENST00000394981.1_Missense_Mutation_p.M290I			Q13201	MMRN1_HUMAN	multimerin 1	324					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TGCAAAAAATGACTGATCAGG	0.338000													14	91					3.45872e-05	3.88785e-05	1	1	0
DUSP13	51207	broad.mit.edu	37	10	76857553	76857553	+	Silent	SNP	C	C	T	rs143742220		TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr10:76857553C>T	ENST00000491677.2	-	6	1019	c.477G>A	c.(475-477)tcG>tcA	p.S159S	DUSP13_ENST00000607131.1_Silent_p.S123S|DUSP13_ENST00000607009.1_5'UTR|DUSP13_ENST00000478873.2_Silent_p.S166S|DUSP13_ENST00000605915.1_Silent_p.S52S|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000372700.3_Silent_p.S80S|DUSP13_ENST00000464872.1_Silent_p.S30S|DUSP13_ENST00000472493.2_Silent_p.S30S	NM_001007271.1	NP_001007272.1	Q6B8I1	MDSP_HUMAN	dual specificity phosphatase 13	23	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					AGCGCTGCAGCGAAGCCAATG	0.607000													11	26					0	0	1	0	0
PSD2	84249	broad.mit.edu	37	5	139193008	139193008	+	Silent	SNP	C	C	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr5:139193008C>T	ENST00000274710.3	+	3	691	c.486C>T	c.(484-486)gaC>gaT	p.D162D		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	162					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTCCCTAGACGGGCTGAGCC	0.657000													12	68					0	0	1	0	0
AKAP13	11214	broad.mit.edu	37	15	86124640	86124640	+	Missense_Mutation	SNP	A	A	G			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr15:86124640A>G	ENST00000394518.2	+	7	3436	c.3341A>G	c.(3340-3342)gAc>gGc	p.D1114G	AKAP13_ENST00000361243.2_Missense_Mutation_p.D1114G	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1114					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AACACCCAAGACATCCTGATT	0.488000													30	66					0	0	1	0	0
FBLN7	129804	broad.mit.edu	37	2	112922727	112922727	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr2:112922727G>T	ENST00000331203.2	+	3	656	c.385G>T	c.(385-387)Ggg>Tgg	p.G129W	FBLN7_ENST00000409903.1_Missense_Mutation_p.G129W|FBLN7_ENST00000409667.3_Missense_Mutation_p.G129W|FBLN7_ENST00000472377.1_3'UTR|FBLN7_ENST00000409450.3_Missense_Mutation_p.G129W	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	129	Sushi.				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CACCTGGACAGGGGAGCAGCC	0.557000													23	68					4.26978e-12	6.06968e-12	1	1	0
CMYA5	202333	broad.mit.edu	37	5	79030116	79030116	+	Missense_Mutation	SNP	C	C	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr5:79030116C>A	ENST00000446378.2	+	2	5559	c.5528C>A	c.(5527-5529)tCt>tAt	p.S1843Y		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1843						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)		AGCACCTCTTCTGAAGATAAA	0.363000													10	59					0.000673444	0.000727367	1	1	0
PDE6B	5158	broad.mit.edu	37	4	661735	661735	+	Missense_Mutation	SNP	G	G	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr4:661735G>A	ENST00000255622.6	+	21	2486	c.2443G>A	c.(2443-2445)Gag>Aag	p.E815K	PDE6B_ENST00000496514.1_Missense_Mutation_p.E815K|PDE6B_ENST00000429163.2_Missense_Mutation_p.E536K	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	815					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						TGATGAGTATGAGGCCAAAGT	0.577000													7	166					0	0	1	0	0
LMX1A	4009	broad.mit.edu	37	1	165182917	165182917	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr1:165182917G>T	ENST00000342310.3	-	5	1012	c.630C>A	c.(628-630)ttC>ttA	p.F210L	LMX1A_ENST00000367893.4_Missense_Mutation_p.F210L|LMX1A_ENST00000294816.2_Missense_Mutation_p.F210L	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	210						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					ATGAGGCCTTGAATGCTCGCC	0.562000													30	207					5.77227e-19	9.52111e-19	1	1	0
TCF20	6942	broad.mit.edu	37	22	42564737	42564737	+	Silent	SNP	G	G	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr22:42564737G>A	ENST00000359486.3	-	4	5941	c.5805C>T	c.(5803-5805)ccC>ccT	p.P1935P	TCF20_ENST00000404876.1_Intron|TCF20_ENST00000335626.4_Intron	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1935					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GGCACGGAAGGGGAGGCTGAC	0.622000											OREG0026603	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	13					0	0	1	0	0
EDN3	1908	broad.mit.edu	37	20	57876509	57876509	+	Missense_Mutation	SNP	G	G	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr20:57876509G>T	ENST00000311585.7	+	2	467	c.97G>T	c.(97-99)Gtg>Ttg	p.V33L	EDN3_ENST00000395654.3_Missense_Mutation_p.V33L|EDN3_ENST00000371025.3_Missense_Mutation_p.V33L|EDN3_ENST00000371028.2_Missense_Mutation_p.V33L|EDN3_ENST00000337938.2_Missense_Mutation_p.V33L	NM_207032.1	NP_996915.1	P14138	EDN3_HUMAN	endothelin 3	33					cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					CAGGCGCGGCGTGTCCCAGGC	0.652000													9	35					0.00829132	0.00867729	1	1	0
OR4D9	390199	broad.mit.edu	37	11	59283134	59283134	+	Missense_Mutation	SNP	A	A	G			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr11:59283134A>G	ENST00000329328.3	+	1	749	c.749A>G	c.(748-750)cAt>cGt	p.H250R		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						GTGACCCTGCATTTCGTGCCC	0.557000													61	145					0	0	1	0	0
FIP1L1	81608	broad.mit.edu	37	4	54257623	54257623	+	Silent	SNP	A	A	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr4:54257623A>T	ENST00000507166.1	+	9	663	c.663A>T	c.(661-663)acA>acT	p.T221T	FIP1L1_ENST00000306932.6_Intron|FIP1L1_ENST00000358575.5_Silent_p.T206T|FIP1L1_ENST00000337488.6_Silent_p.T221T|FIP1L1_ENST00000507922.1_Silent_p.T206T			Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	221	Necessary for stimulating PAPOLA activity.|Sufficient for interaction with CPSF4.				mRNA processing	nucleus	RNA binding			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TGGAAGTTACACCAGGTGCAG	0.348000			T	PDGFRA	idiopathic hypereosinophilic syndrome								24	35					0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99641339	99641339	+	Missense_Mutation	SNP	C	C	G			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr14:99641339C>G	ENST00000345514.2	-	3	1887	c.1621G>C	c.(1621-1623)Gag>Cag	p.E541Q	BCL11B_ENST00000443726.2_Missense_Mutation_p.E418Q|BCL11B_ENST00000357195.3_Missense_Mutation_p.E612Q	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	612	Glu-rich.					nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GCCAGGAGCTCGCCGTACTGC	0.756000			T	TLX3	T-ALL								14	20					0	0	1	0	0
LPCAT4	254531	broad.mit.edu	37	15	34656217	34656217	+	Missense_Mutation	SNP	G	G	C			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr15:34656217G>C	ENST00000314891.6	-	5	826	c.649C>G	c.(649-651)Cca>Gca	p.P217A		NM_153613.2	NP_705841.2	Q643R3	LPCT4_HUMAN	lysophosphatidylcholine acyltransferase 4	217					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|calcium ion binding			NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						TATTCACCTGGTTTGAACTTA	0.453000													23	138					0	0	1	0	0
TET3	200424	broad.mit.edu	37	2	74307623	74307623	+	Splice_Site	SNP	A	A	G			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr2:74307623A>G	ENST00000409262.3	+	3	2180		c.e3-1			NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3								metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTCCCTCTTCAGGTATGGAGA	0.527000													4	18					0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42048440	42048441	+	Frame_Shift_Ins	INS	-	-	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr1:42048440_42048441insA	ENST00000372584.1	-	3	3042_3043	c.2028_2029insT	c.(2026-2031)tccaggfs	p.R677fs	HIVEP3_ENST00000429157.2_Frame_Shift_Ins_p.R677fs|HIVEP3_ENST00000247584.5_Frame_Shift_Ins_p.R677fs|HIVEP3_ENST00000372583.1_Frame_Shift_Ins_p.R677fs	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	677	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TGGGTGCCTGCAGAGATGGGCT	0.475													41	95	---	---	---	---					
BCL11A	53335	broad.mit.edu	37	2	60688017	60688017	+	Frame_Shift_Del	DEL	C	C	-			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr2:60688017delC	ENST00000335712.6	-	4	2257	c.2030delG	c.(2029-2031)gafs	p.G677fs	BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000538214.1_Frame_Shift_Del_p.G643fs|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000537768.1_Frame_Shift_Del_p.G346fs|BCL11A_ENST00000358510.4_Frame_Shift_Del_p.G643fs|BCL11A_ENST00000356842.4_Frame_Shift_Del_p.G677fs	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	677					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TCTGGAGTCTCCGAAGCTAAG	0.647			T	IGH@	B-CLL								31	88	---	---	---	---					
ALMS1	7840	broad.mit.edu	37	2	73678467	73678468	+	Frame_Shift_Ins	INS	-	-	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr2:73678467_73678468insA	ENST00000264448.6	+	8	4921_4922	c.4810_4811insA	c.(4810-4812)aaafs	p.K1604fs	ALMS1_ENST00000409009.1_Frame_Shift_Ins_p.K1562fs|ALMS1_ENST00000377715.1_Frame_Shift_Ins_p.K1604fs	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1604	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TGGACCTACTGAAAAAAAGACT	0.455													18	142	---	---	---	---					
SDHAP1	255812	broad.mit.edu	37	3	195717077	195717078	+	RNA	INS	-	-	GCGCCAG	rs55821214		TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr3:195717077_195717078insGCGCCAG	ENST00000427841.1	-	0	72_73					NR_003264.2																						GGCCAGCGCCAGCGCCAGGCGC	0.782													2	4	---	---	---	---					
PIGZ	80235	broad.mit.edu	37	3	196674691	196674698	+	Frame_Shift_Del	DEL	GGCACCCA	GGCACCCA	-			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr3:196674691_196674698delGGCACCCA	ENST00000412723.1	-	3	1216_1223	c.1070_1077delTGGGTGCC	c.(1069-1077)cfs	p.LGA357fs		NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Z	357					GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		GCAGGCTCCGGGCACCCAGTGCCCTCAG	0.644													24	58	---	---	---	---					
CPZ	8532	broad.mit.edu	37	4	8602999	8602999	+	Frame_Shift_Del	DEL	G	G	-			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr4:8602999delG	ENST00000360986.4	+	3	445	c.271delG	c.(271-273)gcfs	p.G91fs	CPZ_ENST00000506287.1_3'UTR|CPZ_ENST00000315782.6_Frame_Shift_Del_p.G80fs|CPZ_ENST00000382480.2_5'UTR	NM_001014447.2	NP_001014447.1	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	91	FZ.				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GCTCCTGGAAGGCCAGTGCAA	0.677													7	42	---	---	---	---					
UBA6	55236	broad.mit.edu	37	4	68534392	68534392	+	Splice_Site	DEL	C	C	-	rs10010188	byFrequency	TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr4:68534392delC	ENST00000322244.4	-	9	729	c.669_splice	c.e9-1	p.A224_splice	UBA6_ENST00000420827.2_Splice_Site_p.A224_splice	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	224			A -> T (in dbSNP:rs10010188).		protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						CCAGGATTTGCCTAAAAATAA	0.299													11	25	---	---	---	---					
POU4F2	5458	broad.mit.edu	37	4	147560457	147560458	+	In_Frame_Ins	INS	-	-	GGC	rs67907220		TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr4:147560457_147560458insGGC	ENST00000281321.3	+	1	413_414	c.165_166insGGC	c.(163-168)gggcgg>ggGGCgcgg	p.55_56GR>GAR	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	55	Poly-Gly.				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					ACGCTggtggtggcggcggcgg	0.762													3	6	---	---	---	---					
RP11-43F13.1	0	broad.mit.edu	37	5	1632914	1632914	+	RNA	DEL	T	T	-			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr5:1632914delT	ENST00000507841.1	-	0	260																											CAGGGCAGGCTCACGGCTTCT	0.488													10	53	---	---	---	---					
CDH10	1008	broad.mit.edu	37	5	24487836	24487837	+	Frame_Shift_Ins	INS	-	-	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr5:24487836_24487837insT	ENST00000264463.4	-	12	2809_2810	c.2302_2303insA	c.(2302-2304)gggfs	p.G768fs	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	768					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CCGAGGGCCCCATTCTCGGAGG	0.406										HNSCC(23;0.051)			116	165	---	---	---	---					
TFAP2B	7021	broad.mit.edu	37	6	50805704	50805704	+	Frame_Shift_Del	DEL	G	G	-			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr6:50805704delG	ENST00000263046.4	+	6	1031	c.865delG	c.(865-867)ggfs	p.G290fs	TFAP2B_ENST00000393655.3_Frame_Shift_Del_p.G281fs			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	281					nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					ATCGAAAAATGGGGGGAGATC	0.438													38	141	---	---	---	---					
KIAA1244	57221	broad.mit.edu	37	6	138584447	138584447	+	Frame_Shift_Del	DEL	T	T	-			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr6:138584447delT	ENST00000251691.4	+	12	1993	c.1827delT	c.(1825-1827)gafs	p.D609fs		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	609	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CAGAGTTTGATTCCTGTGATC	0.483													47	251	---	---	---	---					
GPSM1	26086	broad.mit.edu	37	9	139235482	139235482	+	Frame_Shift_Del	DEL	C	C	-			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr9:139235482delC	ENST00000392945.3	+	9	1459	c.1239delC	c.(1237-1239)ctfs	p.L413fs	GPSM1_ENST00000440944.1_Intron	NM_015597.4	NP_056412.4	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1	0	Interaction with STK11/LKB1 (By similarity).|Mediates association with membranes (By similarity).				cell differentiation|nervous system development|signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane	binding|GTPase activator activity			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		GGGTCTTGCTCCCCACAGGCA	0.687													5	1	---	---	---	---					
OLFML1	283298	broad.mit.edu	37	11	7531163	7531163	+	Frame_Shift_Del	DEL	A	A	-			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr11:7531163delA	ENST00000329293.3	+	3	1347	c.953delA	c.(952-954)gafs	p.E318fs	OLFML1_ENST00000530135.1_Frame_Shift_Del_p.E318fs|CTD-2516F10.2_ENST00000530201.1_RNA|OLFML1_ENST00000528758.1_3'UTR	NM_198474.3	NP_940876.2	Q6UWY5	OLFL1_HUMAN	olfactomedin-like 1	318	Olfactomedin-like.					extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		CAGGATGCTGAAGCCTCATTC	0.557													21	105	---	---	---	---					
MTCH2	23788	broad.mit.edu	37	11	47653259	47653263	+	Splice_Site	DEL	GTTGT	GTTGT	-	rs139957971		TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr11:47653259_47653263delGTTGT	ENST00000302503.3	-	6	527_531	c.369_splice	c.e6-1	p.TT124_splice	MTCH2_ENST00000542981.1_Intron	NM_014342.3	NP_055157.1	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	124					transport	integral to membrane|mitochondrial inner membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						CATCTCTCGAGTTGTCTAGAAACAA	0.415													19	62	---	---	---	---					
GTSF1	121355	broad.mit.edu	37	12	54854184	54854184	+	Frame_Shift_Del	DEL	G	G	-			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr12:54854184delG	ENST00000552397.1	-	7	1360	c.464delC	c.(463-465)cgfs	p.P155fs	GTSF1_ENST00000552395.1_5'UTR|RP11-753H16.3_ENST00000550474.1_RNA|GTSF1_ENST00000305879.5_Frame_Shift_Del_p.P155fs|RP11-753H16.5_ENST00000552785.1_RNA			Q8WW33	GTSF1_HUMAN	gametocyte specific factor 1	155							metal ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(1001;0.00452)				CAGAACATACGGCAGAGATTT	0.388													17	48	---	---	---	---					
RP11-478C19.2	0	broad.mit.edu	37	12	110868215	110868216	+	RNA	DEL	GT	GT	-	rs113592903		TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr12:110868215_110868216delGT	ENST00000550231.1	-	0	97																											CAgtgtgtgcgtgtgtgtgtgt	0.490													3	6	---	---	---	---					
RP11-536C10.16	0	broad.mit.edu	37	14	19413404	19413404	+	RNA	DEL	G	G	-			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr14:19413404delG	ENST00000550928.1	+	0	225																											GATACCATCAGGGGTTGTTTT	0.507													17	110	---	---	---	---					
MTHFD1	4522	broad.mit.edu	37	14	64882111	64882115	+	Frame_Shift_Del	DEL	TACTG	TACTG	-			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr14:64882111_64882115delTACTG	ENST00000555709.1	+	5	663_667	c.276_280delTACTG	c.(274-282)tctafs	p.STV92fs	MTHFD1_ENST00000555252.1_Frame_Shift_Del_p.STV72fs|MTHFD1_ENST00000545908.1_Frame_Shift_Del_p.STV148fs|MTHFD1_ENST00000216605.7_Frame_Shift_Del_p.STV148fs	NM_005956.3	NP_005947.3	P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	92	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding	p.T93I(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	ATGAAGACTCTACTGTACATGGGTT	0.356													15	143	---	---	---	---					
LOC101927978	101927978	broad.mit.edu	37	16	72763868	72763869	+	RNA	INS	-	-	A			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr16:72763868_72763869insA	ENST00000563328.2	+	0	164																											CGGTCCAAAACAAAAAAAAAAA	0.436													3	4	---	---	---	---					
UPF3AP2	147150	broad.mit.edu	37	17	20279654	20279655	+	RNA	INS	-	-	T			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr17:20279654_20279655insT	ENST00000578315.1	-	0	51_52																											atctgtctctcttttttttttt	0.381													4	2	---	---	---	---					
MC5R	4161	broad.mit.edu	37	18	13826277	13826277	+	Frame_Shift_Del	DEL	G	G	-			TCGA-MN-A4N5-01A-11D-A24P-08	TCGA-MN-A4N5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5cba51-3286-4018-9609-36f4f5c4e078	70ab4388-7a72-4bcf-aafa-6ba9b3d42610	g.chr18:13826277delG	ENST00000324750.3	+	1	735	c.513delG	c.(511-513)acfs	p.T171fs		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	171					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						CTTTCTGCACGGGCTGCGGCA	0.567													143	468	---	---	---	---					
