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
DDX60	55601	broad.mit.edu	37	4	169201591	169201591	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:169201591C>A	ENST00000393743.3	-	14	2164	c.1873G>T	c.(1873-1875)Gat>Tat	p.D625Y		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	625							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TTCAAAAAATCTTCCAGGCTC	0.383000													5	34					0.0215528	0.0230314	1	1	0
VIL1	7429	broad.mit.edu	37	2	219294366	219294366	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:219294366C>T	ENST00000248444.5	+	8	905	c.817C>T	c.(817-819)Cgg>Tgg	p.R273W	VIL1_ENST00000440053.1_Missense_Mutation_p.R273W|VIL1_ENST00000392114.2_5'UTR	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	273	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGTCGCCACACGGCCACTGAC	0.602000													5	47					0	0	1	0	0
ZNF512B	57473	broad.mit.edu	37	20	62598849	62598849	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr20:62598849G>A	ENST00000450537.1	-	3	209	c.149C>T	c.(148-150)aCa>aTa	p.T50I	ZNF512B_ENST00000217130.3_Missense_Mutation_p.T50I|ZNF512B_ENST00000369888.1_Missense_Mutation_p.T50I			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	50					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GCCGGGCACTGTCTGTCCACC	0.637000													15	64					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179463526	179463526	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:179463526C>T	ENST00000589042.1	-	291	57135	c.56911G>A	c.(56911-56913)Gtg>Atg	p.V18971M	TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V17330M|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V9906M|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V10098M|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V16403M|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V10031M|TTN-AS1_ENST00000589234.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17330	Fibronectin type-III 37.						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)			GCTGGACCCACGCCAGCAGCA	0.428000													9	120					0	0	1	0	0
PSG7	5676	broad.mit.edu	37	19	43428834	43428834	+	RNA	SNP	A	A	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:43428834A>T	ENST00000406070.2	-	0	1482					NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				gacatcaggtacaaggatttt	0.423000													4	21					0	0	1	0	0
LBH	81606	broad.mit.edu	37	2	30480389	30480389	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:30480389G>A	ENST00000395323.3	+	3	428	c.220G>A	c.(220-222)Gag>Aag	p.E74K	LBH_ENST00000401506.1_Missense_Mutation_p.E80K|LBH_ENST00000467242.1_3'UTR|LBH_ENST00000404397.1_Intron|LBH_ENST00000406087.1_3'UTR|LBH_ENST00000407930.2_Missense_Mutation_p.E57K	NM_030915.3	NP_112177.2	Q53QV2	LBH_HUMAN	limb bud and heart development	74					multicellular organismal development|transcription, DNA-dependent	cytoplasm|nucleolus				endometrium(2)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(172;0.155)					AGGGGAGGTGGAGAGCGGGGA	0.547000													8	38					0	0	1	0	0
SMARCB1	6598	broad.mit.edu	37	22	24145545	24145545	+	Silent	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr22:24145545C>T	ENST00000344921.6	+	5	798	c.591C>T	c.(589-591)ccC>ccT	p.P197P	SMARCB1_ENST00000407422.3_Silent_p.P179P|SMARCB1_ENST00000263121.7_Silent_p.P188P|SMARCB1_ENST00000407082.3_Silent_p.P142P			Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	188	2 X approximate tandem repeats.|HIV-1 integrase-binding.|MYC-binding.				cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	p.?(6)|p.I189fs*25(1)|p.P188fs*24(1)|p.V185_M193del(1)|p.I189fs*24(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				TGCTGGTCCCCATCCGGCTGG	0.587000			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid							6	73					0	0	1	0	0
GPR171	29909	broad.mit.edu	37	3	150916865	150916865	+	Silent	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:150916865G>T	ENST00000309180.5	-	3	539	c.309C>A	c.(307-309)atC>atA	p.I103I	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	G protein-coupled receptor 171	103						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATGCTAAGAAGATAATTGATA	0.418000													7	78					0.00198382	0.00230193	1	1	0
C12orf77	196415	broad.mit.edu	37	12	25148769	25148769	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:25148769A>G	ENST00000549828.1	-	3	583	c.379T>C	c.(379-381)Tgg>Cgg	p.W127R	C12orf77_ENST00000549262.1_Missense_Mutation_p.W72R|C12orf77_ENST00000434912.3_Missense_Mutation_p.W72R	NM_001101339.1	NP_001094809.1	C9JDV5	CL097_HUMAN	chromosome 12 open reading frame 77	127										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						AGGAATCTCCATCTTGGGTTT	0.413000													5	39					0	0	1	0	0
SULT1B1	27284	broad.mit.edu	37	4	70620441	70620441	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:70620441A>T	ENST00000310613.2	-	3	521	c.224T>A	c.(223-225)aTt>aAt	p.I75N		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	75					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						TTTTTCAGTAATAAAACCTCG	0.308000													8	56					0	0	1	0	0
GRK7	131890	broad.mit.edu	37	3	141497567	141497567	+	Silent	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:141497567G>A	ENST00000264952.2	+	1	578	c.441G>A	c.(439-441)gtG>gtA	p.V147V		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	147	RGS.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						TGGCTGCAGTGACGCTGGCCA	0.607000													4	62					0	0	1	0	0
MYO1G	64005	broad.mit.edu	37	7	45014784	45014784	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:45014784C>G	ENST00000258787.7	-	5	743	c.607G>C	c.(607-609)Gcc>Ccc	p.A203P		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	203	Myosin head-like.					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						TGGTAGAAGGCGTGGAAGTTT	0.592000													15	131					0	0	1	0	0
OR52N5	390075	broad.mit.edu	37	11	5799487	5799487	+	Silent	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:5799487G>A	ENST00000317093.2	-	1	410	c.378C>T	c.(376-378)ctC>ctT	p.L126L	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		CTAGAGCCATGAGCATGAGCA	0.488000													10	23					0	0	1	0	0
ZC3H13	23091	broad.mit.edu	37	13	46562943	46562943	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr13:46562943G>A	ENST00000242848.4	-	9	1582	c.1234C>T	c.(1234-1236)Cga>Tga	p.R412*	ZC3H13_ENST00000282007.3_Nonsense_Mutation_p.R412*			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	412	Arg/Ser-rich.						nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TCATGGCGTCGATCATGAGAC	0.423000													4	27					0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21156362	21156362	+	Silent	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr22:21156362G>A	ENST00000255882.6	-	14	1709	c.1623C>T	c.(1621-1623)acC>acT	p.T541T	PI4KA_ENST00000572273.1_Silent_p.T483T	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	483					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			AATGCTCATTGGTCACACTGA	0.418000													5	36					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165997189	165997189	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:165997189G>T	ENST00000360093.3	-	13	2482	c.1991C>A	c.(1990-1992)aCg>aAg	p.T664K	SCN3A_ENST00000409101.3_Intron|SCN3A_ENST00000283254.7_Missense_Mutation_p.T664K	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	664						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	AGTAGGTGACGTTAGAGCTGA	0.478000													6	35					0.0293803	0.0312145	1	1	0
YOD1	55432	broad.mit.edu	37	1	207222688	207222688	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:207222688G>C	ENST00000367084.1	-	4	796	c.592C>G	c.(592-594)Cag>Gag	p.Q198E	YOD1_ENST00000315927.4_Missense_Mutation_p.Q242E|YOD1_ENST00000391927.1_Missense_Mutation_p.Q198E	NM_001276320.1	NP_001263249.1	Q5VVQ6	OTU1_HUMAN	YOD1 deubiquitinase	242	OTU.				cellular amino acid metabolic process|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination	intracellular	protein binding|ubiquitin-specific protease activity|zinc ion binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(3)	11	Prostate(682;0.19)					CTTACTGTCTGTGTATCCACT	0.403000													16	127					0	0	1	0	0
RECQL4	9401	broad.mit.edu	37	8	145742149	145742149	+	Splice_Site	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:145742149C>G	ENST00000428558.2	-	5	396		c.e5-1		RECQL4_ENST00000532237.1_Splice_Site	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4						DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CTGGTCCGGCCTGGGAGGGGA	0.602000			"""N, F, S"""			"""osteosarcoma, skin basal and sqamous cell"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				7	18					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70049224	70049224	+	Splice_Site	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:70049224G>T	ENST00000370598.1	+	26	4108		c.e26-1		BAI3_ENST00000238918.8_Splice_Site|BAI3_ENST00000546190.1_Splice_Site	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3						negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GGTCTCAACAGGGCGTCTCTT	0.478000													9	92					2.17888e-05	2.95337e-05	1	1	0
RP1	6101	broad.mit.edu	37	8	55539512	55539512	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:55539512T>A	ENST00000220676.1	+	4	3218	c.3070T>A	c.(3070-3072)Tgt>Agt	p.C1024S		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1024					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GCATGAACACTGTACTTTGTC	0.368000													23	169					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6125388	6125388	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:6125388C>A	ENST00000261405.5	-	31	5576	c.5322G>T	c.(5320-5322)ttG>ttT	p.L1774F		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	1774	VWFA 3; main binding site for collagens type I and III.				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)	CAGCAAAGCCCAAGGCATCCC	0.542000													5	25					0.014758	0.0159185	1	1	0
PABPC3	5042	broad.mit.edu	37	13	25670479	25670479	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr13:25670479C>G	ENST00000281589.3	+	1	180	c.143C>G	c.(142-144)aCc>aGc	p.T48S		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	48	RRM 1.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		GACTTGATCACCAGCGGCTCC	0.572000													5	49					0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56423073	56423073	+	Splice_Site	SNP	C	C	A	rs151042282		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:56423073C>A	ENST00000588751.1	-	5	2134	c.2111_splice	c.e5+1	p.E704_splice	NLRP13_ENST00000342929.3_Splice_Site_p.E704_splice			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	704							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		AATACTCACTCCAGAATTTCC	0.393000													11	66					9.31168e-06	1.29658e-05	1	1	0
ARHGAP17	55114	broad.mit.edu	37	16	24942604	24942604	+	Silent	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr16:24942604G>T	ENST00000289968.6	-	19	2085	c.2016C>A	c.(2014-2016)acC>acA	p.T672T	ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Silent_p.T594T	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	672	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		AGGGGCTTCGGGTGGGTGGCT	0.677000													11	67					9.70103e-10	1.58072e-09	1	1	0
MEFV	4210	broad.mit.edu	37	16	3304456	3304456	+	Silent	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr16:3304456G>T	ENST00000219596.1	-	2	651	c.612C>A	c.(610-612)cgC>cgA	p.R204R	MEFV_ENST00000536379.1_Intron|MEFV_ENST00000339854.4_Intron|MEFV_ENST00000541159.1_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	204					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			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)	TGGCGTTTCTGCGCAGCCGGA	0.761000													4	19					0.00909568	0.00998677	1	1	0
GDF6	392255	broad.mit.edu	37	8	97172817	97172817	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:97172817G>A	ENST00000287020.5	-	1	203	c.104C>T	c.(103-105)gCc>gTc	p.A35V		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	35					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					ACCCAGCTCGGCGGACGACGA	0.642000													5	66					0	0	1	0	0
LDB3	11155	broad.mit.edu	37	10	88477873	88477873	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:88477873G>T	ENST00000429277.2	+	11	1989	c.1844G>T	c.(1843-1845)tGt>tTt	p.C615F	LDB3_ENST00000263066.6_Missense_Mutation_p.C500F|LDB3_ENST00000361373.4_Missense_Mutation_p.C610F|LDB3_ENST00000352360.5_Missense_Mutation_p.C353F|LDB3_ENST00000458213.2_Missense_Mutation_p.C500F	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN	LIM domain binding 3	610	LIM zinc-binding 2.					cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						GCCCCGCTGTGTGCCAAGTGC	0.522000													8	54					5.18039e-06	7.33556e-06	1	1	0
XIRP1	165904	broad.mit.edu	37	3	39226294	39226294	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:39226294A>T	ENST00000340369.3	-	2	4871	c.4643T>A	c.(4642-4644)cTg>cAg	p.L1548Q	XIRP1_ENST00000421646.1_Missense_Mutation_p.L231Q|XIRP1_ENST00000396251.1_3'UTR	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1548							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TTCAATGTCCAGCAGCCTTGC	0.587000													9	54					0	0	1	0	0
PABPC5	140886	broad.mit.edu	37	X	90691045	90691045	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:90691045G>T	ENST00000312600.3	+	2	683	c.469G>T	c.(469-471)Gct>Tct	p.A157S	PABPC5_ENST00000373105.1_5'UTR	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	157	RRM 2.					cytoplasm	nucleotide binding|RNA binding	p.A157T(1)		central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						CAGCCTGGCCGCTGCCAATAG	0.502000													4	25					0.00024832	0.000309642	1	1	0
DSTYK	25778	broad.mit.edu	37	1	205119875	205119875	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:205119875C>A	ENST00000367162.3	-	11	2430	c.2400G>T	c.(2398-2400)aaG>aaT	p.K800N	DSTYK_ENST00000367160.4_Missense_Mutation_p.K459N|DSTYK_ENST00000367161.3_Missense_Mutation_p.K800N	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	800	Protein kinase.					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						TGGCCTCTGGCTTGCAGAATC	0.542000													5	38					0.000602214	0.000725341	1	1	0
EXOC3	11336	broad.mit.edu	37	5	446357	446357	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:446357G>T	ENST00000512944.1	+	2	226	c.37G>T	c.(37-39)Gtg>Ttg	p.V13L	EXOC3_ENST00000510441.1_3'UTR|EXOC3_ENST00000315013.5_Missense_Mutation_p.V13L	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	24					exocytosis|protein transport					breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TGCGACAGCAGTGCAAAGGGT	0.597000													4	45					0.00909568	0.00998677	1	1	0
UNC5C	8633	broad.mit.edu	37	4	96106222	96106222	+	Silent	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:96106222C>T	ENST00000453304.1	-	13	2610	c.2262G>A	c.(2260-2262)aaG>aaA	p.K754K		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	754					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GCAATTTGCTCTTCCAGAGGG	0.448000													9	75					0	0	1	0	0
RGS3	5998	broad.mit.edu	37	9	116356334	116356334	+	Silent	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:116356334G>C	ENST00000462403.1	+	1	569	c.135G>C	c.(133-135)ccG>ccC	p.P45P	RGS3_ENST00000462143.1_Intron|RGS3_ENST00000343817.5_Intron|RGS3_ENST00000374134.3_Intron|RGS3_ENST00000350696.5_Intron|RGS3_ENST00000394646.3_Intron|RGS3_ENST00000374140.2_Intron|RGS3_ENST00000342620.5_Intron	NM_144489.2	NP_652760.2	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	208					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TTTTTTTTCCGCTCCCCCTCC	0.622000													24	127					0	0	1	0	0
ZMYND8	23613	broad.mit.edu	37	20	45927650	45927650	+	Silent	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr20:45927650T>C	ENST00000311275.7	-	4	469	c.216A>G	c.(214-216)ccA>ccG	p.P72P	ZMYND8_ENST00000458360.2_Intron|ZMYND8_ENST00000372023.3_Intron|ZMYND8_ENST00000461685.1_Silent_p.P92P|ZMYND8_ENST00000468376.2_Intron|ZMYND8_ENST00000355972.4_Silent_p.P72P|ZMYND8_ENST00000360911.3_Intron|ZMYND8_ENST00000262975.4_Silent_p.P72P|ZMYND8_ENST00000536340.1_Silent_p.P99P|ZMYND8_ENST00000471951.2_Silent_p.P92P|ZMYND8_ENST00000352431.2_Silent_p.P92P|ZMYND8_ENST00000396281.4_Intron|ZMYND8_ENST00000540497.1_Intron|ZMYND8_ENST00000446994.2_Intron			Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	72							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			CTGTGGTGAGTGGCTGCTTCA	0.453000													5	43					0	0	1	0	0
OR2G3	81469	broad.mit.edu	37	1	247769226	247769226	+	Silent	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:247769226C>T	ENST00000320002.2	+	1	371	c.339C>T	c.(337-339)atC>atT	p.I113I	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	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)			CTGAATGTATCCTCTTGGCTG	0.488000													28	127					0	0	1	0	0
TRIM10	10107	broad.mit.edu	37	6	30121897	30121897	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:30121897C>T	ENST00000449742.2	-	7	1370	c.1295G>A	c.(1294-1296)aGg>aAg	p.R432K	TRIM10_ENST00000376704.3_Intron	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	432	B30.2/SPRY.					cytoplasm	zinc ion binding			ovary(1)	1						AAGAGACACCCTCACCTGCCG	0.622000													3	26					0	0	1	0	0
OR4M1	441670	broad.mit.edu	37	14	20249052	20249052	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr14:20249052A>G	ENST00000315957.4	+	1	652	c.571A>G	c.(571-573)Aac>Gac	p.N191D		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	191					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGCCTGTGCCAACACCTTCCC	0.473000													22	200					0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138450881	138450881	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:138450881C>T	ENST00000344876.4	-	1	2748	c.2362G>A	c.(2362-2364)Ggg>Agg	p.G788R	PCDH18_ENST00000510305.1_5'UTR|PCDH18_ENST00000412923.2_Missense_Mutation_p.G788R|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.G568R	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	788					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)					CCCATCTGCCCTCTTTCTAAG	0.478000													10	45					0	0	1	0	0
PODN	127435	broad.mit.edu	37	1	53544425	53544425	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:53544425C>A	ENST00000371500.3	+	10	1671	c.1330C>A	c.(1330-1332)Cgc>Agc	p.R444S	PODN_ENST00000312553.5_Missense_Mutation_p.R463S|PODN_ENST00000395871.2_Missense_Mutation_p.R321S|RP11-334A14.5_ENST00000447867.1_RNA	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN	podocan	415			T -> M (in dbSNP:rs12567021).		negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CAGCTACAACCGCATCACCAG	0.647000													7	70					0.0293803	0.0312145	1	1	0
PCDHGB6	56100	broad.mit.edu	37	5	140788984	140788984	+	Silent	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:140788984G>T	ENST00000520790.1	+	1	1215	c.1215G>T	c.(1213-1215)gtG>gtT	p.V405V	PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1														breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAAACTGGTGACAGATGGAG	0.458000													12	44					2.80697e-09	4.52563e-09	1	1	0
DSEL	92126	broad.mit.edu	37	18	65178592	65178592	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr18:65178592C>T	ENST00000310045.7	-	2	4757	c.3284G>A	c.(3283-3285)aGg>aAg	p.R1095K	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1085						integral to membrane	isomerase activity|sulfotransferase activity	p.R1095K(1)		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)				TAATTCTTTCCTCAATGGTTC	0.368000													4	38					0	0	1	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	73933816	73933816	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:73933816G>A	ENST00000476977.1	+	6	2374	c.683G>A	c.(682-684)cGg>cAg	p.R228Q	GTF2IRD1_ENST00000265755.3_Missense_Mutation_p.R228Q|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.R260Q|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.R228Q			Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	228						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AAGGGGTCACGGGACTGTGGC	0.657000													6	74					0	0	1	0	0
IL22	50616	broad.mit.edu	37	12	68647178	68647178	+	Silent	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:68647178G>T	ENST00000538666.1	-	2	121	c.51C>A	c.(49-51)gcC>gcA	p.A17A	IL22_ENST00000328087.4_Silent_p.A17A			Q9GZX6	IL22_HUMAN	interleukin 22	17					acute-phase response	extracellular space	cytokine activity|interleukin-22 receptor binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	14		Myeloproliferative disorder(1001;0.0255)	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104)		GGCAGCTGGTGGCCAGGGTCC	0.582000													4	38					0.00909568	0.00998677	1	1	0
ZNF615	284370	broad.mit.edu	37	19	52497498	52497498	+	Silent	SNP	T	T	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:52497498T>A	ENST00000602063.1	-	6	1180	c.831A>T	c.(829-831)atA>atT	p.I277I	ZNF615_ENST00000594083.1_Silent_p.I288I|ZNF615_ENST00000391795.3_Silent_p.I282I|ZNF615_ENST00000376716.5_Silent_p.I277I|ZNF615_ENST00000598071.1_Silent_p.I288I			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	277					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TTTTCTGATGTATATTGAGCT	0.393000													8	118					0	0	1	0	0
CASS4	57091	broad.mit.edu	37	20	55012464	55012464	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr20:55012464C>A	ENST00000371336.3	+	2	482	c.281C>A	c.(280-282)tCa>tAa	p.S94*	CASS4_ENST00000434344.1_Nonsense_Mutation_p.S94*|CASS4_ENST00000360314.3_Nonsense_Mutation_p.S94*	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	94					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						CCTGCCAGCTCAGAGGAGACC	0.662000													5	55					0.000602214	0.000725341	1	1	0
TMEM71	137835	broad.mit.edu	37	8	133759256	133759256	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:133759256G>C	ENST00000356838.3	-	5	504	c.362C>G	c.(361-363)tCt>tGt	p.S121C	TMEM71_ENST00000523829.1_Missense_Mutation_p.S140C|TMEM71_ENST00000377901.4_Missense_Mutation_p.S140C	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	transmembrane protein 71	140						integral to membrane				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			ACTTGGAGAAGAGTTGATGTC	0.423000													6	35					0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156915444	156915444	+	Silent	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:156915444G>T	ENST00000257527.4	-	21	2457	c.2379C>A	c.(2377-2379)ccC>ccA	p.P793P	ADAM19_ENST00000394020.1_Silent_p.P795P|ADAM19_ENST00000517905.1_Silent_p.P793P|ADAM19_ENST00000430702.2_Silent_p.P526P	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	793					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	p.P793P(1)|p.P794P(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AATCTGGAGGGGGCCGGGGAG	0.602000													5	37					0.000602214	0.000725341	1	1	0
FAT3	120114	broad.mit.edu	37	11	92533210	92533210	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:92533210G>T	ENST00000298047.6	+	9	7048	c.7031G>T	c.(7030-7032)gGc>gTc	p.G2344V	FAT3_ENST00000409404.2_Missense_Mutation_p.G2344V|FAT3_ENST00000525166.1_Missense_Mutation_p.G2194V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2344	Cadherin 21.				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)				AGCTCAAGTGGCTTAATCCTG	0.398000										TCGA Ovarian(4;0.039)			18	46					5.01169e-05	6.59849e-05	1	1	0
TLL1	7092	broad.mit.edu	37	4	166795134	166795134	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:166795134G>C	ENST00000061240.2	+	1	725	c.78G>C	c.(76-78)tgG>tgC	p.W26C	TLL1_ENST00000507499.1_Missense_Mutation_p.W26C|TLL1_ENST00000513213.1_Missense_Mutation_p.W26C	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	26					cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GGGAGCTATGGGTCTGCGCTG	0.537000													13	93					0	0	1	0	0
AGT	183	broad.mit.edu	37	1	230846521	230846521	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:230846521C>A	ENST00000366667.4	-	2	290	c.76G>T	c.(76-78)Gcc>Tcc	p.A26S	RP11-99J16__A.2_ENST00000412344.1_RNA	NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	26					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	CCAGCCCAGGCCAGGAGGCAG	0.592000													7	46					8.12818e-05	0.000104036	1	1	0
PAPSS1	9061	broad.mit.edu	37	4	108608319	108608319	+	Silent	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:108608319T>C	ENST00000265174.4	-	4	698	c.426A>G	c.(424-426)gcA>gcG	p.A142A	PAPSS1_ENST00000511304.1_5'UTR	NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	142					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		GAATTTGCCTTGCATTGTTGC	0.323000													5	40					0	0	1	0	0
SRP54-AS1	100506157	broad.mit.edu	37	14	35409183	35409183	+	RNA	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr14:35409183G>C	ENST00000556355.1	-	0	257				RP11-85K15.2_ENST00000555015.1_RNA																							CTGAGAGAAAGAGACTCTTCA	0.438000													5	28					0	0	1	0	0
ARL5B	221079	broad.mit.edu	37	10	18955536	18955536	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:18955536G>T	ENST00000377275.3	+	2	312	c.79G>T	c.(79-81)Gca>Tca	p.A27S		NM_178815.3	NP_848930.1	Q96KC2	ARL5B_HUMAN	ADP-ribosylation factor-like 5B	27					small GTPase mediated signal transduction	intracellular	GTP binding			lung(1)|ovary(1)	2						ACTGGATAATGCAGGGAAAAC	0.303000													4	44					0.014758	0.0159185	1	1	0
TNS4	84951	broad.mit.edu	37	17	38652502	38652502	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:38652502C>A	ENST00000254051.6	-	2	334	c.176G>T	c.(175-177)tGc>tTc	p.C59F		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	59					apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GGGCCCCATGCAGGGCACGGG	0.692000													9	68					0.000274275	0.00034016	1	1	0
LST3	0	broad.mit.edu	37	12	21242848	21242848	+	Silent	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:21242848C>T	ENST00000540229.1	+	16	2120	c.2055C>T	c.(2053-2055)gcC>gcT	p.A685A	LST3_ENST00000381541.3_Silent_p.A624A|SLCO1B3_ENST00000553473.1_Silent_p.A685A|RP11-125O5.2_ENST00000590779.1_Intron|SLCO1B7_ENST00000421593.2_Silent_p.A577A|SLCO1B7_ENST00000554957.1_Silent_p.A624A																							ACAGAAGAGCCTTCTTCGGCT	0.299000													3	25					0	0	1	0	0
HNRNPH1	3187	broad.mit.edu	37	5	179048345	179048345	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:179048345C>A	ENST00000356731.5	-	2	1686	c.151G>T	c.(151-153)Ggc>Tgc	p.G51C	HNRNPH1_ENST00000442819.2_Missense_Mutation_p.G51C|HNRNPH1_ENST00000393432.4_Missense_Mutation_p.G51C|HNRNPH1_ENST00000329433.6_Missense_Mutation_p.G51C|HNRNPH1_ENST00000524180.1_5'UTR|HNRNPH1_ENST00000510411.1_Missense_Mutation_p.G51C			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	51	RRM 1.				regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						CTTGGTCTGCCTTCTCTGGTG	0.393000													9	59					1.12685e-05	1.55492e-05	1	1	0
PCDH17	27253	broad.mit.edu	37	13	58206756	58206756	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr13:58206756C>A	ENST00000377918.3	+	1	102	c.76C>A	c.(76-78)Ccg>Acg	p.P26T		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	26	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CTACTCCGTGCCGGAGGAGCA	0.642000													3	21					0.115264	0.120372	1	1	0
SCN11A	11280	broad.mit.edu	37	3	38888794	38888794	+	Silent	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:38888794G>T	ENST00000302328.3	-	26	4965	c.4767C>A	c.(4765-4767)atC>atA	p.I1589I	SCN11A_ENST00000450244.1_Silent_p.I1589I|SCN11A_ENST00000456224.3_Silent_p.I1551I	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1589					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GAAAGGAGATGATAATGTAAC	0.433000													14	47					9.31168e-06	1.29658e-05	1	1	0
TYK2	7297	broad.mit.edu	37	19	10464866	10464866	+	Silent	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:10464866G>A	ENST00000525621.1	-	20	3241	c.2760C>T	c.(2758-2760)aaC>aaT	p.N920N	TYK2_ENST00000524462.1_Silent_p.N735N|TYK2_ENST00000264818.6_Silent_p.N920N	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	920	Protein kinase 2.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CAGTGCCGTCGTTGGTCGGAT	0.647000													8	40					0	0	1	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156634659	156634659	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:156634659C>G	ENST00000296518.7	+	7	1705	c.1496C>G	c.(1495-1497)cCg>cGg	p.P499R	GUCY1A3_ENST00000506455.1_Missense_Mutation_p.P499R|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.P499R|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.P499R|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.P241R|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.P499R|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.P499R			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	499	Guanylate cyclase.				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		CAGTGCTCACCGCTGCAGGTC	0.522000													7	24					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32968936	32968936	+	Missense_Mutation	SNP	A	A	G	rs80359208		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr13:32968936A>G	ENST00000544455.1	+	25	9594	c.9367A>G	c.(9367-9369)Agc>Ggc	p.S3123G	BRCA2_ENST00000380152.3_Missense_Mutation_p.S3123G	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	3123					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AATTGCTGCAAGCAACCTCCA	0.388000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			6	35					0	0	1	0	0
MCF2	4168	broad.mit.edu	37	X	138667263	138667263	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:138667263T>C	ENST00000520602.1	-	27	3172	c.2887A>G	c.(2887-2889)Act>Gct	p.T963A	MCF2_ENST00000370576.4_Missense_Mutation_p.T903A|MCF2_ENST00000519895.1_Missense_Mutation_p.T979A|MCF2_ENST00000338585.6_Missense_Mutation_p.T919A|MCF2_ENST00000370573.4_Intron|MCF2_ENST00000370578.4_Missense_Mutation_p.T1048A|MCF2_ENST00000536274.1_Intron|MCF2_ENST00000414978.1_Missense_Mutation_p.T963A			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	903					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TCATCATAAGTAGGGTAGAAA	0.358000													12	51					0	0	1	0	0
SLC17A3	10786	broad.mit.edu	37	6	25862543	25862543	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:25862543G>T	ENST00000397060.4	-	3	330	c.221C>A	c.(220-222)tCc>tAc	p.S74Y	SLC17A3_ENST00000361703.6_Missense_Mutation_p.S74Y|SLC17A3_ENST00000360657.3_Missense_Mutation_p.S74Y	NM_001098486.1	NP_001091956.1	O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	74					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						ATTGAGCTGGGATTGAGGGCT	0.448000													6	49					0.217242	0.220847	1	1	0
TRAM1L1	133022	broad.mit.edu	37	4	118005950	118005950	+	Silent	SNP	A	A	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:118005950A>T	ENST00000310754.4	-	1	786	c.600T>A	c.(598-600)atT>atA	p.I200I		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	200	TLC.				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						GGTGAAGACCAATGTAGACAA	0.383000													14	66					0	0	1	0	0
ADARB2	105	broad.mit.edu	37	10	1230936	1230936	+	Silent	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:1230936G>C	ENST00000381312.1	-	9	2233	c.1908C>G	c.(1906-1908)ccC>ccG	p.P636P	ADARB2_ENST00000381305.1_Silent_p.P38P|ADARB2_ENST00000381310.3_Silent_p.P145P	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	636	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		TCATGCTGAAGGGGGGCGACT	0.677000													5	21					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113170823	113170823	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:113170823G>A	ENST00000401783.2	-	38	7393	c.7057C>T	c.(7057-7059)Cat>Tat	p.H2353Y	SVEP1_ENST00000374469.1_Missense_Mutation_p.H2330Y|SVEP1_ENST00000297826.5_Missense_Mutation_p.H279Y	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2353	Sushi 16.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TGCAGGACATGCCCTTCTTTA	0.512000													8	32					0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176637201	176637201	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:176637201A>T	ENST00000439151.2	+	5	1846	c.1801A>T	c.(1801-1803)Aag>Tag	p.K601*	NSD1_ENST00000361032.4_Nonsense_Mutation_p.K498*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.K332*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.K332*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	601					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	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)|Epithelial(233;0.198)	Kidney(146;0.235)		TTTGATCTCAAAGTGTTCTCG	0.423000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			9	43					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77763359	77763359	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:77763359A>T	ENST00000521891.2	+	10	4650	c.4202A>T	c.(4201-4203)cAt>cTt	p.H1401L	ZFHX4_ENST00000455469.2_Missense_Mutation_p.H1356L|ZFHX4_ENST00000518282.1_Missense_Mutation_p.H1375L|ZFHX4_ENST00000050961.6_Missense_Mutation_p.H1356L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1356						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CGCTGTAACCATTGTAGCTTG	0.448000										HNSCC(33;0.089)			6	30					0	0	1	0	0
MAMDC2	256691	broad.mit.edu	37	9	72758537	72758537	+	Silent	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:72758537C>A	ENST00000377182.4	+	9	1823	c.1206C>A	c.(1204-1206)ccC>ccA	p.P402P	MAMDC2-AS1_ENST00000591368.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	402	MAM 3.					endoplasmic reticulum|membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						TCTATGGGCCCTCCCTACCAG	0.423000													24	55					2.32416e-17	3.94806e-17	1	1	0
PDZRN4	29951	broad.mit.edu	37	12	41966950	41966950	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:41966950C>A	ENST00000298919.7	+	10	1977	c.1589C>A	c.(1588-1590)tCg>tAg	p.S530*	PDZRN4_ENST00000539469.2_Nonsense_Mutation_p.S532*|PDZRN4_ENST00000402685.2_Nonsense_Mutation_p.S790*			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	790							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				AGTAAAGAGTCGACCTCCACC	0.502000													13	102					5.50884e-06	7.75287e-06	1	1	0
SCAF4	57466	broad.mit.edu	37	21	33057369	33057369	+	Silent	SNP	T	T	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr21:33057369T>A	ENST00000286835.7	-	19	2863	c.2481A>T	c.(2479-2481)tcA>tcT	p.S827S	SCAF4_ENST00000434667.3_Silent_p.S812S|SCAF4_ENST00000399804.1_Silent_p.S805S	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	827						nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TACCAAGAAGTGAAACAGGCT	0.498000													4	32					0	0	1	0	0
SRPK2	6733	broad.mit.edu	37	7	104783612	104783612	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:104783612C>A	ENST00000357311.3	-	9	1117	c.946G>T	c.(946-948)Gat>Tat	p.D316Y	SRPK2_ENST00000489828.1_Missense_Mutation_p.D316Y|SRPK2_ENST00000393651.3_Missense_Mutation_p.D327Y	NM_001278273.1|NM_182691.1	NP_001265202.1|NP_872633.1	P78362	SRPK2_HUMAN	SRSF protein kinase 2	316	Protein kinase.				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						TATTCGCCATCCTGGTCATTG	0.493000													6	80					8.12818e-05	0.000104036	1	1	0
MAML1	9794	broad.mit.edu	37	5	179193027	179193027	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:179193027C>A	ENST00000292599.3	+	2	1279	c.1016C>A	c.(1015-1017)cCc>cAc	p.P339H	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	mastermind-like 1 (Drosophila)	339					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACAGATTCCCCCAGCCTAGGG	0.612000													4	16					0.00024832	0.000309642	1	1	0
KIAA0100	9703	broad.mit.edu	37	17	26961885	26961885	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:26961885C>A	ENST00000528896.2	-	16	2794	c.2720G>T	c.(2719-2721)aGa>aTa	p.R907I	KIAA0100_ENST00000389003.3_Missense_Mutation_p.R764I|RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000544884.1_Missense_Mutation_p.R764I	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	907						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TAGCTGTAGTCTTTTGGCACT	0.478000													17	191					8.60227e-14	1.44789e-13	1	1	0
SLC45A2	51151	broad.mit.edu	37	5	33984733	33984733	+	Translation_Start_Site	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:33984733G>A	ENST00000382102.3	-	0	13				SLC45A2_ENST00000509381.1_De_novo_Start_OutOfFrame|SLC45A2_ENST00000342059.3_De_novo_Start_OutOfFrame|SLC45A2_ENST00000296589.4_De_novo_Start_OutOfFrame|SLC45A2_ENST00000345083.5_De_novo_Start_OutOfFrame	NM_001012509.2	NP_001012527.1	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2						melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						CACCTCCTGCGTGGTCCTAGG	0.577000													5	42					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126336532	126336532	+	Silent	SNP	A	A	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:126336532A>T	ENST00000394329.3	+	5	6427	c.6414A>T	c.(6412-6414)acA>acT	p.T2138T	FAT4_ENST00000335110.5_Silent_p.T436T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2138	Cadherin 20.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTTCATCTACAGAGGTTGTAG	0.398000													16	76					0	0	1	0	0
A4GNT	51146	broad.mit.edu	37	3	137849968	137849968	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:137849968G>C	ENST00000236709.3	-	2	332	c.131C>G	c.(130-132)gCc>gGc	p.A44G		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	44					protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						GCTCAGGAGGGCTTCCAGCCC	0.542000													7	80					0	0	1	0	0
AADACL4	343066	broad.mit.edu	37	1	12726225	12726225	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:12726225T>G	ENST00000376221.1	+	4	703	c.703T>G	c.(703-705)Ttt>Gtt	p.F235V		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	235						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		GTTGCCATCCTTTCAGCAGAA	0.512000													10	92					0	0	1	0	0
MARC1	64757	broad.mit.edu	37	1	220978449	220978449	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:220978449G>T	ENST00000366910.5	+	5	995	c.809G>T	c.(808-810)tGt>tTt	p.C270F	MARC1_ENST00000496110.1_3'UTR	NM_022746.3	NP_073583.3	Q5VT66	MOSC1_HUMAN	mitochondrial amidoxime reducing component 1	270	MOSC.						molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding										GTGATGGCTTGTTCCAGGTAA	0.527000													11	68					3.86212e-05	5.09224e-05	1	1	0
SCN2A	6326	broad.mit.edu	37	2	166245398	166245398	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:166245398G>T	ENST00000375437.2	+	27	5372	c.5082G>T	c.(5080-5082)atG>atT	p.M1694I	SCN2A_ENST00000375427.2_Missense_Mutation_p.M1694I|SCN2A_ENST00000283256.6_Missense_Mutation_p.M1694I|SCN2A_ENST00000357398.3_Missense_Mutation_p.M1694I	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1694					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TCGATGACATGTTCAACTTTG	0.448000													23	142					1.9806e-07	3.03362e-07	1	1	0
CTTNBP2	83992	broad.mit.edu	37	7	117359589	117359589	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:117359589C>A	ENST00000160373.3	-	21	4704	c.4613G>T	c.(4612-4614)tGc>tTc	p.C1538F		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1538										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CTTGCTGGAGCACATGCTCTG	0.468000													6	49					0.0215528	0.0230314	1	1	0
PROKR1	10887	broad.mit.edu	37	2	68873003	68873003	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:68873003C>A	ENST00000303786.3	+	2	470	c.50C>A	c.(49-51)aCc>aAc	p.T17N	PROKR1_ENST00000394342.2_Missense_Mutation_p.T17N			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	17						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						AACACTTCCACCAGCTTCCTT	0.522000													8	92					1.12685e-05	1.55492e-05	1	1	0
OR8B2	26595	broad.mit.edu	37	11	124252580	124252580	+	Silent	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:124252580G>A	ENST00000375013.2	-	1	678	c.660C>T	c.(658-660)ttC>ttT	p.F220F		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TAGTGACAATGAAAACATAAG	0.413000													9	92					0	0	1	0	0
ZC3H13	23091	broad.mit.edu	37	13	46562942	46562942	+	Missense_Mutation	SNP	C	C	G	rs144528347		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr13:46562942C>G	ENST00000242848.4	-	9	1583	c.1235G>C	c.(1234-1236)cGa>cCa	p.R412P	ZC3H13_ENST00000282007.3_Missense_Mutation_p.R412P			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	412	Arg/Ser-rich.						nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TTCATGGCGTCGATCATGAGA	0.423000													4	27					0	0	1	0	0
OR1C1	26188	broad.mit.edu	37	1	247920913	247920913	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:247920913G>A	ENST00000408896.2	-	1	1069	c.796C>T	c.(796-798)Cat>Tat	p.H266Y		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TCAGGCATATGGGGGGATGAA	0.517000													10	43					0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55872554	55872554	+	Silent	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:55872554C>T	ENST00000313503.1	+	1	36	c.36C>T	c.(34-36)gaC>gaT	p.D12D		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					ATGTGGCTGACTTCATCCTTA	0.448000										HNSCC(53;0.14)			13	170					0	0	1	0	0
ZNF613	79898	broad.mit.edu	37	19	52448286	52448286	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:52448286A>G	ENST00000293471.6	+	6	1829	c.1150A>G	c.(1150-1152)Aag>Gag	p.K384E	ZNF613_ENST00000601794.1_3'UTR|ZNF613_ENST00000391794.4_Missense_Mutation_p.K348E	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	384					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		CTTCATTCAGAAGGGAAATCT	0.413000													8	62					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179639863	179639863	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:179639863G>A	ENST00000589042.1	-	29	6799	c.6575C>T	c.(6574-6576)gCa>gTa	p.A2192V	TTN_ENST00000591111.1_Missense_Mutation_p.A2192V|TTN_ENST00000460472.2_Missense_Mutation_p.A2146V|TTN_ENST00000342175.6_Missense_Mutation_p.A2146V|TTN_ENST00000360870.5_Missense_Mutation_p.A2192V|TTN_ENST00000342992.6_Missense_Mutation_p.A2192V|TTN_ENST00000359218.5_Missense_Mutation_p.A2146V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1947	Ig-like 11.						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)			TTCAAAGGTTGCCATAGTGTC	0.403000													6	72					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48689409	48689409	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:48689409T>A	ENST00000314191.2	-	86	12231	c.12175A>T	c.(12175-12177)Act>Tct	p.T4059S	PRKDC_ENST00000338368.3_Missense_Mutation_p.T4028S|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	4060					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)				TCTTACCAAGTAATGACTGCT	0.388000								Non-homologous end-joining					4	23					0	0	1	0	0
PLS3	5358	broad.mit.edu	37	X	114877687	114877687	+	Silent	SNP	A	A	G	rs113204501	byFrequency	TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:114877687A>G	ENST00000420625.2	+	10	1184	c.1050A>G	c.(1048-1050)agA>agG	p.R350R	PLS3_ENST00000289290.3_Silent_p.R314R|PLS3_ENST00000543070.1_Intron|PLS3_ENST00000537301.1_Silent_p.R337R|PLS3_ENST00000539310.1_Silent_p.R305R|PLS3_ENST00000355899.3_Silent_p.R350R	NM_001136025.3|NM_001172335.1	NP_001129497.1|NP_001165806.1	P13797	PLST_HUMAN	plastin 3	350	Actin-binding 1.|CH 2.					cytoplasm	actin binding|calcium ion binding			NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						TAGGTTGCAGACAGTTTGTTA	0.418000													4	24					0	0	1	0	0
PTGDR	5729	broad.mit.edu	37	14	52734927	52734927	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr14:52734927T>G	ENST00000306051.2	+	1	497	c.395T>G	c.(394-396)cTc>cGc	p.L132R	PTGDR_ENST00000553372.1_Missense_Mutation_p.L132R	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	132						integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	GAGTGCTGGCTCTCCCTAGGG	0.622000													9	67					0	0	1	0	0
TMEM154	201799	broad.mit.edu	37	4	153565595	153565595	+	Splice_Site	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:153565595C>T	ENST00000304385.3	-	4	596		c.e4-1			NM_152680.2	NP_689893.1	Q6P9G4	TM154_HUMAN	transmembrane protein 154							integral to membrane				kidney(2)|large_intestine(1)	3	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				CCCAGTTCATCTAAAAGGAAA	0.398000													4	17					0	0	1	0	0
OLA1	29789	broad.mit.edu	37	2	174943776	174943776	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:174943776C>G	ENST00000284719.3	-	10	1255	c.1009G>C	c.(1009-1011)Gat>Cat	p.D337H	OLA1_ENST00000392560.2_5'UTR|OLA1_ENST00000428402.2_Intron|OLA1_ENST00000409546.1_Missense_Mutation_p.D357H|OLA1_ENST00000344357.5_Missense_Mutation_p.D179H	NM_013341.3	NP_037473.3	Q9NTK5	OLA1_HUMAN	Obg-like ATPase 1	337					ATP catabolic process	cytoplasm	ATP binding|GTP binding|hydrolase activity|protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						TTTTCAAAATCTGTGTGAATC	0.348000													6	17					0	0	1	0	0
CEP68	23177	broad.mit.edu	37	2	65299049	65299049	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:65299049C>A	ENST00000377990.2	+	3	1022	c.819C>A	c.(817-819)taC>taA	p.Y273*	CEP68_ENST00000537589.1_5'UTR|RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000497039.1_3'UTR|CEP68_ENST00000260569.4_Nonsense_Mutation_p.Y273*|CEP68_ENST00000546106.1_Nonsense_Mutation_p.Y273*	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	273					centrosome organization	centrosome				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						AGGCTGAGTACTGGGCCTGTG	0.582000													12	74					6.40141e-05	8.33271e-05	1	1	0
FBXW7	55294	broad.mit.edu	37	4	153249524	153249524	+	Silent	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:153249524C>A	ENST00000281708.4	-	9	2483	c.1254G>T	c.(1252-1254)gtG>gtT	p.V418V	FBXW7_ENST00000263981.5_Silent_p.V338V|FBXW7_ENST00000393956.3_Silent_p.V242V|FBXW7_ENST00000603548.1_Silent_p.V418V|FBXW7_ENST00000603841.1_Silent_p.V418V|FBXW7_ENST00000296555.5_Silent_p.V300V	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	418					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				CTGTATGTCCCACTAATGTTC	0.363000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								19	119					5.3912e-06	7.62233e-06	1	1	0
EYS	346007	broad.mit.edu	37	6	66045008	66045008	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:66045008T>G	ENST00000503581.1	-	11	2168	c.1631A>C	c.(1630-1632)gAa>gCa	p.E544A	EYS_ENST00000370618.3_Missense_Mutation_p.E544A|EYS_ENST00000342421.5_Missense_Mutation_p.E544A|EYS_ENST00000393380.2_Missense_Mutation_p.E544A|EYS_ENST00000370621.3_Missense_Mutation_p.E544A|EYS_ENST00000370616.2_Missense_Mutation_p.E544A	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	544					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ACTGTCTTCTTCACTCAAACA	0.353000													4	56					0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2161344	2161344	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr16:2161344C>A	ENST00000262304.4	-	15	4032	c.3824G>T	c.(3823-3825)gGt>gTt	p.G1275V	PKD1_ENST00000423118.1_Missense_Mutation_p.G1275V	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1275	PKD 7.				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						GCTGGCCGCACCCACGGTCAC	0.697000													5	8					0.000602214	0.000725341	1	1	0
CORIN	10699	broad.mit.edu	37	4	47682191	47682191	+	Missense_Mutation	SNP	C	C	A	rs150957535		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:47682191C>A	ENST00000273857.4	-	8	1098	c.1099G>T	c.(1099-1101)Gac>Tac	p.D367Y	CORIN_ENST00000508498.1_Missense_Mutation_p.D228Y|CORIN_ENST00000504584.1_Intron|CORIN_ENST00000502252.1_Missense_Mutation_p.D300Y|CORIN_ENST00000505909.1_Intron	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	367	LDL-receptor class A 3.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						TCCACACAGTCGTGGTCACCA	0.507000													4	17					0.00024832	0.000309642	1	1	0
FMO1	2326	broad.mit.edu	37	1	171251202	171251202	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:171251202G>C	ENST00000354841.4	+	6	1044	c.913G>C	c.(913-915)Gag>Cag	p.E305Q	FMO1_ENST00000367750.3_Missense_Mutation_p.E305Q|FMO1_ENST00000402921.2_Missense_Mutation_p.E242Q|FMO1_ENST00000469112.1_3'UTR			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	305					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AAGCATAAAAGAGGTAAAGGA	0.408000													9	40					0	0	1	0	0
RASGRP3	25780	broad.mit.edu	37	2	33783350	33783350	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:33783350C>G	ENST00000403687.3	+	16	2392	c.1652C>G	c.(1651-1653)cCc>cGc	p.P551R	RASGRP3_ENST00000407811.1_Missense_Mutation_p.P550R|RASGRP3_ENST00000402538.3_Missense_Mutation_p.P551R|AC020594.5_ENST00000437680.1_RNA	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	551					MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					GCCCGGGCGCCCTCCTTGAGC	0.567000													3	16					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55755479	55755479	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:55755479C>G	ENST00000373965.2	-	22	3213	c.2819G>C	c.(2818-2820)gGg>gCg	p.G940A	PCDH15_ENST00000395438.1_Missense_Mutation_p.G933A|PCDH15_ENST00000395433.1_Missense_Mutation_p.G911A|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373955.1_Missense_Mutation_p.G933A|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.G933A|PCDH15_ENST00000395430.1_Missense_Mutation_p.G933A|PCDH15_ENST00000395445.1_Missense_Mutation_p.G940A|PCDH15_ENST00000437009.1_Missense_Mutation_p.G862A|PCDH15_ENST00000361849.3_Missense_Mutation_p.G933A|PCDH15_ENST00000395432.2_Missense_Mutation_p.G896A|PCDH15_ENST00000409834.1_Missense_Mutation_p.G544A|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.G938A	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	933	Cadherin 9.				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)				AGCCACCATCCCTTTGTATAT	0.398000										HNSCC(58;0.16)			8	41					0	0	1	0	0
C7orf34	135927	broad.mit.edu	37	7	142637649	142637649	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:142637649A>C	ENST00000409607.3	+	2	460	c.419A>C	c.(418-420)cAa>cCa	p.Q140P		NM_178829.4	NP_849151.2	Q96L11	CG034_HUMAN	chromosome 7 open reading frame 34	115						extracellular region				large_intestine(1)|lung(4)	5	Melanoma(164;0.059)					CCAAATATCCAACTCTGCTTC	0.542000													8	62					0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152129375	152129375	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:152129375C>A	ENST00000316073.3	-	3	264	c.200G>T	c.(199-201)gGa>gTa	p.G67V		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	67	EF-hand 2.|S-100-like (By similarity).					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ATCAATATGTCCATCTCGGTC	0.433000													14	87					9.31168e-06	1.29658e-05	1	1	0
MGAT4C	25834	broad.mit.edu	37	12	86373324	86373324	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:86373324C>A	ENST00000604798.1	-	8	2384	c.1180G>T	c.(1180-1182)Gta>Tta	p.V394L	MGAT4C_ENST00000393205.2_Missense_Mutation_p.V423L|MGAT4C_ENST00000549405.2_Missense_Mutation_p.V394L|MGAT4C_ENST00000332156.1_Missense_Mutation_p.V394L|MGAT4C_ENST00000548651.1_Missense_Mutation_p.V394L|MGAT4C_ENST00000552808.2_Missense_Mutation_p.V394L			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	394					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CCAGTATTTACtttaattttt	0.348000													4	29					0.150653	0.155562	1	1	0
FMN2	56776	broad.mit.edu	37	1	240370353	240370353	+	Silent	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:240370353C>A	ENST00000319653.9	+	5	2471	c.2241C>A	c.(2239-2241)tcC>tcA	p.S747S		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	747					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TACAGACTTCCCCCACGGAAG	0.567000													7	21					2.7689e-08	4.35722e-08	1	1	0
PDCL3	79031	broad.mit.edu	37	2	101185443	101185443	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:101185443G>A	ENST00000264254.6	+	3	562	c.184G>A	c.(184-186)Gag>Aag	p.E62K		NM_024065.4	NP_076970.1	Q9H2J4	PDCL3_HUMAN	phosducin-like 3	62					apoptosis|interspecies interaction between organisms	cytoplasm	protein binding			endometrium(3)|large_intestine(2)|liver(1)|lung(6)	12						TCATGAAGACGAGTTTAATGA	0.363000													4	45					0	0	1	0	0
METTL13	51603	broad.mit.edu	37	1	171753398	171753398	+	Silent	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:171753398G>A	ENST00000361735.3	+	2	938	c.672G>A	c.(670-672)gaG>gaA	p.E224E	METTL13_ENST00000458517.1_Silent_p.E223E|METTL13_ENST00000362019.3_Silent_p.E138E|METTL13_ENST00000367737.5_Intron	NM_015935.4	NP_057019.3	Q8N6R0	MTL13_HUMAN	methyltransferase like 13	224							methyltransferase activity|protein binding			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						AGATCTTTGAGCTGTGTGCTC	0.612000													5	47					0	0	1	0	0
ACE	1636	broad.mit.edu	37	17	61566339	61566339	+	Nonsense_Mutation	SNP	C	C	G	rs35580653	byFrequency	TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:61566339C>G	ENST00000577647.1	+	6	810	c.765C>G	c.(763-765)taC>taG	p.Y255*	ACE_ENST00000413513.3_Nonsense_Mutation_p.Y255*|ACE_ENST00000421982.2_Intron|ACE_ENST00000490216.2_Nonsense_Mutation_p.Y255*|ACE_ENST00000290863.6_Nonsense_Mutation_p.Y255*|ACE_ENST00000290866.4_Nonsense_Mutation_p.Y829*|ACE_ENST00000428043.1_Nonsense_Mutation_p.Y829*			P12821	ACE_HUMAN	angiotensin I converting enzyme	829	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GGTCTATGTACGAGACACCAT	0.607000													4	41					0	0	1	0	0
KIAA1614	57710	broad.mit.edu	37	1	180885891	180885891	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:180885891C>G	ENST00000367588.4	+	2	707	c.652C>G	c.(652-654)Ccc>Gcc	p.P218A		NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	218										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						TGGAGTTACTCCCGGACGGCC	0.582000													20	93					0	0	1	0	0
NPFFR2	10886	broad.mit.edu	37	4	73013189	73013189	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:73013189A>T	ENST00000308744.6	+	4	1327	c.1229A>T	c.(1228-1230)cAg>cTg	p.Q410L	NPFFR2_ENST00000395999.1_Missense_Mutation_p.Q311L|NPFFR2_ENST00000358749.3_Missense_Mutation_p.Q308L|NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000506359.1_3'UTR	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	410					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)			AATGAACTGCAGATCATCAAC	0.468000													12	68					0	0	1	0	0
NEURL2	140825	broad.mit.edu	37	20	44519404	44519404	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr20:44519404C>A	ENST00000372518.4	-	1	522	c.227G>T	c.(226-228)gGc>gTc	p.G76V		NM_001278535.1|NM_080749.2	NP_001265464.1|NP_542787.1	Q9BR09	NEUL2_HUMAN	neuralized E3 ubiquitin protein ligase 2	76	NHR.				intracellular signal transduction					large_intestine(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				TCCGCACCAGCCCAGCTCTTT	0.682000													7	15					0.00198382	0.00230193	1	1	0
PPIP5K2	23262	broad.mit.edu	37	5	102493941	102493941	+	Silent	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:102493941T>C	ENST00000321521.9	+	15	2112	c.1539T>C	c.(1537-1539)ggT>ggC	p.G513G	PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000358359.3_Silent_p.G513G|PPIP5K2_ENST00000414217.1_Silent_p.G513G			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	513					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AATGGGGAGGTGAATTAACTC	0.378000													3	21					0	0	1	0	0
VIM	7431	broad.mit.edu	37	10	17277252	17277252	+	Silent	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:17277252C>T	ENST00000544301.1	+	7	1506	c.1093C>T	c.(1093-1095)Ctg>Ttg	p.L365L	VIM_ENST00000224237.5_Silent_p.L365L	NM_003380.3	NP_003371.2	P08670	VIME_HUMAN	vimentin	365	Coil 2.|Rod.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TATTGGCCGCCTGCAGGATGA	0.488000													10	63					0	0	1	0	0
FSCB	84075	broad.mit.edu	37	14	44976261	44976261	+	Translation_Start_Site	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr14:44976261C>T	ENST00000340446.4	-	0	221					NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein							cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		AGAGTCATCACTTTCTTCCAT	0.373000													11	46					0	0	1	0	0
OR2F2	135948	broad.mit.edu	37	7	143632476	143632476	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:143632476C>A	ENST00000408955.2	+	1	218	c.151C>A	c.(151-153)Ctg>Atg	p.L51M		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					TCTGATCAGACTGGACAGCCG	0.517000													7	160					0.00198382	0.00230193	1	1	0
MUC2	4583	broad.mit.edu	37	11	1093908	1093908	+	Silent	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:1093908G>A	ENST00000441003.2	+	30	5754	c.5727G>A	c.(5725-5727)ccG>ccA	p.P1909P	MUC2_ENST00000333592.6_Silent_p.P197P|MUC2_ENST00000361558.6_Intron	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1935						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TGTCTCCACCGCCCAGCACCA	0.647000													6	46					0	0	1	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27535850	27535850	+	RNA	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:27535850G>T	ENST00000574842.1	+	0	255																											TGCAGTCCCAGCGGAATCTGC	0.458000													4	67					0.00909568	0.00998677	1	1	0
ACRC	93953	broad.mit.edu	37	X	70823983	70823983	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:70823983G>A	ENST00000373695.1	+	7	1393	c.856G>A	c.(856-858)Gac>Aac	p.D286N	ACRC_ENST00000373696.3_Missense_Mutation_p.D286N			Q96QF7	ACRC_HUMAN	acidic repeat containing	286	Asp/Ser-rich.					nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					GGAAGCTTCCGACGACAGCAG	0.547000													32	71					0	0	1	0	0
KMT2E	55904	broad.mit.edu	37	7	104717782	104717782	+	Silent	SNP	A	A	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:104717782A>G	ENST00000334877.4	+	11	1566	c.1032A>G	c.(1030-1032)aaA>aaG	p.K344K	KMT2E_ENST00000257745.4_Silent_p.K344K|KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000476671.1_Silent_p.K344K|KMT2E_ENST00000311117.3_Silent_p.K344K					lysine (K)-specific methyltransferase 2E																		AAATTCTTAAATCTGCAAAAG	0.299000													4	34					0	0	1	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50462124	50462124	+	Missense_Mutation	SNP	G	G	C	rs149136670	byFrequency	TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:50462124G>C	ENST00000447370.2	-	7	1229	c.1139C>G	c.(1138-1140)cCg>cGg	p.P380R	SIGLEC11_ENST00000426971.2_Missense_Mutation_p.P380R	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	380	Ig-like C2-type 3.				cell adhesion	integral to membrane	sugar binding	p.P368R(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		CTCCAGGACCGGGAGGGATGT	0.672000													5	52					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141115556	141115556	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:141115556C>A	ENST00000389484.3	-	74	12358	c.11387G>T	c.(11386-11388)tGc>tTc	p.C3796F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3796	LDL-receptor class A 32.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACCTATTCTGCATCCTTGCTC	0.403000										TSP Lung(27;0.18)			6	52					0.00116845	0.00137844	1	1	0
GRM5	2915	broad.mit.edu	37	11	88300970	88300970	+	Silent	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:88300970C>A	ENST00000418177.2	-	8	2248	c.1881G>T	c.(1879-1881)ctG>ctT	p.L627L	GRM5_ENST00000393297.1_Silent_p.L627L|GRM5_ENST00000455756.2_Silent_p.L627L|GRM5_ENST00000305447.4_Silent_p.L627L|GRM5_ENST00000305432.5_Silent_p.L627L			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	627					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	ATAAGTAGCCCAGGCAGATGC	0.478000													12	36					7.03913e-09	1.12308e-08	1	1	0
DDX59	83479	broad.mit.edu	37	1	200628172	200628172	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:200628172T>C	ENST00000447706.2	-	4	1196	c.1045A>G	c.(1045-1047)Att>Gtt	p.I349V	DDX59_ENST00000331314.6_Missense_Mutation_p.I349V|DDX59_ENST00000367348.3_Missense_Mutation_p.I349V			Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	349	Helicase ATP-binding.					intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						ACTACCACAATCTTTACACCA	0.308000													11	63					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164735340	164735340	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:164735340G>C	ENST00000264382.3	-	31	3817	c.3755C>G	c.(3754-3756)cCc>cGc	p.P1252R		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1252	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ACATACATAGGGGATGTTAGC	0.328000										HNSCC(35;0.089)			4	35					0	0	1	0	0
CIT	11113	broad.mit.edu	37	12	120128040	120128040	+	Silent	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:120128040C>G	ENST00000392521.2	-	47	6157	c.6102G>C	c.(6100-6102)cgG>cgC	p.R2034R	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Silent_p.R1992R	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	1992					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TCCCGGGGGACCGCTCTCTCC	0.706000													4	10					0	0	1	0	0
PDHA2	5161	broad.mit.edu	37	4	96761560	96761560	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:96761560G>T	ENST00000295266.4	+	1	322	c.259G>T	c.(259-261)Ggt>Tgt	p.G87C		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	87					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	ATTCATTCGCGGTTTCTGTCA	0.522000													10	63					0.000442599	0.000543056	1	1	0
ALB	213	broad.mit.edu	37	4	74274354	74274354	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:74274354G>T	ENST00000295897.4	+	4	403	c.314G>T	c.(313-315)cGt>cTt	p.R105L	ALB_ENST00000415165.2_Intron|ALB_ENST00000509063.1_Missense_Mutation_p.R105L|ALB_ENST00000503124.1_Intron|ALB_ENST00000401494.3_Intron|ALB_ENST00000505649.1_Intron	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	105	Albumin 1.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	GCAACTCTTCGTGAAACCTAT	0.423000													3	25					6.4e-05	8.33271e-05	1	1	0
LAMA2	3908	broad.mit.edu	37	6	129828772	129828772	+	Missense_Mutation	SNP	G	G	T	rs143638361	by1000genomes	TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:129828772G>T	ENST00000421865.2	+	62	8891	c.8842G>T	c.(8842-8844)Ggt>Tgt	p.G2948C		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2948	Laminin G-like 5.				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)		TGACGGAACCGGTTTTGCCAA	0.433000													16	102					6.31663e-08	9.83895e-08	1	1	0
SLCO1C1	53919	broad.mit.edu	37	12	20876088	20876088	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:20876088C>A	ENST00000381552.1	+	9	1454	c.1086C>A	c.(1084-1086)agC>agA	p.S362R	SLCO1C1_ENST00000266509.2_Missense_Mutation_p.S362R|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.S244R|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.S313R|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.S362R			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	362					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					TATGTACAAGCACTGTTCAGT	0.378000													4	51					0.00909568	0.00998677	1	1	0
PCDHA2	56146	broad.mit.edu	37	5	140176235	140176235	+	Silent	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:140176235G>A	ENST00000526136.1	+	1	1686	c.1686G>A	c.(1684-1686)gcG>gcA	p.A562A	PCDHA2_ENST00000378132.1_Silent_p.A562A|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Silent_p.A562A|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGACAACGCGCCGGCACTGT	0.697000													21	60					0	0	1	0	0
GCKR	2646	broad.mit.edu	37	2	27746223	27746223	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:27746223G>A	ENST00000264717.2	+	19	1858	c.1795G>A	c.(1795-1797)Gag>Aag	p.E599K	GCKR_ENST00000424318.2_Missense_Mutation_p.E409K	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	599					carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					TTCTGTCTGTGAGGCTGTCAG	0.597000													4	27					0	0	1	0	0
GALNT8	26290	broad.mit.edu	37	12	4855336	4855336	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:4855336C>A	ENST00000252318.2	+	6	1422	c.1085C>A	c.(1084-1086)gCt>gAt	p.A362D		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	362	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						GGCATCCTGGCTGCTAACAGG	0.527000													6	56					0.00116845	0.00137844	1	1	0
PDLIM3	27295	broad.mit.edu	37	4	186427757	186427757	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:186427757G>C	ENST00000284770.5	-	6	785	c.712C>G	c.(712-714)Cac>Gac	p.H238D	PDLIM3_ENST00000284767.5_3'UTR|PDLIM3_ENST00000284771.6_Missense_Mutation_p.H190D	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	238						sarcomere	zinc ion binding			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		CGATTGTCGTGGAGCATCCGG	0.652000													4	47					0	0	1	0	0
ANKRD17	26057	broad.mit.edu	37	4	74043124	74043124	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:74043124T>C	ENST00000358602.4	-	2	636	c.520A>G	c.(520-522)Aga>Gga	p.R174G	ANKRD17_ENST00000509867.2_Missense_Mutation_p.R61G|ANKRD17_ENST00000330838.6_Missense_Mutation_p.R174G	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	174					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCTTCCAGTCTAGCCTGTGTT	0.403000													7	30					0	0	1	0	0
ANKRD20A1	84210	broad.mit.edu	37	9	67951993	67951993	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:67951993G>T	ENST00000377477.2	+	9	1068	c.956G>T	c.(955-957)aGa>aTa	p.R319I		NM_032250.3	NP_115626.2			ankyrin repeat domain 20 family, member A1											kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	11						AAAGGAAACAGAATAGTCAAT	0.423000													23	58					4.59853e-10	7.56001e-10	1	1	0
CREBBP	1387	broad.mit.edu	37	16	3786795	3786795	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr16:3786795C>A	ENST00000262367.5	-	27	5225	c.4416G>T	c.(4414-4416)tgG>tgT	p.W1472C	CREBBP_ENST00000382070.3_Missense_Mutation_p.W1434C	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1472	Cys/His-rich.|Interaction with TRERF1.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GAGGACAGGCCCAGATGTGCC	0.507000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						20	50					8.00594e-06	1.12499e-05	1	1	0
BFSP2	8419	broad.mit.edu	37	3	133119065	133119065	+	Silent	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:133119065C>A	ENST00000302334.2	+	1	227	c.138C>A	c.(136-138)gcC>gcA	p.A46A		NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	46	Head.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						GGACCAATGCCATGAGTGGCC	0.677000													7	69					0.00198382	0.00230193	1	1	0
FSTL5	56884	broad.mit.edu	37	4	162508697	162508697	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:162508697T>A	ENST00000306100.5	-	8	1361	c.925A>T	c.(925-927)Act>Tct	p.T309S	FSTL5_ENST00000379164.4_Missense_Mutation_p.T308S|FSTL5_ENST00000511170.1_5'UTR|FSTL5_ENST00000427802.2_Missense_Mutation_p.T308S|FSTL5_ENST00000536695.1_Missense_Mutation_p.T308S	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	309	Ig-like 1.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		GTAACCTTAGTAATATACAAG	0.338000													6	52					0	0	1	0	0
KCTD8	386617	broad.mit.edu	37	4	44450346	44450346	+	Silent	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:44450346G>C	ENST00000360029.3	-	1	478	c.195C>G	c.(193-195)gtC>gtG	p.V65V		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	65	BTB.					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						TACTGTCCGGGACGCTGAGCA	0.692000										HNSCC(17;0.042)			3	16					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139153565	139153565	+	Silent	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:139153565G>T	ENST00000395297.1	-	17	3836	c.3666C>A	c.(3664-3666)atC>atA	p.I1222I		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1222										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ATCGGATGATGATGTTGCCAA	0.552000										HNSCC(54;0.14)			5	66					0.014758	0.0159185	1	1	0
XIRP2	129446	broad.mit.edu	37	2	168100627	168100627	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:168100627G>T	ENST00000409195.1	+	9	2814	c.2725G>T	c.(2725-2727)Gtt>Ttt	p.V909F	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.V687F|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.V909F	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	734					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						AAAAGGGGATGTTAGGCATCA	0.358000													6	50					0.0215528	0.0230314	1	1	0
NPHP1	4867	broad.mit.edu	37	2	110927450	110927450	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:110927450G>T	ENST00000316534.4	-	5	528	c.455C>A	c.(454-456)tCa>tAa	p.S152*	NPHP1_ENST00000417665.1_Nonsense_Mutation_p.S152*|NPHP1_ENST00000445609.2_Nonsense_Mutation_p.S152*|NPHP1_ENST00000393272.3_Nonsense_Mutation_p.S152*|NPHP1_ENST00000355301.4_Nonsense_Mutation_p.S90*			O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	152	SH3.				actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						TTCACCGGTTGACCATTTGTG	0.418000													4	34					0.00024832	0.000309642	1	1	0
POLR2G	5436	broad.mit.edu	37	11	62529266	62529266	+	Splice_Site	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:62529266G>T	ENST00000301788.7	+	2	117		c.e2-1			NM_002696.2	NP_002687.1	P62487	RPB7_HUMAN	polymerase (RNA) II (DNA directed) polypeptide G						mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA-directed RNA polymerase activity|protein binding|RNA binding			lung(3)	3						TTTCTCCGCAGATCTCCCTAG	0.617000													8	104					1.06961e-07	1.64929e-07	1	1	0
OR5J2	282775	broad.mit.edu	37	11	55944828	55944828	+	Silent	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:55944828G>A	ENST00000312298.1	+	1	735	c.735G>A	c.(733-735)ctG>ctA	p.L245L		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					CCTCTCACCTGACTGCTGTGA	0.438000													12	81					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216052385	216052385	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:216052385T>C	ENST00000366943.2	-	42	8665	c.8279A>G	c.(8278-8280)cAc>cGc	p.H2760R	USH2A_ENST00000307340.3_Missense_Mutation_p.H2760R			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2760	Fibronectin type-III 14.				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)		GTCAGGCATGTGAATCTCATA	0.398000										HNSCC(13;0.011)			13	92					0	0	1	0	0
DOCK8	81704	broad.mit.edu	37	9	286627	286627	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:286627C>A	ENST00000432829.2	+	3	435	c.119C>A	c.(118-120)cCg>cAg	p.P40Q	DOCK8_ENST00000469391.1_Missense_Mutation_p.P40Q|DOCK8_ENST00000453981.1_Missense_Mutation_p.P108Q	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	108					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CCCTCTTTGCCGGAGGAAGGG	0.468000													3	26					0.115264	0.120372	1	1	0
SERPINB4	6318	broad.mit.edu	37	18	61309123	61309123	+	Splice_Site	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr18:61309123C>A	ENST00000341074.5	-	4	338		c.e4-1		SERPINB4_ENST00000356424.6_Splice_Site	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						ACCTATCAACCTTCAAACATC	0.388000													6	81					3.59834e-05	4.79257e-05	1	1	0
COL4A3	1285	broad.mit.edu	37	2	228173617	228173617	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:228173617A>T	ENST00000396578.3	+	49	4627	c.4465A>T	c.(4465-4467)Act>Tct	p.T1489S	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1489	Collagen IV NC1.|Required for the anti-angiogenic activity of tumstatin.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		TTCATTAGGAACTCTTGGCAG	0.358000													6	44					0	0	1	0	0
OR5B17	219965	broad.mit.edu	37	11	58126459	58126459	+	Missense_Mutation	SNP	C	C	A	rs149291904		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:58126459C>A	ENST00000357377.3	-	1	83	c.84G>T	c.(82-84)atG>atT	p.M28I		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TGAGGGTAAACATGATAAAGA	0.428000													5	69					0.217242	0.220847	1	1	0
NNT	23530	broad.mit.edu	37	5	43656127	43656127	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:43656127G>A	ENST00000264663.5	+	15	2466	c.2245G>A	c.(2245-2247)Ggt>Agt	p.G749S	NNT_ENST00000512996.2_Missense_Mutation_p.G618S|NNT_ENST00000344920.4_Missense_Mutation_p.G749S	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	749					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	CACTTACATTGGTGGCGTCAC	0.418000													8	30					0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46043027	46043027	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:46043027C>A	ENST00000295452.4	-	9	1543	c.1376G>T	c.(1375-1377)tGg>tTg	p.W459L		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	459					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		ATAGCCAACCCAATAAACCAA	0.348000													7	40					0.0293803	0.0312145	1	1	0
CTNND2	1501	broad.mit.edu	37	5	11364835	11364835	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:11364835G>T	ENST00000304623.8	-	8	1534	c.1345C>A	c.(1345-1347)Cac>Aac	p.H449N	CTNND2_ENST00000503622.1_Missense_Mutation_p.H112N|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.H449N|CTNND2_ENST00000511377.1_Missense_Mutation_p.H358N|CTNND2_ENST00000458100.2_Missense_Mutation_p.H16N	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	449					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GTGCCGGTGTGTGCTGGCGGC	0.612000													4	28					0.00024832	0.000309642	1	1	0
TRBV2	28620	broad.mit.edu	37	7	142001091	142001091	+	RNA	SNP	A	A	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:142001091A>T	ENST00000455382.2	+	0	257																											TGGGGCAGAAAGTCGAGTTTC	0.398000													5	14					0	0	1	0	0
IL3RA	3563	broad.mit.edu	37	X	1484092	1484092	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:1484092C>G	ENST00000331035.4	+	9	1170	c.821C>G	c.(820-822)gCc>gGc	p.A274G	IL3RA_ENST00000381469.2_Missense_Mutation_p.A196G	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	274						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		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)			Sargramostim(DB00020)	CAAATAAGAGCCCGGGAAAGA	0.562000													4	30					0	0	1	0	0
MDGA2	161357	broad.mit.edu	37	14	47530580	47530580	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr14:47530580G>A	ENST00000426342.1	-	7	1249	c.503C>T	c.(502-504)cCg>cTg	p.P168L	MDGA2_ENST00000399232.2_Missense_Mutation_p.P466L|MDGA2_ENST00000439988.2_Missense_Mutation_p.P397L|MDGA2_ENST00000357362.3_Missense_Mutation_p.P168L	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	397	Ig-like 2.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TGTTGTTCCCGGAGAGACATC	0.413000													8	76					0	0	1	0	0
FAM46C	54855	broad.mit.edu	37	1	118165857	118165857	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:118165857G>A	ENST00000369448.3	+	2	614	c.367G>A	c.(367-369)Ggt>Agt	p.G123S		NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN	family with sequence similarity 46, member C	123										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		CCTGCCAGAGGGTGTGAACAA	0.502000			"""Mis, F, O"""		MM					Multiple Myeloma(3;1.13e-06)			14	63					0	0	1	0	0
LRTM2	654429	broad.mit.edu	37	12	1940644	1940644	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:1940644G>A	ENST00000543818.1	+	4	1453	c.611G>A	c.(610-612)tGt>tAt	p.C204Y	LRTM2_ENST00000299194.1_Missense_Mutation_p.C204Y|LRTM2_ENST00000535041.1_Missense_Mutation_p.C204Y|CACNA2D4_ENST00000585708.1_Intron|LRTM2_ENST00000543730.1_Intron|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000382722.5_Intron	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	204	LRRCT.					integral to membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			GAGTGTGACTGTAACCTGCGT	0.602000													8	49					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179586797	179586797	+	Silent	SNP	A	A	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:179586797A>G	ENST00000589042.1	-	78	22817	c.22593T>C	c.(22591-22593)agT>agC	p.S7531S	TTN_ENST00000591111.1_Silent_p.S7214S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.S6287S|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7214	Ig-like 57.						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)			CAAAATCAGCACTTTCTCCAG	0.408000													7	142					0	0	1	0	0
OR5D18	219438	broad.mit.edu	37	11	55587755	55587755	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:55587755C>A	ENST00000333976.4	+	1	670	c.650C>A	c.(649-651)aCa>aAa	p.T217K		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				ATCGTTCTCACATCTTATGCG	0.483000													10	80					0.00621372	0.00702387	1	1	0
CXXC4	80319	broad.mit.edu	37	4	105412265	105412265	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:105412265C>T	ENST00000394767.2	-	2	1145	c.695G>A	c.(694-696)cGc>cAc	p.R232H	AC004053.1_ENST00000500179.1_RNA|CXXC4_ENST00000426831.1_Missense_Mutation_p.R63H|CXXC4_ENST00000466963.1_Intron	NM_025212.2	NP_079488.2	Q9H2H0	CXXC4_HUMAN	CXXC finger protein 4	63					negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		AGTCCCCACGCGCTCGGGGAG	0.572000													16	90					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39781291	39781291	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:39781291T>G	ENST00000564288.1	+	27	4154	c.3377T>G	c.(3376-3378)cTg>cGg	p.L1126R	MACF1_ENST00000372915.3_Missense_Mutation_p.L1131R|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000361689.2_Missense_Mutation_p.L1131R|MACF1_ENST00000567887.1_Missense_Mutation_p.L1163R|MACF1_ENST00000539005.1_Missense_Mutation_p.L1131R|MACF1_ENST00000545844.1_Missense_Mutation_p.L1131R|MACF1_ENST00000317713.7_Missense_Mutation_p.L1131R			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1131	Poly-Ser.				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)			GTCCCAACTCTGCGCTCAGAA	0.453000													5	59					0	0	1	0	0
PCDHGA8	9708	broad.mit.edu	37	5	140773203	140773203	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:140773203G>C	ENST00000398604.2	+	1	823	c.823G>C	c.(823-825)Gga>Cga	p.G275R	PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGAATCAACGGAAAAGTGGC	0.438000													7	66					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55626433	55626433	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:55626433C>T	ENST00000373965.2	-	28	4101	c.3707G>A	c.(3706-3708)gGg>gAg	p.G1236E	PCDH15_ENST00000395438.1_Missense_Mutation_p.G1229E|PCDH15_ENST00000395433.1_Missense_Mutation_p.G1207E|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.G1229E|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395430.1_Missense_Mutation_p.G1229E|PCDH15_ENST00000395445.1_Missense_Mutation_p.G1236E|PCDH15_ENST00000437009.1_Missense_Mutation_p.G1158E|PCDH15_ENST00000361849.3_Missense_Mutation_p.G1229E|PCDH15_ENST00000395432.2_Missense_Mutation_p.G1192E|PCDH15_ENST00000409834.1_Missense_Mutation_p.G840E|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.G1234E	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1229	Cadherin 11.				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)				CAGTCCCTTCCCATAGTCGTC	0.413000										HNSCC(58;0.16)			5	39					0	0	1	0	0
NUP37	79023	broad.mit.edu	37	12	102492909	102492909	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:102492909T>G	ENST00000552283.1	-	5	563	c.424A>C	c.(424-426)Agt>Cgt	p.S142R	NUP37_ENST00000543021.1_5'UTR|NUP37_ENST00000251074.1_Missense_Mutation_p.S142R			Q8NFH4	NUP37_HUMAN	nucleoporin 37kDa	142					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding			endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						TCACTCACACTTGCAATTTCT	0.348000													5	21					0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55136372	55136372	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:55136372G>T	ENST00000314706.3	+	1	1013	c.1013G>T	c.(1012-1014)gGg>gTg	p.G338V		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	338					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						AGCTTAGCTGGGAAATGGCTG	0.368000													9	84					1.12685e-05	1.55492e-05	1	1	0
PLCL1	5334	broad.mit.edu	37	2	199011586	199011586	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:199011586G>T	ENST00000428675.1	+	6	3586	c.3188G>T	c.(3187-3189)gGa>gTa	p.G1063V	PLCL1_ENST00000437704.2_Missense_Mutation_p.G965V	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	1063					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CTGTCCTGTGGACTGAGTAAA	0.498000													8	33					0.0381472	0.0403421	1	1	0
CPNE8	144402	broad.mit.edu	37	12	39079366	39079366	+	Silent	SNP	A	A	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:39079366A>C	ENST00000331366.5	-	16	1293	c.1197T>G	c.(1195-1197)gcT>gcG	p.A399A	CPNE8_ENST00000538596.2_Silent_p.A68A|CPNE8_ENST00000360449.3_Silent_p.A387A	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	399	VWFA.									NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				TCCTGTAATAAGCCTCCATGA	0.398000													8	74					0	0	1	0	0
AKR1B15	441282	broad.mit.edu	37	7	134256362	134256362	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:134256362G>C	ENST00000457545.2	+	6	702	c.442G>C	c.(442-444)Gat>Cat	p.D148H	AKR1B15_ENST00000423958.1_Missense_Mutation_p.D120H	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	148							oxidoreductase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						ACAGACTGGGGATGACTTTTT	0.423000													4	54					0	0	1	0	0
CDH7	1005	broad.mit.edu	37	18	63477204	63477204	+	Missense_Mutation	SNP	A	A	T	rs146356739		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr18:63477204A>T	ENST00000536984.2	+	3	1169	c.475A>T	c.(475-477)Acg>Tcg	p.T159S	CDH7_ENST00000323011.3_Missense_Mutation_p.T159S|CDH7_ENST00000397968.2_Missense_Mutation_p.T159S			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	159	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TGGCCCATACACGGCAGGAGT	0.448000													7	66					0	0	1	0	0
ANXA6	309	broad.mit.edu	37	5	150502540	150502540	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:150502540T>C	ENST00000354546.5	-	16	1398	c.1171A>G	c.(1171-1173)Acg>Gcg	p.T391A	ANXA6_ENST00000377751.5_Intron|ANXA6_ENST00000356496.5_Missense_Mutation_p.T391A|ANXA6_ENST00000521512.1_Missense_Mutation_p.T184A|ANXA6_ENST00000523714.1_Missense_Mutation_p.T359A	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	391						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGCGGTGCGTGATGATATCG	0.572000													8	30					0	0	1	0	0
PLA2G4C	8605	broad.mit.edu	37	19	48588343	48588343	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:48588343C>A	ENST00000354276.3	-	10	1144	c.817G>T	c.(817-819)Gct>Tct	p.A273S	PLA2G4C_ENST00000599921.1_Missense_Mutation_p.A273S|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.A273S|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.A283S	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	273	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		ATGCTTTTAGCATTAGCAACA	0.378000													3	19					0.004672	0.00531382	1	1	0
UGGT1	56886	broad.mit.edu	37	2	128865619	128865619	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:128865619G>C	ENST00000375990.3	+	4	716	c.313G>C	c.(313-315)Gct>Cct	p.A105P	UGGT1_ENST00000259253.6_Missense_Mutation_p.A129P			Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	129					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TTCTTACTCAGCTACAATCCA	0.428000													5	59					0	0	1	0	0
GPC5	2262	broad.mit.edu	37	13	92345617	92345617	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr13:92345617G>A	ENST00000377067.3	+	3	874	c.502G>A	c.(502-504)Gac>Aac	p.D168N		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	168						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CAGATTTTTTGACAGTCTTTT	0.468000													11	61					0	0	1	0	0
PTPRN	5798	broad.mit.edu	37	2	220172280	220172280	+	Splice_Site	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:220172280C>A	ENST00000295718.2	-	3	407		c.e3-1		PTPRN_ENST00000409251.3_Splice_Site|PTPRN_ENST00000423636.2_Splice_Site	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N						response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	p.?(1)		breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		AACAAGCCATCTAAGGGCACA	0.557000													5	35					1.23904e-05	1.68943e-05	1	1	0
ATP2C1	27032	broad.mit.edu	37	3	130674973	130674973	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:130674973G>T	ENST00000510168.1	+	11	1332	c.782G>T	c.(781-783)aGc>aTc	p.S261I	ATP2C1_ENST00000359644.3_Missense_Mutation_p.S261I|ATP2C1_ENST00000507488.2_Missense_Mutation_p.S245I|ATP2C1_ENST00000508532.1_Missense_Mutation_p.S261I|ATP2C1_ENST00000422190.2_Missense_Mutation_p.S261I|ATP2C1_ENST00000505330.1_Missense_Mutation_p.S245I|ATP2C1_ENST00000513801.1_Missense_Mutation_p.S245I|ATP2C1_ENST00000393221.4_Missense_Mutation_p.S295I|ATP2C1_ENST00000533801.2_Missense_Mutation_p.S256I|ATP2C1_ENST00000504948.1_Missense_Mutation_p.S245I|ATP2C1_ENST00000504381.1_Missense_Mutation_p.S206I|ATP2C1_ENST00000328560.8_Missense_Mutation_p.S261I|ATP2C1_ENST00000428331.2_Missense_Mutation_p.S261I			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	261					actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	CTGCAGAAGAGCATGGACCTC	0.358000									Hailey-Hailey disease				7	55					8.12818e-05	0.000104036	1	1	0
RNF17	56163	broad.mit.edu	37	13	25435502	25435502	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr13:25435502T>C	ENST00000255324.5	+	27	3923	c.3871T>C	c.(3871-3873)Tgt>Cgt	p.C1291R	RNF17_ENST00000339524.3_Missense_Mutation_p.C343R|RNF17_ENST00000381921.1_Missense_Mutation_p.C1291R	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1291					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TTGTATTCCTTGTCAGCTCCA	0.299000													20	86					0	0	1	0	0
OR4P4	81300	broad.mit.edu	37	11	55406720	55406720	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:55406720T>A	ENST00000314612.2	+	1	887	c.887T>A	c.(886-888)aTg>aAg	p.M296K		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						AAGAACGCCATGAGGAAAGTG	0.388000													9	19					0	0	1	0	0
CATSPER2P1	440278	broad.mit.edu	37	15	44029037	44029037	+	RNA	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr15:44029037C>A	ENST00000381680.2	-	0	747					NR_002318.2																						TCCTTACCAACATGGTAACAA	0.388000													10	44					0.361761	0.366951	1	1	0
C10orf107	219621	broad.mit.edu	37	10	63450371	63450371	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:63450371G>A	ENST00000330194.2	+	4	585	c.280G>A	c.(280-282)Gga>Aga	p.G94R		NM_173554.2	NP_775825.1	Q8IVU9	CJ107_HUMAN	chromosome 10 open reading frame 107	94										breast(1)|kidney(1)|lung(4)|prostate(1)|skin(1)	8	Prostate(12;0.016)					AATTGTGATAGGAACTGAGGT	0.348000													7	39					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10419286	10419286	+	Silent	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:10419286G>A	ENST00000226207.5	-	5	556	c.462C>T	c.(460-462)caC>caT	p.H154H	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	154	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						TGGAGAAGATGTGGGGTGGGG	0.473000													8	84					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91090551	91090551	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:91090551C>A	ENST00000373094.1	+	1	893	c.48C>A	c.(46-48)tgC>tgA	p.C16*	PCDH11X_ENST00000406881.1_Nonsense_Mutation_p.C16*|PCDH11X_ENST00000298274.8_Nonsense_Mutation_p.C16*|PCDH11X_ENST00000504220.1_Nonsense_Mutation_p.C16*|PCDH11X_ENST00000373097.1_Nonsense_Mutation_p.C16*|PCDH11X_ENST00000395337.2_Nonsense_Mutation_p.C16*|PCDH11X_ENST00000361724.1_Nonsense_Mutation_p.C16*|PCDH11X_ENST00000361655.2_Nonsense_Mutation_p.C16*|PCDH11X_ENST00000373088.1_Nonsense_Mutation_p.C16*	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	16					homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.C16C(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TGCTAGCATGCGTGGTGTTCC	0.478000													9	39					0.000274275	0.00034016	1	1	0
DAAM2	23500	broad.mit.edu	37	6	39835559	39835559	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:39835559G>T	ENST00000538976.1	+	6	884	c.702G>T	c.(700-702)aaG>aaT	p.K234N	DAAM2_ENST00000274867.4_Missense_Mutation_p.K234N|DAAM2_ENST00000398904.2_Missense_Mutation_p.K234N	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	234	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					GTGGCCACAAGAAGGTGCTGC	0.617000													4	19					0.00909568	0.00998677	1	1	0
BDKRB1	623	broad.mit.edu	37	14	96730474	96730474	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr14:96730474G>A	ENST00000216629.6	+	3	1061	c.455G>A	c.(454-456)aGg>aAg	p.R152K	BDKRB1_ENST00000553356.1_Missense_Mutation_p.R152K|RP11-404P21.3_ENST00000553638.1_RNA	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN	bradykinin receptor B1	152					elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		CAGCGGCGGAGGCAGGCCCGG	0.637000													7	40					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51175462	51175462	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr16:51175462A>T	ENST00000440970.1	-	2	811	c.380T>A	c.(379-381)cTg>cAg	p.L127Q	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.L224Q	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	224					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TGGGACGGCCAGCTTGCCCCC	0.582000													10	63					0	0	1	0	0
SMCP	4184	broad.mit.edu	37	1	152856902	152856902	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:152856902T>A	ENST00000368765.3	+	2	154	c.4T>A	c.(4-6)Tgt>Agt	p.C2S		NM_030663.2	NP_109588.2	P49901	MCSP_HUMAN	sperm mitochondria-associated cysteine-rich protein	2					penetration of zona pellucida|sperm motility	mitochondrial membrane				breast(1)|cervix(1)|endometrium(1)|lung(4)|urinary_tract(1)	8	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;0.171)			TCAGAAGATGTGTGACCAGAC	0.443000													9	46					0	0	1	0	0
PRUNE	58497	broad.mit.edu	37	1	151006322	151006322	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:151006322A>G	ENST00000271620.3	+	8	1130	c.974A>G	c.(973-975)aAg>aGg	p.K325R	PRUNE_ENST00000368935.1_Missense_Mutation_p.K40R|PRUNE_ENST00000368936.1_Missense_Mutation_p.K143R|PRUNE_ENST00000368937.1_Missense_Mutation_p.K90R|PRUNE_ENST00000271619.8_Missense_Mutation_p.K113R|PRUNE_ENST00000368934.1_Missense_Mutation_p.K90R	NM_021222.1	NP_067045.1	Q86TP1	PRUNE_HUMAN	prune exopolyphosphatase	325						cytoplasm|focal adhesion|nucleus	inorganic diphosphatase activity|manganese ion binding|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCACCCCTGAAGCTGACCCCT	0.527000													12	78					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25887832	25887832	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:25887832C>A	ENST00000376351.3	+	11	3636	c.3277C>A	c.(3277-3279)Cca>Aca	p.P1093T	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1093						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						TTCCAAGACTCCAGTTCTCCC	0.522000													8	66					5.18039e-06	7.33556e-06	1	1	0
SOX30	11063	broad.mit.edu	37	5	157053715	157053715	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:157053715C>A	ENST00000265007.6	-	5	2236	c.1895G>T	c.(1894-1896)aGt>aTt	p.S632I	SOX30_ENST00000519442.1_Missense_Mutation_p.S327I|SOX30_ENST00000311371.5_Missense_Mutation_p.V468F	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	632	Pro-rich.				regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGGAGGCCGACTGTAAGGGCA	0.423000													3	30					0.115264	0.120372	1	1	0
ZFP57	346171	broad.mit.edu	37	6	29640904	29640904	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:29640904C>A	ENST00000376883.1	-	6	1335	c.924G>T	c.(922-924)agG>agT	p.R308S	ZFP57_ENST00000376881.3_Missense_Mutation_p.R308S|ZFP57_ENST00000488757.1_Missense_Mutation_p.R328S			Q9NU63	ZFP57_HUMAN	ZFP57 zinc finger protein	244					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						GTTCCTGGGACCTGGCCACTG	0.557000													16	101					1.52009e-12	2.54456e-12	1	1	0
TRMT6	51605	broad.mit.edu	37	20	5921954	5921954	+	Silent	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr20:5921954G>A	ENST00000203001.2	-	9	1280	c.1150C>T	c.(1150-1152)Ctg>Ttg	p.L384L	TRMT6_ENST00000453074.2_Silent_p.L214L|TRMT6_ENST00000473131.1_5'UTR	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6 homolog (S. cerevisiae)	384					regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						AAAGACAGCAGCAGGGGAGTG	0.448000													8	63					0	0	1	0	0
PLEKHA5	54477	broad.mit.edu	37	12	19436567	19436567	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:19436567T>C	ENST00000538714.1	+	11	1653	c.1649T>C	c.(1648-1650)aTa>aCa	p.I550T	PLEKHA5_ENST00000309364.4_Missense_Mutation_p.I550T|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.I442T|PLEKHA5_ENST00000299275.6_Missense_Mutation_p.I550T|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.I550T|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.I556T|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.I550T|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.I550T|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.I308T|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.I442T	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	550							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					CACGGGTCAATAGCTGCTTAT	0.483000													8	61					0	0	1	0	0
CCL20	6364	broad.mit.edu	37	2	228680244	228680244	+	Silent	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:228680244C>A	ENST00000409189.3	+	2	218	c.148C>A	c.(148-150)Cgg>Agg	p.R50R	CCL20_ENST00000473642.1_3'UTR|CCL20_ENST00000358813.4_Silent_p.R51R	NM_001130046.1|NM_004591.2	NP_001123518.1|NP_004582.1	P78556	CCL20_HUMAN	chemokine (C-C motif) ligand 20	51					cell-cell signaling|chemotaxis|defense response to bacterium|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity			cervix(1)|lung(2)	3		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;7.3e-11)|all cancers(144;4.13e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		GGGCTTCACACGGCAGCTGGC	0.358000													8	55					0.0381472	0.0403421	1	1	0
SLC43A1	8501	broad.mit.edu	37	11	57256844	57256844	+	Silent	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:57256844G>A	ENST00000278426.3	-	12	1570	c.1215C>T	c.(1213-1215)tcC>tcT	p.S405S	SLC43A1_ENST00000528450.1_Silent_p.S405S	NM_003627.5	NP_003618.1	O75387	LAT3_HUMAN	solute carrier family 43 (amino acid system L transporter), member 1	405					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GTGGTCTGATGGATTTGGTAG	0.572000													12	78					0	0	1	0	0
SMARCD1	6602	broad.mit.edu	37	12	50488229	50488229	+	Silent	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:50488229G>A	ENST00000394963.4	+	10	1541	c.1143G>A	c.(1141-1143)ccG>ccA	p.P381P	SMARCD1_ENST00000548573.1_Silent_p.P179P|SMARCD1_ENST00000381513.4_Silent_p.P381P	NM_003076.4	NP_003067.3	Q96GM5	SMRD1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1	381	Interaction with SMARCC1 and SMARCC2.|Necessary for GR/NR3C1-mediated remodeling and transcription from chromatin; required for GR/NR3C1 interaction with the BRG1/SMARCA4 complex in vivo.|SWIB.				chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	protein complex scaffold|transcription coactivator activity			NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	18						GTGTTGACCCGAATGATCAGA	0.448000													6	104					0	0	1	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156618270	156618270	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:156618270C>A	ENST00000296518.7	+	3	460	c.251C>A	c.(250-252)cCa>cAa	p.P84Q	GUCY1A3_ENST00000506455.1_Missense_Mutation_p.P84Q|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.P84Q|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.P84Q|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000515602.1_3'UTR|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.P84Q|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.P84Q			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	84					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		CTGATTTTCCCAGAGGTGAGT	0.368000													6	45					5.9392e-07	8.86059e-07	1	1	0
PCDH17	27253	broad.mit.edu	37	13	58299101	58299101	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr13:58299101A>T	ENST00000377918.3	+	4	3179	c.3153A>T	c.(3151-3153)aaA>aaT	p.K1051N		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	1051					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CCTCAACAAAAGGCTCCCTGG	0.537000													8	60					0	0	1	0	0
ACVR1B	91	broad.mit.edu	37	12	52377833	52377833	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:52377833G>T	ENST00000257963.4	+	5	939	c.862G>T	c.(862-864)Ggg>Tgg	p.G288W	ACVR1B_ENST00000541224.1_Missense_Mutation_p.G329W|ACVR1B_ENST00000542485.1_Missense_Mutation_p.G236W|ACVR1B_ENST00000426655.2_Missense_Mutation_p.G288W|ACVR1B_ENST00000415850.2_Missense_Mutation_p.G288W|ACVR1B_ENST00000563121.1_3'UTR	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	288	Protein kinase.				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	TCATGAGCACGGGTCCCTGTT	0.488000													4	26					0.00909568	0.00998677	1	1	0
ZNF460	10794	broad.mit.edu	37	19	57796025	57796025	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:57796025G>T	ENST00000360338.3	+	2	459	c.137G>T	c.(136-138)tGt>tTt	p.C46F	ZNF460_ENST00000537645.1_Missense_Mutation_p.C5F	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	46	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTGGAGACCTGTGGGCTTCTG	0.582000													6	66					3.59834e-05	4.79257e-05	1	1	0
LIPH	200879	broad.mit.edu	37	3	185252694	185252694	+	Silent	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:185252694T>C	ENST00000296252.4	-	2	417	c.276A>G	c.(274-276)gtA>gtG	p.V92V	LIPH_ENST00000424591.2_Silent_p.V92V	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	92					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			GCAAACCCTTTACTAAGTCAT	0.438000													12	118					0	0	1	0	0
PGAM2	5224	broad.mit.edu	37	7	44102488	44102488	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:44102488C>T	ENST00000297283.3	-	3	694	c.637G>A	c.(637-639)Ggg>Agg	p.G213R		NM_000290.3	NP_000281.2	P15259	PGAM2_HUMAN	phosphoglycerate mutase 2 (muscle)	213					gluconeogenesis|glycolysis|striated muscle contraction	cytosol	2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity			large_intestine(2)|lung(4)|ovary(1)|stomach(1)	8						ATGGGGATCCCCGTGGGCAGG	0.577000													6	24					0	0	1	0	0
SLITRK2	84631	broad.mit.edu	37	X	144906317	144906317	+	Missense_Mutation	SNP	C	C	A	rs148553713		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:144906317C>A	ENST00000370490.1	+	1	6629	c.2374C>A	c.(2374-2376)Cgc>Agc	p.R792S	SLITRK2_ENST00000447897.2_Missense_Mutation_p.R792S|SLITRK2_ENST00000413937.2_Missense_Mutation_p.R792S|SLITRK2_ENST00000434188.2_Missense_Mutation_p.R792S|SLITRK2_ENST00000428560.2_Missense_Mutation_p.R792S			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	792						integral to membrane		p.R792G(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TGAATCTCGACGCCAAAACCA	0.453000													14	50					4.36969e-10	7.19668e-10	1	1	0
GLYATL2	219970	broad.mit.edu	37	11	58602269	58602269	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:58602269G>C	ENST00000287275.1	-	6	908	c.518C>G	c.(517-519)gCa>gGa	p.A173G	GLYATL2_ENST00000533636.1_5'UTR|GLYATL2_ENST00000532258.1_Missense_Mutation_p.A173G	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	173						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)	CACAAGACCTGCATGTGAAGC	0.388000													7	27					0	0	1	0	0
FCHO1	23149	broad.mit.edu	37	19	17886905	17886905	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:17886905C>A	ENST00000594202.1	+	16	1396	c.1117C>A	c.(1117-1119)Ccc>Acc	p.P373T	FCHO1_ENST00000596536.1_Missense_Mutation_p.P373T|FCHO1_ENST00000597512.1_Missense_Mutation_p.P380T|FCHO1_ENST00000252771.7_Missense_Mutation_p.P373T|FCHO1_ENST00000595033.1_Missense_Mutation_p.P323T|FCHO1_ENST00000600676.1_Missense_Mutation_p.P373T|FCHO1_ENST00000389133.4_Missense_Mutation_p.P373T|FCHO1_ENST00000539407.1_Missense_Mutation_p.P373T|FCHO1_ENST00000596951.1_Missense_Mutation_p.P373T	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN	FCH domain only 1	373										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						AGCCTGCAGCCCCGAGGCAGC	0.682000													11	95					1.58986e-06	2.32287e-06	1	1	0
IQGAP1	8826	broad.mit.edu	37	15	91035846	91035846	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr15:91035846G>T	ENST00000268182.5	+	35	4655	c.4531G>T	c.(4531-4533)Gct>Tct	p.A1511S	IQGAP1_ENST00000560738.1_Missense_Mutation_p.A939S	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1511	C2.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			ACAGACATACGCTGCTCTGAA	0.428000													3	26					1	1	1	1	0
SEMG2	6407	broad.mit.edu	37	20	43851452	43851452	+	Silent	SNP	T	T	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr20:43851452T>G	ENST00000372769.3	+	2	1269	c.1179T>G	c.(1177-1179)ccT>ccG	p.P393P		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	393	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				TAAGAATTCCTAGTCAAGCTC	0.403000													19	86					0	0	1	0	0
UTP20	27340	broad.mit.edu	37	12	101757447	101757447	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:101757447T>C	ENST00000261637.4	+	45	6058	c.5884T>C	c.(5884-5886)Tac>Cac	p.Y1962H		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1962					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						AAGCAAAAGTTACGACTCTTA	0.398000													6	32					0	0	1	0	0
GREM2	64388	broad.mit.edu	37	1	240656763	240656763	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:240656763G>T	ENST00000318160.4	-	2	279	c.13C>A	c.(13-15)Ctt>Att	p.L5I		NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	gremlin 2, DAN family BMP antagonist	5					BMP signaling pathway	extracellular space	cytokine activity			endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			GACAGGGAAAGCTTCCAGAAC	0.542000													3	15					0.004672	0.00531382	1	1	0
CRTC1	23373	broad.mit.edu	37	19	18856674	18856674	+	Silent	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:18856674C>T	ENST00000338797.6	+	4	358	c.333C>T	c.(331-333)acC>acT	p.T111T	CRTC1_ENST00000601916.1_Silent_p.T20T|CRTC1_ENST00000321949.8_Silent_p.T95T|CRTC1_ENST00000594658.1_Silent_p.T54T	NM_001098482.1	NP_001091952.1	Q6UUV9	CRTC1_HUMAN	CREB regulated transcription coactivator 1	95					interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						GCCGGACCACCCGGCACCATG	0.632000													7	78					0	0	1	0	0
APOBEC3D	140564	broad.mit.edu	37	22	39425401	39425401	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr22:39425401C>G	ENST00000216099.7	+	5	1046	c.639C>G	c.(637-639)ttC>ttG	p.F213L	APOBEC3D_ENST00000381568.4_Missense_Mutation_p.F213L|APOBEC3D_ENST00000427494.2_Intron	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D	213					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					CACACATATTCTACTTCCACT	0.502000													11	45					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10253892	10253892	+	Silent	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:10253892C>G	ENST00000418404.3	-	11	1288	c.1125G>C	c.(1123-1125)gcG>gcC	p.A375A	MYH13_ENST00000570743.1_Silent_p.A375A|MYH13_ENST00000252172.4_Silent_p.A375A			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	375	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.A375A(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CGTCTGGCTCCGCCTGCTCCT	0.542000													6	48					0	0	1	0	0
PON1	5444	broad.mit.edu	37	7	95025661	95025661	+	Translation_Start_Site	SNP	A	A	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:95025661A>T	ENST00000542556.1	-	1	12	c.2T>A	c.(1-3)aTg>aAg	p.M1K	PON3_ENST00000427422.1_Start_Codon_SNP_p.M1K|PON3_ENST00000265627.5_Start_Codon_SNP_p.M1K			P27169	PON1_HUMAN	paraoxonase 1	1					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	GAGCTTCCCCATGGTCTCGGG	0.706000													7	50					0	0	1	0	0
DPYSL5	56896	broad.mit.edu	37	2	27157445	27157445	+	Splice_Site	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:27157445G>T	ENST00000288699.6	+	8	948		c.e8-1		DPYSL5_ENST00000401478.1_Splice_Site	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5						axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTTCTTCCAGGGAAGGTTGT	0.567000													22	99					4.35082e-09	6.99021e-09	1	1	0
SYNE1	23345	broad.mit.edu	37	6	152603074	152603074	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:152603074C>A	ENST00000367255.5	-	97	18850	c.18249G>T	c.(18247-18249)caG>caT	p.Q6083H	SYNE1_ENST00000341594.5_Missense_Mutation_p.Q5695H|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q6083H|SYNE1_ENST00000356820.4_Missense_Mutation_p.Q607H|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q6012H|SYNE1_ENST00000423061.1_Missense_Mutation_p.Q6012H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6083					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTGCAGGGCCTGTTCCTGCC	0.493000										HNSCC(10;0.0054)			9	23					1.12685e-05	1.55492e-05	1	1	0
GPC2	221914	broad.mit.edu	37	7	99773204	99773204	+	Silent	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:99773204G>T	ENST00000292377.2	-	3	806	c.639C>A	c.(637-639)ctC>ctA	p.L213L		NM_152742.1	NP_689955.1	Q8N158	GPC2_HUMAN	glypican 2	213						anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCTGCAGGCGGAGGCGGCGGG	0.612000													3	12					0.004672	0.00531382	1	1	0
FAM155A	728215	broad.mit.edu	37	13	108518289	108518289	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr13:108518289G>T	ENST00000375915.2	-	1	794	c.656C>A	c.(655-657)tCg>tAg	p.S219*		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	219						integral to membrane	binding	p.S219L(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GTAAAAATCCGACAAGTTCCA	0.577000													10	71					1.76689e-08	2.78999e-08	1	1	0
OPCML	4978	broad.mit.edu	37	11	132306095	132306095	+	Silent	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:132306095G>A	ENST00000331898.7	-	6	1400	c.822C>T	c.(820-822)aaC>aaT	p.N274N	OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000541867.1_Silent_p.N274N|OPCML_ENST00000524381.1_Silent_p.N267N|OPCML_ENST00000374778.4_Silent_p.N233N	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	274	Ig-like C2-type 3.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		TGCGGCCTTTGTTTTCAATCC	0.458000													5	45					0	0	1	0	0
C6orf58	352999	broad.mit.edu	37	6	127899830	127899830	+	Splice_Site	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:127899830G>T	ENST00000329722.7	+	2	313		c.e2-1		C6orf58_ENST00000498112.1_Splice_Site	NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN	chromosome 6 open reading frame 58							extracellular region				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		CTCTCCTCCAGGCAGATTAGC	0.418000													11	75					9.70103e-10	1.58072e-09	1	1	0
OR2T11	127077	broad.mit.edu	37	1	248789670	248789670	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:248789670A>T	ENST00000330803.2	-	1	821	c.760T>A	c.(760-762)Tac>Aac	p.Y254N		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	254					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	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)			ACGTATGTGTAGAAGGCAGCC	0.522000													7	50					0	0	1	0	0
PDHA2	5161	broad.mit.edu	37	4	96761821	96761821	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:96761821G>A	ENST00000295266.4	+	1	583	c.520G>A	c.(520-522)Ggc>Agc	p.G174S		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	174					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	CCTGGGCGCTGGCATTGCTCT	0.502000													12	58					0	0	1	0	0
PON1	5444	broad.mit.edu	37	7	95025660	95025660	+	Translation_Start_Site	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:95025660C>A	ENST00000542556.1	-	1	13	c.3G>T	c.(1-3)atG>atT	p.M1I	PON3_ENST00000427422.1_Start_Codon_SNP_p.M1I|PON3_ENST00000265627.5_Start_Codon_SNP_p.M1I			P27169	PON1_HUMAN	paraoxonase 1	1					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	CGAGCTTCCCCATGGTCTCGG	0.706000													7	50					0.0293803	0.0312145	1	1	0
CHD4	1108	broad.mit.edu	37	12	6692238	6692238	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:6692238C>T	ENST00000309577.6	-	26	4349	c.4186G>A	c.(4186-4188)Gtg>Atg	p.V1396M	CHD4_ENST00000544484.1_Missense_Mutation_p.V1393M|CHD4_ENST00000357008.2_Missense_Mutation_p.V1368M|CHD4_ENST00000540960.1_5'UTR|CHD4_ENST00000544040.1_Missense_Mutation_p.V1361M|RP5-940J5.6_ENST00000501075.2_RNA			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1368					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TCTGAAGCCACTGAGTAATCG	0.502000													11	98					0	0	1	0	0
PCDH10	57575	broad.mit.edu	37	4	134072289	134072289	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:134072289G>T	ENST00000264360.4	+	1	1820	c.994G>T	c.(994-996)Gac>Tac	p.D332Y		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	332	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GCAAGCCAAGGACCTGGGCCC	0.592000													7	73					0.00198382	0.00230193	1	1	0
COL6A6	131873	broad.mit.edu	37	3	130284003	130284003	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:130284003A>T	ENST00000358511.6	+	3	858	c.827A>T	c.(826-828)gAg>gTg	p.E276V	COL6A6_ENST00000453409.2_Missense_Mutation_p.E276V	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	276	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TATAGCAATGAGACAAAAGTG	0.423000													19	86					0	0	1	0	0
SLIT1	6585	broad.mit.edu	37	10	98923185	98923185	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:98923185C>A	ENST00000266058.4	-	3	538	c.293G>T	c.(292-294)gGa>gTa	p.G98V	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.G98V|SLIT1_ENST00000371041.3_Missense_Mutation_p.G98V|SLIT1_ENST00000456008.2_5'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	98					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TTCCACTGCTCCAATCTGGTT	0.617000													21	171					8.10497e-08	1.26032e-07	1	1	0
CLK3	1198	broad.mit.edu	37	15	74918245	74918245	+	Silent	SNP	C	C	T	rs144212195	byFrequency	TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr15:74918245C>T	ENST00000395066.3	+	7	1658	c.1197C>T	c.(1195-1197)aaC>aaT	p.N399N	CLK3_ENST00000348245.3_3'UTR|CLK3_ENST00000352989.5_Silent_p.N228N|CLK3_ENST00000345005.4_Silent_p.N251N	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	399	Protein kinase.					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						AGGAGAATAACTTCCAGCCTT	0.527000													4	53					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118629544	118629544	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:118629544G>T	ENST00000336338.5	-	11	1512	c.1447C>A	c.(1447-1449)Cac>Aac	p.H483N		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	483						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GACACAATGTGAGCTGCGATT	0.502000													10	66					7.48243e-07	1.10552e-06	1	1	0
F13B	2165	broad.mit.edu	37	1	197029517	197029517	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:197029517G>C	ENST00000367412.1	-	5	827	c.784C>G	c.(784-786)Cca>Gca	p.P262A		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	262	Sushi 4.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						GGAGATTCTGGGTACCAACCA	0.333000													6	57					0	0	1	0	0
OR4D6	219983	broad.mit.edu	37	11	59224907	59224907	+	Silent	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:59224907C>T	ENST00000300127.2	+	1	497	c.474C>T	c.(472-474)atC>atT	p.I158I		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						ATTCAATCATCCAGGTAATTC	0.522000													8	122					0	0	1	0	0
PRAMEF10	343071	broad.mit.edu	37	1	12954995	12954995	+	Splice_Site	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:12954995C>G	ENST00000235347.4	-	3	367	c.287_splice	c.e3-1	p.R96_splice		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	96										NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTTTCCACCTCCTGTGAGTAA	0.532000													13	111					0	0	1	0	0
EIF3E	3646	broad.mit.edu	37	8	109215287	109215287	+	Silent	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:109215287G>T	ENST00000220849.5	-	12	1286	c.1224C>A	c.(1222-1224)acC>acA	p.T408T	EIF3E_ENST00000519030.1_Silent_p.T315T	NM_001568.2	NP_001559.1	P60228	EIF3E_HUMAN	eukaryotic translation initiation factor 3, subunit E	408	Sufficient for interaction with MCM7.				negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|eukaryotic translation initiation factor 3 complex|PML body	protein N-terminus binding		EIF3E/RSPO2(6)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			AAAGGCTTTTGGTCTTTTCAA	0.388000													7	61					8.12818e-05	0.000104036	1	1	0
ZNF493	284443	broad.mit.edu	37	19	21605835	21605835	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:21605835G>T	ENST00000392288.2	+	4	483	c.374G>T	c.(373-375)gGa>gTa	p.G125V	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_5'UTR|ZNF493_ENST00000596302.1_3'UTR	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	80					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						TTAAGAAAAGGATGTAAAAGT	0.328000													13	88					5.50884e-06	7.75287e-06	1	1	0
SLC18A3	6572	broad.mit.edu	37	10	50819260	50819260	+	Silent	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:50819260C>A	ENST00000374115.3	+	1	914	c.474C>A	c.(472-474)ggC>ggA	p.G158G	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	158					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						TGCTGATCGGCCTGGGCGTCA	0.647000													9	49					3.09899e-07	4.6688e-07	1	1	0
NIPA2	81614	broad.mit.edu	37	15	23006585	23006585	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr15:23006585A>T	ENST00000337451.3	-	8	1331	c.719T>A	c.(718-720)cTg>cAg	p.L240Q	NIPA2_ENST00000539711.2_Missense_Mutation_p.L221Q|NIPA2_ENST00000359727.4_Missense_Mutation_p.L221Q|NIPA2_ENST00000398013.3_Missense_Mutation_p.L240Q|NIPA2_ENST00000398014.2_Missense_Mutation_p.L240Q	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 2	240						early endosome|integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		GAATATATCCAGGGCCCTATT	0.423000													11	119					0	0	1	0	0
VIM	7431	broad.mit.edu	37	10	17277251	17277251	+	Silent	SNP	C	C	A	rs116696668	by1000genomes	TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:17277251C>A	ENST00000544301.1	+	7	1505	c.1092C>A	c.(1090-1092)cgC>cgA	p.R364R	VIM_ENST00000224237.5_Silent_p.R364R	NM_003380.3	NP_003371.2	P08670	VIME_HUMAN	vimentin	364	Coil 2.|Rod.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTATTGGCCGCCTGCAGGATG	0.483000													10	61					1.76689e-08	2.78999e-08	1	1	0
ZNF583	147949	broad.mit.edu	37	19	56935074	56935074	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:56935074G>C	ENST00000333201.9	+	5	1257	c.1047G>C	c.(1045-1047)gaG>gaC	p.E349D	ZNF583_ENST00000291598.7_Missense_Mutation_p.E349D|ZNF583_ENST00000585612.1_3'UTR	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	349					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		ATACAGGAGAGAAACCTTATG	0.408000													13	67					0	0	1	0	0
IGKV1D-12	28903	broad.mit.edu	37	2	90198979	90198979	+	RNA	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:90198979C>T	ENST00000390276.2	+	0	321																											ACTTGTCGGGCGAGTCAGGGT	0.512000													8	44					0	0	1	0	0
BACH2	60468	broad.mit.edu	37	6	90660226	90660226	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:90660226G>T	ENST00000257749.4	-	7	2306	c.1599C>A	c.(1597-1599)agC>agA	p.S533R	RP3-512E2.2_ENST00000413986.1_RNA|RP3-512E2.2_ENST00000445838.1_RNA|BACH2_ENST00000343122.3_Missense_Mutation_p.S533R|BACH2_ENST00000537989.1_Missense_Mutation_p.S533R	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	533						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)		GTGAGCCCCCGCTCCCGTCCT	0.622000													5	54					1.23904e-05	1.68943e-05	1	1	0
HTR3A	3359	broad.mit.edu	37	11	113856810	113856810	+	Silent	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:113856810G>A	ENST00000504030.2	+	6	1063	c.618G>A	c.(616-618)caG>caA	p.Q206Q	HTR3A_ENST00000506841.2_Silent_p.Q206Q|HTR3A_ENST00000375498.2_Silent_p.Q212Q|HTR3A_ENST00000535865.1_Intron|HTR3A_ENST00000299961.5_Silent_p.Q191Q|HTR3A_ENST00000355556.2_Silent_p.Q212Q			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	206					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	TCATGAACCAGGGAGAGTGGG	0.493000													40	123					0	0	1	0	0
GFRAL	389400	broad.mit.edu	37	6	55216298	55216298	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:55216298C>A	ENST00000340465.2	+	5	704	c.618C>A	c.(616-618)caC>caA	p.H206Q		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	206						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AAGCTCTTCACAGCAAGACAT	0.423000													13	72					0.00010058	0.000128558	1	1	0
MKI67	4288	broad.mit.edu	37	10	129914193	129914193	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:129914193T>C	ENST00000368654.3	-	7	854	c.479A>G	c.(478-480)aAg>aGg	p.K160R	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	160					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTTGACATTCTTGATATGTAC	0.393000													8	62					0	0	1	0	0
APCS	325	broad.mit.edu	37	1	159558474	159558474	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:159558474C>G	ENST00000255040.2	+	2	745	c.648C>G	c.(646-648)atC>atG	p.I216M		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	216	Pentaxin.				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					GATATGTCATCATCAAACCCT	0.468000													5	25					0	0	1	0	0
BAIAP2	10458	broad.mit.edu	37	17	79073836	79073836	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:79073836A>C	ENST00000321300.6	+	7	691	c.598A>C	c.(598-600)Aag>Cag	p.K200Q	BAIAP2_ENST00000428708.2_Missense_Mutation_p.K200Q|BAIAP2_ENST00000575245.1_Missense_Mutation_p.K233Q|BAIAP2_ENST00000435091.3_Missense_Mutation_p.K200Q|BAIAP2_ENST00000321280.7_Missense_Mutation_p.K200Q|BAIAP2_ENST00000575712.1_Missense_Mutation_p.K200Q|BAIAP2_ENST00000392411.3_Missense_Mutation_p.K122Q|BAIAP2_ENST00000416299.2_Missense_Mutation_p.K63Q	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	200	IMD.				axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CCTGGTGGAGAAGCAGTGCGC	0.647000													5	23					0	0	1	0	0
ZMAT4	79698	broad.mit.edu	37	8	40532359	40532359	+	Silent	SNP	A	A	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:40532359A>G	ENST00000297737.6	-	5	587	c.441T>C	c.(439-441)tgT>tgC	p.C147C	ZMAT4_ENST00000315769.7_Intron	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	147						nucleus	DNA binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			CACAGAGCCCACAGTATCTGT	0.498000													31	174					0	0	1	0	0
PRR23A	729627	broad.mit.edu	37	3	138724773	138724773	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:138724773C>T	ENST00000383163.2	-	1	337	c.338G>A	c.(337-339)gGa>gAa	p.G113E	MRPS22_ENST00000495075.1_5'UTR	NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN	proline rich 23A	113										endometrium(3)|kidney(1)|lung(7)	11						GTCCTGCGCTCCTGAGCGTTC	0.612000													4	16					0	0	1	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	105011206	105011206	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:105011206G>T	ENST00000372582.1	+	11	2369	c.1613G>T	c.(1612-1614)gGa>gTa	p.G538V	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.G538V|IL1RAPL2_ENST00000538500.1_Missense_Mutation_p.G143V	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	538	TIR.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AAGTGGAAGGGATCCAAAAGC	0.388000													14	53					9.31168e-06	1.29658e-05	1	1	0
GTF2IRD1	9569	broad.mit.edu	37	7	73933913	73933913	+	Silent	SNP	G	G	T	rs144465935	byFrequency	TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:73933913G>T	ENST00000476977.1	+	6	2471	c.780G>T	c.(778-780)acG>acT	p.T260T	GTF2IRD1_ENST00000265755.3_Silent_p.T260T|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000455841.2_Silent_p.T292T|GTF2IRD1_ENST00000424337.2_Silent_p.T260T			Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	260						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TGTACAGCACGGCGCTCCCCA	0.692000													4	35					0.00909568	0.00998677	1	1	0
FRMPD1	22844	broad.mit.edu	37	9	37740133	37740133	+	Silent	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:37740133C>A	ENST00000539465.1	+	15	2201	c.1608C>A	c.(1606-1608)ctC>ctA	p.L536L	FRMPD1_ENST00000536622.1_Silent_p.L358L|FRMPD1_ENST00000377765.3_Silent_p.L536L|FRMPD1_ENST00000541302.1_Silent_p.L405L|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	536						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		ACTGCGTACTCGAACCTCTCT	0.557000													6	67					0.00116845	0.00137844	1	1	0
NUP62	23636	broad.mit.edu	37	19	50412511	50412511	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:50412511G>T	ENST00000596217.1	-	2	2441	c.554C>A	c.(553-555)cCt>cAt	p.P185H	IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000413454.1_Missense_Mutation_p.P185H|NUP62_ENST00000422090.2_Missense_Mutation_p.P185H|NUP62_ENST00000597723.1_Missense_Mutation_p.P185H|NUP62_ENST00000597029.1_Missense_Mutation_p.P185H|NUP62_ENST00000352066.3_Missense_Mutation_p.P185H|IL4I1_ENST00000595948.1_Intron			P37198	NUP62_HUMAN	nucleoporin 62kDa	185	15 X 9 AA approximate repeats.|Ala-rich.|Thr-rich.				carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CAACGTGGCAGGTGCCGTGGG	0.632000													16	59					1.15088e-07	1.7657e-07	1	1	0
MTUS1	57509	broad.mit.edu	37	8	17579397	17579397	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:17579397C>A	ENST00000381861.3	-	1	333	c.14G>T	c.(13-15)gGa>gTa	p.G5V	MTUS1_ENST00000381869.3_Intron|MTUS1_ENST00000262102.6_Intron|MTUS1_ENST00000544260.1_Intron|MTUS1_ENST00000519263.1_Intron	NM_001001931.2	NP_001001931.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	0						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		GCGAAATCCTCCTGGTACAGT	0.418000													16	27					2.32078e-09	3.75493e-09	1	1	0
OR5W2	390148	broad.mit.edu	37	11	55681737	55681737	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:55681737C>A	ENST00000344514.1	-	1	321	c.322G>T	c.(322-324)Gca>Tca	p.A108S		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	108					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						TCAGAATCTGCAAAGATACAG	0.473000													15	53					1.05317e-09	1.71303e-09	1	1	0
VCL	7414	broad.mit.edu	37	10	75854095	75854095	+	Silent	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:75854095G>T	ENST00000211998.4	+	11	1513	c.1419G>T	c.(1417-1419)ctG>ctT	p.L473L	VCL_ENST00000417648.2_Intron|VCL_ENST00000478896.2_Intron|VCL_ENST00000372755.3_Silent_p.L473L	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	473	3 X 112 AA tandem repeats.|N-terminal globular head.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					TGCAGAACCTGCAGACCAAAA	0.557000													4	19					0.150653	0.155562	1	1	0
CD93	22918	broad.mit.edu	37	20	23065565	23065565	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr20:23065565C>G	ENST00000246006.4	-	1	1412	c.1265G>C	c.(1264-1266)gGg>gCg	p.G422A		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	422	EGF-like 4; calcium-binding (Potential).				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCACTGAGTCCCGTCCTCCCC	0.647000													10	50					0	0	1	0	0
ATXN2	6311	broad.mit.edu	37	12	111948253	111948253	+	Silent	SNP	A	A	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:111948253A>T	ENST00000377617.3	-	12	2333	c.2172T>A	c.(2170-2172)atT>atA	p.I724I	ATXN2_ENST00000550104.1_Silent_p.I724I|ATXN2_ENST00000389153.4_Silent_p.I459I|ATXN2_ENST00000542287.2_Silent_p.I459I|ATXN2_ENST00000535949.1_Silent_p.I435I	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	724	Pro-rich.				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						ATGCAGCTGGAATAGGCATGG	0.502000													14	108					0	0	1	0	0
MARCKS	4082	broad.mit.edu	37	6	114181714	114181714	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:114181714G>T	ENST00000368635.4	+	2	1339	c.958G>T	c.(958-960)Gag>Tag	p.E320*		NM_002356.5	NP_002347.5	P29966	MARCS_HUMAN	myristoylated alanine-rich protein kinase C substrate	320					energy reserve metabolic process|regulation of insulin secretion	actin cytoskeleton|plasma membrane	actin filament binding|calmodulin binding			breast(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(87;7.65e-05)|all_epithelial(87;0.000296)|all_hematologic(75;0.0172)|Colorectal(196;0.0317)|all_lung(197;0.198)		Epithelial(106;1.59e-07)|all cancers(137;9.85e-07)|OV - Ovarian serous cystadenocarcinoma(136;0.000322)		GGCCCAGCCCGAGTGCAGTCC	0.672000													7	33					0.0293803	0.0312145	1	1	0
KCNV1	27012	broad.mit.edu	37	8	110980738	110980738	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:110980738G>C	ENST00000524391.1	-	4	2114	c.1082C>G	c.(1081-1083)tCa>tGa	p.S361*	KCNV1_ENST00000297404.1_Nonsense_Mutation_p.S361*			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	361						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			TTCTACAGTTGAAAATATAGA	0.478000													6	52					0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140476414	140476414	+	Silent	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:140476414G>T	ENST00000194155.4	+	1	2188	c.2040G>T	c.(2038-2040)ccG>ccT	p.P680P		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		680					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGCGGCACCGGCCCAGGCCC	0.692000													23	107					1.10513e-12	1.85332e-12	1	1	0
DTWD1	56986	broad.mit.edu	37	15	49924488	49924488	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr15:49924488A>C	ENST00000251250.6	+	4	604	c.397A>C	c.(397-399)Aag>Cag	p.K133Q	DTWD1_ENST00000403028.3_Missense_Mutation_p.K133Q|DTWD1_ENST00000559223.1_3'UTR|DTWD1_ENST00000415425.1_Missense_Mutation_p.K46Q|DTWD1_ENST00000558653.1_Missense_Mutation_p.K133Q	NM_020234.5	NP_064619.2	Q8N5C7	DTWD1_HUMAN	DTW domain containing 1	133										endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;0.0384)		all cancers(107;3.27e-08)|GBM - Glioblastoma multiforme(94;7.6e-05)		ATATGAAGAAAAGGACCATGA	0.323000													4	29					0	0	1	0	0
SLC7A3	84889	broad.mit.edu	37	X	70148007	70148007	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:70148007T>C	ENST00000374299.3	-	5	952	c.808A>G	c.(808-810)Att>Gtt	p.I270V	SLC7A3_ENST00000298085.4_Missense_Mutation_p.I270V			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	270					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GTGGTAGCAATACAGTCGAAA	0.542000													5	8					0	0	1	0	0
CDC23	8697	broad.mit.edu	37	5	137534413	137534413	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:137534413T>A	ENST00000394886.2	-	7	743	c.713A>T	c.(712-714)tAc>tTc	p.Y238F		NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	238					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CAACTCTGTGTATATATGAGC	0.433000													14	86					0	0	1	0	0
RBPJL	11317	broad.mit.edu	37	20	43944845	43944845	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr20:43944845G>T	ENST00000343694.3	+	10	1111	c.1039G>T	c.(1039-1041)Gag>Tag	p.E347*	RBPJL_ENST00000372743.1_Nonsense_Mutation_p.E347*|RBPJL_ENST00000372741.3_Nonsense_Mutation_p.E347*|RBPJL_ENST00000464504.1_Intron	NM_014276.2	NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	347					signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				CTGCCCCAAGGAGGCGAACAG	0.627000													5	30					0.014758	0.0159185	1	1	0
TRIM69	140691	broad.mit.edu	37	15	45047302	45047302	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr15:45047302C>A	ENST00000559390.1	+	3	1139	c.211C>A	c.(211-213)Ctg>Atg	p.L71M	TRIM69_ENST00000558329.1_Intron|TRIM69_ENST00000558173.1_5'UTR|TRIM69_ENST00000561043.1_Intron|TRIM69_ENST00000338264.4_Intron|TRIM69_ENST00000329464.4_Missense_Mutation_p.L71M|TRIM69_ENST00000560442.1_Intron			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	71	Necessary for nuclear localization (By similarity).				apoptosis	nuclear speck	zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		CTTTTGGAGGCTGCAAGCAAA	0.458000													16	83					0.00316338	0.00363393	1	1	0
PCLO	27445	broad.mit.edu	37	7	82544059	82544059	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:82544059C>A	ENST00000423517.2	-	7	13580	c.13243G>T	c.(13243-13245)Gac>Tac	p.D4415Y	PCLO_ENST00000437081.1_Missense_Mutation_p.D1135Y|PCLO_ENST00000333891.8_Missense_Mutation_p.D4415Y	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4346					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATGTCACGGTCATAGCCTCGA	0.468000													3	23					1	1	1	1	0
TSN	7247	broad.mit.edu	37	2	122522771	122522771	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:122522771C>G	ENST00000389682.3	+	6	762	c.515C>G	c.(514-516)aCc>aGc	p.T172S	TSN_ENST00000498545.1_3'UTR|TSN_ENST00000536142.1_Missense_Mutation_p.H145Q|TSN_ENST00000409193.1_Missense_Mutation_p.T167S	NM_001261401.1|NM_004622.2	NP_001248330.1|NP_004613.1	Q15631	TSN_HUMAN	translin	172					DNA recombination	cytoplasm|nucleus	sequence-specific DNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)|skin(1)	12		Ovarian(717;0.0563)|Prostate(154;0.116)				CACATCTCCACCTTCATCAAT	0.493000													9	171					0	0	1	0	0
SOWAHB	345079	broad.mit.edu	37	4	77817743	77817743	+	Silent	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:77817743T>C	ENST00000334306.2	-	1	1259	c.1260A>G	c.(1258-1260)gaA>gaG	p.E420E		NM_001029870.1	NP_001025041.1	A6NEL2	ANR56_HUMAN	sosondowah ankyrin repeat domain family member B	420																	GCAGCCCCTCTTCAGAAGCCC	0.607000													13	64					0	0	1	0	0
CLU	1191	broad.mit.edu	37	8	27463875	27463875	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:27463875C>A	ENST00000316403.10	-	4	818	c.413G>T	c.(412-414)cGc>cTc	p.R138L	CLU_ENST00000405140.3_Missense_Mutation_p.R138L|CLU_ENST00000523500.1_Missense_Mutation_p.R138L|CLU_ENST00000546343.1_Missense_Mutation_p.R149L|CLU_ENST00000560366.1_Missense_Mutation_p.R190L			P10909	CLUS_HUMAN	clusterin	138					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		TTTCACCTGGCGGCCAACCAG	0.552000													14	37					9.31168e-06	1.29658e-05	1	1	0
KCNJ16	3773	broad.mit.edu	37	17	68128152	68128152	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:68128152C>G	ENST00000585558.1	+	4	417	c.29C>G	c.(28-30)cCa>cGa	p.P10R	KCNJ16_ENST00000392670.1_5'UTR|KCNJ16_ENST00000283936.1_5'UTR|KCNJ16_ENST00000586462.1_Missense_Mutation_p.P14R|KCNJ16_ENST00000589377.1_5'UTR|KCNJ16_ENST00000392671.1_5'UTR			Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	0					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					ACTGAAAACCCAAACCAAGAA	0.373000													3	8					0	0	1	0	0
OR5D13	390142	broad.mit.edu	37	11	55541282	55541282	+	Silent	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:55541282C>T	ENST00000361760.1	+	1	369	c.369C>T	c.(367-369)gaC>gaT	p.D123D		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TGGCTTATGACCGTTTTGTGG	0.428000													20	136					0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140588845	140588845	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:140588845G>T	ENST00000239450.2	+	1	555	c.366G>T	c.(364-366)caG>caT	p.Q122H	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		122	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTGAGCTCCAGGTCAGGGATA	0.443000													7	72					2.7689e-08	4.35722e-08	1	1	0
TF	7018	broad.mit.edu	37	3	133473404	133473404	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:133473404C>A	ENST00000402696.3	+	4	876	c.391C>A	c.(391-393)Ctt>Att	p.L131I	TF_ENST00000475382.1_3'UTR|TF_ENST00000264998.3_Missense_Mutation_p.L4I|TFP1_ENST00000460564.1_RNA	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN	transferrin	131	Transferrin-like 1.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	GATGAACCAGCTTCGAGGCAA	0.522000													30	131					2.12542e-12	3.55138e-12	1	1	0
KIAA1456	57604	broad.mit.edu	37	8	12870299	12870299	+	Silent	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:12870299C>A	ENST00000524591.2	+	4	750	c.261C>A	c.(259-261)gcC>gcA	p.A87A	KIAA1456_ENST00000447063.2_Silent_p.A87A	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN	KIAA1456	87							methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						GATGTGAAGCCATGGTATGTG	0.498000													16	25					1.3612e-06	2.00472e-06	1	1	0
COL7A1	1294	broad.mit.edu	37	3	48610629	48610629	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:48610629G>A	ENST00000328333.8	-	84	6799	c.6692C>T	c.(6691-6693)cCc>cTc	p.P2231L	COL7A1_ENST00000454817.1_Missense_Mutation_p.P2199L	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2231	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGGGCCGGGGGGTCCAGGAAG	0.602000													7	27					0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	98157300	98157300	+	Silent	SNP	A	A	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:98157300A>T	ENST00000370192.3	-	7	835	c.735T>A	c.(733-735)atT>atA	p.I245I	DPYD_ENST00000423006.2_3'UTR|DPYD_ENST00000474241.1_5'UTR	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	245					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TCATTAGCTCAATCTCAAAAT	0.373000													4	33					0	0	1	0	0
GFM2	84340	broad.mit.edu	37	5	74034158	74034158	+	Silent	SNP	A	A	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:74034158A>T	ENST00000296805.3	-	14	1762	c.1305T>A	c.(1303-1305)acT>acA	p.T435T	GFM2_ENST00000427854.2_Silent_p.T435T|GFM2_ENST00000509430.1_Silent_p.T435T|GFM2_ENST00000345239.2_Silent_p.T388T	NM_032380.3	NP_115756.2	Q969S9	RRF2M_HUMAN	G elongation factor, mitochondrial 2	435					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		TAAGCCCAACAGTCAAAGCAA	0.348000													11	57					0	0	1	0	0
CES2	8824	broad.mit.edu	37	16	66975088	66975088	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr16:66975088G>A	ENST00000317091.4	+	6	2054	c.1070G>A	c.(1069-1071)cGg>cAg	p.R357Q	CES2_ENST00000417689.1_Missense_Mutation_p.R357Q	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	293					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		GGCTGCCTGCGGGGCAAGAGT	0.572000													5	35					0	0	1	0	0
GCM1	8521	broad.mit.edu	37	6	52995701	52995701	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:52995701G>A	ENST00000259803.7	-	5	681	c.470C>T	c.(469-471)cCa>cTa	p.P157L		NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	157						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					CTTGGTTTCTGGTTTTGGATG	0.438000													7	51					0	0	1	0	0
BCAS1	8537	broad.mit.edu	37	20	52611551	52611551	+	Splice_Site	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr20:52611551C>A	ENST00000395961.3	-	6	1093	c.927_splice	c.e6+1	p.T309_splice	BCAS1_ENST00000434986.2_Splice_Site_p.T22_splice|BCAS1_ENST00000371435.2_Splice_Site_p.T309_splice|BCAS1_ENST00000371440.3_Splice_Site_p.T309_splice	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	309						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			AACTACCTACCGTGTCTTCTG	0.348000													20	81					3.99206e-14	6.73156e-14	1	1	0
MSANTD3	91283	broad.mit.edu	37	9	103204404	103204404	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:103204404G>C	ENST00000395067.2	+	2	455	c.184G>C	c.(184-186)Gtg>Ctg	p.V62L	MSANTD3_ENST00000374885.1_Missense_Mutation_p.V62L	NM_001198805.1|NM_001198806.1|NM_080655.2	NP_001185734.1|NP_001185735.1|NP_542386.1			Myb/SANT-like DNA-binding domain containing 3											endometrium(2)|lung(2)	4						TCAGCCCAGCGTGTCCCTGCG	0.493000													9	30					0	0	1	0	0
SLC25A3	5250	broad.mit.edu	37	12	98989533	98989533	+	Silent	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:98989533G>A	ENST00000188376.5	+	2	540	c.186G>A	c.(184-186)aaG>aaA	p.K62K	SLC25A3_ENST00000547534.1_Silent_p.K62K|SLC25A3_ENST00000228318.3_Intron|SLC25A3_ENST00000552981.1_Silent_p.K62K|SLC25A3_ENST00000551917.1_Intron|SLC25A3_ENST00000549338.1_Silent_p.K62K|SLC25A3_ENST00000548847.1_Silent_p.K62K|SLC25A3_ENST00000401722.3_Silent_p.K62K	NM_002635.3|NM_213611.2	NP_002626.1|NP_998776.1	Q00325	MPCP_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3	63					generation of precursor metabolites and energy	integral to plasma membrane|mitochondrial inner membrane	phosphate carrier activity|symporter activity			breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		GCTCCGCGAAGTATTATGCAC	0.433000													4	66					0	0	1	0	0
HTR5A	3361	broad.mit.edu	37	7	154875955	154875955	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:154875955C>T	ENST00000287907.2	+	2	1408	c.832C>T	c.(832-834)Cag>Tag	p.Q278*	HTR5A_ENST00000486819.1_3'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	278						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		GTGGCGGGAGCAGAAGGAGCA	0.612000													5	53					0	0	1	0	0
TRIM49	57093	broad.mit.edu	37	11	89537433	89537433	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:89537433G>A	ENST00000329758.1	-	3	533	c.205C>T	c.(205-207)Cat>Tat	p.H69Y	TRIM49_ENST00000532501.2_Missense_Mutation_p.H69Y	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49	69						intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TTCTTCAAATGAATGTTGGTT	0.458000													4	55					0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149226129	149226129	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:149226129G>A	ENST00000407073.1	+	9	1614	c.617G>A	c.(616-618)aGt>aAt	p.S206N	MBD5_ENST00000404807.1_Missense_Mutation_p.S206N	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	206						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TTGGGCAGCAGTGAACATGGA	0.522000													5	86					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32635060	32635060	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:32635060G>A	ENST00000242310.4	-	1	607	c.518C>T	c.(517-519)gCt>gTt	p.A173V	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	173					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		ACAGGTAATAGCATCTTGGTC	0.463000													17	44					0	0	1	0	0
ZSWIM4	65249	broad.mit.edu	37	19	13919658	13919658	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:13919658G>C	ENST00000254323.2	+	4	910	c.721G>C	c.(721-723)Gac>Cac	p.D241H	ZSWIM4_ENST00000440752.2_5'UTR	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	241							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			AGGTGCCCCAGACCCCACCGC	0.592000													3	8					0	0	1	0	0
PLCB2	5330	broad.mit.edu	37	15	40591370	40591370	+	Silent	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr15:40591370G>A	ENST00000260402.3	-	8	891	c.642C>T	c.(640-642)agC>agT	p.S214S	PLCB2_ENST00000456256.2_Silent_p.S214S|PLCB2_ENST00000557821.1_Silent_p.S214S	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	214					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		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;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GAGGACAGAGGCTCATGAGGA	0.498000													5	44					0	0	1	0	0
HIST1H3B	8358	broad.mit.edu	37	6	26031973	26031973	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:26031973C>T	ENST00000244661.2	-	1	315	c.316G>A	c.(316-318)Gag>Aag	p.E106K		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	106					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						TTTGTGTCCTCAAAGAGCCCT	0.542000													6	38					0	0	1	0	0
HNF4A	3172	broad.mit.edu	37	20	43043208	43043208	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr20:43043208C>T	ENST00000316099.3	+	5	643	c.554C>T	c.(553-555)gCa>gTa	p.A185V	HNF4A_ENST00000415691.1_Missense_Mutation_p.A185V|HNF4A_ENST00000457232.1_Missense_Mutation_p.A163V|HNF4A_ENST00000443598.2_Missense_Mutation_p.A185V	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	185					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GCCAGCATCGCAGATGTGTGT	0.572000													4	20					0	0	1	0	0
ERCC3	2071	broad.mit.edu	37	2	128030530	128030530	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:128030530T>C	ENST00000493187.2	-	11	2009	c.1546A>G	c.(1546-1548)Atc>Gtc	p.I516V	ERCC3_ENST00000285398.2_Missense_Mutation_p.I580V			P19447	ERCC3_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 3	580					cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		GGTCCGTAGATATAGGGTCTA	0.433000			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				4	32					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101717900	101717900	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr13:101717900G>T	ENST00000251127.6	-	40	4541	c.4460C>A	c.(4459-4461)aCg>aAg	p.T1487K		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1487						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GACGCGGAACGTGGGGATCAC	0.517000													6	42					2.0095e-06	2.90366e-06	1	1	0
MYO1H	283446	broad.mit.edu	37	12	109882284	109882284	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:109882284A>T	ENST00000310903.5	+	30	3001	c.2895A>T	c.(2893-2895)aaA>aaT	p.K965N	MYO1H_ENST00000431443.2_Missense_Mutation_p.K975N			B4DNW6	B4DNW6_HUMAN	myosin IH	156						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						CAGTTACTAAACTCGTCATGC	0.428000													4	34					0	0	1	0	0
OR4F6	390648	broad.mit.edu	37	15	102346367	102346367	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr15:102346367T>C	ENST00000328882.4	+	1	466	c.445T>C	c.(445-447)Tgg>Cgg	p.W149R		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			AGTCATTTCCTGGATTATAGG	0.408000													14	192					0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31595641	31595641	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:31595641G>A	ENST00000376033.2	+	12	1624	c.1390G>A	c.(1390-1392)Gtg>Atg	p.V464M	PRRC2A_ENST00000376007.4_Missense_Mutation_p.V464M	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	464	2 X type B repeats.|4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TTCCCTGGCAGTGGAGCGGGC	0.622000													9	59					0	0	1	0	0
CXorf21	80231	broad.mit.edu	37	X	30577868	30577868	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:30577868T>C	ENST00000378962.3	-	3	927	c.605A>G	c.(604-606)cAg>cGg	p.Q202R		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	202										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						AATAGGATTCTGCATTTGCAA	0.408000													17	37					0	0	1	0	0
LHCGR	3973	broad.mit.edu	37	2	48915725	48915725	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:48915725G>A	ENST00000294954.7	-	11	1232	c.1211C>T	c.(1210-1212)gCa>gTa	p.A404V	LHCGR_ENST00000403273.1_Intron|LHCGR_ENST00000401907.1_Intron|LHCGR_ENST00000344775.3_Missense_Mutation_p.A342V|LHCGR_ENST00000405626.1_Missense_Mutation_p.A377V|STON1-GTF2A1L_ENST00000402114.2_Intron	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	404					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	GCAAAAGTCTGCAAAGGAGAG	0.458000													6	50					0	0	1	0	0
INSR	3643	broad.mit.edu	37	19	7120746	7120746	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:7120746T>C	ENST00000341500.5	-	19	3547	c.3508A>G	c.(3508-3510)Aga>Gga	p.R1170G	INSR_ENST00000302850.5_Missense_Mutation_p.R1182G	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	1182	Protein kinase.				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TAGATGTCTCTGGTCATTCCA	0.542000													8	65					0	0	1	0	0
TRIM51	84767	broad.mit.edu	37	11	55653619	55653619	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:55653619G>C	ENST00000449290.2	+	3	524	c.432G>C	c.(430-432)atG>atC	p.M144I	TRIM51_ENST00000244891.3_Start_Codon_SNP_p.M1I	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	144						intracellular	zinc ion binding										TAAAAAAAATGCAGTCTTTAT	0.403000													5	22					0	0	1	0	0
SLC17A8	246213	broad.mit.edu	37	12	100797818	100797818	+	Silent	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:100797818G>T	ENST00000323346.5	+	9	1369	c.1056G>T	c.(1054-1056)gtG>gtT	p.V352V	SLC17A8_ENST00000392989.3_Silent_p.V302V	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	352					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						CCTTCCAGGTGGGTCTCTTGT	0.463000													5	38					0.014758	0.0159185	1	1	0
DOCK1	1793	broad.mit.edu	37	10	128829949	128829949	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:128829949T>C	ENST00000280333.6	+	17	1706	c.1597T>C	c.(1597-1599)Ttt>Ctt	p.F533L		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	533	DHR-1.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TGCACTAGCATTTGTCAAGCT	0.353000													16	47					0	0	1	0	0
RP11-44F14.1	0	broad.mit.edu	37	16	53404855	53404855	+	RNA	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr16:53404855C>T	ENST00000565421.1	-	0	186																											CTCAAATTTGCTTGAGTTTCT	0.453000													4	26					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70504981	70504981	+	Silent	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:70504981G>A	ENST00000310961.5	+	22	3793	c.3375G>A	c.(3373-3375)gtG>gtA	p.V1125V	LRRC7_ENST00000415775.2_Silent_p.V404V|LRRC7_ENST00000035383.5_Silent_p.V1120V			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1120						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						ACTCCCTGGTGAGCGCCACAG	0.577000													13	86					0	0	1	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102312119	102312119	+	RNA	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr15:102312119C>A	ENST00000561463.1	+	0	13487																											CCTCCCCTGCCCCTGCCTGCC	0.627000													8	48					1.06961e-07	1.64929e-07	1	1	0
KCNT2	343450	broad.mit.edu	37	1	196303149	196303149	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:196303149C>A	ENST00000367433.5	-	17	1926	c.1825G>T	c.(1825-1827)Gca>Tca	p.A609S	KCNT2_ENST00000367431.4_Missense_Mutation_p.A559S|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_Missense_Mutation_p.A220S|KCNT2_ENST00000294725.8_Missense_Mutation_p.A609S			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	609						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GGGCCACTTGCTGATCTACAG	0.403000													6	15					0.00116845	0.00137844	1	1	0
KL	9365	broad.mit.edu	37	13	33638153	33638153	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr13:33638153G>A	ENST00000380099.3	+	5	2877	c.2869G>A	c.(2869-2871)Gaa>Aaa	p.E957K	KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	957					aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CCCGGGCCCAGAAACTCTGGA	0.428000													12	68					0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559491	140559491	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:140559491C>G	ENST00000239444.2	+	1	2121	c.1876C>G	c.(1876-1878)Cgc>Ggc	p.R626G		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		626	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGCGAGGTGCGCACCGCCAG	0.701000													12	45					0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	56006615	56006615	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:56006615A>C	ENST00000244728.5	-	12	1907	c.1510T>G	c.(1510-1512)Tac>Gac	p.Y504D	COL21A1_ENST00000370819.1_Missense_Mutation_p.Y501D|COL21A1_ENST00000535941.1_Missense_Mutation_p.Y504D	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	504	Collagen-like 1.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TCTCCTTTGTAACCTGGTAGT	0.343000													5	33					0	0	1	0	0
CTIF	9811	broad.mit.edu	37	18	46287933	46287933	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr18:46287933G>C	ENST00000256413.3	+	9	1539	c.1244G>C	c.(1243-1245)cGc>cCc	p.R415P	CTIF_ENST00000382998.4_Missense_Mutation_p.R417P	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	415	MIF4G.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding	p.R415P(1)|p.R415L(1)|p.R367P(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						GAGATCGTGCGCACAATCTAC	0.592000													5	36					0	0	1	0	0
ANKFN1	162282	broad.mit.edu	37	17	54428209	54428209	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:54428209A>G	ENST00000566473.2	+	4	280	c.280A>G	c.(280-282)Aac>Gac	p.N94D	ANKFN1_ENST00000318698.2_Missense_Mutation_p.N94D			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	94										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						CTCATCTCCCAACGCAGCCAA	0.453000													6	38					0	0	1	0	0
PKNOX2	63876	broad.mit.edu	37	11	125299947	125299947	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:125299947C>T	ENST00000298282.9	+	12	1373	c.1102C>T	c.(1102-1104)Cag>Tag	p.Q368*	PKNOX2_ENST00000530517.1_3'UTR|PKNOX2_ENST00000542175.1_Nonsense_Mutation_p.Q304*	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	368						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		GATCAAGTCTCAGCACCGGCC	0.617000													6	81					0	0	1	0	0
LOC101927079	101927079	broad.mit.edu	37	15	22332452	22332452	+	RNA	SNP	T	T	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr15:22332452T>A	ENST00000558896.1	+	0	259																											CTTGTTCTTCTGGGCCTATCA	0.358000													10	142					0	0	1	0	0
DENND2C	163259	broad.mit.edu	37	1	115167942	115167942	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:115167942C>T	ENST00000393274.1	-	4	1289	c.664G>A	c.(664-666)Gaa>Aaa	p.E222K	DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393277.1_Missense_Mutation_p.E222K|DENND2C_ENST00000393276.3_Missense_Mutation_p.E222K	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	222										NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-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)		ACACCAGATTCGGATAAATAT	0.393000													9	49					0	0	1	0	0
GLYR1	84656	broad.mit.edu	37	16	4873864	4873864	+	Silent	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr16:4873864G>A	ENST00000321919.9	-	6	658	c.582C>T	c.(580-582)gcC>gcT	p.A194A	GLYR1_ENST00000436648.5_Silent_p.A113A|GLYR1_ENST00000586901.1_5'UTR|GLYR1_ENST00000381983.3_Silent_p.A194A|GLYR1_ENST00000591451.1_Silent_p.A194A	NM_032569.3	NP_115958.2	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	194					pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						CCATCGGTCCGGCCATCATCC	0.557000													30	58					0	0	1	0	0
KLHL1	57626	broad.mit.edu	37	13	70549780	70549780	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr13:70549780C>A	ENST00000377844.4	-	2	1411	c.652G>T	c.(652-654)Gtt>Ttt	p.V218F	KLHL1_ENST00000545028.1_Intron	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	218	BTB.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CGGTTCCCAACAATCAGGATA	0.418000													9	53					0.00448238	0.00513629	1	1	0
MTMR12	54545	broad.mit.edu	37	5	32243655	32243655	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:32243655C>A	ENST00000382142.3	-	11	1242	c.1072G>T	c.(1072-1074)Gaa>Taa	p.E358*	MTMR12_ENST00000264934.5_Nonsense_Mutation_p.E358*|MTMR12_ENST00000280285.5_Nonsense_Mutation_p.E358*	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	358	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						CTGCTACTTTCCAACAGAGAA	0.343000													7	34					2.0095e-06	2.90366e-06	1	1	0
CDR1	1038	broad.mit.edu	37	X	139865977	139865977	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:139865977C>A	ENST00000370532.2	-	1	746	c.555G>T	c.(553-555)tgG>tgT	p.W185C		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	185	5 X 6 AA approximate repeats.									breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				TCCATGTCTTCCAGAAAATCC	0.443000													27	95					7.92952e-12	1.32255e-11	1	1	0
AKR1B15	441282	broad.mit.edu	37	7	134254248	134254248	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:134254248C>A	ENST00000457545.2	+	5	662	c.402C>A	c.(400-402)gaC>gaA	p.D134E	AKR1B15_ENST00000423958.1_Missense_Mutation_p.D106E	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	134							oxidoreductase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						GCTATCTGGACGTCTATCTTA	0.502000													7	72					8.12818e-05	0.000104036	1	1	0
ENAM	10117	broad.mit.edu	37	4	71507981	71507981	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:71507981G>T	ENST00000396073.3	+	9	1119	c.838G>T	c.(838-840)Ggg>Tgg	p.G280W	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	280					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			ACTAAACACTGGGAACAACCC	0.532000													6	58					0.00116845	0.00137844	1	1	0
CDC26	246184	broad.mit.edu	37	9	116029554	116029554	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:116029554G>A	ENST00000374206.3	-	4	605	c.247C>T	c.(247-249)Ctt>Ttt	p.L83F	CDC26_ENST00000490408.1_Intron	NM_139286.3	NP_644815.1	Q8NHZ8	CDC26_HUMAN	cell division cycle 26	83					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm											TAAAATTCAAGACTTCCAAAT	0.418000													9	61					0	0	1	0	0
STYK1	55359	broad.mit.edu	37	12	10787181	10787181	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:10787181T>G	ENST00000075503.3	-	3	557	c.37A>C	c.(37-39)Agt>Cgt	p.S13R		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	13						integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						AACTTGTCACTGAGACTGCAT	0.493000										HNSCC(73;0.22)			6	38					0	0	1	0	0
HTR2A	3356	broad.mit.edu	37	13	47409465	47409465	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr13:47409465C>G	ENST00000378688.4	-	3	1054	c.923G>C	c.(922-924)gGc>gCc	p.G308A	HTR2A_ENST00000543956.1_Missense_Mutation_p.G224A|HTR2A_ENST00000542664.1_Missense_Mutation_p.G308A			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	308					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	AGTCCTCCTGCCTGTGTAGGA	0.517000													11	33					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13906601	13906601	+	Silent	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:13906601G>T	ENST00000279593.3	-	3	869	c.660C>A	c.(658-660)ctC>ctA	p.L220L		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	220					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GAAGTTTCTTGAGCTGATTCT	0.493000													7	73					2.0095e-06	2.90366e-06	1	1	0
BLOC1S5-TXNDC5	100526836	broad.mit.edu	37	6	7884682	7884682	+	Silent	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:7884682T>C	ENST00000539054.1	-	9	869	c.870A>G	c.(868-870)gaA>gaG	p.E290E	TXNDC5_ENST00000379757.4_Silent_p.E362E|BLOC1S5-TXNDC5_ENST00000604490.1_Silent_p.E254E|TXNDC5_ENST00000473453.1_Silent_p.E254E																							TTTTAGAGAGTTCCTCCCAAG	0.493000													6	28					0	0	1	0	0
KRT83	3889	broad.mit.edu	37	12	52710790	52710790	+	Silent	SNP	T	T	C	rs143202217	byFrequency	TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:52710790T>C	ENST00000293670.3	-	5	830	c.768A>G	c.(766-768)caA>caG	p.Q256Q		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	256	Coil 1B.|Rod.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		AGATGTGGGATTGGAGAATGC	0.522000													8	64					0	0	1	0	0
GRIK5	2901	broad.mit.edu	37	19	42566966	42566966	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:42566966G>T	ENST00000262895.3	-	3	285	c.286C>A	c.(286-288)Ccc>Acc	p.P96T	GRIK5_ENST00000593562.1_Missense_Mutation_p.P96T|GRIK5_ENST00000301218.4_Missense_Mutation_p.P96T	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	96						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	CTAGAGGAGGGCCCAAGGACA	0.627000													6	33					0.00116845	0.00137844	1	1	0
MLPH	79083	broad.mit.edu	37	2	238457904	238457904	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:238457904A>G	ENST00000264605.3	+	14	1952	c.1658A>G	c.(1657-1659)aAt>aGt	p.N553S	MLPH_ENST00000445024.2_3'UTR|MLPH_ENST00000338530.4_Missense_Mutation_p.N525S|MLPH_ENST00000410032.1_Missense_Mutation_p.N410S|MLPH_ENST00000409373.1_Missense_Mutation_p.N433S	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	553							metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		AAGTTCAGTAATTCCCTGAAA	0.498000													4	42					0	0	1	0	0
LOXL3	84695	broad.mit.edu	37	2	74761258	74761258	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:74761258G>T	ENST00000264094.3	-	12	2116	c.2045C>A	c.(2044-2046)aCg>aAg	p.T682K	LOXL3_ENST00000409549.1_Missense_Mutation_p.T626K|LOXL3_ENST00000409986.1_Missense_Mutation_p.T537K|LOXL3_ENST00000409249.1_Missense_Mutation_p.T400K|LOXL3_ENST00000393937.2_Missense_Mutation_p.T537K	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	682	Lysyl-oxidase like.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						CTTCACATCCGTGATGTCAAT	0.522000													5	51					0.184627	0.188945	1	1	0
ASPH	444	broad.mit.edu	37	8	62430612	62430612	+	Silent	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:62430612T>C	ENST00000541428.1	-	23	2044	c.1884A>G	c.(1882-1884)acA>acG	p.T628T	ASPH_ENST00000379454.4_Silent_p.T657T	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	657					muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	TGCATCCTGTTGTCTCGGGGA	0.398000													5	77					0	0	1	0	0
SLC35E4	339665	broad.mit.edu	37	22	31032537	31032537	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr22:31032537C>T	ENST00000343605.4	+	1	899	c.100C>T	c.(100-102)Ccc>Tcc	p.P34S	SLC35E4_ENST00000300385.8_Missense_Mutation_p.P34S|SLC35E4_ENST00000406566.1_Missense_Mutation_p.P34S	NM_001001479.2	NP_001001479.1	Q6ICL7	S35E4_HUMAN	solute carrier family 35, member E4	34						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						CCCCGAGTGGCCCCCTGGCAG	0.706000													4	4					0	0	1	0	0
CCDC148	130940	broad.mit.edu	37	2	159196817	159196817	+	Silent	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:159196817C>T	ENST00000283233.5	-	5	736	c.423G>A	c.(421-423)caG>caA	p.Q141Q	CCDC148_ENST00000409187.1_Silent_p.Q150Q|CCDC148_ENST00000409889.1_Silent_p.Q141Q|CCDC148_ENST00000536771.1_Silent_p.Q55Q	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	141										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						AAGTGTGATGCTGTCTGTATT	0.348000													11	44					0	0	1	0	0
KCNH2	3757	broad.mit.edu	37	7	150648112	150648112	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:150648112C>G	ENST00000392968.2	-	6	2874	c.1754G>C	c.(1753-1755)cGg>cCg	p.R585P	KCNH2_ENST00000330883.4_Missense_Mutation_p.R341P|KCNH2_ENST00000430723.3_Missense_Mutation_p.R681P|KCNH2_ENST00000262186.5_Missense_Mutation_p.R681P			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	681			W -> C (in LQT2).		blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GATGAACTCCCGCACCCGCAG	0.617000													4	35					0	0	1	0	0
CHSY3	337876	broad.mit.edu	37	5	129520044	129520044	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:129520044C>A	ENST00000305031.4	+	3	1567	c.1209C>A	c.(1207-1209)taC>taA	p.Y403*	CHSY3_ENST00000507545.1_3'UTR	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	403						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)		CATACCAATACAGGCTGCATA	0.458000													10	46					2.17888e-05	2.95337e-05	1	1	0
CTAGE9	643854	broad.mit.edu	37	6	132029995	132029995	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:132029995G>T	ENST00000314099.8	-	1	2211	c.2163C>A	c.(2161-2163)ttC>ttA	p.F721L	ENPP3_ENST00000358229.5_Intron|ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000414305.1_Intron	NM_001145659.1|NM_001278507.1	NP_001139131.1|NP_001265436.1	A4FU28	CTGE9_HUMAN	CTAGE family, member 9	721	Pro-rich.					integral to membrane				endometrium(1)|lung(1)	2						GAGGTGGGGGGAAAGGAGGTC	0.522000													11	95					6.40141e-05	8.33271e-05	1	1	0
PEX1	5189	broad.mit.edu	37	7	92151424	92151424	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:92151424C>A	ENST00000248633.4	-	2	360	c.265G>T	c.(265-267)Ggg>Tgg	p.G89W	PEX1_ENST00000438045.1_Missense_Mutation_p.G89W|PEX1_ENST00000428214.1_Missense_Mutation_p.G89W	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	89					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			ACCTGTCCCCCATTTGAGAGT	0.353000													14	88					7.93312e-07	1.17023e-06	1	1	0
ADRA1B	147	broad.mit.edu	37	5	159344561	159344561	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:159344561G>A	ENST00000306675.3	+	1	772	c.649G>A	c.(649-651)Gcg>Acg	p.A217T		NM_000679.3	NP_000670.1	P35368	ADA1B_HUMAN	adrenoceptor alpha 1B	217					cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)	CATCCCTCTGGCGGTCATTCT	0.542000													8	86					0	0	1	0	0
LOC643733	643733	broad.mit.edu	37	11	104776205	104776205	+	RNA	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:104776205C>G	ENST00000532510.1	-	0	3227																											GGTGGCAGCGCCAGGAATATC	0.433000													7	33					0	0	1	0	0
PCDH20	64881	broad.mit.edu	37	13	61986079	61986079	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr13:61986079C>G	ENST00000409186.1	-	5	4258	c.2153G>C	c.(2152-2154)gGt>gCt	p.G718A	PCDH20_ENST00000409204.4_Missense_Mutation_p.G718A			Q8N6Y1	PCD20_HUMAN	protocadherin 20	691					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GGCAGGCTCACCCCCATCAAC	0.433000													13	75					0	0	1	0	0
SPATA31C1	441452	broad.mit.edu	37	9	90535173	90535173	+	RNA	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:90535173G>C	ENST00000602681.1	+	0	1077																											GCAGCCTCCTGGGGCCACACC	0.637000													11	32					0	0	1	0	0
ST3GAL5	8869	broad.mit.edu	37	2	86071517	86071517	+	Splice_Site	SNP	A	A	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:86071517A>G	ENST00000377332.3	-	6	1117		c.e6+1		ST3GAL5_ENST00000393805.1_Splice_Site|ST3GAL5_ENST00000393808.3_Splice_Site	NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 5						ganglioside biosynthetic process|protein glycosylation	integral to Golgi membrane|integral to plasma membrane	lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						CAACAAAAATACCTTATCTCG	0.423000													6	28					0	0	1	0	0
PCGF3	10336	broad.mit.edu	37	4	727519	727519	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:727519G>T	ENST00000362003.5	+	4	445	c.50G>T	c.(49-51)tGc>tTc	p.C17F	PCGF3_ENST00000521023.2_5'UTR|PCGF3_ENST00000470161.2_Missense_Mutation_p.C17F|PCGF3_ENST00000400151.2_Missense_Mutation_p.C17F|PCGF3_ENST00000482726.1_3'UTR|PCGF3_ENST00000505655.2_Missense_Mutation_p.C17F	NM_006315.4	NP_006306.2	Q3KNV8	PCGF3_HUMAN	polycomb group ring finger 3	17					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(1)	7						CACATCACCTGCCGCCTGTGC	0.582000													5	37					0.000602214	0.000725341	1	1	0
OR2M2	391194	broad.mit.edu	37	1	248344306	248344306	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:248344306T>C	ENST00000359682.2	+	1	1019	c.1019T>C	c.(1018-1020)cTa>cCa	p.L340P		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	340					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GTCAAAATACTAGCATTGATT	0.284000													10	87					0	0	1	0	0
ZNF521	25925	broad.mit.edu	37	18	22805260	22805260	+	Silent	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr18:22805260C>T	ENST00000361524.3	-	4	2770	c.2622G>A	c.(2620-2622)ggG>ggA	p.G874G	ZNF521_ENST00000584787.1_Silent_p.G654G|ZNF521_ENST00000538137.2_Silent_p.G874G	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	874					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CTTCTTCGCTCCCATCGTGAC	0.532000			T	PAX5	ALL								9	71					0	0	1	0	0
TMPRSS3	64699	broad.mit.edu	37	21	43816152	43816152	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr21:43816152G>T	ENST00000380399.1	-	1	803	c.100C>A	c.(100-102)Ccg>Acg	p.P34T	TMPRSS3_ENST00000433957.2_5'UTR|TMPRSS3_ENST00000398397.3_5'UTR|TMPRSS3_ENST00000291532.3_5'UTR			P57727	TMPS3_HUMAN	transmembrane protease, serine 3	0					cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						GGCTCACACGGGCATGACCTA	0.537000													3	17					0.115264	0.120372	1	1	0
GALNT15	117248	broad.mit.edu	37	3	16268944	16268944	+	Silent	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:16268944G>T	ENST00000339732.5	+	10	2360	c.1857G>T	c.(1855-1857)ccG>ccT	p.P619P	GALNT15_ENST00000437509.1_Intron	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15																		ACCTGCGTCCGTGTGATGGAA	0.433000													10	31					2.17888e-05	2.95337e-05	1	1	0
NETO2	81831	broad.mit.edu	37	16	47117401	47117401	+	Missense_Mutation	SNP	C	C	T	rs144054886		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr16:47117401C>T	ENST00000562435.1	-	9	1693	c.1309G>A	c.(1309-1311)Gac>Aac	p.D437N	NETO2_ENST00000303155.5_Missense_Mutation_p.D430N	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2	437						integral to membrane	receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				CAGTGGTGGTCGTGGATGCAG	0.552000										HNSCC(25;0.065)			19	114					0	0	1	0	0
OR4C12	283093	broad.mit.edu	37	11	50003617	50003617	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:50003617G>A	ENST00000335238.4	-	1	454	c.421C>T	c.(421-423)Ctc>Ttc	p.L141F		NM_001005270.2	NP_001005270.1	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						GCCACCAGGAGAATGCACAGG	0.507000													24	126					0	0	1	0	0
TIMP4	7079	broad.mit.edu	37	3	12198380	12198380	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:12198380C>A	ENST00000287814.4	-	3	802	c.292G>T	c.(292-294)Gac>Tac	p.D98Y	SYN2_ENST00000432424.2_RNA	NM_003256.3	NP_003247.1	Q99727	TIMP4_HUMAN	TIMP metallopeptidase inhibitor 4	98	NTR.						metal ion binding|metalloendopeptidase inhibitor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						AGGGAAGAGTCAAAAGGCGTA	0.393000													11	26					0.00829132	0.00934935	1	1	0
COL10A1	1300	broad.mit.edu	37	6	116446573	116446573	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:116446573G>C	ENST00000327673.4	-	1	490	c.83C>G	c.(82-84)cCc>cGc	p.P28R	NT5DC1_ENST00000319550.4_Intron|COL10A1_ENST00000243222.4_Missense_Mutation_p.P28R			Q03692	COAA1_HUMAN	collagen, type X, alpha 1	28	Nonhelical region (NC2).				skeletal system development	collagen	metal ion binding			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		TATGCCTGTGGGCATTTGGTA	0.398000													13	94					0	0	1	0	0
DNAJC1	64215	broad.mit.edu	37	10	22209838	22209838	+	Silent	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:22209838G>A	ENST00000376980.3	-	4	716	c.426C>T	c.(424-426)taC>taT	p.Y142Y	DNAJC1_ENST00000376946.1_3'UTR	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	142					negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				CCCGCCTGTAGTAGAATACAG	0.403000													5	40					0	0	1	0	0
USP44	84101	broad.mit.edu	37	12	95927971	95927971	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:95927971C>G	ENST00000258499.3	-	2	350	c.62G>C	c.(61-63)aGc>aCc	p.S21T	USP44_ENST00000537435.2_Missense_Mutation_p.S21T|USP44_ENST00000393091.2_Missense_Mutation_p.S21T|USP44_ENST00000552440.1_Missense_Mutation_p.S21T	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	21					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						AGGGTTGAGGCTGGAATGGTC	0.468000											OREG0022039	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	93					0	0	1	0	0
MICU2	221154	broad.mit.edu	37	13	22088518	22088518	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr13:22088518C>A	ENST00000382374.4	-	7	702	c.637G>T	c.(637-639)Gtg>Ttg	p.V213L		NM_152726.2	NP_689939.1			mitochondrial calcium uptake 2																		TTAGTTTTCACTGTCATCAAG	0.313000													4	31					1.23904e-05	1.68943e-05	1	1	0
OR52N1	79473	broad.mit.edu	37	11	5809805	5809805	+	Missense_Mutation	SNP	G	G	A	rs142442713	by1000genomes	TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:5809805G>A	ENST00000317078.1	-	1	241	c.242C>T	c.(241-243)cCc>cTc	p.P81L	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		GAGAGTGTTGGGAAGGGTGCT	0.463000													5	54					0	0	1	0	0
SORCS1	114815	broad.mit.edu	37	10	108923887	108923887	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:108923887C>G	ENST00000263054.6	-	1	405	c.398G>C	c.(397-399)aGa>aCa	p.R133T	SORCS1_ENST00000344440.6_Missense_Mutation_p.R133T	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	133						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)		CCCTCCATCTCTTAGCACTCC	0.687000													5	31					0	0	1	0	0
OR5D16	390144	broad.mit.edu	37	11	55606783	55606783	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:55606783C>A	ENST00000378396.1	+	1	556	c.556C>A	c.(556-558)Ctg>Atg	p.L186M		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				GTTATCCTCCCTGATATCACT	0.418000													8	88					0.00307968	0.00354221	1	1	0
PTDSS1	9791	broad.mit.edu	37	8	97318726	97318726	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:97318726C>G	ENST00000517309.1	+	8	1275	c.949C>G	c.(949-951)Cat>Gat	p.H317D	PTDSS1_ENST00000455950.2_Missense_Mutation_p.H171D|PTDSS1_ENST00000522072.1_Missense_Mutation_p.H114D	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	317					phosphatidylserine biosynthetic process	integral to membrane	transferase activity			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	CCAAGCCAGTCATCCATTAAG	0.413000													11	76					0	0	1	0	0
OR5T3	390154	broad.mit.edu	37	11	56020472	56020472	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:56020472A>G	ENST00000303059.3	+	1	797	c.797A>G	c.(796-798)aAg>aGg	p.K266R		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					GGAAGGCAAAAGGCCTTCTCT	0.423000													27	142					0	0	1	0	0
FGF12	2257	broad.mit.edu	37	3	191861799	191861799	+	Nonstop_Mutation	SNP	T	T	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:191861799T>A	ENST00000454309.2	-	5	1556	c.731A>T	c.(730-732)tAg>tTg	p.*244L	FGF12_ENST00000445105.1_Nonstop_Mutation_p.*182L|FGF12_ENST00000430714.1_Nonstop_Mutation_p.*145L|FGF12_ENST00000450716.1_Nonstop_Mutation_p.*182L|FGF12_ENST00000264730.3_Nonstop_Mutation_p.*182L	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12	0					cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		agTTCTCAGCTATGTTGAATC	0.453000													12	114					0	0	1	0	0
KCNC2	3747	broad.mit.edu	37	12	75601341	75601341	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:75601341C>A	ENST00000549446.1	-	2	1103	c.423G>T	c.(421-423)tgG>tgT	p.W141C	KCNC2_ENST00000341669.3_Missense_Mutation_p.W141C|KCNC2_ENST00000298972.1_Missense_Mutation_p.W141C|KCNC2_ENST00000540018.1_Missense_Mutation_p.W141C|KCNC2_ENST00000350228.2_Missense_Mutation_p.W141C|KCNC2_ENST00000548513.1_Missense_Mutation_p.W141C|KCNC2_ENST00000393288.2_Missense_Mutation_p.W141C|KCNC2_ENST00000550433.1_Missense_Mutation_p.W141C	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	141					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						CGTCGATGCCCCAGAAGGCCA	0.667000													5	18					1.23904e-05	1.68943e-05	1	1	0
DNM1P46	196968	broad.mit.edu	37	15	100332965	100332965	+	RNA	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr15:100332965G>T	ENST00000341853.1	-	0	1226					NR_003260.1																						GGCAGGCAGGGGCAGGGGAGG	0.622000													4	53					0.014758	0.0159185	1	1	0
CTNNA3	29119	broad.mit.edu	37	10	67829214	67829214	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:67829214C>A	ENST00000433211.1	-	15	2185	c.2011G>T	c.(2011-2013)Gaa>Taa	p.E671*	CTNNA3_ENST00000373735.1_Nonsense_Mutation_p.E10*|CTNNA3_ENST00000373744.4_Nonsense_Mutation_p.E671*	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	671					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						GCAATCTTTTCTTTTTCTGCC	0.358000													10	73					7.48243e-07	1.10552e-06	1	1	0
MTMR3	8897	broad.mit.edu	37	22	30421781	30421781	+	Silent	SNP	T	T	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr22:30421781T>A	ENST00000333027.3	+	20	3832	c.3504T>A	c.(3502-3504)acT>acA	p.T1168T	MTMR3_ENST00000406629.1_Silent_p.T1168T|MTMR3_ENST00000401950.2_Silent_p.T1196T|MTMR3_ENST00000351488.3_Silent_p.T1159T|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000323630.5_Silent_p.T1060T	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	1196					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TTGCTGCCACTTCCAACTGAA	0.552000													4	47					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144942066	144942066	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:144942066C>A	ENST00000525985.1	-	2	5427	c.5356G>T	c.(5356-5358)Gtg>Ttg	p.V1786L				P58107	EPIPL_HUMAN	epiplakin 1	1786						cytoplasm|cytoskeleton	protein binding|structural molecule activity	p.V1786M(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AACCTCCCCACGCGCATTTTT	0.517000													19	46					1.67942e-08	2.6656e-08	1	1	0
COL5A1	1289	broad.mit.edu	37	9	137702117	137702117	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:137702117C>A	ENST00000371817.3	+	44	3905	c.3491C>A	c.(3490-3492)cCg>cAg	p.P1164Q		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1164	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		ATCGGGGAGCCGGGGCAGAAA	0.592000													8	51					0.00307968	0.00354221	1	1	0
FANCD2OS	115795	broad.mit.edu	37	3	10145981	10145981	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:10145981G>T	ENST00000450660.2	-	2	694	c.478C>A	c.(478-480)Ctc>Atc	p.L160I	FANCD2OS_ENST00000524279.1_Missense_Mutation_p.L160I	NM_001164839.1	NP_001158311.1			FANCD2 opposite strand																		TACAGCAAGAGGATAGAGCGC	0.478000													10	31					0.000442599	0.000543056	1	1	0
DGKB	1607	broad.mit.edu	37	7	14378140	14378140	+	Splice_Site	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:14378140C>G	ENST00000403951.2	-	23	2544	c.2125_splice	c.e23+1	p.D709_splice	DGKB_ENST00000258767.5_Splice_Site_p.D709_splice|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000402815.1_Splice_Site_p.D708_splice|DGKB_ENST00000399322.3_Splice_Site_p.D709_splice|DGKB_ENST00000407950.1_Splice_Site_p.D701_splice|DGKB_ENST00000444700.2_Splice_Site_p.D690_splice|DGKB_ENST00000406247.3_Splice_Site_p.D709_splice			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	709					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	GAAAACTGACCTTGACTTGCA	0.358000													7	56					0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49381058	49381058	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:49381058C>A	ENST00000374201.3	-	25	3456	c.3154G>T	c.(3154-3156)Gaa>Taa	p.E1052*	FRMPD2_ENST00000474573.1_Nonsense_Mutation_p.E4*|FRMPD2_ENST00000407470.4_Nonsense_Mutation_p.E1020*|FRMPD2_ENST00000305531.3_Nonsense_Mutation_p.E1027*|FRMPD2_ENST00000463706.1_5'UTR	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	1052					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		GCCGTGCGTTCATCTCCCATG	0.502000													11	59					0.010729	0.0117521	1	1	0
CYP3A5	1577	broad.mit.edu	37	7	99270239	99270239	+	Silent	SNP	T	T	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:99270239T>G	ENST00000343703.5	-	5	638	c.252A>C	c.(250-252)ctA>ctC	p.L84L	CYP3A5_ENST00000339843.2_3'UTR|CYP3A5_ENST00000439761.1_Silent_p.L94L|CYP3A5_ENST00000222982.4_Silent_p.L94L|CYP3A5_ENST00000480723.1_5'UTR					cytochrome P450, family 3, subfamily A, polypeptide 5											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)					ATTCTTTCACTAGCACTGTTC	0.383000													11	107					0	0	1	0	0
TRIM48	79097	broad.mit.edu	37	11	55032763	55032763	+	Silent	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:55032763C>A	ENST00000417545.2	+	2	518	c.432C>A	c.(430-432)ccC>ccA	p.P144P		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	128						intracellular	zinc ion binding			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GACACTGTCCCGCTGAGTGGG	0.493000													5	43					0.000602214	0.000725341	1	1	0
FREM1	158326	broad.mit.edu	37	9	14805060	14805060	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:14805060G>T	ENST00000380881.4	-	20	4183	c.3368C>A	c.(3367-3369)aCg>aAg	p.T1123K	FREM1_ENST00000422223.2_Missense_Mutation_p.T1122K|FREM1_ENST00000380880.3_Missense_Mutation_p.T1122K			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1122					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)		GACGTACACCGTGAACTGGTC	0.433000													27	37					6.36457e-07	9.47981e-07	1	1	0
CDH9	1007	broad.mit.edu	37	5	26890054	26890054	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:26890054T>G	ENST00000231021.4	-	9	1575	c.1403A>C	c.(1402-1404)cAa>cCa	p.Q468P		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	468	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GTGGCTACTTTGTTTTGGGTT	0.383000													6	76					0	0	1	0	0
GATAD2A	54815	broad.mit.edu	37	19	19612150	19612150	+	Silent	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:19612150G>C	ENST00000404158.1	+	11	1846	c.1428G>C	c.(1426-1428)cgG>cgC	p.R476R	GATAD2A_ENST00000429563.2_Silent_p.R303R|GATAD2A_ENST00000358713.3_Silent_p.R475R|GATAD2A_ENST00000252577.5_Silent_p.R475R|GATAD2A_ENST00000537887.1_Silent_p.R104R|GATAD2A_ENST00000360315.3_Silent_p.R475R			Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	475					DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						TTGAGCAGCGGCTCCTGCAGC	0.667000													5	15					0	0	1	0	0
IGHMBP2	3508	broad.mit.edu	37	11	68682420	68682420	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:68682420G>A	ENST00000255078.3	+	6	952	c.841G>A	c.(841-843)Gat>Aat	p.D281N		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	281	Leu-rich.				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GCACTCCCTGGATGCGGTTTT	0.592000													4	56					0	0	1	0	0
OFD1	8481	broad.mit.edu	37	X	13757119	13757119	+	Splice_Site	SNP	A	A	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:13757119A>T	ENST00000380567.1	+	5	708		c.e5-1		OFD1_ENST00000490265.1_Splice_Site|OFD1_ENST00000340096.6_Splice_Site|OFD1_ENST00000398395.3_Splice_Site|OFD1_ENST00000380550.3_Splice_Site			O75665	OFD1_HUMAN	oral-facial-digital syndrome 1						cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						TTCTTTTAACAGGTTTCAGGA	0.313000													7	17					0	0	1	0	0
OR5W2	390148	broad.mit.edu	37	11	55681516	55681516	+	Silent	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:55681516G>T	ENST00000344514.1	-	1	542	c.543C>A	c.(541-543)atC>atA	p.I181I		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	181					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						AGAGAGGAGGGATATCACAGA	0.403000													10	82					3.86212e-05	5.09224e-05	1	1	0
SPATA19	219938	broad.mit.edu	37	11	133714143	133714143	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:133714143C>A	ENST00000299140.3	-	4	411	c.357G>T	c.(355-357)tgG>tgT	p.W119C	SPATA19_ENST00000532889.1_Missense_Mutation_p.W119C	NM_174927.1	NP_777587.1	Q7Z5L4	SPT19_HUMAN	spermatogenesis associated 19	119					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane				cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		CACCTTACCTCCATCTTATGA	0.532000													7	36					8.12818e-05	0.000104036	1	1	0
OR2A14	135941	broad.mit.edu	37	7	143827100	143827100	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:143827100G>T	ENST00000408899.2	+	1	950	c.895G>T	c.(895-897)Gcc>Tcc	p.A299S		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A299T(1)		large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					GGTCAAGGGCGCCCTGAGGAG	0.512000													6	88					0.00116845	0.00137844	1	1	0
OR10J3	441911	broad.mit.edu	37	1	159283536	159283536	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:159283536C>T	ENST00000332217.5	-	1	913	c.914G>A	c.(913-915)cGt>cAt	p.R305H		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R305H(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					TTTTGCCCCACGGCTCTGTGC	0.428000													12	68					0	0	1	0	0
FAAH2	158584	broad.mit.edu	37	X	57358175	57358175	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:57358175G>A	ENST00000374900.4	+	4	677	c.557G>A	c.(556-558)aGt>aAt	p.S186N		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	186						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						TATGAATCCAGTAACAAGATC	0.433000										HNSCC(52;0.14)			8	33					0	0	1	0	0
OR2B11	127623	broad.mit.edu	37	1	247614723	247614723	+	Missense_Mutation	SNP	C	C	A	rs147839044	byFrequency	TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:247614723C>A	ENST00000318749.6	-	1	585	c.562G>T	c.(562-564)Gtg>Ttg	p.V188L		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			AGCTTGATCACGGCCGGCACC	0.582000													6	38					3.59834e-05	4.79257e-05	1	1	0
GPR98	84059	broad.mit.edu	37	5	89943405	89943405	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:89943405A>C	ENST00000405460.2	+	17	3209	c.3113A>C	c.(3112-3114)tAt>tCt	p.Y1038S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1038					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATGGTCCAGTATGCTACCAAG	0.448000													7	42					0	0	1	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74649196	74649196	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:74649196G>C	ENST00000354431.4	-	2	364	c.173C>G	c.(172-174)tCa>tGa	p.S58*	LRRIQ3_ENST00000395089.1_Nonsense_Mutation_p.S58*|LRRIQ3_ENST00000370911.3_Nonsense_Mutation_p.S58*|LRRIQ3_ENST00000370909.2_Nonsense_Mutation_p.S58*	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	58										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						AAaattgtttgagaagatgca	0.313000													6	50					0	0	1	0	0
RAB38	23682	broad.mit.edu	37	11	87883022	87883022	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:87883022C>A	ENST00000243662.6	-	2	386	c.304G>T	c.(304-306)Gca>Tca	p.A102S		NM_022337.2	NP_071732.1	P57729	RAB38_HUMAN	RAB38, member RAS oncogene family	102					protein transport|small GTPase mediated signal transduction	melanosome|plasma membrane	GTP binding|GTPase activity			large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TTCCACTTTGCCACTGCTTCA	0.448000													6	126					3.59834e-05	4.79257e-05	1	1	0
NCAM2	4685	broad.mit.edu	37	21	22710816	22710816	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr21:22710816A>T	ENST00000400546.1	+	8	1255	c.1006A>T	c.(1006-1008)Aga>Tga	p.R336*	NCAM2_ENST00000284894.7_Nonsense_Mutation_p.R194*|NCAM2_ENST00000535285.1_Nonsense_Mutation_p.R361*	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	336	Ig-like C2-type 4.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		CACTTGGAAAAGAGCTGTGGA	0.388000													7	19					0	0	1	0	0
CPEB2	132864	broad.mit.edu	37	4	15063786	15063786	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:15063786A>G	ENST00000538197.1	+	11	2779	c.2779A>G	c.(2779-2781)Aaa>Gaa	p.K927E	CPEB2_ENST00000345451.3_Missense_Mutation_p.K452E|CPEB2_ENST00000259997.5_Missense_Mutation_p.K490E|CPEB2_ENST00000382401.3_Missense_Mutation_p.K455E|CPEB2_ENST00000507071.1_Missense_Mutation_p.K482E|CPEB2_ENST00000442003.2_Missense_Mutation_p.K900E|RP11-665G4.1_ENST00000513384.1_RNA|CPEB2_ENST00000382395.3_Missense_Mutation_p.K460E|CPEB2_ENST00000541112.1_Missense_Mutation_p.K919E|RP11-665G4.1_ENST00000502344.1_RNA	NM_001177382.1	NP_001170853.1	Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding protein 2	482					regulation of translation	cytoplasm	nucleotide binding|RNA binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						AAAATACCCAAAAGGTGCTGG	0.433000													16	107					0	0	1	0	0
CYP7B1	9420	broad.mit.edu	37	8	65509309	65509309	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:65509309C>A	ENST00000310193.3	-	6	1584	c.1411G>T	c.(1411-1413)Gat>Tat	p.D471Y	CYP7B1_ENST00000523954.1_Intron	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	471					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				ATTTCTAAATCAAAATAAGTT	0.333000													13	31					5.50884e-06	7.75287e-06	1	1	0
ERGIC2	51290	broad.mit.edu	37	12	29514589	29514589	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:29514589T>A	ENST00000360150.4	-	6	438	c.363A>T	c.(361-363)aaA>aaT	p.K121N		NM_016570.2	NP_057654.2	Q96RQ1	ERGI2_HUMAN	ERGIC and golgi 2	121					vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane|nucleus				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184)				Arsenic trioxide(DB01169)	TCTGCCACTCTTTCTGCTGTG	0.294000													6	63					0	0	1	0	0
S1PR1	1901	broad.mit.edu	37	1	101705599	101705599	+	Silent	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:101705599C>T	ENST00000305352.6	+	2	1434	c.1059C>T	c.(1057-1059)agC>agT	p.S353S		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	353					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						TCAGCCGCAGCAAATCGGACA	0.547000													11	61					0	0	1	0	0
ZIC3	7547	broad.mit.edu	37	X	136649480	136649480	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:136649480C>G	ENST00000287538.5	+	1	1180	c.630C>G	c.(628-630)taC>taG	p.Y210*	ZIC3_ENST00000370606.3_Nonsense_Mutation_p.Y210*	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	210					cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					CGGACCCCTACGCGGCCGGCG	0.662000													4	20					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176526028	176526028	+	Silent	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:176526028G>A	ENST00000367662.3	+	2	1734	c.570G>A	c.(568-570)agG>agA	p.R190R	PAPPA2_ENST00000367661.3_Silent_p.R190R	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	190					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						CCCAAAGGAGGGGCTGGGCCA	0.587000													10	76					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183659646	183659646	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:183659646A>T	ENST00000511685.1	+	18	3451	c.3328A>T	c.(3328-3330)Aac>Tac	p.N1110Y	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.N1110Y					teneurin transmembrane protein 3																		GGATGCGTCCAACATGGGTGG	0.443000													15	72					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9009597	9009597	+	Silent	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:9009597C>A	ENST00000397910.4	-	39	39332	c.39129G>T	c.(39127-39129)ctG>ctT	p.L13043L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13045	SEA 7.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCAGACCCTGCAGGACCCTCT	0.552000													14	81					0.0167234	0.0180173	1	1	0
CCR4	1233	broad.mit.edu	37	3	32995458	32995458	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:32995458C>A	ENST00000330953.5	+	2	712	c.544C>A	c.(544-546)Cgc>Agc	p.R182S		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	182					chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane				NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						TTATACTGAGCGCAACCATAC	0.498000													12	66					2.80697e-09	4.52563e-09	1	1	0
FREM2	341640	broad.mit.edu	37	13	39451320	39451320	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr13:39451320C>A	ENST00000280481.7	+	21	8827	c.8611C>A	c.(8611-8613)Ctc>Atc	p.L2871I		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2871					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TAAGAAGAGTCTCTGGTTGTC	0.433000													18	138					1.99824e-07	3.05554e-07	1	1	0
TNN	63923	broad.mit.edu	37	1	175105997	175105997	+	Silent	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:175105997G>A	ENST00000239462.4	+	17	3581	c.3468G>A	c.(3466-3468)gcG>gcA	p.A1156A		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1156	Fibrinogen C-terminal.		A -> V (in dbSNP:rs2072036).		cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.A1156A(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCACTCCAGCGCGGTATGAGG	0.453000													3	30					0	0	1	0	0
OR5M11	219487	broad.mit.edu	37	11	56310644	56310644	+	Silent	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:56310644C>A	ENST00000528616.2	-	1	113	c.90G>T	c.(88-90)ctG>ctT	p.L30L		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						CAACCAGAAACAGCACAAAAA	0.473000													15	70					2.32078e-09	3.75493e-09	1	1	0
GABRB1	2560	broad.mit.edu	37	4	47427970	47427970	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:47427970C>G	ENST00000295454.3	+	9	1652	c.1360C>G	c.(1360-1362)Cga>Gga	p.R454G	GABRB1_ENST00000538619.1_Missense_Mutation_p.R384G	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	454					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CAAGTGGTCCCGAATGTTTTT	0.483000													7	67					0	0	1	0	0
FOXJ2	55810	broad.mit.edu	37	12	8202111	8202111	+	Missense_Mutation	SNP	G	G	A	rs143592450	byFrequency	TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:8202111G>A	ENST00000162391.3	+	9	2626	c.1481G>A	c.(1480-1482)cGt>cAt	p.R494H	FOXJ2_ENST00000428177.2_Missense_Mutation_p.R494H	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	494					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		GCCCCTGCCCGTATTGCTGAC	0.577000													10	28					0	0	1	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	104984617	104984617	+	Silent	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:104984617G>A	ENST00000372582.1	+	8	1737	c.981G>A	c.(979-981)gcG>gcA	p.A327A	IL1RAPL2_ENST00000344799.4_Silent_p.A327A	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	327	Ig-like C2-type 3.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTGACCTGGCGAATTATACCT	0.388000													9	24					0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140590744	140590744	+	Silent	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:140590744G>C	ENST00000239450.2	+	1	2454	c.2265G>C	c.(2263-2265)gtG>gtC	p.V755V	PCDHB12_ENST00000541609.1_Silent_p.V418V	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		755					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGTGTGTGTGACTGGAGGCT	0.542000													14	80					0	0	1	0	0
TDO2	6999	broad.mit.edu	37	4	156825226	156825226	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:156825226G>C	ENST00000536354.2	+	2	156	c.92G>C	c.(91-93)gGt>gCt	p.G31A		NM_005651.3	NP_005642.1	P48775	T23O_HUMAN	tryptophan 2,3-dioxygenase	31					tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	L-Tryptophan(DB00150)	TCACAAACTGGTGTGAATAGA	0.403000													4	28					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158651364	158651364	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:158651364G>T	ENST00000368148.3	-	4	664	c.484C>A	c.(484-486)Cag>Aag	p.Q162K	SPTA1_ENST00000368147.3_Missense_Mutation_p.Q162K	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	162					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)					TGTACATACTGCTGGAACTTC	0.542000													16	130					1.15088e-07	1.7657e-07	1	1	0
MMP27	64066	broad.mit.edu	37	11	102563717	102563717	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:102563717G>C	ENST00000260229.4	-	9	1340	c.1249C>G	c.(1249-1251)Cac>Gac	p.H417D		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	417	Hemopexin-like 3.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		CCAGGAAAGTGTTTTACCACT	0.438000													15	63					0	0	1	0	0
WAC	51322	broad.mit.edu	37	10	28905190	28905190	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:28905190G>C	ENST00000375664.3	+	12	2119	c.1510G>C	c.(1510-1512)Gcc>Ccc	p.A504P	WAC_ENST00000347934.4_Missense_Mutation_p.A446P|WAC_ENST00000375646.1_Missense_Mutation_p.A397P|WAC_ENST00000354911.4_Missense_Mutation_p.A549P			Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	549					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						GAATTCTTCTGCCCGATCCAC	0.438000													6	58					0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119951385	119951385	+	Silent	SNP	A	A	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:119951385A>G	ENST00000307142.4	+	4	1651	c.1455A>G	c.(1453-1455)ccA>ccG	p.P485P	SYNPO2_ENST00000429713.2_Silent_p.P485P|SYNPO2_ENST00000434046.2_Silent_p.P485P|SYNPO2_ENST00000448416.2_Intron	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	485						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						AGATGTTACCAGACACCACAG	0.488000													5	22					0	0	1	0	0
ZMAT4	79698	broad.mit.edu	37	8	40532265	40532265	+	Silent	SNP	A	A	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:40532265A>G	ENST00000297737.6	-	5	681	c.535T>C	c.(535-537)Tta>Cta	p.L179L	ZMAT4_ENST00000315769.7_Intron	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	179						nucleus	DNA binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			AGTTGTTCTAACAAAGCAACT	0.483000													9	126					0	0	1	0	0
STXBP1	6812	broad.mit.edu	37	9	130413919	130413919	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:130413919G>T	ENST00000373302.3	+	2	214	c.75G>T	c.(73-75)aaG>aaT	p.K25N	STXBP1_ENST00000373299.1_Missense_Mutation_p.K25N	NM_003165.3	NP_003156.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	25					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						TCAAGAAGAAGGGGGAATGGA	0.403000													5	19					1.23904e-05	1.68943e-05	1	1	0
G6PC2	57818	broad.mit.edu	37	2	169763289	169763289	+	Splice_Site	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:169763289G>C	ENST00000375363.3	+	4	648	c.556_splice	c.e4+1	p.G186_splice	G6PC2_ENST00000461586.1_Intron|G6PC2_ENST00000429379.2_Intron|G6PC2_ENST00000421979.1_Intron|SPC25_ENST00000472216.2_Intron	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN	glucose-6-phosphatase, catalytic, 2	186					gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						AGTAATTGGTGGTAAATATGA	0.358000													5	59					0	0	1	0	0
CARD9	64170	broad.mit.edu	37	9	139264312	139264312	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:139264312C>A	ENST00000371732.5	-	7	1132	c.967G>T	c.(967-969)Gag>Tag	p.E323*	CARD9_ENST00000371734.3_Nonsense_Mutation_p.E323*|CARD9_ENST00000315908.7_Nonsense_Mutation_p.E323*	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	323					positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		TCGAACATCTCCTTCTCCTCC	0.622000													3	19					6.4e-05	8.33271e-05	1	1	0
OR5D13	390142	broad.mit.edu	37	11	55540934	55540934	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:55540934T>A	ENST00000361760.1	+	1	21	c.21T>A	c.(19-21)aaT>aaA	p.N7K		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				CTGAAAGAAATCAAAGCAGCA	0.378000													14	80					0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153077648	153077648	+	Silent	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:153077648C>A	ENST00000285900.5	+	9	1522	c.1179C>A	c.(1177-1179)acC>acA	p.T393T	GRIA1_ENST00000340592.5_Silent_p.T393T|GRIA1_ENST00000521843.2_Silent_p.T324T|GRIA1_ENST00000448073.4_Silent_p.T403T|GRIA1_ENST00000518783.1_Silent_p.T403T|GRIA1_ENST00000518142.1_Silent_p.T313T	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	393					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CTGCAGCCACCGATGCCCAAG	0.488000													4	39					2.56e-06	3.676e-06	1	1	0
HMCN1	83872	broad.mit.edu	37	1	186072767	186072767	+	Silent	SNP	A	A	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:186072767A>G	ENST00000271588.4	+	69	10966	c.10737A>G	c.(10735-10737)ggA>ggG	p.G3579G	HMCN1_ENST00000367492.2_Silent_p.G3579G	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3579	Ig-like C2-type 34.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AAACTCTAGGAGGAGGAGAGG	0.433000													8	51					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16957976	16957976	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:16957976G>A	ENST00000377833.4	-	46	7119	c.7054C>T	c.(7054-7056)Cat>Tat	p.H2352Y		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2352	CUB 17.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGTGTTGGATGTCCAATGCTT	0.408000													7	70					0	0	1	0	0
AMPH	273	broad.mit.edu	37	7	38471787	38471787	+	Splice_Site	SNP	A	A	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:38471787A>G	ENST00000356264.2	-	13	1374		c.e13+1		AMPH_ENST00000325590.5_Splice_Site|AMPH_ENST00000428293.2_Splice_Site	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin						endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TTAGTGGCTTACCGTCCATAG	0.323000													4	20					0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20658887	20658887	+	RNA	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr15:20658887C>T	ENST00000428453.1	-	0	1979																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						TATCGATTCCCTCAGGAATAA	0.363000													7	90					0	0	1	0	0
OR10W1	81341	broad.mit.edu	37	11	58034652	58034652	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:58034652G>C	ENST00000395079.2	-	1	1080	c.679C>G	c.(679-681)Cgg>Ggg	p.R227G		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				GAGAAGGCCCGGTGGCGGCCA	0.582000													9	52					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92531085	92531085	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:92531085C>G	ENST00000298047.6	+	9	4923	c.4906C>G	c.(4906-4908)Cag>Gag	p.Q1636E	FAT3_ENST00000409404.2_Missense_Mutation_p.Q1636E|FAT3_ENST00000525166.1_Missense_Mutation_p.Q1486E			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1636	Cadherin 15.				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)				GACGATGGGTCAGTTTGTCCT	0.468000										TCGA Ovarian(4;0.039)			12	52					0	0	1	0	0
PRDM7	11105	broad.mit.edu	37	16	90124900	90124900	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr16:90124900G>T	ENST00000449207.2	-	10	1295	c.1276C>A	c.(1276-1278)Cct>Act	p.P426T	PRDM7_ENST00000325921.6_Silent_p.G125G|PRDM7_ENST00000407825.1_Silent_p.G125G	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	426						chromosome|nucleus	nucleic acid binding			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		ACTTGAAAAGGCCAGACAGCA	0.438000													10	58					0.000442599	0.000543056	1	1	0
ASB1	51665	broad.mit.edu	37	2	239342233	239342233	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:239342233G>T	ENST00000264607.4	+	2	335	c.88G>T	c.(88-90)Gat>Tat	p.D30Y	ASB1_ENST00000409297.1_Missense_Mutation_p.D30Y|ASB1_ENST00000469885.1_3'UTR	NM_001040445.1	NP_001035535.1	Q9Y576	ASB1_HUMAN	ankyrin repeat and SOCS box containing 1	30					intracellular signal transduction|negative regulation of cytokine biosynthetic process					breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)		GCAATTTTGTGATCATCCGCT	0.562000													3	18					1	1	1	1	0
OSBPL9	114883	broad.mit.edu	37	1	52242582	52242582	+	Silent	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:52242582G>A	ENST00000371710.3	+	15	1484	c.1302G>A	c.(1300-1302)ctG>ctA	p.L434L	OSBPL9_ENST00000371714.1_Silent_p.L403L|OSBPL9_ENST00000486942.1_Silent_p.L238L|OSBPL9_ENST00000361556.5_Silent_p.L306L|OSBPL9_ENST00000462759.1_Silent_p.L238L|OSBPL9_ENST00000530544.1_Silent_p.L335L|OSBPL9_ENST00000453295.1_Silent_p.L399L|OSBPL9_ENST00000337809.4_Silent_p.L421L|OSBPL9_ENST00000447887.1_Silent_p.L426L|OSBPL9_ENST00000435686.2_Silent_p.L251L|OSBPL9_ENST00000428468.1_Silent_p.L416L|OSBPL9_ENST00000531828.1_Silent_p.L251L	NM_024586.5|NM_148906.2	NP_078862.4|NP_683704.2	Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	416					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						ATCCGGACCTGTTTGTGAGGT	0.378000													5	48					0	0	1	0	0
TRPA1	8989	broad.mit.edu	37	8	72964993	72964993	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:72964993G>C	ENST00000262209.4	-	14	1859	c.1652C>G	c.(1651-1653)gCa>gGa	p.A551G	RP11-383H13.1_ENST00000537896.1_3'UTR|RP11-383H13.1_ENST00000457356.4_3'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	551						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	AAAGTGAAGTGCAGTGTTCTT	0.453000													6	56					0	0	1	0	0
ANKRD37	353322	broad.mit.edu	37	4	186320766	186320766	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:186320766G>C	ENST00000335174.4	+	4	755	c.315G>C	c.(313-315)tgG>tgC	p.W105C		NM_181726.2	NP_859077.1	Q7Z713	ANR37_HUMAN	ankyrin repeat domain 37	105						cytoplasm|nucleus				NS(1)|large_intestine(1)|lung(1)	3		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.27e-25)|Epithelial(43;1.02e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.14e-11)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000118)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|COAD - Colon adenocarcinoma(29;0.00939)|READ - Rectum adenocarcinoma(43;0.155)		ATCTCGCTTGGTCATGTGGAT	0.368000													8	32					0	0	1	0	0
B4GALT2	8704	broad.mit.edu	37	1	44450609	44450609	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:44450609G>A	ENST00000356836.6	+	4	1412	c.622G>A	c.(622-624)Gcc>Acc	p.A208T	B4GALT2_ENST00000372324.1_Missense_Mutation_p.A208T|B4GALT2_ENST00000434555.2_Missense_Mutation_p.A142T|B4GALT2_ENST00000309519.7_Missense_Mutation_p.A237T|B4GALT2_ENST00000481924.1_3'UTR	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	208					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	GGAGGATGCCGCCTATGACTG	0.602000													6	24					0	0	1	0	0
STAU2	27067	broad.mit.edu	37	8	74526175	74526175	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:74526175C>A	ENST00000355780.5	-	8	817	c.599G>T	c.(598-600)gGa>gTa	p.G200V	STAU2_ENST00000521210.1_Missense_Mutation_p.G128V|STAU2_ENST00000524300.1_Missense_Mutation_p.G232V|STAU2_ENST00000523558.1_Missense_Mutation_p.G60V|STAU2_ENST00000522695.1_Missense_Mutation_p.G200V|STAU2_ENST00000521451.1_Missense_Mutation_p.G12V|STAU2_ENST00000522509.1_Missense_Mutation_p.G200V|STAU2_ENST00000517542.1_Missense_Mutation_p.G194V|STAU2_ENST00000519961.1_Missense_Mutation_p.G232V|STAU2_ENST00000521727.1_Missense_Mutation_p.G212V	NM_014393.2	NP_055208.2	Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	232					transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			ATGTGGTGGTCCACTTTCTTT	0.348000													3	17					0.115264	0.120372	1	1	0
OR4Q3	441669	broad.mit.edu	37	14	20216276	20216276	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr14:20216276C>A	ENST00000331723.1	+	1	690	c.690C>A	c.(688-690)ttC>ttA	p.F230L		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	230					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)		GAACACACTTCTGCCAGGGCC	0.488000													7	88					0.00198382	0.00230193	1	1	0
FCRL5	83416	broad.mit.edu	37	1	157514800	157514800	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:157514800G>T	ENST00000361835.3	-	4	537	c.380C>A	c.(379-381)gCg>gAg	p.A127E	FCRL5_ENST00000368189.3_Missense_Mutation_p.A127E|FCRL5_ENST00000368190.3_Missense_Mutation_p.A127E|FCRL5_ENST00000356953.4_Missense_Mutation_p.A127E|FCRL5_ENST00000368191.3_Missense_Mutation_p.A42E	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	127						integral to membrane|plasma membrane	receptor activity	p.A127E(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				TGTTACTTCCGCCTTTGCCCG	0.418000													10	43					0.000442599	0.000543056	1	1	0
TP53	7157	broad.mit.edu	37	17	7578290	7578290	+	Splice_Site	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:7578290C>T	ENST00000420246.2	-	6	692		c.e6-1		TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						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.?(40)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(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)		GGGGCCAGACCTAAGAGCAAT	0.552000		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)			8	19					0	0	1	0	0
APBB1	322	broad.mit.edu	37	11	6432114	6432114	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:6432114C>A	ENST00000389906.2	-	2	563	c.464G>T	c.(463-465)gGg>gTg	p.G155V	APBB1_ENST00000311051.3_Missense_Mutation_p.G155V|APBB1_ENST00000299402.6_Missense_Mutation_p.G155V|APBB1_ENST00000533407.1_Intron	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	155					apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		ctcggcctccccggccgcctt	0.627000													10	55					0.000442599	0.000543056	1	1	0
AKAP11	11215	broad.mit.edu	37	13	42877762	42877762	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr13:42877762A>G	ENST00000025301.2	+	8	5055	c.4880A>G	c.(4879-4881)tAt>tGt	p.Y1627C		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1627					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		AGCAGCCGCTATCAGAAATCT	0.418000													9	87					0	0	1	0	0
FXR1	8087	broad.mit.edu	37	3	180688083	180688083	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:180688083G>C	ENST00000357559.4	+	15	1924	c.1540G>C	c.(1540-1542)Gat>Cat	p.D514H	FXR1_ENST00000305586.7_Missense_Mutation_p.D429H|FXR1_ENST00000480918.1_Missense_Mutation_p.D501H|FXR1_ENST00000468861.1_Missense_Mutation_p.D429H|FXR1_ENST00000445140.2_Missense_Mutation_p.D514H|FXR1_ENST00000491062.1_Missense_Mutation_p.D465H	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	514					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			GACTGATGAAGATGCTGTTCT	0.413000													8	46					0	0	1	0	0
HCN3	57657	broad.mit.edu	37	1	155257696	155257696	+	Silent	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:155257696C>T	ENST00000368358.3	+	8	1775	c.1767C>T	c.(1765-1767)gcC>gcT	p.A589A	HCN3_ENST00000496230.1_3'UTR	NM_020897.1	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	589						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGGGTCGGGCCCCGAGCACAG	0.612000													8	36					0	0	1	0	0
MAP3K13	9175	broad.mit.edu	37	3	185169139	185169139	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:185169139G>C	ENST00000265026.3	+	7	1568	c.1234G>C	c.(1234-1236)Gca>Cca	p.A412P	MAP3K13_ENST00000535426.1_Missense_Mutation_p.A268P|MAP3K13_ENST00000424227.1_Missense_Mutation_p.A412P|MAP3K13_ENST00000443863.1_Missense_Mutation_p.A268P|MAP3K13_ENST00000446828.1_Missense_Mutation_p.A205P	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	412					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			CATTGCCTCTGCAGATGTACT	0.428000													10	47					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	130184735	130184735	+	Silent	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:130184735C>G	ENST00000422113.2	-	2	914	c.588G>C	c.(586-588)ctG>ctC	p.L196L		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	196						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)		ACAGGAGCTCCAGCTCGGCCA	0.692000													6	24					0	0	1	0	0
ARID4B	51742	broad.mit.edu	37	1	235377328	235377328	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:235377328T>C	ENST00000264183.3	-	17	2094	c.1597A>G	c.(1597-1599)Aaa>Gaa	p.K533E	ARID4B_ENST00000349213.3_Intron|ARID4B_ENST00000366603.2_Missense_Mutation_p.K533E	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	533	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	p.K533E(1)		NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			tcttcttcttTATTCGTTTCA	0.348000													5	57					0	0	1	0	0
LRFN3	79414	broad.mit.edu	37	19	36430792	36430792	+	Silent	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:36430792C>A	ENST00000588831.1	+	3	1519	c.465C>A	c.(463-465)gcC>gcA	p.A155A	LRFN3_ENST00000246529.3_Silent_p.A155A			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	155					cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			ATGATTGTGCCGAGACACTGG	0.677000													13	54					2.27111e-07	3.45555e-07	1	1	0
DDX11	1663	broad.mit.edu	37	12	31244783	31244783	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:31244783G>T	ENST00000407793.2	+	10	1471	c.1220G>T	c.(1219-1221)aGc>aTc	p.S407I	DDX11_ENST00000542838.1_Missense_Mutation_p.S407I|DDX11_ENST00000350437.4_Missense_Mutation_p.S407I|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000228264.6_Missense_Mutation_p.S381I|DDX11_ENST00000545668.1_Missense_Mutation_p.S407I	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	407	Helicase ATP-binding.				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GGCATGCACAGCGTGGAGGTC	0.672000										Multiple Myeloma(12;0.14)			4	40					0.184627	0.188945	1	1	0
NLRP12	91662	broad.mit.edu	37	19	54297343	54297343	+	Missense_Mutation	SNP	G	G	A	rs146786265	by1000genomes	TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:54297343G>A	ENST00000324134.6	-	10	3314	c.3146C>T	c.(3145-3147)gCg>gTg	p.A1049V	NLRP12_ENST00000391772.1_Missense_Mutation_p.A880V|NLRP12_ENST00000535162.1_Missense_Mutation_p.A992V|NLRP12_ENST00000391773.1_Missense_Mutation_p.A1050V|NLRP12_ENST00000354278.3_Missense_Mutation_p.A880V|NLRP12_ENST00000391775.3_Missense_Mutation_p.A992V|NLRP12_ENST00000345770.5_Missense_Mutation_p.A994V|NLRP12_ENST00000351894.4_Missense_Mutation_p.A937V	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	1049					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)		TACTCGAAGCGCTGCCAACCT	0.463000													6	31					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82764161	82764161	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:82764161G>A	ENST00000423517.2	-	3	3042	c.2705C>T	c.(2704-2706)tCa>tTa	p.S902L	PCLO_ENST00000333891.8_Missense_Mutation_p.S902L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	848	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GAAACGCCTTGACTGCTCCTG	0.542000													21	133					0	0	1	0	0
ZNF317	57693	broad.mit.edu	37	19	9271381	9271381	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:9271381A>T	ENST00000247956.6	+	7	1365	c.1060A>T	c.(1060-1062)Agg>Tgg	p.R354W	ZNF317_ENST00000360385.3_Missense_Mutation_p.R322W	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	354					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						AGAGCACGTGAGGAATCACAC	0.567000													5	42					0	0	1	0	0
FLII	2314	broad.mit.edu	37	17	18148389	18148389	+	Nonstop_Mutation	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:18148389T>C	ENST00000578558.1	-	17	2137	c.2102A>G	c.(2101-2103)tAg>tGg	p.*701W	FLII_ENST00000379450.4_3'UTR|FLII_ENST00000579294.1_3'UTR|FLII_ENST00000545457.2_3'UTR|FLII_ENST00000327031.4_3'UTR			Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	0	Interaction with ACTL6A.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					CATTCTTTGCTAGCAGACAGT	0.607000													10	70					0	0	1	0	0
GOLM1	51280	broad.mit.edu	37	9	88655709	88655709	+	Missense_Mutation	SNP	C	C	A	rs144749820	byFrequency	TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:88655709C>A	ENST00000388712.3	-	6	710	c.542G>T	c.(541-543)gGg>gTg	p.G181V	GOLM1_ENST00000388711.3_Missense_Mutation_p.G181V|GOLM1_ENST00000257504.6_5'UTR	NM_016548.3	NP_057632.2	Q8NBJ4	GOLM1_HUMAN	golgi membrane protein 1	181						Golgi apparatus|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						AGCTTCATTCCCCTTTTTGGT	0.468000													10	51					2.17888e-05	2.95337e-05	1	1	0
ANGPT4	51378	broad.mit.edu	37	20	896685	896685	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr20:896685C>A	ENST00000381922.3	-	1	275	c.173G>T	c.(172-174)gGg>gTg	p.G58V	ANGPT4_ENST00000546022.1_Missense_Mutation_p.G58V	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	58					anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						GACCTCAGGCCCCGGAGGGCA	0.617000													6	70					0.00116845	0.00137844	1	1	0
TMC7	79905	broad.mit.edu	37	16	19056251	19056251	+	Silent	SNP	G	G	T	rs147850292		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr16:19056251G>T	ENST00000421369.3	+	10	1611	c.1053G>T	c.(1051-1053)acG>acT	p.T351T	TMC7_ENST00000304381.5_Silent_p.T461T|TMC7_ENST00000569532.1_Silent_p.T461T	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	461						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						TGGTGTTCACGCTGGGCTCCA	0.582000													12	66					0.010729	0.0117521	1	1	0
TGM6	343641	broad.mit.edu	37	20	2397912	2397912	+	Silent	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr20:2397912G>T	ENST00000202625.2	+	10	1432	c.1371G>T	c.(1369-1371)gcG>gcT	p.A457A	TGM6_ENST00000381423.1_Silent_p.A457A	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	457					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	ACAGCAAGGCGGTGAACAGGC	0.607000													4	12					0.00024832	0.000309642	1	1	0
CHDC2	286464	broad.mit.edu	37	X	36103429	36103429	+	Splice_Site	SNP	A	A	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:36103429A>T	ENST00000378660.1	+	5	604		c.e5-1		CHDC2_ENST00000313548.4_Splice_Site					calponin homology domain containing 2																		TTTTTCTCATAGGGATGTATA	0.294000													9	19					0	0	1	0	0
SATB1	6304	broad.mit.edu	37	3	18458394	18458394	+	Splice_Site	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:18458394C>T	ENST00000338745.6	-	3	2122	c.388_splice	c.e3+1	p.G130_splice	SATB1_ENST00000417717.2_Splice_Site_p.G130_splice|SATB1_ENST00000454909.2_Splice_Site_p.G130_splice|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000475083.1_5'UTR	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	130	PDZ-like dimerization domain.				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						CATTATTTACCTTTGGCCTGG	0.403000													13	59					0	0	1	0	0
ART4	420	broad.mit.edu	37	12	14993444	14993444	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:14993444C>G	ENST00000228936.4	-	2	1169	c.788G>C	c.(787-789)aGa>aCa	p.R263T	C12orf60_ENST00000527783.1_Intron	NM_021071.2	NP_066549.2	Q93070	NAR4_HUMAN	ADP-ribosyltransferase 4	263					arginine metabolic process|protein ADP-ribosylation	anchored to membrane|plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3)	15						CCAGTCTCCTCTTGGGTGGTA	0.453000													8	51					0	0	1	0	0
SULF1	23213	broad.mit.edu	37	8	70539467	70539467	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:70539467T>A	ENST00000260128.4	+	16	2590	c.1873T>A	c.(1873-1875)Tct>Act	p.S625T	SULF1_ENST00000419716.3_Missense_Mutation_p.S625T|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000458141.2_Missense_Mutation_p.S625T|SULF1_ENST00000402687.4_Missense_Mutation_p.S625T	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	625					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TCCCAATGACTCTATCCATTG	0.388000													3	20					0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42088212	42088212	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:42088212G>A	ENST00000395925.3	-	5	641	c.557C>T	c.(556-558)tCc>tTc	p.S186F	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	186					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GGGAGACTCGGAAGCAGCAGT	0.542000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				4	61					0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33138938	33138938	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:33138938G>T	ENST00000341947.2	-	45	3546	c.3319C>A	c.(3319-3321)Cct>Act	p.P1107T	COL11A2_ENST00000374714.1_Missense_Mutation_p.P1081T|COL11A2_ENST00000374713.1_Missense_Mutation_p.P1060T|COL11A2_ENST00000374712.1_Missense_Mutation_p.P1026T|COL11A2_ENST00000361917.1_Missense_Mutation_p.P1000T|COL11A2_ENST00000374708.4_Missense_Mutation_p.P1021T|COL11A2_ENST00000395197.1_Missense_Mutation_p.P1047T|COL11A2_ENST00000357486.1_Missense_Mutation_p.P1086T|COL11A2_ENST00000477772.1_Intron	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1107	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GGGGGTCCAGGAGGGCCCTGG	0.617000													5	10					0.014758	0.0159185	1	1	0
GUCY1A3	2982	broad.mit.edu	37	4	156638394	156638394	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:156638394G>T	ENST00000296518.7	+	8	1865	c.1656G>T	c.(1654-1656)atG>atT	p.M552I	GUCY1A3_ENST00000506455.1_Missense_Mutation_p.M552I|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.M552I|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.M552I|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.M294I|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.M552I|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.M552I			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	552	Guanylate cyclase.				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TAGCGCTGATGGCCCTGAAGA	0.438000													4	25					2.56e-06	3.676e-06	1	1	0
AMY2B	280	broad.mit.edu	37	1	104115725	104115725	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:104115725G>T	ENST00000361355.4	+	5	972	c.356G>T	c.(355-357)gGt>gTt	p.G119V	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	119					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		CATATGTCTGGTAATGCTGTG	0.398000													36	206					2.42023e-17	4.10368e-17	1	1	0
GPR148	344561	broad.mit.edu	37	2	131486858	131486858	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:131486858C>A	ENST00000309926.4	+	1	216	c.134C>A	c.(133-135)cCc>cAc	p.P45H		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	45				CMPQAASNTSLGLGDLRVPSSMLYWLFLPSSLLAAA -> S S (in Ref. 2; AAP34196).		integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					CTCAGGGTGCCCAGCTCCATG	0.622000													5	57					0.000602214	0.000725341	1	1	0
DNAH11	8701	broad.mit.edu	37	7	21737692	21737692	+	Splice_Site	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:21737692G>T	ENST00000328843.6	+	37	6093		c.e37-1		DNAH11_ENST00000409508.3_Splice_Site			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11						microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTACTTTTTAGACCCTGTGCC	0.378000									Kartagener syndrome				5	11					0.000602214	0.000725341	1	1	0
TRIM51	84767	broad.mit.edu	37	11	55658917	55658917	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:55658917A>C	ENST00000449290.2	+	7	1260	c.1168A>C	c.(1168-1170)Agt>Cgt	p.S390R	TRIM51_ENST00000244891.3_Missense_Mutation_p.S247R	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	390	B30.2/SPRY.					intracellular	zinc ion binding										CACTCACTGCAGTCTCTTTAC	0.443000													15	73					0	0	1	0	0
SCAMP5	192683	broad.mit.edu	37	15	75311215	75311215	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr15:75311215T>A	ENST00000361900.6	+	8	806	c.599T>A	c.(598-600)gTg>gAg	p.V200E	SCAMP5_ENST00000545456.1_Missense_Mutation_p.V129E|SCAMP5_ENST00000425597.3_Missense_Mutation_p.V200E|SCAMP5_ENST00000568081.1_Missense_Mutation_p.V133E|SCAMP5_ENST00000562212.1_Missense_Mutation_p.V208E	NM_001178111.1	NP_001171582.1	Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5	200					exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding			large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						AATCCACATGTGCAGCAGGCA	0.552000													3	17					0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193232586	193232586	+	Silent	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:193232586G>T	ENST00000342695.4	-	2	457	c.135C>A	c.(133-135)atC>atA	p.I45I	ATP13A4_ENST00000295548.3_Silent_p.I45I|ATP13A4_ENST00000392443.3_Silent_p.I45I	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	45					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CCAAGGGGAGGATTCCAAATG	0.498000													11	65					4.68919e-08	7.32885e-08	1	1	0
GRID2	2895	broad.mit.edu	37	4	94376932	94376932	+	Silent	SNP	A	A	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:94376932A>T	ENST00000282020.4	+	11	1923	c.1665A>T	c.(1663-1665)acA>acT	p.T555T	GRID2_ENST00000510992.1_Silent_p.T460T	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	555					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)	CTGAAAAGACAGTGGATATGT	0.478000													9	70					0	0	1	0	0
ZNF589	51385	broad.mit.edu	37	3	48309548	48309548	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:48309548C>G	ENST00000354698.3	+	4	439	c.367C>G	c.(367-369)Cca>Gca	p.P123A	ZNF589_ENST00000440261.2_Missense_Mutation_p.P122A|ZNF589_ENST00000427617.2_Intron|ZNF589_ENST00000412564.1_Intron	NM_016089.2	NP_057173.2	Q86UQ0	ZN589_HUMAN	zinc finger protein 589	123					regulation of transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(193;0.000649)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AAATCCCTGCCCAGAGGATCA	0.507000													7	39					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82764452	82764452	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:82764452C>A	ENST00000423517.2	-	3	2751	c.2414G>T	c.(2413-2415)aGt>aTt	p.S805I	PCLO_ENST00000333891.8_Missense_Mutation_p.S805I	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	751	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGGTGGAAAACTCTGTGAGGG	0.433000													5	91					1.23904e-05	1.68943e-05	1	1	0
FAM135B	51059	broad.mit.edu	37	8	139151264	139151264	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:139151264C>A	ENST00000395297.1	-	18	4036	c.3866G>T	c.(3865-3867)cGc>cTc	p.R1289L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1289										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GAAACATTTGCGCAAATCAGC	0.438000										HNSCC(54;0.14)			10	27					0.000673444	0.000810072	1	1	0
SNX14	57231	broad.mit.edu	37	6	86282058	86282058	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:86282058T>C	ENST00000314673.3	-	3	472	c.296A>G	c.(295-297)cAt>cGt	p.H99R	SNX14_ENST00000505648.1_Missense_Mutation_p.H47R|RP11-321N4.5_ENST00000503906.1_3'UTR|SNX14_ENST00000346348.3_Missense_Mutation_p.H99R|SNX14_ENST00000513865.1_Missense_Mutation_p.H99R|SNX14_ENST00000369627.2_Missense_Mutation_p.H99R|SNX14_ENST00000508980.1_5'UTR	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	99					cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		AGCACAGCTATGACCTTGAGG	0.318000													11	60					0	0	1	0	0
SLC6A18	348932	broad.mit.edu	37	5	1244418	1244418	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:1244418G>A	ENST00000324642.3	+	10	1549	c.1426G>A	c.(1426-1428)Gct>Act	p.A476T	SLC6A18_ENST00000296821.4_Missense_Mutation_p.A374T	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	476					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CAATTTTGCCGCTTCCCCGAA	0.577000													5	42					0	0	1	0	0
DNASE1L3	1776	broad.mit.edu	37	3	58191210	58191210	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:58191210G>T	ENST00000483681.1	-	5	889	c.308C>A	c.(307-309)gCc>gAc	p.A103D	DNASE1L3_ENST00000486455.1_Intron|DNASE1L3_ENST00000394549.2_Missense_Mutation_p.A103D|DNASE1L3_ENST00000318316.3_Missense_Mutation_p.A103D			Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3	103					apoptosis|DNA catabolic process	nucleus	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		GTAGAGAAAGGCATATTGTTC	0.353000													5	33					1.23904e-05	1.68943e-05	1	1	0
IL3RA	3563	broad.mit.edu	37	X	1467386	1467386	+	Silent	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:1467386C>A	ENST00000331035.4	+	4	595	c.246C>A	c.(244-246)acC>acA	p.T82T	IL3RA_ENST00000381469.2_Intron	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	82						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		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)			Sargramostim(DB00020)	CCAACTACACCGTCCGAGTGG	0.458000													10	96					0.00621372	0.00702387	1	1	0
TNR	7143	broad.mit.edu	37	1	175334226	175334226	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:175334226G>T	ENST00000367674.1	-	12	3215	c.2507C>A	c.(2506-2508)cCa>cAa	p.P836Q	TNR_ENST00000263525.2_Missense_Mutation_p.P836Q	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	836	Fibronectin type-III 6.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CTCTGTGGCTGGTTGCAGGCC	0.557000													6	54					3.59834e-05	4.79257e-05	1	1	0
HIST1H2AB	8335	broad.mit.edu	37	6	26033783	26033783	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:26033783C>A	ENST00000259791.2	-	1	13	c.14G>T	c.(13-15)gGc>gTc	p.G5V		NM_003513.2	NP_003504.2	P04908	H2A1B_HUMAN	histone cluster 1, H2ab	5					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						GCCTTGTTTGCCGCGACCAGA	0.498000													4	44					0.00024832	0.000309642	1	1	0
GGA1	26088	broad.mit.edu	37	22	38019382	38019382	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr22:38019382G>A	ENST00000406772.1	+	9	1091	c.439G>A	c.(439-441)Gag>Aag	p.E147K	GGA1_ENST00000337437.4_Missense_Mutation_p.E187K|GGA1_ENST00000343632.4_Missense_Mutation_p.E220K|GGA1_ENST00000381756.5_Missense_Mutation_p.E237K|GGA1_ENST00000325180.8_Missense_Mutation_p.E220K	NM_001172688.1	NP_001166159.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	220	Interaction with ARF3.|VHS.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					TGCCATCGAGGAGGTGAACAA	0.592000											OREG0026543	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	116					0	0	1	0	0
OOSP2	219990	broad.mit.edu	37	11	59814466	59814466	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:59814466G>T	ENST00000278855.2	+	4	582	c.397G>T	c.(397-399)Gat>Tat	p.D133Y		NM_173801.3	NP_776162.2	Q86WS3	PLACL_HUMAN		133						extracellular region				breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						AATAAAATTGGATCCTAGTCC	0.383000													11	72					3.07112e-06	4.40305e-06	1	1	0
FREM2	341640	broad.mit.edu	37	13	39446936	39446936	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr13:39446936G>C	ENST00000280481.7	+	17	8257	c.8041G>C	c.(8041-8043)Gtg>Ctg	p.V2681L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2681					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGTTTCCTACGTGTTCCATTC	0.458000													5	39					0	0	1	0	0
YPEL3	83719	broad.mit.edu	37	16	30106424	30106424	+	Splice_Site	SNP	A	A	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr16:30106424A>G	ENST00000562641.1	-	2	804	c.275_splice	c.e2+1	p.V92_splice	YPEL3_ENST00000566595.1_Splice_Site_p.V54_splice|YPEL3_ENST00000398838.4_Splice_Site_p.V54_splice|YPEL3_ENST00000566134.1_Splice_Site_p.V54_splice|YPEL3_ENST00000565479.1_5'UTR|YPEL3_ENST00000398841.1_Splice_Site_p.V92_splice|YPEL3_ENST00000563788.1_Splice_Site_p.V54_splice			P61236	YPEL3_HUMAN	yippee-like 3 (Drosophila)	54						nucleolus				endometrium(1)|lung(2)	3						AGATACTCACACTGAGTTGAA	0.617000													4	20					0	0	1	0	0
GABRG3	2567	broad.mit.edu	37	15	27222233	27222233	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr15:27222233C>A	ENST00000333743.6	+	2	392	c.138C>A	c.(136-138)gaC>gaA	p.D46E	GABRG3_ENST00000555083.1_Missense_Mutation_p.D46E	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	46					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		AAGACACCGACGTGACTCTTA	0.383000													9	44					3.09899e-07	4.6688e-07	1	1	0
ZNF611	81856	broad.mit.edu	37	19	53208371	53208371	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:53208371C>A	ENST00000543227.1	-	6	2211	c.1937G>T	c.(1936-1938)gGa>gTa	p.G646V	ZNF611_ENST00000602162.1_Missense_Mutation_p.G577V|ZNF611_ENST00000595798.1_Missense_Mutation_p.G577V|ZNF611_ENST00000540744.1_Missense_Mutation_p.G646V|ZNF611_ENST00000453741.2_Missense_Mutation_p.G577V|ZNF611_ENST00000319783.1_Missense_Mutation_p.G646V	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN	zinc finger protein 611	646					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		AGATTTCTCTCCAGTATGAAG	0.413000													23	154					1.37657e-19	2.34706e-19	1	1	0
IRF1	3659	broad.mit.edu	37	5	131822538	131822538	+	Splice_Site	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:131822538T>C	ENST00000245414.4	-	5	623		c.e5-2		IRF1_ENST00000405885.2_Splice_Site|IRF1_ENST00000463784.1_Splice_Site	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1						blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		ACTTTCTTTCTGTGGGGCAGA	0.612000													15	98					0	0	1	0	0
PODNL1	79883	broad.mit.edu	37	19	14043638	14043638	+	Silent	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:14043638G>T	ENST00000538517.2	-	6	1390	c.1146C>A	c.(1144-1146)ggC>ggA	p.G382G	PODNL1_ENST00000538371.2_Silent_p.G471G|PODNL1_ENST00000254320.3_Silent_p.G391G|PODNL1_ENST00000339560.5_Silent_p.G473G	NM_001146255.1	NP_001139727.1	Q6PEZ8	PONL1_HUMAN	podocan-like 1	473	Leu-rich.					proteinaceous extracellular matrix				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)			CATGCCAGGTGCCTGGCCCGA	0.701000													6	49					0.00116845	0.00137844	1	1	0
CYP11B1	1584	broad.mit.edu	37	8	143957153	143957153	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:143957153G>C	ENST00000292427.4	-	6	1128	c.1096C>G	c.(1096-1098)Cgt>Ggt	p.R366G	CYP11B1_ENST00000517471.1_Missense_Mutation_p.R366G|CYP11B1_ENST00000377675.3_Missense_Mutation_p.R437G	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	366					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	p.R366C(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	AGGGCCGCACGCAGCAAGGGC	0.692000									Familial Hyperaldosteronism type I				7	74					0	0	1	0	0
SCGB1D2	10647	broad.mit.edu	37	11	62010877	62010877	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:62010877G>T	ENST00000244926.3	+	2	270	c.172G>T	c.(172-174)Gcc>Tcc	p.A58S	RP11-703H8.9_ENST00000529875.1_RNA	NM_006551.3	NP_006542.1	O95969	SG1D2_HUMAN	secretoglobin, family 1D, member 2	58						extracellular space	binding			breast(1)|endometrium(1)|lung(1)	3						AGCTGTTGCAGCCAAGTTAGG	0.453000													6	50					0.00116845	0.00137844	1	1	0
KCNC2	3747	broad.mit.edu	37	12	75436912	75436912	+	Silent	SNP	A	A	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:75436912A>G	ENST00000549446.1	-	5	2570	c.1890T>C	c.(1888-1890)tcT>tcC	p.S630S	KCNC2_ENST00000341669.3_Intron|KCNC2_ENST00000298972.1_Intron|KCNC2_ENST00000540018.1_Silent_p.S575S|KCNC2_ENST00000350228.2_Intron|KCNC2_ENST00000548513.1_Intron|RP11-81K13.1_ENST00000550049.1_RNA|RP11-81K13.1_ENST00000547040.1_RNA|KCNC2_ENST00000550433.1_Intron	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	630					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						TGGGAGATCGAGAGCGCCTCA	0.453000													5	48					0	0	1	0	0
IGF2BP1	10642	broad.mit.edu	37	17	47117419	47117419	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:47117419G>A	ENST00000290341.3	+	7	1118	c.784G>A	c.(784-786)Gag>Aag	p.E262K	IGF2BP1_ENST00000431824.2_Intron	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	262	Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GATGATCTTGGAGATTATGCA	0.502000													8	91					0	0	1	0	0
SEMA3E	9723	broad.mit.edu	37	7	83029528	83029528	+	Silent	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:83029528G>T	ENST00000307792.3	-	11	1649	c.1182C>A	c.(1180-1182)acC>acA	p.T394T	SEMA3E_ENST00000427262.1_Silent_p.T334T	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	394	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				GATAGTCCTTGGTGGTTCCGT	0.388000													10	67					9.70103e-10	1.58072e-09	1	1	0
CLTB	1212	broad.mit.edu	37	5	175843329	175843329	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:175843329C>A	ENST00000310418.4	-	1	241	c.36G>T	c.(34-36)gaG>gaT	p.E12D	CLTB_ENST00000345807.2_Missense_Mutation_p.E12D	NM_007097.3	NP_009028.1	P09497	CLCB_HUMAN	clathrin, light chain B	12					intracellular protein transport|vesicle-mediated transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle	protein binding|structural molecule activity			lung(1)	1	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.098)		GGGCACCGCTCTCCGACGACG	0.716000													7	11					0.0381472	0.0403421	1	1	0
ATP13A4	84239	broad.mit.edu	37	3	193132481	193132481	+	Silent	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:193132481G>T	ENST00000342695.4	-	26	3223	c.2901C>A	c.(2899-2901)atC>atA	p.I967I	ATP13A4_ENST00000392443.3_Silent_p.I948I|ATP13A4_ENST00000400270.2_5'UTR	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	967					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GAGGTGGAGAGATCAGCCGTC	0.453000													6	64					5.18039e-06	7.33556e-06	1	1	0
MARCH8	220972	broad.mit.edu	37	10	45956740	45956740	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:45956740C>G	ENST00000453424.2	-	6	1469	c.1208G>C	c.(1207-1209)cGc>cCc	p.R403P	MARCH8_ENST00000476962.1_5'UTR|MARCH8_ENST00000319836.3_Missense_Mutation_p.R121P|MARCH8_ENST00000395769.2_Missense_Mutation_p.R121P|MARCH8_ENST00000395771.3_Missense_Mutation_p.R121P			Q5T0T0	MARH8_HUMAN	membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase	121						cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	12						CTCGCAGCAGCGCGTGTCGGA	0.577000													6	37					0	0	1	0	0
BEND7	222389	broad.mit.edu	37	10	13523095	13523095	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:13523095G>T	ENST00000341083.3	-	6	1007	c.711C>A	c.(709-711)gaC>gaA	p.D237E	BEND7_ENST00000396900.2_Missense_Mutation_p.D289E|BEND7_ENST00000396898.2_Missense_Mutation_p.D302E|BEND7_ENST00000378605.3_Missense_Mutation_p.D250E	NM_152751.2	NP_689964.2	Q8N7W2	BEND7_HUMAN	BEN domain containing 7	289							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						GCATAAACACGTCAAAGCCTT	0.398000													10	63					7.48243e-07	1.10552e-06	1	1	0
ARSK	153642	broad.mit.edu	37	5	94922395	94922395	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:94922395G>T	ENST00000380009.4	+	5	1034	c.829G>T	c.(829-831)Gca>Tca	p.A277S		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	277						extracellular region	arylsulfatase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		GAATATTAGAGCATTTTATTA	0.308000													7	28					0.0381472	0.0403421	1	1	0
SYNE1	23345	broad.mit.edu	37	6	152652823	152652823	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:152652823T>G	ENST00000367255.5	-	78	13598	c.12997A>C	c.(12997-12999)Aaa>Caa	p.K4333Q	SYNE1_ENST00000341594.5_Missense_Mutation_p.K4198Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.K4333Q|SYNE1_ENST00000448038.1_Missense_Mutation_p.K4262Q|SYNE1_ENST00000423061.1_Missense_Mutation_p.K4262Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4333					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATTTTCCTTTTAATGAGGTCC	0.428000										HNSCC(10;0.0054)			13	66					0	0	1	0	0
PPP4R4	57718	broad.mit.edu	37	14	94700898	94700898	+	Splice_Site	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr14:94700898G>T	ENST00000304338.3	+	7	777		c.e7-1			NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4							cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						CCCACCTTCAGCATTAAGCGA	0.333000													4	19					0.00909568	0.00998677	1	1	0
KIAA1683	80726	broad.mit.edu	37	19	18368452	18368452	+	Silent	SNP	T	T	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:18368452T>A	ENST00000392413.3	-	4	3857	c.3642A>T	c.(3640-3642)acA>acT	p.T1214T	KIAA1683_ENST00000600328.2_Silent_p.T1027T|KIAA1683_ENST00000600359.2_Silent_p.T981T	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN	KIAA1683	0						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GGTCAGATACTGTCCTGGCTC	0.662000													16	47					0	0	1	0	0
SFMBT2	57713	broad.mit.edu	37	10	7214495	7214495	+	Silent	SNP	T	T	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:7214495T>G	ENST00000361972.4	-	18	2203	c.2113A>C	c.(2113-2115)Agg>Cgg	p.R705R	SFMBT2_ENST00000397167.1_Silent_p.R705R	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	705					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GCAGAAGACCTCCGTTTCTTC	0.642000													6	27					0	0	1	0	0
FBXO21	23014	broad.mit.edu	37	12	117612563	117612563	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:117612563T>C	ENST00000427718.2	-	5	706	c.632A>G	c.(631-633)gAc>gGc	p.D211G	FBXO21_ENST00000330622.5_Missense_Mutation_p.D211G|FBXO21_ENST00000549689.1_5'UTR	NM_015002.2|NM_033624.2	NP_055817.1|NP_296373.1	O94952	FBX21_HUMAN	F-box protein 21	211					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		GAGGCTGATGTCGGAGAGAGG	0.453000													7	53					0	0	1	0	0
PSD4	23550	broad.mit.edu	37	2	113950127	113950127	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:113950127G>A	ENST00000245796.6	+	6	1994	c.1799G>A	c.(1798-1800)gGc>gAc	p.G600D	PSD4_ENST00000441564.2_Missense_Mutation_p.G572D	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	600	SEC7.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGCCTGGAGGGCTTCCGGAAG	0.592000													4	52					0	0	1	0	0
LOC101927755	101927755	broad.mit.edu	37	17	58073356	58073356	+	RNA	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:58073356G>T	ENST00000586209.1	+	0	626																											CCCTAATCTGGGGTTGTGATT	0.348000													4	44					0.150653	0.155562	1	1	0
HIST1H2AA	221613	broad.mit.edu	37	6	25726735	25726735	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:25726735C>A	ENST00000297012.3	-	1	55	c.21G>T	c.(19-21)caG>caT	p.Q7H		NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	7					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						CTTTTCCTCCCTGCTTCCCTC	0.517000													9	37					1.12685e-05	1.55492e-05	1	1	0
MAPK7	5598	broad.mit.edu	37	17	19285706	19285706	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:19285706G>T	ENST00000308406.5	+	5	2476	c.2090G>T	c.(2089-2091)gGg>gTg	p.G697V	MAPK7_ENST00000395602.4_Missense_Mutation_p.G697V|MAPK7_ENST00000299612.7_Missense_Mutation_p.G558V|MAPK7_ENST00000395604.3_Missense_Mutation_p.G697V|MAPK7_ENST00000571657.1_Intron	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	697	May not be required for kinase activity; required to stimulate MEF2C activity (By similarity).				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CCAGACGCCGGGGGAGCCCCT	0.637000													10	45					0.0581538	0.0614291	1	1	0
UGT3A1	133688	broad.mit.edu	37	5	35957499	35957499	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:35957499T>C	ENST00000274278.3	-	5	1223	c.866A>G	c.(865-867)aAc>aGc	p.N289S	UGT3A1_ENST00000503189.1_Missense_Mutation_p.N289S|UGT3A1_ENST00000507113.1_Missense_Mutation_p.N255S|UGT3A1_ENST00000513233.1_5'UTR	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	289						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)			ATCCCCAAAGTTGGCAATGAA	0.473000													7	28					0	0	1	0	0
CDH11	1009	broad.mit.edu	37	16	64984719	64984719	+	Silent	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr16:64984719C>A	ENST00000394156.3	-	12	2298	c.1845G>T	c.(1843-1845)ctG>ctT	p.L615L	CDH11_ENST00000268603.4_Silent_p.L615L|CDH11_ENST00000566827.1_Silent_p.L489L			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	615					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)		CGCCTGTGCTCAGGCCGGCGT	0.632000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			3	28					6.4e-05	8.33271e-05	1	1	0
CCDC85A	114800	broad.mit.edu	37	2	56419951	56419951	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:56419951G>A	ENST00000407595.2	+	2	1118	c.616G>A	c.(616-618)Gat>Aat	p.D206N	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	206										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CTACGTGCGGGATGTGGGTGA	0.667000													5	44					0	0	1	0	0
ZUFSP	221302	broad.mit.edu	37	6	116967057	116967057	+	Missense_Mutation	SNP	G	G	T	rs141299898	byFrequency	TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:116967057G>T	ENST00000368576.3	-	9	1752	c.1509C>A	c.(1507-1509)aaC>aaA	p.N503K		NM_145062.2	NP_659499.2	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	503						intracellular	zinc ion binding			NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		ATAATGTTCGGTTTTTTTTCT	0.338000													6	41					0.0215528	0.0230314	1	1	0
JOSD1	9929	broad.mit.edu	37	22	39085050	39085050	+	Silent	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr22:39085050C>T	ENST00000216039.5	-	3	1078	c.399G>A	c.(397-399)ctG>ctA	p.L133L		NM_014876.5	NP_055691.1	Q15040	JOS1_HUMAN	Josephin domain containing 1	133	Josephin.						peptidase activity			large_intestine(1)|lung(1)|ovary(2)|pancreas(1)	5	Melanoma(58;0.04)					TTTTGAGGGGCAGTTTCAGTG	0.557000													8	60					0	0	1	0	0
MACROD2	140733	broad.mit.edu	37	20	15913980	15913980	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr20:15913980G>T	ENST00000217246.4	+	11	1230	c.835G>T	c.(835-837)Gca>Tca	p.A279S	MACROD2_ENST00000402914.1_Missense_Mutation_p.A44S|MACROD2_ENST00000310348.4_Missense_Mutation_p.A279S|MACROD2_ENST00000378058.3_Missense_Mutation_p.A44S	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	279	Glu-rich.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				GAGCCAAGATGCAGGTAGGCT	0.418000													5	22					0.184627	0.188945	1	1	0
GOLGA1	2800	broad.mit.edu	37	9	127684031	127684031	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:127684031C>A	ENST00000373555.4	-	9	1035	c.702G>T	c.(700-702)caG>caT	p.Q234H		NM_002077.3	NP_002068.1	Q92805	GOGA1_HUMAN	golgin A1	234						Golgi cisterna membrane				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						AGTAGTGTCTCTGCAATTCTT	0.493000													13	135					2.27111e-07	3.45555e-07	1	1	0
DYX1C1	161582	broad.mit.edu	37	15	55783354	55783354	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr15:55783354T>A	ENST00000321149.3	-	4	739	c.372A>T	c.(370-372)gaA>gaT	p.E124D	DYX1C1_ENST00000380679.1_Missense_Mutation_p.E124D|DYX1C1_ENST00000448430.2_Missense_Mutation_p.E124D|DYX1C1_ENST00000457155.2_Missense_Mutation_p.E124D|DYX1C1_ENST00000348518.3_Missense_Mutation_p.E124D|DYX1C1-CCPG1_ENST00000565113.1_RNA	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1	124					neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		ATTTTTGATCTTCCCGCTTTG	0.378000													4	50					0	0	1	0	0
ITGBL1	9358	broad.mit.edu	37	13	102359162	102359162	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr13:102359162C>T	ENST00000376180.3	+	9	1408	c.1189C>T	c.(1189-1191)Ctc>Ttc	p.L397F	ITGBL1_ENST00000376162.3_Missense_Mutation_p.L304F|ITGBL1_ENST00000545560.2_Missense_Mutation_p.L256F	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	397	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GTTTGGAAAGCTCTGCCAACA	0.493000													4	46					0	0	1	0	0
PHF21B	112885	broad.mit.edu	37	22	45312464	45312464	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr22:45312464C>A	ENST00000313237.5	-	4	410	c.260G>T	c.(259-261)gGc>gTc	p.G87V	PHF21B_ENST00000403565.1_5'UTR|PHF21B_ENST00000404079.2_Missense_Mutation_p.G75V|PHF21B_ENST00000447824.3_Missense_Mutation_p.G75V|PHF21B_ENST00000396103.3_Missense_Mutation_p.G87V	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	87							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		CCGGTCCCGGCCCGGGGCAAC	0.632000													11	40					3.86212e-05	5.09224e-05	1	1	0
NCKAP5L	57701	broad.mit.edu	37	12	50191129	50191129	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:50191129C>T	ENST00000335999.6	-	8	715	c.514G>A	c.(514-516)Gcc>Acc	p.A172T		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	168	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						GGGGGTGGGGCGGCTGGGGGG	0.627000													3	11					0	0	1	0	0
GRWD1	83743	broad.mit.edu	37	19	48954341	48954341	+	Silent	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:48954341G>T	ENST00000253237.5	+	6	1109	c.876G>T	c.(874-876)cgG>cgT	p.R292R		NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	292						nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		GGGACATCCGGGCAGCCCCCA	0.662000													6	35					0.00198382	0.00230193	1	1	0
LIN28B	389421	broad.mit.edu	37	6	105474180	105474180	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:105474180T>A	ENST00000345080.4	+	3	409	c.206T>A	c.(205-207)cTa>cAa	p.L69Q		NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN	lin-28 homolog B (C. elegans)	69	CSD.				miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing	cytoplasm|nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				CAGAGCAAACTATTCATGGAA	0.338000													9	79					0	0	1	0	0
OR9A2	135924	broad.mit.edu	37	7	142723572	142723572	+	Silent	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:142723572G>A	ENST00000350513.2	-	1	710	c.648C>T	c.(646-648)taC>taT	p.Y216Y		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					TGGAGATAATGTAGGTGTAGG	0.463000													5	60					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144994063	144994063	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:144994063C>A	ENST00000322810.4	-	32	10506	c.10337G>T	c.(10336-10338)cGt>cTt	p.R3446L	PLEC_ENST00000436759.2_Missense_Mutation_p.R3336L|PLEC_ENST00000356346.3_Missense_Mutation_p.R3295L|PLEC_ENST00000527096.1_Missense_Mutation_p.R3332L|PLEC_ENST00000357649.2_Missense_Mutation_p.R3313L|PLEC_ENST00000345136.3_Missense_Mutation_p.R3309L|PLEC_ENST00000398774.2_Missense_Mutation_p.R3277L|PLEC_ENST00000354589.3_Missense_Mutation_p.R3309L|PLEC_ENST00000354958.2_Missense_Mutation_p.R3287L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3446	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						CACAGGGGCACGGAGGCCGCT	0.622000													7	46					0.00198382	0.00230193	1	1	0
GLB1L3	112937	broad.mit.edu	37	11	134147782	134147782	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:134147782C>A	ENST00000389887.5	+	3	2834	c.338C>A	c.(337-339)gCc>gAc	p.A113D	GLB1L3_ENST00000431683.2_Missense_Mutation_p.A113D			Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	113					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		AAGCTGAAGGCCTGTGGCTTC	0.597000													5	16					0.014758	0.0159185	1	1	0
CFHR5	81494	broad.mit.edu	37	1	196971713	196971713	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:196971713T>A	ENST00000367414.5	+	8	1377	c.1321T>A	c.(1321-1323)Tgt>Agt	p.C441S	CFHR5_ENST00000256785.4_Missense_Mutation_p.C417S	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	417	Sushi 7.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						AGCTGTTCTCTGTAAAGAAAA	0.383000													3	13					0	0	1	0	0
KCNC2	3747	broad.mit.edu	37	12	75601342	75601342	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:75601342C>A	ENST00000549446.1	-	2	1102	c.422G>T	c.(421-423)tGg>tTg	p.W141L	KCNC2_ENST00000341669.3_Missense_Mutation_p.W141L|KCNC2_ENST00000298972.1_Missense_Mutation_p.W141L|KCNC2_ENST00000540018.1_Missense_Mutation_p.W141L|KCNC2_ENST00000350228.2_Missense_Mutation_p.W141L|KCNC2_ENST00000548513.1_Missense_Mutation_p.W141L|KCNC2_ENST00000393288.2_Missense_Mutation_p.W141L|KCNC2_ENST00000550433.1_Missense_Mutation_p.W141L	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	141					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						GTCGATGCCCCAGAAGGCCAG	0.672000													5	18					1.23904e-05	1.68943e-05	1	1	0
GRM3	2913	broad.mit.edu	37	7	86415996	86415996	+	Silent	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:86415996C>A	ENST00000361669.2	+	3	1987	c.888C>A	c.(886-888)acC>acA	p.T296T	GRM3_ENST00000546348.1_Intron|GRM3_ENST00000439827.1_Silent_p.T296T|GRM3_ENST00000394720.2_Silent_p.T294T|GRM3_ENST00000536043.1_Silent_p.T168T	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	296					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CCTCCTTCACCTGGGTGGCCA	0.682000													10	37					0.00621372	0.00702387	1	1	0
RACGAP1	29127	broad.mit.edu	37	12	50388083	50388083	+	Silent	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:50388083G>A	ENST00000434422.1	-	13	1471	c.1170C>T	c.(1168-1170)gaC>gaT	p.D390D	RACGAP1_ENST00000312377.5_Silent_p.D390D|RACGAP1_ENST00000551016.1_Silent_p.D390D|RACGAP1_ENST00000547905.1_Silent_p.D390D|RACGAP1_ENST00000454520.2_Silent_p.D390D|RACGAP1_ENST00000427314.2_Silent_p.D390D			Q9H0H5	RGAP1_HUMAN	Rac GTPase activating protein 1	390	Rho-GAP.				blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						TTACTGTGCGGTCACAGCCAG	0.393000													8	69					0	0	1	0	0
SIDT1	54847	broad.mit.edu	37	3	113286509	113286509	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:113286509G>T	ENST00000264852.4	+	3	1193	c.467G>T	c.(466-468)gGt>gTt	p.G156V	SIDT1_ENST00000393830.3_Missense_Mutation_p.G156V	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	156						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						GCACCCCTGGGTGCTCAGTAC	0.512000													13	105					9.31168e-06	1.29658e-05	1	1	0
PRRG3	79057	broad.mit.edu	37	X	150869492	150869492	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:150869492G>T	ENST00000370353.3	+	4	1073	c.683G>T	c.(682-684)gGc>gTc	p.G228V	PRRG3_ENST00000538575.1_Missense_Mutation_p.G228V			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	228						extracellular region|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					GCCAACCCTGGCGCTGACAAG	0.547000													3	18					2.56e-06	3.676e-06	1	1	0
OR5D13	390142	broad.mit.edu	37	11	55541466	55541466	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:55541466G>A	ENST00000361760.1	+	1	553	c.553G>A	c.(553-555)Gta>Ata	p.V185I		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TGACCACTCTGTAATTGTTTC	0.388000													9	119					0	0	1	0	0
PROKR2	128674	broad.mit.edu	37	20	5282689	5282689	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr20:5282689C>G	ENST00000546004.1	-	3	1398	c.1152G>C	c.(1150-1152)aaG>aaC	p.K384N	PROKR2_ENST00000217270.3_Missense_Mutation_p.K384N			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	384						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						CAGTGGGTCACTTCAGCCTGA	0.552000										HNSCC(71;0.22)			5	20					0	0	1	0	0
ISG15	9636	broad.mit.edu	37	1	949561	949561	+	Silent	SNP	C	C	A	rs1126663		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:949561C>A	ENST00000379389.4	+	2	352	c.201C>A	c.(199-201)ccC>ccA	p.P67P		NM_005101.3	NP_005092.1	P05161	ISG15_HUMAN	ISG15 ubiquitin-like modifier	67	Ubiquitin-like 1.				cell-cell signaling|interspecies interaction between organisms|ISG15-protein conjugation|negative regulation of type I interferon production|response to virus|type I interferon-mediated signaling pathway	cytosol|extracellular space	protein binding			endometrium(1)|lung(1)|upper_aerodigestive_tract(1)	3	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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.05e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.54e-23)|Colorectal(212;5.37e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00238)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		GCCTGGGCCCCGGCAGCACGG	0.657000													6	47					3.59834e-05	4.79257e-05	1	1	0
CDKN2A	1029	broad.mit.edu	37	9	21971028	21971028	+	Nonsense_Mutation	SNP	C	C	T	rs121913389		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:21971028C>T	ENST00000304494.5	-	2	600	c.330G>A	c.(328-330)tgG>tgA	p.W110*	CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.G166R|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.G125R|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.G125R|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.W59*|RP11-145E5.5_ENST00000404796.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	110					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.W110*(33)|p.H83fs*2(2)|p.G166R(2)|p.D105fs*8(1)|p.0(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.W110C(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCAGACGGCCCCAGGCATCGC	0.736000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			10	17					0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7559182	7559182	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:7559182C>G	ENST00000313599.3	-	5	1090	c.1033G>C	c.(1033-1035)Gga>Cga	p.G345R	CD163L1_ENST00000416109.2_Missense_Mutation_p.G355R|CD163L1_ENST00000396630.1_Missense_Mutation_p.G345R			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	345	SRCR 3.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TTGACGGTTCCGGAATGTCTG	0.428000													7	50					0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14488184	14488184	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:14488184G>T	ENST00000344204.4	+	48	7471	c.7447G>T	c.(7447-7449)Ggc>Tgc	p.G2483C	TRIO_ENST00000537187.1_Intron	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2483					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)					GCAGAAGGGGGGCTCCTTCTG	0.741000													3	16					0.115264	0.120372	1	1	0
ZAN	7455	broad.mit.edu	37	7	100358065	100358065	+	RNA	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:100358065C>T	ENST00000542585.1	+	0	3896				ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AGGCGTCTTCCTGGGTGCAAG	0.582000													11	57					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152755007	152755007	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:152755007T>C	ENST00000367255.5	-	34	4985	c.4384A>G	c.(4384-4386)Ata>Gta	p.I1462V	SYNE1_ENST00000341594.5_Missense_Mutation_p.I1532V|SYNE1_ENST00000265368.4_Missense_Mutation_p.I1462V|SYNE1_ENST00000367248.3_3'UTR|SYNE1_ENST00000367253.4_Missense_Mutation_p.I1462V|SYNE1_ENST00000448038.1_Missense_Mutation_p.I1469V|SYNE1_ENST00000423061.1_Missense_Mutation_p.I1469V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1462					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCTCAGTTATCCAGACGGAC	0.358000										HNSCC(10;0.0054)			7	25					0	0	1	0	0
TRIM9	114088	broad.mit.edu	37	14	51446241	51446241	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr14:51446241G>T	ENST00000298355.3	-	9	3055	c.1934C>A	c.(1933-1935)gCc>gAc	p.A645D	TRIM9_ENST00000338969.5_Missense_Mutation_p.A726D	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	645	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)					CCCAATTGTGGCCCCTTTTGT	0.443000													13	81					2.27111e-07	3.45555e-07	1	1	0
OTUD6A	139562	broad.mit.edu	37	X	69282814	69282814	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:69282814C>T	ENST00000338352.2	+	1	474	c.440C>T	c.(439-441)cCg>cTg	p.P147L		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU domain containing 6A	147	OTU.									autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						AAAGCGATCCCGGCCGACGGC	0.642000													5	7					0	0	1	0	0
ACTN2	88	broad.mit.edu	37	1	236924444	236924444	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:236924444G>C	ENST00000366578.4	+	20	2663	c.2497G>C	c.(2497-2499)Gcc>Ccc	p.A833P	ACTN2_ENST00000546208.1_Missense_Mutation_p.A327P|ACTN2_ENST00000542672.1_Missense_Mutation_p.A833P	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	833					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	p.A833S(1)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GCAGGTCATCGCCTCCTTCCG	0.517000													8	30					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38645243	38645243	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:38645243T>A	ENST00000413689.1	-	12	2043	c.1850A>T	c.(1849-1851)cAc>cTc	p.H617L	SCN5A_ENST00000451551.2_Missense_Mutation_p.H617L|SCN5A_ENST00000333535.4_Missense_Mutation_p.H617L|SCN5A_ENST00000449557.2_Missense_Mutation_p.H617L|SCN5A_ENST00000443581.1_Missense_Mutation_p.H617L|SCN5A_ENST00000425664.1_Missense_Mutation_p.H617L|SCN5A_ENST00000423572.2_Missense_Mutation_p.H617L|SCN5A_ENST00000414099.2_Missense_Mutation_p.H617L|SCN5A_ENST00000450102.2_Missense_Mutation_p.H617L|SCN5A_ENST00000455624.2_Missense_Mutation_p.H617L	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	617					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GCGGAGGAGGTGGCTTCCTGG	0.627000													8	31					0	0	1	0	0
LBH	81606	broad.mit.edu	37	2	30480387	30480387	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:30480387T>A	ENST00000395323.3	+	3	426	c.218T>A	c.(217-219)gTg>gAg	p.V73E	LBH_ENST00000401506.1_Missense_Mutation_p.V79E|LBH_ENST00000467242.1_3'UTR|LBH_ENST00000404397.1_Intron|LBH_ENST00000406087.1_3'UTR|LBH_ENST00000407930.2_Missense_Mutation_p.V56E	NM_030915.3	NP_112177.2	Q53QV2	LBH_HUMAN	limb bud and heart development	73					multicellular organismal development|transcription, DNA-dependent	cytoplasm|nucleolus				endometrium(2)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(172;0.155)					GAAGGGGAGGTGGAGAGCGGG	0.547000													8	38					0	0	1	0	0
RSAD2	91543	broad.mit.edu	37	2	7035912	7035912	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:7035912C>G	ENST00000382040.3	+	6	1061	c.925C>G	c.(925-927)Cgc>Ggc	p.R309G	RSAD2_ENST00000541728.1_Missense_Mutation_p.R202G	NM_080657.4	NP_542388.2	Q8WXG1	RSAD2_HUMAN	radical S-adenosyl methionine domain containing 2	309					defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding	p.R309S(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		TTTCTAGATGCGCTTTCTGAA	0.368000													3	24					0	0	1	0	0
KRT6A	3853	broad.mit.edu	37	12	52886474	52886474	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:52886474T>C	ENST00000330722.6	-	1	567	c.499A>G	c.(499-501)Atc>Gtc	p.I167V		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	167	Coil 1A.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		AGGGTCTTGATCTGTTCACGC	0.582000													10	76					0	0	1	0	0
CASS4	57091	broad.mit.edu	37	20	55012398	55012398	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr20:55012398C>A	ENST00000371336.3	+	2	416	c.215C>A	c.(214-216)aCg>aAg	p.T72K	CASS4_ENST00000434344.1_Missense_Mutation_p.T72K|CASS4_ENST00000360314.3_Missense_Mutation_p.T72K	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	72	SH3.				cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						CAAATCCTCACGGAGGTCGCT	0.622000													12	40					6.42651e-13	1.0797e-12	1	1	0
ZNF716	441234	broad.mit.edu	37	7	57522217	57522217	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:57522217C>A	ENST00000420713.1	+	2	203	c.91C>A	c.(91-93)Caa>Aaa	p.Q31K		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						GGCGGAATGGCAATGCCTGGA	0.368000													6	33					0.00116845	0.00137844	1	1	0
KRTAP13-2	337959	broad.mit.edu	37	21	31744089	31744089	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr21:31744089C>T	ENST00000399889.2	-	1	468	c.443G>A	c.(442-444)cGc>cAc	p.R148H		NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	148						intermediate filament				endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						GTAGGTTGGGCGGCAGAATCC	0.532000													6	42					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1265896	1265896	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:1265896C>A	ENST00000447027.1	+	31	7853	c.7795C>A	c.(7795-7797)Ccc>Acc	p.P2599T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.P2596T			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2596	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.P2596S(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TGTGGCCACCCCCTCCTCCAC	0.652000													16	71					0.000308642	0.000382267	1	1	0
TPTE	7179	broad.mit.edu	37	21	10906930	10906930	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr21:10906930C>A	ENST00000298232.7	-	23	1944	c.1577G>T	c.(1576-1578)aGt>aTt	p.S526I	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.S506I|TPTE_ENST00000361285.4_Missense_Mutation_p.S544I	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	544	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TACAACATCACTGGAAGTCAT	0.388000													4	36					1	1	1	1	0
CNTNAP5	129684	broad.mit.edu	37	2	125367480	125367480	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:125367480T>A	ENST00000431078.1	+	12	2220	c.1856T>A	c.(1855-1857)gTg>gAg	p.V619E		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	619	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CCTCTCCAGGTGTACTGCAAT	0.527000													4	37					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25449569	25449569	+	RNA	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr15:25449569G>A	ENST00000424208.1	+	0	2339				SNORD115-19_ENST00000363098.1_RNA|SNHG14_ENST00000424333.1_RNA	NR_003305.1																						ATTCTCAAAAGGATTATGCTG	0.498000													12	100					0	0	1	0	0
DPYSL4	10570	broad.mit.edu	37	10	134016257	134016257	+	Silent	SNP	G	G	T	rs141190261		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:134016257G>T	ENST00000338492.4	+	12	1553	c.1389G>T	c.(1387-1389)ccG>ccT	p.P463P	DPYSL4_ENST00000368629.1_Intron|DPYSL4_ENST00000368627.1_Intron	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	463					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		TTGTCACCCCGGGGGCGGGCC	0.617000													4	42					0.00909568	0.00998677	1	1	0
SCAP	22937	broad.mit.edu	37	3	47460903	47460903	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:47460903G>T	ENST00000265565.5	-	13	2267	c.1855C>A	c.(1855-1857)Cct>Act	p.P619T	SCAP_ENST00000545718.1_Missense_Mutation_p.P227T|SCAP_ENST00000441517.2_Missense_Mutation_p.P364T	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	619					cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		TCATCCTCAGGCCCCCAGGTT	0.582000													9	40					3.09899e-07	4.6688e-07	1	1	0
RELL2	285613	broad.mit.edu	37	5	141017811	141017811	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:141017811G>A	ENST00000297164.3	+	1	1219	c.19G>A	c.(19-21)Gac>Aac	p.D7N	RELL2_ENST00000444782.1_Missense_Mutation_p.D7N|RELL2_ENST00000518856.1_Intron|RELL2_ENST00000518025.1_3'UTR|RELL2_ENST00000521367.1_Intron	NM_173828.4	NP_776189.3	Q8NC24	RELL2_HUMAN	RELT-like 2	7						integral to membrane|plasma membrane				large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCACAGCCTGACCTGGAACC	0.622000													9	66					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62453100	62453100	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:62453100G>T	ENST00000512091.1	+	4	958	c.211G>T	c.(211-213)Gct>Tct	p.A71S	LPHN3_ENST00000507164.1_Missense_Mutation_p.A139S|LPHN3_ENST00000514996.1_Missense_Mutation_p.A71S|LPHN3_ENST00000506720.1_Missense_Mutation_p.A139S|LPHN3_ENST00000506700.1_Missense_Mutation_p.A71S|LPHN3_ENST00000511324.1_Missense_Mutation_p.A139S|LPHN3_ENST00000504896.1_Missense_Mutation_p.A71S|LPHN3_ENST00000509896.1_Missense_Mutation_p.A139S|LPHN3_ENST00000508946.1_Missense_Mutation_p.A71S|LPHN3_ENST00000506746.1_Missense_Mutation_p.A139S|LPHN3_ENST00000545650.1_Missense_Mutation_p.A71S|LPHN3_ENST00000514591.1_Missense_Mutation_p.A71S|LPHN3_ENST00000507625.1_Missense_Mutation_p.A139S|LPHN3_ENST00000508693.1_Missense_Mutation_p.A139S|LPHN3_ENST00000514157.1_Missense_Mutation_p.A71S			Q9HAR2	LPHN3_HUMAN	latrophilin 3	71	SUEL-type lectin.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CTCTGACCCTGCTCAGATGGA	0.398000													4	13					0.00909568	0.00998677	1	1	0
HIST1H3D	8351	broad.mit.edu	37	6	26197426	26197426	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:26197426C>T	ENST00000377831.5	-	2	506	c.53G>A	c.(52-54)cGc>cAc	p.R18H	HIST1H3D_ENST00000356476.2_Missense_Mutation_p.R18H	NM_003530.3	NP_003521.2	P68431	H31_HUMAN	histone cluster 1, H3d	18					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)	14		all_hematologic(11;0.196)				CAGCTGCTTGCGTGGCGCTTT	0.612000													6	58					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33878308	33878308	+	Silent	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr15:33878308G>T	ENST00000389232.4	+	16	1849	c.1779G>T	c.(1777-1779)cgG>cgT	p.R593R	RYR3_ENST00000415757.3_Silent_p.R593R	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	593	B30.2/SPRY 1.				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)		AGCACGGGCGGAATCACAAGG	0.463000													3	22					6.4e-05	8.33271e-05	1	1	0
C15orf54	400360	broad.mit.edu	37	15	39544644	39544644	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr15:39544644T>C	ENST00000318578.3	+	2	676	c.308T>C	c.(307-309)aTa>aCa	p.I103T	RP11-624L4.1_ENST00000560484.1_RNA|RP11-624L4.1_ENST00000561058.1_RNA|RP11-624L4.1_ENST00000558209.1_RNA|C15orf54_ENST00000561223.1_Missense_Mutation_p.I103T	NM_207445.2	NP_997328.1	Q8N8G6	CO054_HUMAN	chromosome 15 open reading frame 54	103										NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)		GGAGAAGTCATAAACAAAGAA	0.413000													16	94					0	0	1	0	0
MICU2	221154	broad.mit.edu	37	13	22088519	22088519	+	Silent	SNP	T	T	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr13:22088519T>G	ENST00000382374.4	-	7	701	c.636A>C	c.(634-636)acA>acC	p.T212T		NM_152726.2	NP_689939.1			mitochondrial calcium uptake 2																		TAGTTTTCACTGTCATCAAGT	0.313000													4	30					0	0	1	0	0
PKLR	5313	broad.mit.edu	37	1	155271182	155271182	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:155271182G>A	ENST00000342741.4	-	1	43	c.5C>T	c.(4-6)tCg>tTg	p.S2L		NM_000298.5	NP_000289.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	2					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	CTCCTGGATCGACATGCTTTC	0.512000													6	30					0	0	1	0	0
BTNL9	153579	broad.mit.edu	37	5	180477327	180477327	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:180477327C>T	ENST00000327705.9	+	4	925	c.694C>T	c.(694-696)Ctc>Ttc	p.L232F	BTNL9_ENST00000376842.3_Missense_Mutation_p.L232F|BTNL9_ENST00000376841.2_Missense_Mutation_p.L232F|BTNL9_ENST00000515271.1_Missense_Mutation_p.L163F	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	232						integral to membrane				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CATCCAGAATCTCCTCTTGAG	0.527000													7	48					0	0	1	0	0
IGDCC4	57722	broad.mit.edu	37	15	65703521	65703521	+	Silent	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr15:65703521G>A	ENST00000352385.2	-	2	467	c.258C>T	c.(256-258)caC>caT	p.H86H		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	86	Ig-like C2-type 1.					integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TGGGCAGCAGGTGTAAGTGGT	0.612000													4	38					0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31601198	31601198	+	Silent	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:31601198C>T	ENST00000376033.2	+	17	4596	c.4362C>T	c.(4360-4362)ccC>ccT	p.P1454P	PRRC2A_ENST00000376007.4_Silent_p.P1454P	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1454	4 X 57 AA type A repeats.|Poly-Pro.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CCCTGCCTCCCCCACCTCCCA	0.572000													5	39					0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58208088	58208088	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr13:58208088C>A	ENST00000377918.3	+	1	1434	c.1408C>A	c.(1408-1410)Cct>Act	p.P470T		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	470	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CGACAACCCGCCTCGGTTCAC	0.612000													4	25					0.00909568	0.00998677	1	1	0
BIVM-ERCC5	100533467	broad.mit.edu	37	13	103473469	103473469	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr13:103473469A>G	ENST00000602836.1	+	3	602	c.602A>G	c.(601-603)aAt>aGt	p.N201S	BIVM_ENST00000419638.1_Missense_Mutation_p.M230V|BIVM_ENST00000257336.1_Missense_Mutation_p.M230V|BIVM_ENST00000448849.2_Start_Codon_SNP_p.M1V	NM_001204425.1	NP_001191354.1	Q59FZ7	Q59FZ7_HUMAN		0					nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding										ATACAGCACAATGGGAGCTGG	0.343000													5	33					0	0	1	0	0
LZTFL1	54585	broad.mit.edu	37	3	45872444	45872444	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:45872444T>A	ENST00000296135.6	-	7	735	c.561A>T	c.(559-561)aaA>aaT	p.K187N	LZTFL1_ENST00000539217.1_Missense_Mutation_p.K183N|LZTFL1_ENST00000536047.1_Missense_Mutation_p.K170N|LZTFL1_ENST00000490463.1_5'UTR	NM_001276378.1|NM_020347.2	NP_001263307.1|NP_065080.1	Q9NQ48	LZTL1_HUMAN	leucine zipper transcription factor-like 1	187										endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	8				BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		CTTGCAGTGCTTTTTCTAGTT	0.313000													3	16					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141245234	141245234	+	Silent	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:141245234G>T	ENST00000389484.3	-	58	10166	c.9195C>A	c.(9193-9195)ccC>ccA	p.P3065P		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3065					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GACTGCCATTGGGTCGGCTAG	0.318000										TSP Lung(27;0.18)			4	31					0.00909568	0.00998677	1	1	0
UNC79	57578	broad.mit.edu	37	14	94158124	94158124	+	Silent	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr14:94158124C>T	ENST00000553484.1	+	48	7639	c.7485C>T	c.(7483-7485)ttC>ttT	p.F2495F	UNC79_ENST00000256339.4_Silent_p.F2296F|UNC79_ENST00000393151.2_Silent_p.F2473F|UNC79_ENST00000555664.1_Silent_p.F2434F			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2473						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GCTCCCTCTTCCACGCGTTCA	0.537000													8	35					0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63950815	63950815	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr15:63950815C>G	ENST00000443617.2	-	48	9614	c.9527G>C	c.(9526-9528)aGa>aCa	p.R3176T		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3176					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						AGCAGTCACTCTCCTTAAAGC	0.512000													5	25					0	0	1	0	0
NISCH	11188	broad.mit.edu	37	3	52526152	52526152	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:52526152A>C	ENST00000345716.4	+	21	4303	c.4169A>C	c.(4168-4170)tAc>tCc	p.Y1390S	NISCH_ENST00000479054.1_Missense_Mutation_p.Y1390S	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN	nischarin	1390					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		TGTGTCCACTACCCACTGCCC	0.667000													10	45					0	0	1	0	0
MYO10	4651	broad.mit.edu	37	5	16670713	16670713	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:16670713G>T	ENST00000513610.1	-	39	6259	c.5805C>A	c.(5803-5805)aaC>aaA	p.N1935K	MYO10_ENST00000515803.1_Missense_Mutation_p.N1274K|MYO10_ENST00000427430.2_Missense_Mutation_p.N1292K|MYO10_ENST00000505695.1_Missense_Mutation_p.N1274K|MYO10_ENST00000274203.9_Missense_Mutation_p.N1292K	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1935	FERM.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CCTGTTCCTGGTTCATTCCCT	0.527000													8	31					5.18039e-06	7.33556e-06	1	1	0
CDS1	1040	broad.mit.edu	37	4	85562099	85562099	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:85562099C>T	ENST00000295887.5	+	10	1411	c.988C>T	c.(988-990)Cag>Tag	p.Q330*		NM_001263.3	NP_001254.2	Q92903	CDS1_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1	330					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		TTTCCAGCTTCAGACTTACTC	0.418000													6	63					0	0	1	0	0
CNKSR2	22866	broad.mit.edu	37	X	21627270	21627270	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:21627270G>T	ENST00000425654.2	+	19	2617	c.2137G>T	c.(2137-2139)Gag>Tag	p.E713*	CNKSR2_ENST00000279451.4_Nonsense_Mutation_p.E743*|CNKSR2_ENST00000379510.3_Nonsense_Mutation_p.E743*|CNKSR2_ENST00000543067.1_Nonsense_Mutation_p.E694*	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	743					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						GTCTTCTCATGAGGAGTTTCG	0.532000													7	45					8.12818e-05	0.000104036	1	1	0
TBL1XR1	79718	broad.mit.edu	37	3	176768329	176768329	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:176768329C>A	ENST00000430069.1	-	6	756	c.497G>T	c.(496-498)cGg>cTg	p.R166L	TBL1XR1_ENST00000457928.2_Missense_Mutation_p.R166L			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	166					canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			TTCATGGCCCCGCAACACAAC	0.398000													4	26					0.00024832	0.000309642	1	1	0
CCDC171	203238	broad.mit.edu	37	9	15695295	15695295	+	Silent	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:15695295G>C	ENST00000380701.3	+	11	1606	c.1278G>C	c.(1276-1278)tcG>tcC	p.S426S	CCDC171_ENST00000297641.3_Silent_p.S426S	NM_173550.2	NP_775821.2	Q6TFL3	CI093_HUMAN	coiled-coil domain containing 171	426																	AATTGGAATCGATCTTGGACA	0.383000													18	40					0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	94066539	94066539	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:94066539G>T	ENST00000369303.4	-	5	1404	c.1220C>A	c.(1219-1221)gCc>gAc	p.A407D		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	407	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		ATTAGCGTGGGCTAGCAGGTC	0.478000													8	29					0.00307968	0.00354221	1	1	0
HTR2C	3358	broad.mit.edu	37	X	113965752	113965752	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:113965752C>A	ENST00000276198.1	+	4	813	c.85C>A	c.(85-87)Cca>Aca	p.P29T	HTR2C_ENST00000371951.1_Missense_Mutation_p.P29T|HTR2C_ENST00000371950.3_Missense_Mutation_p.P29T	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	29					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	TTCTGTGAGCCCAGTAGCAGC	0.383000													11	45					9.70103e-10	1.58072e-09	1	1	0
THSD7A	221981	broad.mit.edu	37	7	11521582	11521582	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:11521582C>G	ENST00000423059.3	-	7	2101	c.1850G>C	c.(1849-1851)aGa>aCa	p.R617T	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	617						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GATGGCATCTCTGCACAGCTG	0.493000										HNSCC(18;0.044)			3	23					0	0	1	0	0
SERPINA12	145264	broad.mit.edu	37	14	94964292	94964292	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr14:94964292C>G	ENST00000341228.2	-	3	1238	c.443G>C	c.(442-444)cGt>cCt	p.R148P	SERPINA12_ENST00000556881.1_Missense_Mutation_p.R148P	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	148					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)		CAAAAACTTACGCTGTGGCTG	0.468000													7	72					0	0	1	0	0
PLCXD3	345557	broad.mit.edu	37	5	41382432	41382432	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:41382432G>T	ENST00000377801.3	-	2	382	c.308C>A	c.(307-309)cCc>cAc	p.P103H	PLCXD3_ENST00000328457.3_Missense_Mutation_p.P103H			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	103	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GGGGTCTCTGGGCTTGGTGGA	0.438000													10	80					7.48243e-07	1.10552e-06	1	1	0
AMDHD1	144193	broad.mit.edu	37	12	96350685	96350685	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:96350685C>T	ENST00000266736.2	+	4	638	c.532C>T	c.(532-534)Cgg>Tgg	p.R178W		NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	178					histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						GCGCGCCCGGCGGGAGCTGGA	0.602000													13	97					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10322097	10322097	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:10322097C>G	ENST00000403437.2	-	5	470	c.376G>C	c.(376-378)Gtc>Ctc	p.V126L	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	126	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTGACGGTGACACAGAAGAGG	0.512000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				14	99					0	0	1	0	0
NOC2L	26155	broad.mit.edu	37	1	887966	887966	+	Silent	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:887966C>A	ENST00000327044.6	-	10	1066	c.1017G>T	c.(1015-1017)acG>acT	p.T339T		NM_015658.3	NP_056473.2	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	339						nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	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)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		TCCTCACATACGTGATGTACA	0.627000													4	40					0.00909568	0.00998677	1	1	0
GBP1P1	400759	broad.mit.edu	37	1	89890146	89890146	+	RNA	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:89890146C>T	ENST00000513638.1	+	0	887					NR_003133.2																						TTTTCAATTCCTGTCTGTCCA	0.448000													3	21					0	0	1	0	0
OR4A5	81318	broad.mit.edu	37	11	51412329	51412329	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:51412329T>G	ENST00000319760.6	-	1	119	c.67A>C	c.(67-69)Aaa>Caa	p.K23Q		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	23			K -> N (in dbSNP:rs56302591).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				AATAATGCTTTTTGCACACCA	0.428000													5	36					0	0	1	0	0
TEX13A	56157	broad.mit.edu	37	X	104464339	104464339	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:104464339G>C	ENST00000372578.3	-	3	650	c.539C>G	c.(538-540)gCg>gGg	p.A180G	TEX13A_ENST00000372575.1_Missense_Mutation_p.A180G|IL1RAPL2_ENST00000372582.1_Intron|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000413579.1_Missense_Mutation_p.A180G	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN	testis expressed 13A	180						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						AGCCACCGCCGCCTCTTCTTC	0.652000													6	13					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179587665	179587665	+	Splice_Site	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:179587665C>A	ENST00000589042.1	-	76	22186		c.e76-1		TTN_ENST00000591111.1_Splice_Site|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Splice_Site|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin								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)			TAAGGCGGTTCTAAGGAAGAA	0.393000													5	20					0.184627	0.188945	1	1	0
CDX4	1046	broad.mit.edu	37	X	72667520	72667520	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:72667520C>T	ENST00000373514.2	+	1	431	c.431C>T	c.(430-432)gCc>gTc	p.A144V		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	144						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					GCAGGCGCCGCCAAGGCCAGT	0.652000													4	12					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45396631	45396631	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:45396631T>A	ENST00000303230.4	-	4	1250	c.1193A>T	c.(1192-1194)cAg>cTg	p.Q398L		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	398						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						ATCCAGAGACTGGATTAAAGC	0.478000													6	35					0	0	1	0	0
OR4C6	219432	broad.mit.edu	37	11	55432908	55432908	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:55432908C>G	ENST00000314259.3	+	1	295	c.266C>G	c.(265-267)aCc>aGc	p.T89S		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						AAGAGCACTACCATCTCTCTC	0.493000													12	79					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55533787	55533787	+	Silent	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:55533787G>A	ENST00000220676.1	+	2	409	c.261G>A	c.(259-261)cgG>cgA	p.R87R		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	87	Doublecortin 1.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GCACCCCTCGGGGCAGGCACA	0.592000													7	58					0	0	1	0	0
ZNF799	90576	broad.mit.edu	37	19	12501532	12501532	+	Silent	SNP	A	A	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:12501532A>G	ENST00000419318.1	-	4	2333	c.1584T>C	c.(1582-1584)taT>taC	p.Y528Y	ZNF799_ENST00000430385.3_Silent_p.Y560Y|CTD-3105H18.14_ENST00000435033.1_Intron			Q96GE5	ZN799_HUMAN	zinc finger protein 799	560					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						GTTGACACTCATAGGGTTTCT	0.418000													11	125					0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142638490	142638490	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:142638490C>T	ENST00000355265.2	-	19	2522	c.2048G>A	c.(2047-2049)aGg>aAg	p.R683K		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	683					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GCTGGGCTTCCTACACATCAC	0.607000													4	53					0	0	1	0	0
CDH17	1015	broad.mit.edu	37	8	95164106	95164106	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:95164106G>T	ENST00000027335.3	-	13	1910	c.1786C>A	c.(1786-1788)Ctg>Atg	p.L596M	CDH17_ENST00000441892.2_Missense_Mutation_p.L382M|CDH17_ENST00000450165.2_Missense_Mutation_p.L596M	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	596	Cadherin 6.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CTTATGTCCAGACCTTCTGGA	0.547000													13	35					7.03913e-09	1.12308e-08	1	1	0
KIF16B	55614	broad.mit.edu	37	20	16506793	16506793	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr20:16506793C>G	ENST00000354981.2	-	3	332	c.175G>C	c.(175-177)Gac>Cac	p.D59H	KIF16B_ENST00000408042.1_Missense_Mutation_p.D59H|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Missense_Mutation_p.D59H	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	59	Kinesin-motor.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						AAAGAAAAGTCATAGGTGAAG	0.328000													10	75					0	0	1	0	0
SNX4	8723	broad.mit.edu	37	3	125208297	125208297	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:125208297C>A	ENST00000251775.4	-	6	632	c.608G>T	c.(607-609)aGg>aTg	p.R203M	SNX4_ENST00000473417.1_Intron|SNX4_ENST00000536067.1_Missense_Mutation_p.R58M	NM_003794.2	NP_003785.1	O95219	SNX4_HUMAN	sorting nexin 4	203					cell communication|endocytic recycling|endocytosis|protein transport	cytoplasmic dynein complex|early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1)	11						CGCTTTTAACCTGGAGTCTGC	0.313000													3	27					1	1	1	1	0
CARD9	64170	broad.mit.edu	37	9	139264313	139264313	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:139264313C>A	ENST00000371732.5	-	7	1131	c.966G>T	c.(964-966)aaG>aaT	p.K322N	CARD9_ENST00000371734.3_Missense_Mutation_p.K322N|CARD9_ENST00000315908.7_Missense_Mutation_p.K322N	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	322					positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		CGAACATCTCCTTCTCCTCCA	0.627000													3	19					6.4e-05	8.33271e-05	1	1	0
NR1I2	8856	broad.mit.edu	37	3	119526084	119526084	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:119526084G>A	ENST00000337940.4	+	2	152	c.104G>A	c.(103-105)gGc>gAc	p.G35D	NR1I2_ENST00000393716.2_5'UTR|NR1I2_ENST00000466380.1_5'UTR	NM_022002.2	NP_071285.1	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	0					drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)	AGTCCAAGAGGCCCAGAAGCA	0.493000													4	33					0	0	1	0	0
PRSS58	136541	broad.mit.edu	37	7	141955030	141955030	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:141955030G>T	ENST00000552471.1	-	3	600	c.281C>A	c.(280-282)tCa>tAa	p.S94*	PRSS58_ENST00000547058.2_Nonsense_Mutation_p.S94*			Q8IYP2	PRS58_HUMAN	protease, serine, 58	94	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						AGAAGTGACTGAGAAGTGTGG	0.418000													11	84					9.70103e-10	1.58072e-09	1	1	0
LUC7L	55692	broad.mit.edu	37	16	242964	242964	+	Silent	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr16:242964C>T	ENST00000337351.4	-	7	861	c.738G>A	c.(736-738)agG>agA	p.R246R	LUC7L_ENST00000293872.8_Silent_p.R246R|LUC7L_ENST00000397780.1_Silent_p.R193R|LUC7L_ENST00000397783.1_Silent_p.R246R	NM_018032.3	NP_060502.1	Q9NQ29	LUC7L_HUMAN	LUC7-like (S. cerevisiae)	246	Arg/Ser-rich.						metal ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	11		all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				TCTCCTCTCTCCTCCTCAAGC	0.522000													15	76					0	0	1	0	0
MYBPC2	4606	broad.mit.edu	37	19	50944198	50944198	+	Missense_Mutation	SNP	C	C	A	rs143152934	by1000genomes	TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:50944198C>A	ENST00000357701.5	+	8	685	c.634C>A	c.(634-636)Ccg>Acg	p.P212T		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	212					cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		AGGCATCCCCCCGGAGATTTG	0.582000													3	21					1	1	1	1	0
DNMT1	1786	broad.mit.edu	37	19	10271081	10271081	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:10271081C>A	ENST00000340748.4	-	13	1209	c.974G>T	c.(973-975)cGc>cTc	p.R325L	DNMT1_ENST00000359526.4_Missense_Mutation_p.R341L|DNMT1_ENST00000540357.1_Missense_Mutation_p.R325L			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	325	Homodimerization.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	GGTCGTTTTGCGTCTCTTCTC	0.388000													3	29					0.115264	0.120372	1	1	0
RAD23A	5886	broad.mit.edu	37	19	13063836	13063836	+	Silent	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:13063836C>A	ENST00000586534.1	+	9	1126	c.1065C>A	c.(1063-1065)ctC>ctA	p.L355L	RAD23A_ENST00000541222.1_Silent_p.L190L|RAD23A_ENST00000592268.1_Silent_p.L300L|RAD23A_ENST00000316856.3_Silent_p.L354L			P54725	RD23A_HUMAN	RAD23 homolog A (S. cerevisiae)	355	HIV-1 vpr binding.|UBA 2.				interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						CCAACTTCCTCCTGAGTCAGA	0.483000								Nucleotide excision repair (NER)					6	51					0.00116845	0.00137844	1	1	0
CD248	57124	broad.mit.edu	37	11	66083298	66083298	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:66083298T>G	ENST00000311330.3	-	1	1217	c.1201A>C	c.(1201-1203)Acg>Ccg	p.T401P	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	401	Pro-rich.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	GGCGGCTGCGTAGGCTCCATC	0.627000													6	65					0	0	1	0	0
PANX2	56666	broad.mit.edu	37	22	50615643	50615643	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr22:50615643G>A	ENST00000395842.2	+	2	502	c.502G>A	c.(502-504)Gcg>Acg	p.A168T	PANX2_ENST00000159647.5_Missense_Mutation_p.A168T	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	168					protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		TTACCACCGGGCGGCCGAGGG	0.657000													4	12					0	0	1	0	0
GLYATL1	92292	broad.mit.edu	37	11	58723315	58723315	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:58723315G>T	ENST00000300079.5	+	7	867	c.817G>T	c.(817-819)Ggc>Tgc	p.G273C	RP11-142C4.6_ENST00000533954.1_RNA|GLYATL1_ENST00000317391.4_Missense_Mutation_p.G242C	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	242						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	CCGAAGGACAGGCAACATGGC	0.483000													9	40					0.00448238	0.00513629	1	1	0
NLRP14	338323	broad.mit.edu	37	11	7064265	7064265	+	Missense_Mutation	SNP	G	G	T	rs144493780	byFrequency	TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:7064265G>T	ENST00000299481.4	+	4	1354	c.1008G>T	c.(1006-1008)gaG>gaT	p.E336D		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	336	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)		ATGCAAGAGAGGAGTATATTT	0.398000													7	69					8.12818e-05	0.000104036	1	1	0
TTN	7273	broad.mit.edu	37	2	179451302	179451302	+	Silent	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:179451302C>T	ENST00000589042.1	-	308	64550	c.64326G>A	c.(64324-64326)gcG>gcA	p.A21442A	TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Silent_p.A19801A|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000460472.2_Silent_p.A12377A|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Silent_p.A12569A|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.A18874A|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Silent_p.A12502A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19801	Fibronectin type-III 55.						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)			CATTTCTGGCCGCTACTCTAA	0.438000													8	48					0	0	1	0	0
BICC1	80114	broad.mit.edu	37	10	60558836	60558836	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:60558836C>A	ENST00000373886.3	+	12	1553	c.1549C>A	c.(1549-1551)Ctt>Att	p.L517I	BICC1_ENST00000263103.1_Missense_Mutation_p.L143I	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	517					multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						TATACCACACCTTATGATTCC	0.378000													4	33					0.184627	0.188945	1	1	0
SLFN13	146857	broad.mit.edu	37	17	33768387	33768387	+	Splice_Site	SNP	T	T	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:33768387T>A	ENST00000285013.6	-	6	2198		c.e6-2		SLFN13_ENST00000533791.1_Splice_Site|SLFN13_ENST00000526861.1_Splice_Site|SLFN13_ENST00000542635.1_Splice_Site|SLFN13_ENST00000534689.1_Splice_Site|SLFN13_ENST00000360502.2_Splice_Site	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13							intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TTTCTATCACTGTAAAAATTA	0.383000													7	53					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31323053	31323053	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr18:31323053A>G	ENST00000269197.5	+	12	3241	c.3241A>G	c.(3241-3243)Agc>Ggc	p.S1081G		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1081					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TGCTGCAGCGAGCATTGTCTC	0.587000													4	32					0	0	1	0	0
DOK5	55816	broad.mit.edu	37	20	53208300	53208300	+	Silent	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr20:53208300G>T	ENST00000262593.5	+	5	905	c.555G>T	c.(553-555)cgG>cgT	p.R185R	DOK5_ENST00000395939.1_Silent_p.R77R	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5	185	IRS-type PTB.						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)			GCGCCCTGCGGCGGTATGGAC	0.453000													6	51					0.00116845	0.00137844	1	1	0
COBLL1	22837	broad.mit.edu	37	2	165586547	165586547	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:165586547C>A	ENST00000375458.2	-	3	530	c.309G>T	c.(307-309)ttG>ttT	p.L103F	COBLL1_ENST00000194871.6_Missense_Mutation_p.L156F|COBLL1_ENST00000409184.3_Missense_Mutation_p.L141F|COBLL1_ENST00000342193.4_Missense_Mutation_p.L103F|COBLL1_ENST00000491126.2_Intron|COBLL1_ENST00000392717.2_Missense_Mutation_p.L141F	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	141										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						GTTCAGCTGACAACAGATCGA	0.338000													10	48					1.58986e-06	2.32287e-06	1	1	0
OR5AC2	81050	broad.mit.edu	37	3	97806633	97806633	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:97806633C>G	ENST00000358642.2	+	1	617	c.617C>G	c.(616-618)gCt>gGt	p.A206G		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						ATTTTTGGTGCTTTTATACAA	0.299000													4	50					0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55144595	55144595	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:55144595G>T	ENST00000257290.5	+	15	2400	c.2069G>T	c.(2068-2070)aGg>aTg	p.R690M	FIP1L1_ENST00000507166.1_Missense_Mutation_p.R450M	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	690	Protein kinase.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CATAAGAATAGGGATAGCTTC	0.463000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			6	45					3.59834e-05	4.79257e-05	1	1	0
SYNE1	23345	broad.mit.edu	37	6	152536195	152536195	+	Splice_Site	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:152536195C>A	ENST00000367255.5	-	122	22793	c.22191_splice	c.e122-1	p.G7398_splice	SYNE1_ENST00000341594.5_Splice_Site_p.G7010_splice|SYNE1_ENST00000265368.4_Splice_Site_p.G7398_splice|SYNE1_ENST00000356820.4_Splice_Site_p.G1922_splice|SYNE1_ENST00000448038.1_Splice_Site_p.G7327_splice|SYNE1_ENST00000423061.1_Splice_Site_p.G7327_splice	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7398					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AACATCTGTCCCTAGAAGGAA	0.378000										HNSCC(10;0.0054)			6	67					4.096e-09	6.59234e-09	1	1	0
LRFN5	145581	broad.mit.edu	37	14	42360920	42360920	+	Nonsense_Mutation	SNP	C	C	A	rs143897378		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr14:42360920C>A	ENST00000298119.4	+	4	3042	c.1853C>A	c.(1852-1854)tCg>tAg	p.S618*	LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	618						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GAAACTTGTTCGAGTCAGGAC	0.488000										HNSCC(30;0.082)			3	28					0.004672	0.00531382	1	1	0
SRPK2	6733	broad.mit.edu	37	7	104783613	104783613	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:104783613C>A	ENST00000357311.3	-	9	1116	c.945G>T	c.(943-945)caG>caT	p.Q315H	SRPK2_ENST00000489828.1_Missense_Mutation_p.Q315H|SRPK2_ENST00000393651.3_Missense_Mutation_p.Q326H	NM_001278273.1|NM_182691.1	NP_001265202.1|NP_872633.1	P78362	SRPK2_HUMAN	SRSF protein kinase 2	315	Protein kinase.				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.Q315H(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						ATTCGCCATCCTGGTCATTGG	0.488000													6	81					8.12818e-05	0.000104036	1	1	0
MRPL20	55052	broad.mit.edu	37	1	1341264	1341264	+	Silent	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:1341264G>C	ENST00000482352.1	-	3	273	c.201C>G	c.(199-201)ctC>ctG	p.L67L	MRPL20_ENST00000493287.1_5'UTR|MRPL20_ENST00000344843.7_Silent_p.L67L			Q9BYC9	RM20_HUMAN	mitochondrial ribosomal protein L20	67							protein binding|rRNA binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5	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;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GATTAATCCAGAGCTGAAATA	0.378000													4	59					0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20693763	20693763	+	Silent	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr16:20693763G>A	ENST00000307493.4	-	3	493	c.426C>T	c.(424-426)acC>acT	p.T142T	ACSM1_ENST00000219151.4_5'UTR|ACSM1_ENST00000520010.1_Silent_p.T142T	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	142					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TCAACAGGATGGTCGCAGGAA	0.468000													3	24					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51949723	51949723	+	Silent	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:51949723G>T	ENST00000371117.3	-	2	284	c.9C>A	c.(7-9)gcC>gcA	p.A3A	PKHD1_ENST00000340994.4_Silent_p.A3A	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AGATCAGCCAGGCAGTCATTC	0.363000													7	52					1.6384e-10	2.70807e-10	1	1	0
LRRC6	23639	broad.mit.edu	37	8	133584730	133584730	+	Splice_Site	SNP	T	T	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:133584730T>A	ENST00000519595.1	-	12	1325		c.e12-2		LRRC6_ENST00000518642.1_Splice_Site|LRRC6_ENST00000250173.1_Splice_Site			Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6							cytoplasm				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TGCTTGCTTCTATAACAACAA	0.373000													17	58					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50765424	50765424	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:50765424C>A	ENST00000404971.1	-	11	3569	c.2230G>T	c.(2230-2232)Gga>Tga	p.G744*	NRXN1_ENST00000402717.3_Nonsense_Mutation_p.G696*|NRXN1_ENST00000406859.3_Nonsense_Mutation_p.G704*|NRXN1_ENST00000401669.2_Nonsense_Mutation_p.G704*|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000405472.3_Nonsense_Mutation_p.G696*|NRXN1_ENST00000406316.2_Nonsense_Mutation_p.G704*	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	704	Laminin G-like 4.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TAGCCTGTTCCGGAACAATCA	0.463000													33	134					1.06801e-11	1.77809e-11	1	1	0
PCDHB5	26167	broad.mit.edu	37	5	140515407	140515407	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:140515407C>G	ENST00000231134.5	+	1	608	c.391C>G	c.(391-393)Cca>Gca	p.P131A		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		131	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGACCATGCCCCAGAGTTCCC	0.453000													10	51					0	0	1	0	0
C10orf53	282966	broad.mit.edu	37	10	50916407	50916407	+	Splice_Site	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:50916407G>T	ENST00000374112.3	+	3	230	c.217_splice	c.e3-1	p.G73_splice	C10orf53_ENST00000535836.1_Splice_Site_p.G73_splice	NM_182554.2	NP_872360.2	Q8N6V4	CJ053_HUMAN	chromosome 10 open reading frame 53	76										endometrium(1)|lung(6)	7		all_neural(218;0.107)				ttgttctcaggcaagctcacc	0.488000													9	59					0.00621372	0.00702387	1	1	0
HAO1	54363	broad.mit.edu	37	20	7915269	7915269	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr20:7915269G>A	ENST00000378789.3	-	2	202	c.151C>T	c.(151-153)Cca>Tca	p.P51S		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	51	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AGCATCCTTGGATACAGCTTC	0.383000													7	30					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50280412	50280412	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:50280412G>T	ENST00000404971.1	-	22	5584	c.4245C>A	c.(4243-4245)agC>agA	p.S1415R	NRXN1_ENST00000401710.1_Missense_Mutation_p.S363R|NRXN1_ENST00000402717.3_Missense_Mutation_p.S1367R|NRXN1_ENST00000406859.3_Missense_Mutation_p.S1345R|NRXN1_ENST00000342183.5_Missense_Mutation_p.S310R|NRXN1_ENST00000401669.2_Missense_Mutation_p.S1375R|NRXN1_ENST00000405472.3_Missense_Mutation_p.S1367R|NRXN1_ENST00000406316.2_Missense_Mutation_p.S1345R	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1345					adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GGCTCACCTGGCTAATGGGTT	0.423000													10	60					4.68919e-08	7.32885e-08	1	1	0
TAF2	6873	broad.mit.edu	37	8	120831748	120831748	+	Splice_Site	SNP	T	T	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:120831748T>G	ENST00000378164.2	-	3	437		c.e3-2			NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa						G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CACAAATCCCTGTAAAGATAG	0.313000													8	74					0	0	1	0	0
GRIA3	2892	broad.mit.edu	37	X	122387312	122387312	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:122387312C>A	ENST00000264357.5	+	3	719	c.427C>A	c.(427-429)Cca>Aca	p.P143T	GRIA3_ENST00000479118.1_3'UTR|GRIA3_ENST00000542149.1_Missense_Mutation_p.P143T|GRIA3_ENST00000371256.5_Missense_Mutation_p.P143T|GRIA3_ENST00000371251.1_Missense_Mutation_p.P143T|GRIA3_ENST00000541091.1_Missense_Mutation_p.P127T	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	143					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)	CCAGATGCGCCCAGCCTTGAA	0.522000													10	33					4.68919e-08	7.32885e-08	1	1	0
DNAH3	55567	broad.mit.edu	37	16	21136649	21136649	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr16:21136649C>A	ENST00000261383.3	-	9	1250	c.1251G>T	c.(1249-1251)gaG>gaT	p.E417D	CTC-508F8.1_ENST00000575612.1_RNA|DNAH3_ENST00000415178.1_Missense_Mutation_p.E417D	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	417	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GAATCCAGTGCTCCTTCCGTG	0.502000													5	35					1	1	1	1	0
PCDHB13	56123	broad.mit.edu	37	5	140595731	140595731	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:140595731C>A	ENST00000341948.4	+	1	2223	c.2036C>A	c.(2035-2037)aCc>aAc	p.T679N		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		679					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGGCCCCGACCCAGGCCCAG	0.692000													14	104					1.15088e-07	1.7657e-07	1	1	0
MTERFD3	80298	broad.mit.edu	37	12	107371512	107371512	+	Silent	SNP	T	T	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:107371512T>A	ENST00000552029.1	-	2	3049	c.981A>T	c.(979-981)ccA>ccT	p.P327P	MTERFD3_ENST00000240050.4_Silent_p.P327P|MTERFD3_ENST00000392830.2_Silent_p.P327P|C12orf23_ENST00000551237.1_Intron			Q49AM1	MTER3_HUMAN	MTERF domain containing 3	327					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						GTACTATCTGTGGTGTTAATT	0.368000													16	114					0	0	1	0	0
HIST1H2BI	8346	broad.mit.edu	37	6	26273543	26273543	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:26273543G>A	ENST00000377733.2	+	1	400	c.340G>A	c.(340-342)Gag>Aag	p.E114K		NM_003525.2	NP_003516.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bi	114					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(1)|lung(8)|urinary_tract(1)	16						CGCGGTGTCGGAGGGCACCAA	0.572000													6	53					0	0	1	0	0
WBP11P1	441818	broad.mit.edu	37	18	30092734	30092734	+	RNA	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr18:30092734C>A	ENST00000567636.1	+	0	1109					NR_003558.1																						TGCAGATATGCCTGGAAAATC	0.473000													5	32					0.014758	0.0159185	1	1	0
ASTN1	460	broad.mit.edu	37	1	176863966	176863966	+	Splice_Site	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:176863966C>A	ENST00000367654.2	-	17	2709	c.2695_splice	c.e17-1	p.G899_splice	ASTN1_ENST00000361833.2_Splice_Site_p.G891_splice|ASTN1_ENST00000424564.2_Splice_Site_p.G891_splice|ASTN1_ENST00000367657.3_Splice_Site_p.G891_splice			O14525	ASTN1_HUMAN	astrotactin 1	899					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						TGGGGAGTTGCCTGCAGACAC	0.512000													6	50					0.217242	0.220847	1	1	0
PREX2	80243	broad.mit.edu	37	8	69046472	69046472	+	Silent	SNP	T	T	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:69046472T>G	ENST00000288368.4	+	32	4222	c.3945T>G	c.(3943-3945)ggT>ggG	p.G1315G		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1315					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CGAATGCAGGTGTTCTTTTTC	0.463000													7	45					0	0	1	0	0
PARL	55486	broad.mit.edu	37	3	183580544	183580544	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:183580544T>A	ENST00000317096.4	-	4	568	c.508A>T	c.(508-510)Aca>Tca	p.T170S	PARL_ENST00000311101.5_Missense_Mutation_p.T170S|PARL_ENST00000435888.1_Missense_Mutation_p.T170S	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like	170					proteolysis	integral to membrane|mitochondrial inner membrane|nucleus	serine-type endopeptidase activity			endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CACAAACCTGTCACAGTCCGC	0.403000													8	44					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31768095	31768095	+	Silent	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:31768095G>A	ENST00000240587.4	-	2	2931	c.2604C>T	c.(2602-2604)atC>atT	p.I868I		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	868					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					ACTTCTCGGAGATGCTGGAAG	0.567000													10	54					0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196654239	196654239	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:196654239C>A	ENST00000367429.4	+	7	1076	c.836C>A	c.(835-837)cCt>cAt	p.P279H	CFH_ENST00000439155.2_Missense_Mutation_p.P279H|CFH_ENST00000359637.2_Missense_Mutation_p.P215H	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	279	Sushi 5.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GACTACTCACCTTTAAGGATT	0.338000													4	61					0.150653	0.155562	1	1	0
TP53	7157	broad.mit.edu	37	17	7578455	7578455	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:7578455C>G	ENST00000420246.2	-	5	607	c.475G>C	c.(475-477)Gcc>Ccc	p.A159P	TP53_ENST00000359597.4_Missense_Mutation_p.A159P|TP53_ENST00000455263.2_Missense_Mutation_p.A159P|TP53_ENST00000413465.2_Missense_Mutation_p.A159P|TP53_ENST00000445888.2_Missense_Mutation_p.A159P|TP53_ENST00000269305.4_Missense_Mutation_p.A159P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	159	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		A -> D (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|A -> G (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (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.A159P(19)|p.0?(8)|p.A159T(7)|p.R158fs(6)|p.R158fs*11(6)|p.A159fs*11(4)|p.A159S(4)|p.R65fs(2)|p.A27P(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.R26fs(2)|p.A66P(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.R65fs*11(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.A159_Q167delAMAIYKQSQ(1)|p.V157fs*21(1)|p.R158fs*8(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)		ATGGCCATGGCGCGGACGCGG	0.627000		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)			7	27					0	0	1	0	0
PTPRM	5797	broad.mit.edu	37	18	8394532	8394532	+	Silent	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr18:8394532C>A	ENST00000332175.8	+	30	5265	c.4228C>A	c.(4228-4230)Cgg>Agg	p.R1410R	PTPRM_ENST00000580170.1_Silent_p.R1423R|PTPRM_ENST00000400053.4_Silent_p.R1348R|PTPRM_ENST00000400060.4_Silent_p.R1424R|PTPRM_ENST00000444013.1_Silent_p.R1197R	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1410	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TGAGATGCTCCGGCACCAGAG	0.557000													5	27					3.59834e-05	4.79257e-05	1	1	0
GNG13	51764	broad.mit.edu	37	16	848821	848821	+	Silent	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr16:848821C>T	ENST00000248150.4	-	3	203	c.102G>A	c.(100-102)ctG>ctA	p.L34L		NM_016541.2	NP_057625.1	Q9P2W3	GBG13_HUMAN	guanine nucleotide binding protein (G protein), gamma 13	34					cellular response to glucagon stimulus|energy reserve metabolic process		signal transducer activity			ovary(1)	1		Hepatocellular(780;0.00335)				TCCACTTCAGCAGCCTGCGGG	0.637000													9	53					0	0	1	0	0
PRICKLE1	144165	broad.mit.edu	37	12	42853666	42853666	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:42853666G>T	ENST00000455697.1	-	8	2726	c.2441C>A	c.(2440-2442)aCa>aAa	p.T814K	PRICKLE1_ENST00000445766.2_Missense_Mutation_p.T814K|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.T814K|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.T814K|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.T814K	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	814					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		GGATTTTGTTGTCCTCTGACC	0.428000													11	87					1.58986e-06	2.32287e-06	1	1	0
MTUS1	57509	broad.mit.edu	37	8	17612165	17612165	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:17612165C>G	ENST00000381869.3	-	2	1625	c.1152G>C	c.(1150-1152)aaG>aaC	p.K384N	MTUS1_ENST00000262102.6_Missense_Mutation_p.K384N|MTUS1_ENST00000519263.1_Missense_Mutation_p.K384N|MTUS1_ENST00000381862.3_Missense_Mutation_p.K384N	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	384						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		TTCCCAAATCCTTTCCTTTGG	0.448000													8	36					0	0	1	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20495386	20495386	+	RNA	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr15:20495386G>C	ENST00000555186.1	+	0	589					NR_038836.1																						TGAAGAGAAAGTTTCAAGATC	0.418000													5	74					0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61851570	61851570	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr16:61851570G>A	ENST00000577390.1	-	7	2044	c.1090C>T	c.(1090-1092)Cca>Tca	p.P364S	CDH8_ENST00000299345.6_Missense_Mutation_p.P364S|CDH8_ENST00000584337.1_Missense_Mutation_p.P364S|CDH8_ENST00000577730.1_Missense_Mutation_p.P364S	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	364	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CTGAAGCGTGGGTCAATATGG	0.473000													8	34					0	0	1	0	0
NKG7	4818	broad.mit.edu	37	19	51875749	51875749	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:51875749A>G	ENST00000221978.5	-	1	220	c.41T>C	c.(40-42)cTg>cCg	p.L14P	NKG7_ENST00000595217.1_Missense_Mutation_p.L14P|NKG7_ENST00000600427.1_Missense_Mutation_p.L14P	NM_005601.3	NP_005592.1	Q16617	NKG7_HUMAN	natural killer cell group 7 sequence	14						integral to plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CATCAGGCCCAGGGAGCCCCC	0.617000													6	40					0	0	1	0	0
PCNX	22990	broad.mit.edu	37	14	71542912	71542912	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr14:71542912A>G	ENST00000304743.2	+	28	5559	c.5113A>G	c.(5113-5115)Att>Gtt	p.I1705V	PCNX_ENST00000238570.5_Missense_Mutation_p.I1633V|PCNX_ENST00000439984.3_Missense_Mutation_p.I1594V	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1705						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TTAGGGTATCATTTATTATGT	0.328000													4	42					0	0	1	0	0
DAAM2	23500	broad.mit.edu	37	6	39869653	39869653	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:39869653C>A	ENST00000538976.1	+	25	3226	c.3044C>A	c.(3043-3045)tCg>tAg	p.S1015*	DAAM2_ENST00000274867.4_Nonsense_Mutation_p.S1016*|DAAM2_ENST00000398904.2_Nonsense_Mutation_p.S1016*	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	1016					actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					GCAGGCAGCTCGCTGGAGGAG	0.647000													4	20					0.00024832	0.000309642	1	1	0
RAPH1	65059	broad.mit.edu	37	2	204354463	204354463	+	Silent	SNP	T	T	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:204354463T>A	ENST00000319170.5	-	4	875	c.576A>T	c.(574-576)tcA>tcT	p.S192S	RAPH1_ENST00000423104.1_Silent_p.S192S|RAPH1_ENST00000457812.1_Silent_p.S192S|RAPH1_ENST00000374489.2_Silent_p.S192S|RAPH1_ENST00000453034.1_Silent_p.S192S|RAPH1_ENST00000419464.1_Silent_p.S192S|RAPH1_ENST00000374488.2_Silent_p.S192S|RAPH1_ENST00000439222.1_Silent_p.S192S|RAPH1_ENST00000374493.3_Silent_p.S192S|RAPH1_ENST00000308091.4_Silent_p.S192S|RAPH1_ENST00000418114.1_Silent_p.S192S	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	192					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTGTGCCTGCTGACGCGGTTC	0.453000													7	71					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11865334	11865334	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:11865334G>A	ENST00000262442.3	+	68	13062	c.12994G>A	c.(12994-12996)Gag>Aag	p.E4332K	DNAH9_ENST00000454412.2_Missense_Mutation_p.E4256K|DNAH9_ENST00000396001.2_Missense_Mutation_p.E644K|RP11-1096G20.5_ENST00000580270.1_RNA	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4332					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E4332Q(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAAGGAGCTAGAGGCTTGGAC	0.577000													4	58					0	0	1	0	0
LAIR1	3903	broad.mit.edu	37	19	54872773	54872773	+	Silent	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:54872773C>G	ENST00000391743.3	-	2	340	c.60G>C	c.(58-60)gtG>gtC	p.V20V	LAIR1_ENST00000313038.6_Silent_p.V31V|LAIR1_ENST00000474878.1_Silent_p.V37V|LAIR1_ENST00000463489.1_5'UTR|LAIR1_ENST00000348231.4_Silent_p.V38V|LAIR1_ENST00000434277.2_Silent_p.V37V|LAIR1_ENST00000391742.2_Silent_p.V38V			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	38						integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		CCAGGGGGATCACGGTGCCTG	0.582000													12	94					0	0	1	0	0
PROKR2	128674	broad.mit.edu	37	20	5282735	5282735	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr20:5282735G>T	ENST00000546004.1	-	3	1352	c.1106C>A	c.(1105-1107)aCc>aAc	p.T369N	PROKR2_ENST00000217270.3_Missense_Mutation_p.T369N			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	369						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						CACCCCGTTGGTTCTGAGGTC	0.542000										HNSCC(71;0.22)			7	38					8.12818e-05	0.000104036	1	1	0
ASIC3	9311	broad.mit.edu	37	7	150747283	150747283	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:150747283G>A	ENST00000357922.4	+	2	1219	c.625G>A	c.(625-627)Ggg>Agg	p.G209R	ASIC3_ENST00000349064.5_Missense_Mutation_p.G209R|ASIC3_ENST00000297512.8_Missense_Mutation_p.G209R	NM_020322.3	NP_064718.1	Q9UHC3	ACCN3_HUMAN	acid-sensing (proton-gated) ion channel 3	209					sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity										CATGGGCAATGGGCTGGACAT	0.582000													5	49					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113293531	113293531	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:113293531C>T	ENST00000297405.5	-	59	9624	c.9380G>A	c.(9379-9381)cGa>cAa	p.R3127Q	CSMD3_ENST00000455883.2_Missense_Mutation_p.R2958Q|CSMD3_ENST00000343508.3_Missense_Mutation_p.R3087Q|CSMD3_ENST00000352409.3_Missense_Mutation_p.R3057Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3127	Sushi 23.					integral to membrane|plasma membrane		p.R3087L(1)|p.R3127L(1)		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						GCCATCAATTCGGAAGACTTT	0.398000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			6	33					0	0	1	0	0
KIDINS220	57498	broad.mit.edu	37	2	8890400	8890400	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:8890400C>G	ENST00000256707.3	-	24	3437	c.3256G>C	c.(3256-3258)Gag>Cag	p.E1086Q	KIDINS220_ENST00000473731.1_Missense_Mutation_p.E1086Q|KIDINS220_ENST00000427284.1_Missense_Mutation_p.E1086Q|KIDINS220_ENST00000418530.1_Missense_Mutation_p.E1044Q	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1086					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GGAGGACCCTCATGTAGAGGG	0.582000													5	40					0	0	1	0	0
DNAJC12	56521	broad.mit.edu	37	10	69565540	69565540	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:69565540C>A	ENST00000225171.2	-	4	455	c.303G>T	c.(301-303)atG>atT	p.M101I	DNAJC12_ENST00000483798.2_Missense_Mutation_p.M131I	NM_021800.2	NP_068572.1	Q9UKB3	DJC12_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 12	101					protein folding		heat shock protein binding|unfolded protein binding			breast(2)|kidney(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	12						CAACCCAGTGCATTGACTAAA	0.323000													6	71					2.0095e-06	2.90366e-06	1	1	0
OR5H14	403273	broad.mit.edu	37	3	97868351	97868351	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:97868351G>C	ENST00000437310.1	+	1	182	c.122G>C	c.(121-123)gGg>gCg	p.G41A		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						ACCATCATGGGGAATCTTGGT	0.403000													17	201					0	0	1	0	0
MAML2	84441	broad.mit.edu	37	11	95825981	95825981	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:95825981G>A	ENST00000524717.1	-	2	2498	c.1214C>T	c.(1213-1215)cCt>cTt	p.P405L		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	405					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				AGGGACTGAAGGGATTGGAGA	0.627000			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid								4	28					0	0	1	0	0
CPEB4	80315	broad.mit.edu	37	5	173317390	173317390	+	Silent	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:173317390T>C	ENST00000265085.5	+	1	2108	c.654T>C	c.(652-654)ttT>ttC	p.F218F	CPEB4_ENST00000520867.1_Silent_p.F218F|CPEB4_ENST00000519835.1_Silent_p.F218F|CPEB4_ENST00000334035.5_Silent_p.F218F	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	218							nucleotide binding|RNA binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GCCCTGGCTTTGGAGGCAGCT	0.532000													5	66					0	0	1	0	0
FGD2	221472	broad.mit.edu	37	6	36981415	36981415	+	Silent	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:36981415C>A	ENST00000274963.8	+	5	729	c.558C>A	c.(556-558)atC>atA	p.I186I		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	186	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						GTGACGTGATCCAGAAGCTGG	0.587000													4	27					1	1	1	1	0
F13B	2165	broad.mit.edu	37	1	197008535	197008535	+	Silent	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:197008535C>A	ENST00000367412.1	-	12	2002	c.1959G>T	c.(1957-1959)ctG>ctT	p.L653L		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	653					blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						CTTGATAAGACAGAGTGCTTG	0.313000													11	86					3.86212e-05	5.09224e-05	1	1	0
APOB	338	broad.mit.edu	37	2	21231683	21231683	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:21231683C>A	ENST00000233242.1	-	26	8184	c.8057G>T	c.(8056-8058)tGg>tTg	p.W2686L		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2686					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	p.W2686*(1)		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)	TGGAACGGGCCACTGCAGCTC	0.443000													11	147					1.58986e-06	2.32287e-06	1	1	0
PTPRD	5789	broad.mit.edu	37	9	8633371	8633371	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:8633371C>A	ENST00000381196.4	-	11	841	c.298G>T	c.(298-300)Gcc>Tcc	p.A100S	PTPRD_ENST00000540109.1_Missense_Mutation_p.A100S|PTPRD_ENST00000360074.4_Missense_Mutation_p.A100S|PTPRD_ENST00000397617.3_Missense_Mutation_p.A100S|PTPRD_ENST00000358503.5_Missense_Mutation_p.A100S|PTPRD_ENST00000355233.5_Missense_Mutation_p.A100S|PTPRD_ENST00000397606.3_Missense_Mutation_p.A100S|PTPRD_ENST00000356435.5_Missense_Mutation_p.A100S|PTPRD_ENST00000463477.1_Missense_Mutation_p.A100S|PTPRD_ENST00000537002.1_Missense_Mutation_p.A100S|PTPRD_ENST00000486161.1_Missense_Mutation_p.A100S|PTPRD_ENST00000397611.3_Missense_Mutation_p.A100S	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	100	Ig-like C2-type 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TTATTTGAGGCCACACATTCA	0.433000										TSP Lung(15;0.13)			6	65					0.00116845	0.00137844	1	1	0
TRA2A	29896	broad.mit.edu	37	7	23556039	23556039	+	Silent	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:23556039C>G	ENST00000297071.4	-	3	495	c.279G>C	c.(277-279)cgG>cgC	p.R93R	TRA2A_ENST00000538367.1_5'UTR|TRA2A_ENST00000474586.1_5'UTR|TRA2A_ENST00000392502.4_5'UTR	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	93	Arg/Ser-rich (RS1 domain).				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						GGCTCCTTCGCCGCCGGTATT	0.448000													4	37					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38980088	38980088	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:38980088G>A	ENST00000359357.3	+	88	13072	c.12818G>A	c.(12817-12819)cGc>cAc	p.R4273H	DNAH8_ENST00000441566.1_Missense_Mutation_p.R4237H					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TCAATACTCCGCAGTAGCCTG	0.363000													5	55					0	0	1	0	0
SH3BP2	6452	broad.mit.edu	37	4	2822453	2822453	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:2822453G>T	ENST00000442312.2	+	2	372	c.193G>T	c.(193-195)Ggc>Tgc	p.G65C	SH3BP2_ENST00000452765.2_Missense_Mutation_p.G37C|SH3BP2_ENST00000356331.5_Missense_Mutation_p.G37C|SH3BP2_ENST00000435136.2_Missense_Mutation_p.G37C|SH3BP2_ENST00000389838.2_Missense_Mutation_p.G37C|SH3BP2_ENST00000511747.1_Missense_Mutation_p.G37C|SH3BP2_ENST00000503393.2_Missense_Mutation_p.G94C	NM_001145855.1	NP_001139327.1	P78314	3BP2_HUMAN	SH3-domain binding protein 2	37	PH.				signal transduction		SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		GCACAAGAAGGGCGGTACCCA	0.592000									Cherubism				8	25					1.06961e-07	1.64929e-07	1	1	0
PKHD1	5314	broad.mit.edu	37	6	51900390	51900390	+	Splice_Site	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:51900390C>A	ENST00000371117.3	-	28	3502	c.3228_splice	c.e28+1	p.R1076_splice	PKHD1_ENST00000340994.4_Splice_Site_p.R1076_splice	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1076	IPT/TIG 5.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TCCACTTACCCTGGGTGGAAC	0.393000													4	63					0.150653	0.155562	1	1	0
RNASEH1	246243	broad.mit.edu	37	2	3596679	3596679	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:3596679C>A	ENST00000315212.3	-	5	888	c.533G>T	c.(532-534)gGg>gTg	p.G178V		NM_002936.3	NP_002927.2	O60930	RNH1_HUMAN	ribonuclease H1	178	RNase H.				RNA catabolic process	cytoplasm	magnesium ion binding|ribonuclease H activity|RNA binding			endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	13	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22)		TGTCTGCCGCCCAGGAAGTCT	0.318000													7	102					0.00198382	0.00230193	1	1	0
LINC01098	285501	broad.mit.edu	37	4	178897009	178897009	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:178897009C>A	ENST00000507870.1	+	5	674	c.212C>A	c.(211-213)aCg>aAg	p.T71K																	lung(8)|prostate(1)	9						CACTGGGGCACGGGAAAGGGG	0.408000													5	67					0.014758	0.0159185	1	1	0
GJD2	57369	broad.mit.edu	37	15	35045322	35045322	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr15:35045322C>A	ENST00000290374.4	-	2	799	c.323G>T	c.(322-324)cGc>cTc	p.R108L		NM_020660.2	NP_065711.1	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	108					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		TGTAGAGTAGCGGCGTTCTCG	0.572000													10	75					1.76689e-08	2.78999e-08	1	1	0
CDH19	28513	broad.mit.edu	37	18	64172127	64172127	+	Silent	SNP	A	A	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr18:64172127A>G	ENST00000262150.2	-	12	2533	c.2241T>C	c.(2239-2241)taT>taC	p.Y747Y		NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	747					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TAAGGTAATCATAGCTTTCAT	0.418000													6	51					0	0	1	0	0
MIER3	166968	broad.mit.edu	37	5	56219659	56219659	+	Splice_Site	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:56219659C>G	ENST00000381226.3	-	12	1084	c.1067_splice	c.e12-1	p.D357_splice	MIER3_ENST00000381199.3_Splice_Site_p.D352_splice|MIER3_ENST00000381213.3_Splice_Site_p.D351_splice|MIER3_ENST00000409421.1_Splice_Site_p.D289_splice|SETD9_ENST00000541720.1_Intron			Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family member 3	352					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1)	19		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)		TCCATATAGTCCCTGAAAAAC	0.418000													11	70					0	0	1	0	0
CCSER1	401145	broad.mit.edu	37	4	91229651	91229651	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:91229651T>A	ENST00000509176.1	+	2	504	c.216T>A	c.(214-216)caT>caA	p.H72Q	CCSER1_ENST00000432775.2_Missense_Mutation_p.H72Q|CCSER1_ENST00000333691.8_Missense_Mutation_p.H72Q	NM_001145065.1	NP_001138537.1			coiled-coil serine-rich protein 1																		GCTTCCACCATAAGAAGGGGA	0.478000													8	49					0	0	1	0	0
CA2	760	broad.mit.edu	37	8	86386567	86386567	+	Silent	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:86386567C>T	ENST00000285379.5	+	4	596	c.366C>T	c.(364-366)caC>caT	p.H122H		NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN	carbonic anhydrase II	122					one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	ACTTGGTTCACTGGAACACCA	0.403000													13	75					0	0	1	0	0
CYP4F11	57834	broad.mit.edu	37	19	16040321	16040321	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:16040321G>A	ENST00000326742.7	-	2	290	c.289C>T	c.(289-291)Ccc>Tcc	p.P97S	CYP4F11_ENST00000248041.7_Missense_Mutation_p.P97S|CYP4F11_ENST00000402119.3_Missense_Mutation_p.P97S			Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	97					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						ATGAGGAGGGGGAAGGTAGGA	0.542000													9	122					0	0	1	0	0
SYT6	148281	broad.mit.edu	37	1	114682431	114682431	+	Silent	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:114682431G>A	ENST00000393296.1	-	2	395	c.318C>T	c.(316-318)ctC>ctT	p.L106L	SYT6_ENST00000369547.1_Silent_p.L21L			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	106					acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGGGGCTCTGGAGGGCTTCCA	0.597000													10	76					0	0	1	0	0
NDUFV3	4731	broad.mit.edu	37	21	44323586	44323586	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr21:44323586C>G	ENST00000354250.2	+	3	533	c.464C>G	c.(463-465)tCc>tGc	p.S155C	NDUFV3_ENST00000340344.3_Intron|NDUFV3_ENST00000460259.1_3'UTR	NM_021075.3	NP_066553.3	P56181	NDUV3_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa	0					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I|nucleus	NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)	NADH(DB00157)	TCGTCTTCATCCTCTTCCAGC	0.512000													12	78					0	0	1	0	0
GPR37	2861	broad.mit.edu	37	7	124404159	124404159	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:124404159T>C	ENST00000303921.2	-	1	1522	c.872A>G	c.(871-873)tAc>tGc	p.Y291C		NM_005302.2	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	291						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GCTCCGCATGTAGTAGTTGTG	0.562000													11	70					0	0	1	0	0
RPL15	6138	broad.mit.edu	37	3	23960061	23960061	+	Silent	SNP	T	T	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:23960061T>A	ENST00000307839.5	+	3	942	c.303T>A	c.(301-303)gtT>gtA	p.V101V	RPL15_ENST00000413699.1_Silent_p.V101V|RPL15_ENST00000456530.2_Silent_p.V101V|RPL15_ENST00000435882.1_Silent_p.V101V|RPL15_ENST00000415719.1_Silent_p.V101V|RPL15_ENST00000354811.5_Silent_p.V101V|NKIRAS1_ENST00000421515.2_Intron	NM_001253379.1|NM_001253380.1|NM_002948.3	NP_001240308.1|NP_001240309.1|NP_002939.2	P61313	RL15_HUMAN	ribosomal protein L15	101				V -> L (in Ref. 5; AAG44837).	endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7						TTCAGTCCGTTGCAGAGGTAA	0.473000													8	44					0	0	1	0	0
SF3B2	10992	broad.mit.edu	37	11	65827009	65827009	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:65827009G>T	ENST00000528302.1	+	11	1347	c.1293G>T	c.(1291-1293)aaG>aaT	p.K431N	SF3B2_ENST00000322535.6_Missense_Mutation_p.K448N			Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	448					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						AAGCCCCCAAGCTGTCCAAGA	0.537000													5	61					0.184627	0.188945	1	1	0
GRIK4	2900	broad.mit.edu	37	11	120744884	120744884	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:120744884A>T	ENST00000527524.2	+	10	1303	c.1016A>T	c.(1015-1017)cAg>cTg	p.Q339L	GRIK4_ENST00000438375.2_Missense_Mutation_p.Q339L|RP11-640N11.2_ENST00000505153.2_RNA			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	339					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	GGCTCGGCCCAGATCTGGCAG	0.632000													4	16					0	0	1	0	0
TXNRD1	7296	broad.mit.edu	37	12	104712825	104712825	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:104712825A>T	ENST00000526691.1	+	6	1027	c.571A>T	c.(571-573)Agg>Tgg	p.R191W	TXNRD1_ENST00000526950.1_Missense_Mutation_p.R208W|TXNRD1_ENST00000378070.4_Missense_Mutation_p.R238W|TXNRD1_ENST00000397736.2_Missense_Mutation_p.R183W|TXNRD1_ENST00000388854.3_Missense_Mutation_p.R191W|TXNRD1_ENST00000540716.1_Missense_Mutation_p.R101W|TXNRD1_ENST00000354940.6_Missense_Mutation_p.R139W|TXNRD1_ENST00000503506.2_Missense_Mutation_p.R139W|TXNRD1_ENST00000542918.1_Missense_Mutation_p.R189W|TXNRD1_ENST00000529546.1_Missense_Mutation_p.R101W|TXNRD1_ENST00000429002.2_Missense_Mutation_p.R289W|TXNRD1_ENST00000526390.1_Missense_Mutation_p.R183W|TXNRD1_ENST00000525566.1_Missense_Mutation_p.R289W|TXNRD1_ENST00000524698.1_Missense_Mutation_p.R139W|TXNRD1_ENST00000427956.1_Missense_Mutation_p.R254W	NM_001261445.1|NM_003330.3	NP_001248374.1|NP_003321.3	Q16881	TRXR1_HUMAN	thioredoxin reductase 1	289					cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						TGGTCCTCACAGGATTAAGGT	0.348000													5	39					0	0	1	0	0
OR52B6	340980	broad.mit.edu	37	11	5602457	5602457	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:5602457C>G	ENST00000345043.2	+	1	351	c.351C>G	c.(349-351)tgC>tgG	p.C117W	HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTGATGGCTGCCTCACTCAGA	0.532000													12	69					0	0	1	0	0
OR8J3	81168	broad.mit.edu	37	11	55904673	55904673	+	Silent	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:55904673G>T	ENST00000301529.1	-	1	521	c.522C>A	c.(520-522)atC>atA	p.I174I		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					AAAAATGATTGATTATATTAG	0.373000													4	57					0.00909568	0.00998677	1	1	0
KIAA1715	80856	broad.mit.edu	37	2	176812327	176812327	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:176812327C>A	ENST00000272748.4	-	9	834	c.587G>T	c.(586-588)gGa>gTa	p.G196V	KIAA1715_ENST00000535310.1_Missense_Mutation_p.G121V|KIAA1715_ENST00000544803.1_Missense_Mutation_p.G196V	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715	196	Pro-rich.					integral to membrane	protein binding			endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			CTTTGGTGGTCCAGGAGATAC	0.522000													5	63					0.000602214	0.000725341	1	1	0
PDE1A	5136	broad.mit.edu	37	2	183104854	183104854	+	Silent	SNP	A	A	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:183104854A>T	ENST00000435564.1	-	3	581	c.381T>A	c.(379-381)gcT>gcA	p.A127A	PDE1A_ENST00000410103.1_Silent_p.A127A|PDE1A_ENST00000409365.1_Silent_p.A111A|PDE1A_ENST00000358139.2_Silent_p.A127A|PDE1A_ENST00000351439.5_Silent_p.A111A|PDE1A_ENST00000331935.6_Silent_p.A127A|PDE1A_ENST00000482538.1_5'UTR|PDE1A_ENST00000346717.4_Silent_p.A93A|PDE1A_ENST00000536095.1_Silent_p.A23A|PDE1A_ENST00000456212.1_Silent_p.A127A	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	127					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			CAAAAATTCCAGCTTGAACAG	0.398000													8	44					0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25341455	25341455	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr13:25341455G>T	ENST00000255324.5	+	2	228	c.176G>T	c.(175-177)tGc>tTc	p.C59F	RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000255325.5_Missense_Mutation_p.C59F|RNF17_ENST00000381921.1_Missense_Mutation_p.C59F	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	59					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TGTGAACTATGCTTGTTAATG	0.318000													8	43					0.000274275	0.00034016	1	1	0
DCAF12L2	340578	broad.mit.edu	37	X	125299102	125299102	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:125299102G>T	ENST00000538699.1	-	2	886	c.806C>A	c.(805-807)gCc>gAc	p.A269D	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.A269D	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	269										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GCCGCTGAAGGCCAGGGCCCG	0.637000													4	27					0.00909568	0.00998677	1	1	0
GBP6	163351	broad.mit.edu	37	1	89849845	89849845	+	Splice_Site	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:89849845G>T	ENST00000370456.4	+	10	1755	c.1662_splice	c.e10+1	p.K554_splice	GBP6_ENST00000535065.1_Splice_Site_p.K424_splice	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	554							GTP binding|GTPase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		ACACGCAGAAGGTAAGTCTGC	0.522000													4	8					0.150653	0.155562	1	1	0
DIP2A	23181	broad.mit.edu	37	21	47971582	47971582	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr21:47971582G>T	ENST00000318711.7	+	24	3061	c.2878G>T	c.(2878-2880)Gtt>Ttt	p.V960F	DIP2A_ENST00000427143.2_Missense_Mutation_p.V895F|DIP2A_ENST00000400274.1_Missense_Mutation_p.V955F|DIP2A_ENST00000417564.2_Missense_Mutation_p.V959F	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	959					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GGGGAACCTGGTTGCTGGGAA	0.552000													4	13					0.00024832	0.000309642	1	1	0
MTUS2	23281	broad.mit.edu	37	13	29599464	29599464	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr13:29599464C>A	ENST00000431530.3	+	1	717	c.659C>A	c.(658-660)cCt>cAt	p.P220H		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	210						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GGTCAGATACCTGGGGGTGGG	0.602000													4	37					1	1	1	1	0
IMPG1	3617	broad.mit.edu	37	6	76751720	76751720	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:76751720G>A	ENST00000369950.3	-	2	380	c.191C>T	c.(190-192)gCa>gTa	p.A64V	IMPG1_ENST00000369963.3_Intron	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	64					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TCGATGCTTTGCCAAATCGAA	0.363000													7	60					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21974724	21974724	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:21974724C>A	ENST00000304494.5	-	1	373	c.103G>T	c.(103-105)Ggg>Tgg	p.G35W	CDKN2A_ENST00000498124.1_Missense_Mutation_p.G35W|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000446177.1_Missense_Mutation_p.G35W|CDKN2A_ENST00000579122.1_Missense_Mutation_p.G35W|CDKN2A_ENST00000494262.1_Intron|RP11-145E5.5_ENST00000404796.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	35			G -> A (in CMM2; also found in a biliary tract tumor and a patient with uveal melanoma; partial loss of CDK4 binding).|G -> E (in CMM2).|G -> V (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(23)|p.L32_L37del(5)|p.G35R(2)|p.G35fs*13(1)|p.0(1)|p.V28_V51del(1)|p.E33fs*8(1)|p.A36fs*8(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GGCAGCGCCCCCGCCTCCAGC	0.731000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			16	56					1.5739e-10	2.60615e-10	1	1	0
OR8K1	390157	broad.mit.edu	37	11	56113724	56113724	+	Silent	SNP	A	A	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:56113724A>G	ENST00000279783.2	+	1	304	c.210A>G	c.(208-210)agA>agG	p.R70R		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					TTTTCCTTAGACATTTGTCAA	0.408000										HNSCC(65;0.19)			10	96					0	0	1	0	0
GPR124	25960	broad.mit.edu	37	8	37696482	37696482	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:37696482C>A	ENST00000315215.7	+	12	1980	c.1617C>A	c.(1615-1617)agC>agA	p.S539R	GPR124_ENST00000412232.2_Missense_Mutation_p.S756R			Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	756					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			AGGAGCTGAGCGCCTTTCCCA	0.672000													5	27					0.000602214	0.000725341	1	1	0
LAMP5	24141	broad.mit.edu	37	20	9510312	9510312	+	Silent	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr20:9510312C>A	ENST00000246070.2	+	6	1180	c.688C>A	c.(688-690)Cgg>Agg	p.R230R	LAMP5_ENST00000427562.2_Silent_p.R186R	NM_012261.3	NP_036393.1	Q9UJQ1	CT103_HUMAN	lysosomal-associated membrane protein family, member 5	230						integral to membrane											AGTGGATGAGCGGGAGCAACT	0.468000													6	33					0.0215528	0.0230314	1	1	0
ARFGEF1	10565	broad.mit.edu	37	8	68213491	68213491	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:68213491G>T	ENST00000262215.3	-	3	669	c.280C>A	c.(280-282)Cgc>Agc	p.R94S		NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	94					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CTAACTATGCGAGGACATTTG	0.373000													9	53					3.09899e-07	4.6688e-07	1	1	0
DMXL2	23312	broad.mit.edu	37	15	51837835	51837835	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr15:51837835G>T	ENST00000251076.5	-	8	1162	c.875C>A	c.(874-876)gCc>gAc	p.A292D	DMXL2_ENST00000543779.2_Missense_Mutation_p.A292D|DMXL2_ENST00000449909.3_Missense_Mutation_p.A292D	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	292						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		AAGGCTGCTGGCAATGCTGGA	0.408000													14	78					0.000151284	0.00019283	1	1	0
MARCH11	441061	broad.mit.edu	37	5	16067784	16067784	+	Silent	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:16067784C>A	ENST00000332432.8	-	4	1204	c.1005G>T	c.(1003-1005)cgG>cgT	p.R335R		NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	335						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						AAGACTCTCCCCGGCTGCTTT	0.483000													8	50					0.27861	0.28292	1	1	0
CLASP2	23122	broad.mit.edu	37	3	33576820	33576820	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:33576820T>C	ENST00000399362.4	-	34	4066	c.3713A>G	c.(3712-3714)tAt>tGt	p.Y1238C	CLASP2_ENST00000468888.2_Missense_Mutation_p.Y1239C|CLASP2_ENST00000307312.7_Missense_Mutation_p.Y720C|CLASP2_ENST00000461133.3_Missense_Mutation_p.Y998C|CLASP2_ENST00000480013.1_Missense_Mutation_p.Y1018C|CLASP2_ENST00000359576.5_Missense_Mutation_p.Y1230C|CLASP2_ENST00000539981.1_Missense_Mutation_p.Y1008C	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2	1240										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						ATATGGATTATAGTCTCGAGA	0.448000													4	32					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92085509	92085509	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:92085509G>C	ENST00000298047.6	+	1	248	c.231G>C	c.(229-231)tgG>tgC	p.W77C	FAT3_ENST00000409404.2_Missense_Mutation_p.W77C|FAT3_ENST00000541502.1_Missense_Mutation_p.W77C			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	77	Cadherin 1.				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)				ATCTATCCTGGGATATCAAAT	0.413000										TCGA Ovarian(4;0.039)			4	56					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179516625	179516625	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:179516625G>C	ENST00000589042.1	-	205	39589	c.39365C>G	c.(39364-39366)gCg>gGg	p.A13122G	TTN_ENST00000591111.1_Missense_Mutation_p.A11615G|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A10688G|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11475	Ig-like 87.						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)			TGGAGGCGCCGCTGGCTCTGG	0.527000													3	8					0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80801427	80801427	+	Silent	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:80801427G>T	ENST00000466387.1	+	17	2605	c.1881G>T	c.(1879-1881)gtG>gtT	p.V627V	CTNNA2_ENST00000402739.4_Silent_p.V627V|CTNNA2_ENST00000541047.1_Silent_p.V627V|CTNNA2_ENST00000540488.1_Silent_p.V627V|CTNNA2_ENST00000496558.1_Silent_p.V627V|CTNNA2_ENST00000343114.3_Silent_p.V306V|CTNNA2_ENST00000361291.4_Silent_p.V661V			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	627					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GAAAGGCTGTGCTGATGATCA	0.463000													5	71					0.000602214	0.000725341	1	1	0
RIMBP3	85376	broad.mit.edu	37	22	20460137	20460137	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr22:20460137G>T	ENST00000426804.1	-	1	1649	c.1165C>A	c.(1165-1167)Cgc>Agc	p.R389S		NM_015672.1	NP_056487.1			RIMS binding protein 3											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			TAACAGCGGCGCGCCAGCACC	0.652000													3	21					0.115264	0.120372	1	1	0
FZD1	8321	broad.mit.edu	37	7	90895604	90895604	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:90895604G>T	ENST00000287934.2	+	1	1822	c.1409G>T	c.(1408-1410)gGc>gTc	p.G470V		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled family receptor 1	470					autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CAGGTGGACGGCGATGTGCTG	0.627000													8	95					1.12685e-05	1.55492e-05	1	1	0
RBFOX1	54715	broad.mit.edu	37	16	7726776	7726776	+	Splice_Site	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr16:7726776G>C	ENST00000340209.4	+	11	1243	c.945_splice	c.e11-1	p.G316_splice	RBFOX1_ENST00000436368.2_Splice_Site_p.G332_splice|RBFOX1_ENST00000422070.4_Splice_Site_p.G354_splice|RBFOX1_ENST00000553186.1_Splice_Site_p.G284_splice|RBFOX1_ENST00000550418.1_Splice_Site_p.G311_splice|RBFOX1_ENST00000535565.2_Splice_Site_p.G268_splice|RBFOX1_ENST00000547338.1_Splice_Site_p.G311_splice|RBFOX1_ENST00000547372.1_Splice_Site_p.G354_splice|RBFOX1_ENST00000552089.1_Splice_Site_p.G328_splice|RBFOX1_ENST00000355637.4_Splice_Site_p.G332_splice|RBFOX1_ENST00000311745.5_Splice_Site_p.G332_splice			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	311					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						TGTGTTTTAGGGTGGTTATGC	0.537000													6	38					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2855597	2855597	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:2855597C>A	ENST00000602557.1	-	55	8871	c.8316G>T	c.(8314-8316)caG>caT	p.Q2772H	CSMD1_ENST00000542608.1_Missense_Mutation_p.Q2713H|CSMD1_ENST00000537824.1_Missense_Mutation_p.Q2771H|CSMD1_ENST00000520002.1_Missense_Mutation_p.Q2772H|CSMD1_ENST00000400186.3_Missense_Mutation_p.Q2714H|CSMD1_ENST00000602723.1_Missense_Mutation_p.Q2714H			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2772	Sushi 19.					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)		GAGACACGCCCTGCAGCAAAT	0.567000													8	28					0.00307968	0.00354221	1	1	0
C8B	732	broad.mit.edu	37	1	57411648	57411648	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:57411648G>T	ENST00000543257.1	-	8	1361	c.795C>A	c.(793-795)ttC>ttA	p.F265L	C8B_ENST00000535057.1_Missense_Mutation_p.F255L|C8B_ENST00000371237.4_Missense_Mutation_p.F317L	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	317	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						CTCTCTGAAGGAACTCGTAAT	0.483000													5	43					0.000602214	0.000725341	1	1	0
KIAA1551	55196	broad.mit.edu	37	12	32134587	32134587	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:32134587A>G	ENST00000312561.4	+	4	1112	c.698A>G	c.(697-699)aAa>aGa	p.K233R	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639.3			KIAA1551																		ACCATTCAAAAACAAAACTTT	0.373000													14	79					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51174491	51174491	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr16:51174491G>C	ENST00000440970.1	-	2	1782	c.1351C>G	c.(1351-1353)Ctg>Gtg	p.L451V	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.L548V	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	548					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AGAGTAGGCAGGACTGGTTTG	0.572000													7	52					0	0	1	0	0
HAVCR1	26762	broad.mit.edu	37	5	156482381	156482381	+	Silent	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:156482381G>C	ENST00000339252.3	-	2	742	c.210C>G	c.(208-210)acC>acG	p.T70T	HAVCR1_ENST00000523175.1_Silent_p.T70T|HAVCR1_ENST00000544197.1_Silent_p.T70T|HAVCR1_ENST00000522693.1_Silent_p.T70T|HAVCR1_ENST00000425854.1_Silent_p.T70T	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	70	Ig-like V-type.				interspecies interaction between organisms	integral to membrane	receptor activity			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCTTCCGATAGGTGACGTGGG	0.463000													6	41					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215840732	215840732	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:215840732C>T	ENST00000272895.7	-	34	5377	c.5158G>A	c.(5158-5160)Gat>Aat	p.D1720N	ABCA12_ENST00000389661.4_Missense_Mutation_p.D1402N	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1720					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CCAAAGCCATCCAGCCTCTCT	0.418000													5	30					0	0	1	0	0
ACOT6	641372	broad.mit.edu	37	14	74086131	74086131	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr14:74086131C>T	ENST00000381139.1	+	2	543	c.212C>T	c.(211-213)aCt>aTt	p.T71I	RP3-414A15.10_ENST00000555011.1_RNA	NM_001037162.1	NP_001032239.1	Q3I5F7	ACOT6_HUMAN	acyl-CoA thioesterase 6	71						cytosol	carboxylesterase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00331)		GTAAAAATCACTAAGTCAGGA	0.413000													9	56					0	0	1	0	0
NCAM2	4685	broad.mit.edu	37	21	22841059	22841059	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr21:22841059C>A	ENST00000400546.1	+	14	2100	c.1851C>A	c.(1849-1851)gaC>gaA	p.D617E	NCAM2_ENST00000284894.7_Missense_Mutation_p.D475E	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	617	Fibronectin type-III 2.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		CCAAACAGGACGATGGAGGGG	0.378000													4	25					0.00909568	0.00998677	1	1	0
C1QL2	165257	broad.mit.edu	37	2	119914425	119914425	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:119914425T>C	ENST00000272520.3	-	2	1436	c.817A>G	c.(817-819)Aat>Gat	p.N273D		NM_182528.3	NP_872334.2	Q7Z5L3	C1QL2_HUMAN	complement component 1, q subcomponent-like 2	273	C1q.					collagen				NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1)	7						TACTTGTTATTATTGCCTCCG	0.617000										HNSCC(49;0.14)			6	70					0	0	1	0	0
TXK	7294	broad.mit.edu	37	4	48097200	48097200	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:48097200A>T	ENST00000264316.4	-	7	626	c.541T>A	c.(541-543)Tta>Ata	p.L181I	TXK_ENST00000510457.1_5'UTR	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	181	SH2.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						TAGGATCCTAAATGTCTTGAA	0.343000													9	24					0	0	1	0	0
SNURF	8926	broad.mit.edu	37	15	25207307	25207307	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr15:25207307G>C	ENST00000338094.6	+	2	122	c.61G>C	c.(61-63)Gtg>Ctg	p.V21L	SNURF_ENST00000577949.1_Missense_Mutation_p.V21L|SNRPN_ENST00000553597.1_3'UTR|SNRPN_ENST00000400097.1_5'UTR|SNRPN_ENST00000390687.4_5'UTR|SNRPN_ENST00000577565.1_5'UTR|SNRPN_ENST00000346403.6_5'UTR|SNRPN_ENST00000554227.2_5'UTR|SNURF_ENST00000338327.4_Missense_Mutation_p.V21L|SNRPN_ENST00000400098.1_5'UTR|SNRPN_ENST00000400100.1_5'UTR	NM_003097.3|NM_005678.3	NP_003088.1|NP_005669.2			SNRPN upstream reading frame											breast(2)|large_intestine(2)|lung(1)	5		all_cancers(20;1.4e-21)|Breast(32;0.000625)		all cancers(64;3.48e-07)|Epithelial(43;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0142)		CGTACCAGAGGTGGAAGTCCA	0.453000													4	30					0	0	1	0	0
OSBPL8	114882	broad.mit.edu	37	12	76844736	76844736	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:76844736G>C	ENST00000261183.3	-	4	591	c.112C>G	c.(112-114)Ctg>Gtg	p.L38V	OSBPL8_ENST00000393250.4_5'UTR|OSBPL8_ENST00000393249.2_5'UTR	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	38					lipid transport		lipid binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						CCTGGTGTCAGAAGCTGAGAT	0.403000													4	32					0	0	1	0	0
PDZRN3	23024	broad.mit.edu	37	3	73453527	73453527	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:73453527G>T	ENST00000263666.4	-	4	1052	c.938C>A	c.(937-939)tCc>tAc	p.S313Y	PDZRN3_ENST00000535920.1_Missense_Mutation_p.S35Y|PDZRN3_ENST00000479530.1_Missense_Mutation_p.S30Y|PDZRN3_ENST00000462146.2_5'UTR|PDZRN3_ENST00000466780.1_5'UTR	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	313	PDZ 1.						ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		AGTTGCTCTGGATAAGTCTCT	0.458000													10	45					0.000442599	0.000543056	1	1	0
SNX8	29886	broad.mit.edu	37	7	2302892	2302892	+	Silent	SNP	C	C	A	rs145067811	byFrequency	TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:2302892C>A	ENST00000222990.3	-	7	930	c.888G>T	c.(886-888)gcG>gcT	p.A296A		NM_013321.2	NP_037453.1	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	296					cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		CGGCGAGCAGCGCGAATTCCA	0.622000													4	25					1	1	1	1	0
ZSCAN4	201516	broad.mit.edu	37	19	58190154	58190154	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:58190154C>A	ENST00000318203.5	+	5	1880	c.1183C>A	c.(1183-1185)Cct>Act	p.P395T		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	395					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGGAGAAAAGCCTTATACATG	0.468000													11	81					3.86212e-05	5.09224e-05	1	1	0
OR9G4	283189	broad.mit.edu	37	11	56511255	56511255	+	Silent	SNP	G	G	A	rs61735257	byFrequency	TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:56511255G>A	ENST00000302957.3	-	1	32	c.33C>T	c.(31-33)ttC>ttT	p.F11F		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CCACGGAGGTGAAAGCCTGAC	0.413000													9	63					0	0	1	0	0
FOXI3	344167	broad.mit.edu	37	2	88751557	88751557	+	RNA	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:88751557G>T	ENST00000398142.3	-	0	574							A8MTJ6	FOXI3_HUMAN	forkhead box I3						epidermal cell fate specification|otic placode formation|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|endometrium(1)	2						GGCTGAGAGTGAGTTTGCGCT	0.627000													3	12					0.004672	0.00531382	1	1	0
DNAH9	1770	broad.mit.edu	37	17	11687677	11687677	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:11687677A>G	ENST00000262442.3	+	41	7950	c.7882A>G	c.(7882-7884)Agc>Ggc	p.S2628G	DNAH9_ENST00000454412.2_Missense_Mutation_p.S2628G	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2628	AAA 3 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTCTATCTACAGCATCATCCT	0.557000													22	128					0	0	1	0	0
SOX13	9580	broad.mit.edu	37	1	204092250	204092250	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:204092250G>T	ENST00000367204.1	+	11	1254	c.1145G>T	c.(1144-1146)aGc>aTc	p.S382I		NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	382					anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			GACCTCATCAGCCTGGACTCA	0.617000													8	57					0.000157383	0.000199497	1	1	0
LCE2C	353140	broad.mit.edu	37	1	152648545	152648545	+	Silent	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:152648545C>A	ENST00000368783.1	+	2	109	c.54C>A	c.(52-54)ccC>ccA	p.P18P	LCE2B_ENST00000417924.2_Intron	NM_178429.2	NP_848516.1	Q5TA81	LCE2C_HUMAN	late cornified envelope 2C	18	Cys-rich.				keratinization					endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			agtgtcctcccaagtgtaccc	0.522000													7	68					0.00198382	0.00230193	1	1	0
B3GNT7	93010	broad.mit.edu	37	2	232262911	232262911	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:232262911C>T	ENST00000287590.5	+	2	742	c.481C>T	c.(481-483)Cgg>Tgg	p.R161W	B3GNT7_ENST00000479618.1_3'UTR	NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7	161					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		GGGCCGCGAGCGGCAGTCCGC	0.706000													7	22					0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108381606	108381606	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:108381606C>A	ENST00000265843.4	-	6	4738	c.4628G>T	c.(4627-4629)aGa>aTa	p.R1543I	EXPH5_ENST00000443411.1_Missense_Mutation_p.R1355I|EXPH5_ENST00000428840.1_Missense_Mutation_p.R1467I|EXPH5_ENST00000525344.1_Missense_Mutation_p.R1536I	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	1543					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)		CTCCTGACTTCTTTGAGGTAA	0.428000													8	62					5.18039e-06	7.33556e-06	1	1	0
C10orf71	118461	broad.mit.edu	37	10	50532551	50532551	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:50532551C>G	ENST00000374144.3	+	3	2249	c.1961C>G	c.(1960-1962)cCt>cGt	p.P654R	C10orf71_ENST00000323868.4_Missense_Mutation_p.P654R			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	654										endometrium(1)	1						AATAGGGATCCTGAGCCTGGA	0.572000													6	11					0	0	1	0	0
WFIKKN2	124857	broad.mit.edu	37	17	48917855	48917855	+	Nonsense_Mutation	SNP	G	G	A	rs148609730		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:48917855G>A	ENST00000311378.4	+	2	1734	c.1206G>A	c.(1204-1206)tgG>tgA	p.W402*	WFIKKN2_ENST00000426127.1_Nonsense_Mutation_p.W309*|RP11-506D12.5_ENST00000572491.2_RNA	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	402	BPTI/Kunitz inhibitor 2.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			CGCCTCGCTGGGCTTACAACA	0.652000													7	41					0	0	1	0	0
LHX9	56956	broad.mit.edu	37	1	197890699	197890699	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:197890699T>G	ENST00000367390.3	+	4	643	c.616T>G	c.(616-618)Tac>Gac	p.Y206D	LHX9_ENST00000367391.1_Missense_Mutation_p.Y206D|LHX9_ENST00000367387.4_Missense_Mutation_p.Y215D|LHX9_ENST00000337020.2_Missense_Mutation_p.Y215D|LHX9_ENST00000561173.1_Missense_Mutation_p.Y221D	NM_001014434.1	NP_001014434.1	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	215					motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						GGCCCTGCCTTACTTCAACGG	0.642000													4	23					0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160097625	160097625	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:160097625C>A	ENST00000327245.5	-	7	1366	c.520G>T	c.(520-522)Gac>Tac	p.D174Y		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	174					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGATGAAGTCTCCCACGCGC	0.478000													7	70					0.00198382	0.00230193	1	1	0
DEFB110	245913	broad.mit.edu	37	6	49986794	49986794	+	Missense_Mutation	SNP	C	C	G	rs145542651		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:49986794C>G	ENST00000371148.2	-	2	145	c.100G>C	c.(100-102)Gag>Cag	p.E34Q	DEFB110_ENST00000393660.2_Intron	NM_001037497.1	NP_001032586.1	Q30KQ9	DB110_HUMAN	defensin, beta 110 locus	34					defense response to bacterium	extracellular region				endometrium(1)|lung(1)|ovary(1)	3	Lung NSC(77;0.042)					ATTCTGCACTCTCTCCTCAAG	0.388000													4	57					0	0	1	0	0
SLC16A7	9194	broad.mit.edu	37	12	60169119	60169119	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:60169119G>A	ENST00000261187.4	+	4	1207	c.1043G>A	c.(1042-1044)gGc>gAc	p.G348D	SLC16A7_ENST00000543448.1_Missense_Mutation_p.G249D|SLC16A7_ENST00000547379.1_Missense_Mutation_p.G348D|SLC16A7_ENST00000552024.1_Missense_Mutation_p.G348D|SLC16A7_ENST00000552432.1_Missense_Mutation_p.G348D	NM_001270622.1|NM_001270623.1|NM_004731.3	NP_001257551.1|NP_001257552.1|NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	348						integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	GTATTTTTTGGCCTTGGATTT	0.458000													8	90					0	0	1	0	0
DOCK1	1793	broad.mit.edu	37	10	128829952	128829952	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:128829952G>T	ENST00000280333.6	+	17	1709	c.1600G>T	c.(1600-1602)Gtc>Ttc	p.V534F		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	534	DHR-1.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		ACTAGCATTTGTCAAGCTGAT	0.353000													16	47					1.45105e-14	2.45132e-14	1	1	0
OR2AE1	81392	broad.mit.edu	37	7	99473722	99473722	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:99473722C>A	ENST00000316368.2	-	1	958	c.935G>T	c.(934-936)tGc>tTc	p.C312F		NM_001005276.1	NP_001005276.1	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE, member 1	312					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					TCGTTGAATGCACTGGGTGAT	0.403000													10	84					0.000442599	0.000543056	1	1	0
PRKDC	5591	broad.mit.edu	37	8	48706909	48706909	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:48706909C>T	ENST00000314191.2	-	75	10665	c.10609G>A	c.(10609-10611)Gaa>Aaa	p.E3537K	PRKDC_ENST00000338368.3_Missense_Mutation_p.E3537K|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3538	FAT.				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)				GAATAGCTTTCGCTGCTTATG	0.403000								Non-homologous end-joining					7	19					0	0	1	0	0
CCSER1	401145	broad.mit.edu	37	4	91230449	91230449	+	Silent	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:91230449G>C	ENST00000509176.1	+	2	1302	c.1014G>C	c.(1012-1014)ccG>ccC	p.P338P	CCSER1_ENST00000432775.2_Silent_p.P338P|CCSER1_ENST00000333691.8_Silent_p.P338P	NM_001145065.1	NP_001138537.1			coiled-coil serine-rich protein 1																		ATTCATTACCGGAAACCTCTG	0.428000													11	59					0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42482334	42482334	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:42482334G>A	ENST00000545399.1	-	13	1967	c.1814C>T	c.(1813-1815)gCg>gTg	p.A605V	ATP1A3_ENST00000602133.1_Missense_Mutation_p.A562V|ATP1A3_ENST00000543770.1_Missense_Mutation_p.A603V|ATP1A3_ENST00000302102.5_Missense_Mutation_p.A592V	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	592					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						CTTGCCCACCGCGTCAGGGAC	0.617000													7	40					0	0	1	0	0
DGKK	139189	broad.mit.edu	37	X	50213565	50213565	+	RNA	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:50213565G>A	ENST00000376025.2	-	0	172							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					cggcggcggagccggtggtgg	0.721000													7	12					0	0	1	0	0
ZNF470	388566	broad.mit.edu	37	19	57089767	57089767	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:57089767C>T	ENST00000330619.8	+	6	2656	c.1970C>T	c.(1969-1971)gCc>gTc	p.A657V	ZNF470_ENST00000391709.3_Missense_Mutation_p.A657V|ZNF470_ENST00000601902.1_Intron	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	657					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		TGTAGCAAAGCCTTCAGCCAG	0.423000													8	53					0	0	1	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142481279	142481279	+	RNA	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:142481279T>C	ENST00000603901.1	+	0	353					NR_001296.3																						ACACCTGCCGTCATCAATGCC	0.547000													4	22					0	0	1	0	0
SPATA31C1	441452	broad.mit.edu	37	9	90535510	90535510	+	RNA	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:90535510C>A	ENST00000602681.1	+	0	1414																											GGCCTGCTCTCCACCTCCTCC	0.607000													64	150					5.5144e-22	9.41959e-22	1	1	0
GPR98	84059	broad.mit.edu	37	5	89938734	89938734	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:89938734T>C	ENST00000405460.2	+	13	2525	c.2429T>C	c.(2428-2430)cTa>cCa	p.L810P		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	810					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AAGCAGTTTCTACACTACCGA	0.418000													16	65					0	0	1	0	0
FAM107B	83641	broad.mit.edu	37	10	14816434	14816434	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:14816434G>T	ENST00000181796.2	-	1	462	c.229C>A	c.(229-231)Caa>Aaa	p.Q77K		NM_031453.2	NP_113641.2	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	0										breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CTCGAATCTTGCCTTTTCTCT	0.602000													18	91					9.16793e-09	1.4602e-08	1	1	0
EPHA3	2042	broad.mit.edu	37	3	89259051	89259051	+	Silent	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:89259051C>T	ENST00000336596.2	+	3	420	c.195C>T	c.(193-195)atC>atT	p.I65I	EPHA3_ENST00000494014.1_Silent_p.I65I|EPHA3_ENST00000452448.2_Silent_p.I65I	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	65						extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		ACACACCCATCAGGACTTACC	0.438000										TSP Lung(6;0.00050)			3	25					0	0	1	0	0
EPB41L5	57669	broad.mit.edu	37	2	120834636	120834636	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:120834636C>G	ENST00000263713.5	+	8	809	c.595C>G	c.(595-597)Ctg>Gtg	p.L199V	EPB41L5_ENST00000443124.1_Missense_Mutation_p.L199V|EPB41L5_ENST00000443902.2_Missense_Mutation_p.L199V|EPB41L5_ENST00000452780.1_Missense_Mutation_p.L199V|EPB41L5_ENST00000331393.4_Missense_Mutation_p.L199V	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	199	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						AGAGATGGAACTGGCTATTTT	0.373000													6	74					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179547496	179547496	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:179547496C>G	ENST00000589042.1	-	135	33246	c.33022G>C	c.(33022-33024)Gaa>Caa	p.E11008Q	TTN_ENST00000591111.1_Missense_Mutation_p.E10691Q|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E9764Q|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10691	Glu-rich.|Pro-rich.						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)			TGGTCATATTCTTCTGTTGGT	0.368000													16	67					0	0	1	0	0
PHRF1	57661	broad.mit.edu	37	11	609228	609228	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:609228G>A	ENST00000264555.5	+	14	3900	c.3772G>A	c.(3772-3774)Gac>Aac	p.D1258N	PHRF1_ENST00000533464.1_Missense_Mutation_p.D1254N|PHRF1_ENST00000416188.2_Missense_Mutation_p.D1257N|PHRF1_ENST00000413872.2_Missense_Mutation_p.D1256N	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1258							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						GGACGACCTGGACCTGGATTA	0.622000													3	28					0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35549119	35549119	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:35549119C>T	ENST00000353139.5	-	37	4809	c.4328G>A	c.(4327-4329)gGg>gAg	p.G1443E	ACACA_ENST00000394406.2_Missense_Mutation_p.G1406E|ACACA_ENST00000360679.3_Missense_Mutation_p.G1348E|ACACA_ENST00000335166.5_Missense_Mutation_p.G1328E	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1406					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CTTGGCTGCCCCGAGATACAG	0.507000													7	29					0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8661981	8661981	+	Silent	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:8661981G>A	ENST00000270328.4	-	7	1196	c.930C>T	c.(928-930)tcC>tcT	p.S310S	ADAMTS10_ENST00000597188.1_Silent_p.S310S			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	310	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						AGCTGTCCAGGGACTTCCCGG	0.587000													4	56					0	0	1	0	0
POLR2A	5430	broad.mit.edu	37	17	7414793	7414793	+	Silent	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:7414793G>A	ENST00000322644.6	+	24	4386	c.3987G>A	c.(3985-3987)aaG>aaA	p.K1329K		NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1329					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	p.I1322_W1334del(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GGGAATTCAAGGCCCTGCAGG	0.562000													9	30					0	0	1	0	0
GRIP1	23426	broad.mit.edu	37	12	66765603	66765603	+	Silent	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:66765603C>G	ENST00000359742.4	-	23	3123	c.2883G>C	c.(2881-2883)cgG>cgC	p.R961R	GRIP1_ENST00000286445.7_Silent_p.R946R|GRIP1_ENST00000398016.3_Silent_p.R909R			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	961					androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TGTAGTGCGGCCGCGAGCTGC	0.537000													9	80					0	0	1	0	0
C17orf70	80233	broad.mit.edu	37	17	79517459	79517459	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:79517459C>A	ENST00000537152.1	-	3	1133	c.608G>T	c.(607-609)gGg>gTg	p.G203V	C17orf70_ENST00000327787.8_Missense_Mutation_p.G354V	NM_025161.5	NP_079437.5	Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	354					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			GCGGCCACCCCCGCCACAGGC	0.682000													8	24					0.00307968	0.00354221	1	1	0
TTN	7273	broad.mit.edu	37	2	179464352	179464352	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:179464352G>C	ENST00000589042.1	-	289	56500	c.56276C>G	c.(56275-56277)aCt>aGt	p.T18759S	TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T17118S|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T9694S|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T9886S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T16191S|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T9819S|TTN-AS1_ENST00000589234.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17118	Fibronectin type-III 36.						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)			ATATAAGCCAGTGTCACTCCT	0.418000													12	134					0	0	1	0	0
DMRTC2	63946	broad.mit.edu	37	19	42351701	42351701	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:42351701C>A	ENST00000269945.3	+	2	256	c.205C>A	c.(205-207)Cac>Aac	p.H69N	DMRTC2_ENST00000602098.1_3'UTR|DMRTC2_ENST00000596827.1_Missense_Mutation_p.H69N	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	69					cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						TTGCGAGTGTCACAAATGTGT	0.592000													6	59					0.0215528	0.0230314	1	1	0
PLSCR2	57047	broad.mit.edu	37	3	146166994	146166994	+	Splice_Site	SNP	A	A	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:146166994A>G	ENST00000497985.1	-	8	1302	c.864_splice	c.e8+1	p.I288_splice	PLSCR2_ENST00000336685.2_Splice_Site_p.I215_splice	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	215					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity	p.I288T(1)|p.I215T(1)		endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						TAGACTTACAATGAGGAAACA	0.353000													16	109					0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	96018842	96018842	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:96018842A>T	ENST00000260766.3	+	13	4383	c.3749A>T	c.(3748-3750)gAg>gTg	p.E1250V	PLCE1_ENST00000371375.1_Missense_Mutation_p.E942V|PLCE1_ENST00000371385.3_Missense_Mutation_p.E942V|PLCE1_ENST00000371380.2_Missense_Mutation_p.E1250V	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1250					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TCTGGCTCCGAGTCAGCCCCA	0.488000													11	59					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16893281	16893281	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:16893281G>C	ENST00000377833.4	-	60	9681	c.9616C>G	c.(9616-9618)Ctg>Gtg	p.L3206V		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3206	CUB 24.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GCTGCCTCCAGAGCAAATGTA	0.343000													5	43					0	0	1	0	0
OR4C6	219432	broad.mit.edu	37	11	55432896	55432896	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:55432896C>T	ENST00000314259.3	+	1	283	c.254C>T	c.(253-255)tCc>tTc	p.S85F		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GACACCCTCTCCAAGAGCACT	0.483000													13	77					0	0	1	0	0
RB1CC1	9821	broad.mit.edu	37	8	53569364	53569364	+	Missense_Mutation	SNP	C	C	A	rs139382244		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:53569364C>A	ENST00000025008.5	-	15	3548	c.3025G>T	c.(3025-3027)Gac>Tac	p.D1009Y	RB1CC1_ENST00000435644.2_Missense_Mutation_p.D1009Y|RB1CC1_ENST00000539297.1_Missense_Mutation_p.D1009Y|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	1009					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				ACTCTGTGGTCTGTCATAACC	0.358000													11	88					3.86212e-05	5.09224e-05	1	1	0
OR5C1	392391	broad.mit.edu	37	9	125551232	125551232	+	Silent	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:125551232C>A	ENST00000373680.2	+	1	83	c.21C>A	c.(19-21)acC>acA	p.T7T		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						AGAACCTCACCCGGGCCGCGG	0.587000													5	51					0.000602214	0.000725341	1	1	0
ZFP42	132625	broad.mit.edu	37	4	188924561	188924561	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:188924561G>T	ENST00000326866.4	+	4	1008	c.600G>T	c.(598-600)agG>agT	p.R200S	ZFP42_ENST00000509524.1_Missense_Mutation_p.R200S	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	200					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)		GGAAGTTGAGGAATAGAGCTG	0.483000													10	71					7.48243e-07	1.10552e-06	1	1	0
CDH12	1010	broad.mit.edu	37	5	21975242	21975242	+	Missense_Mutation	SNP	C	C	A	rs145189313	byFrequency	TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:21975242C>A	ENST00000382254.1	-	6	1570	c.484G>T	c.(484-486)Gat>Tat	p.D162Y	CDH12_ENST00000504376.2_Missense_Mutation_p.D162Y|CDH12_ENST00000522262.1_Missense_Mutation_p.D162Y	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	162	Cadherin 2.				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						TAAGGTCCATCCAAAAACTTT	0.413000										HNSCC(59;0.17)			10	120					2.74318e-10	4.526e-10	1	1	0
RALGAPA1	253959	broad.mit.edu	37	14	36008849	36008849	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr14:36008849C>T	ENST00000307138.6	-	40	6619	c.6151G>A	c.(6151-6153)Gta>Ata	p.V2051I	RALGAPA1_ENST00000389698.3_3'UTR|RALGAPA1_ENST00000382366.3_3'UTR|RALGAPA1_ENST00000258840.6_3'UTR	NM_194301.2	NP_919277.2	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	0					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCCCCATCTACCTGCGTTGCT	0.522000													6	57					0	0	1	0	0
RASGEF1B	153020	broad.mit.edu	37	4	82369429	82369429	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:82369429T>C	ENST00000509081.1	-	5	666	c.445A>G	c.(445-447)Aga>Gga	p.R149G	RASGEF1B_ENST00000335927.7_Missense_Mutation_p.R108G|RASGEF1B_ENST00000264400.2_Missense_Mutation_p.R150G			Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	150	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						ACATTCTTTCTGTATGTCTGC	0.468000													13	63					0	0	1	0	0
PTPRM	5797	broad.mit.edu	37	18	8394531	8394531	+	Silent	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr18:8394531C>A	ENST00000332175.8	+	30	5264	c.4227C>A	c.(4225-4227)ctC>ctA	p.L1409L	PTPRM_ENST00000580170.1_Silent_p.L1422L|PTPRM_ENST00000400053.4_Silent_p.L1347L|PTPRM_ENST00000400060.4_Silent_p.L1423L|PTPRM_ENST00000444013.1_Silent_p.L1196L	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1409	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GTGAGATGCTCCGGCACCAGA	0.557000													6	28					2.0095e-06	2.90366e-06	1	1	0
BPIFA1	51297	broad.mit.edu	37	20	31828129	31828129	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr20:31828129C>G	ENST00000354297.4	+	5	590	c.519C>G	c.(517-519)atC>atG	p.I173M	BPIFA1_ENST00000375422.2_Missense_Mutation_p.I173M|BPIFA1_ENST00000375413.4_Missense_Mutation_p.I173M	NM_130852.2	NP_570913.1	Q9NP55	PLUNC_HUMAN	BPI fold containing family A, member 1	173					innate immune response	extracellular region	lipid binding										AGGAGAGGATCCACCTGGTCC	0.547000													19	148					0	0	1	0	0
OR10K2	391107	broad.mit.edu	37	1	158390342	158390342	+	Silent	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:158390342G>T	ENST00000314902.2	-	1	314	c.315C>A	c.(313-315)ctC>ctA	p.L105L		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					AGCCAAGGAAGAGGAAGGAAA	0.493000													8	93					0.000157383	0.000199497	1	1	0
HSD3B2	3284	broad.mit.edu	37	1	119965036	119965036	+	Silent	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:119965036C>T	ENST00000543831.1	+	4	1161	c.912C>T	c.(910-912)ctC>ctT	p.L304L	HSD3B2_ENST00000369416.3_Silent_p.L304L	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	304					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	GCTTCCTACTCAGCCCAATTT	0.488000													5	43					0	0	1	0	0
UACA	55075	broad.mit.edu	37	15	70960221	70960221	+	Silent	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr15:70960221C>A	ENST00000322954.6	-	16	2987	c.2802G>T	c.(2800-2802)tcG>tcT	p.S934S	UACA_ENST00000539319.1_Silent_p.S825S|UACA_ENST00000560441.1_Silent_p.S919S|UACA_ENST00000379983.2_Silent_p.S921S	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	934						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						TCTGACTTAGCGAGCTCATCT	0.413000													7	55					0.00307968	0.00354221	1	1	0
PDAP1	11333	broad.mit.edu	37	7	99002543	99002543	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:99002543T>A	ENST00000350498.3	-	2	327	c.47A>T	c.(46-48)cAg>cTg	p.Q16L		NM_014891.6	NP_055706.1	Q13442	HAP28_HUMAN	PDGFA associated protein 1	16					cell proliferation|signal transduction					breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)		Becaplermin(DB00102)	GCTTGTATACTGCCTCGCCCG	0.637000													5	27					0	0	1	0	0
MAEL	84944	broad.mit.edu	37	1	166987073	166987073	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:166987073C>G	ENST00000367872.4	+	10	1162	c.918C>G	c.(916-918)atC>atG	p.I306M	MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.I275M	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	306					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						GGTACTGCATCAGTAATTCTC	0.343000													12	36					0	0	1	0	0
DPP10	57628	broad.mit.edu	37	2	116593793	116593793	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:116593793G>T	ENST00000410059.1	+	22	2491	c.2011G>T	c.(2011-2013)Gga>Tga	p.G671*	DPP10_ENST00000393147.2_Nonsense_Mutation_p.G675*|DPP10_ENST00000409163.1_Nonsense_Mutation_p.G621*|DPP10_ENST00000310323.8_Nonsense_Mutation_p.G664*	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	671					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TTTTAAATGTGGATCCGTGGT	0.338000													4	18					0.014758	0.0159185	1	1	0
PSIP1	11168	broad.mit.edu	37	9	15468795	15468795	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:15468795A>T	ENST00000380733.4	-	14	1596	c.1253T>A	c.(1252-1254)aTg>aAg	p.M418K	PSIP1_ENST00000380738.4_Missense_Mutation_p.M418K			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	418					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		GTTATACAACATTGTAGACTT	0.343000													8	51					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49438749	49438749	+	Splice_Site	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:49438749C>G	ENST00000301067.7	-	19	4741		c.e19-1			NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		TACTGGGGCTCTGCATAAGAG	0.532000													4	44					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79434686	79434686	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:79434686A>G	ENST00000264895.6	+	65	10594	c.10154A>G	c.(10153-10155)tAt>tGt	p.Y3385C		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3380					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GTTACCACCTATGACCTGAGA	0.483000													10	56					0	0	1	0	0
G6PC2	57818	broad.mit.edu	37	2	169764185	169764185	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:169764185T>A	ENST00000375363.3	+	5	756	c.664T>A	c.(664-666)Tac>Aac	p.Y222N	G6PC2_ENST00000461586.1_3'UTR|G6PC2_ENST00000429379.2_3'UTR|G6PC2_ENST00000421979.1_3'UTR|SPC25_ENST00000472216.2_Intron	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN	glucose-6-phosphatase, catalytic, 2	222					gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						AGTTGGCTTTTACCTGCTTCT	0.537000													14	70					0	0	1	0	0
ATXN2	6311	broad.mit.edu	37	12	111948252	111948252	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:111948252G>A	ENST00000377617.3	-	12	2334	c.2173C>T	c.(2173-2175)Cca>Tca	p.P725S	ATXN2_ENST00000550104.1_Missense_Mutation_p.P725S|ATXN2_ENST00000389153.4_Missense_Mutation_p.P460S|ATXN2_ENST00000542287.2_Missense_Mutation_p.P460S|ATXN2_ENST00000535949.1_Missense_Mutation_p.P436S	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	725	Pro-rich.				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						GATGCAGCTGGAATAGGCATG	0.502000													14	108					0	0	1	0	0
C2orf83	56918	broad.mit.edu	37	2	228476311	228476311	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:228476311C>G	ENST00000264387.4	-	3	338	c.252G>C	c.(250-252)caG>caC	p.Q84H	C2orf83_ENST00000409066.1_3'UTR	NM_020161.3	NP_064546.3	Q53S99	CB083_HUMAN	chromosome 2 open reading frame 83	84						membrane	folic acid binding|reduced folate carrier activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(2)	11						GCCCGCATGTCTGTACGGTAA	0.483000													7	40					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166188020	166188020	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:166188020C>T	ENST00000375437.2	+	14	2620	c.2330C>T	c.(2329-2331)gCt>gTt	p.A777V	SCN2A_ENST00000375427.2_Missense_Mutation_p.A777V|SCN2A_ENST00000283256.6_Missense_Mutation_p.A777V|SCN2A_ENST00000357398.3_Missense_Mutation_p.A777V	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	777					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	CTCTTCATGGCTATGGAGCAC	0.453000													4	55					0	0	1	0	0
BNIP3P1	319138	broad.mit.edu	37	14	28733847	28733847	+	RNA	SNP	G	G	A	rs10145670	by1000genomes	TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr14:28733847G>A	ENST00000550043.1	+	0	252																											TGGGAAAGGGGGCAGTGTTCC	0.547000													3	30					0	0	1	0	0
FAM122A	116224	broad.mit.edu	37	9	71395894	71395894	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:71395894G>T	ENST00000394264.3	+	1	931	c.814G>T	c.(814-816)Gcc>Tcc	p.A272S	PIP5K1B_ENST00000541509.1_Intron|PIP5K1B_ENST00000265382.3_Intron	NM_138333.3	NP_612206.3	Q96E09	F122A_HUMAN	family with sequence similarity 122A	272										endometrium(1)|lung(2)	3						TGTGTCACCTGCCCAAGCGGC	0.463000													37	142					1.60099e-16	2.70959e-16	1	1	0
LTBP1	4052	broad.mit.edu	37	2	33498785	33498785	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:33498785G>C	ENST00000404816.2	+	16	3033	c.2680G>C	c.(2680-2682)Gtg>Ctg	p.V894L	LTBP1_ENST00000404525.1_Missense_Mutation_p.V515L|LTBP1_ENST00000402934.1_Missense_Mutation_p.V515L|LTBP1_ENST00000418533.2_Missense_Mutation_p.V568L|LTBP1_ENST00000390003.4_Missense_Mutation_p.V569L|LTBP1_ENST00000407925.1_Missense_Mutation_p.V568L|LTBP1_ENST00000354476.3_Missense_Mutation_p.V895L			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	894	EGF-like 4; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TAACCTACCAGTGAGATATAC	0.358000													4	32					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164735341	164735341	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:164735341G>T	ENST00000264382.3	-	31	3816	c.3754C>A	c.(3754-3756)Ccc>Acc	p.P1252T		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1252	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CATACATAGGGGATGTTAGCA	0.333000										HNSCC(35;0.089)			4	35					0.00909568	0.00998677	1	1	0
ADAD1	132612	broad.mit.edu	37	4	123314743	123314743	+	Splice_Site	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:123314743G>T	ENST00000296513.2	+	6	714		c.e6-1		ADAD1_ENST00000388725.2_Splice_Site|ADAD1_ENST00000388724.2_Splice_Site|ADAD1_ENST00000492454.1_Splice_Site	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)						multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTTGTTTACAGGTCCTCCTCC	0.318000													6	27					0.217242	0.220847	1	1	0
MYCBP2	23077	broad.mit.edu	37	13	77754439	77754439	+	Silent	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr13:77754439G>T	ENST00000407578.2	-	34	5222	c.4956C>A	c.(4954-4956)atC>atA	p.I1652I	MYCBP2_ENST00000357337.6_Silent_p.I1614I|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Silent_p.I1614I	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	1614					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TCATCCCTGAGATATTCTCTT	0.393000													8	63					1.26484e-09	2.0537e-09	1	1	0
ASCC3	10973	broad.mit.edu	37	6	101076996	101076996	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:101076996T>C	ENST00000369162.2	-	27	4614	c.4270A>G	c.(4270-4272)Atc>Gtc	p.I1424V		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	1424	Helicase ATP-binding 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GTAGTGACGATAAGGTCAGCC	0.428000													5	20					0	0	1	0	0
CREBZF	58487	broad.mit.edu	37	11	85375310	85375310	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:85375310G>A	ENST00000527447.1	-	1	836	c.610C>T	c.(610-612)Cag>Tag	p.Q204*	CREBZF_ENST00000531515.1_Intron|CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000398294.2_Nonsense_Mutation_p.Q122*	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor	204					negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				gtcgccgcctggttgttgtcg	0.657000											OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	29					0	0	1	0	0
CYP2B6	1555	broad.mit.edu	37	19	41509945	41509945	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:41509945G>T	ENST00000324071.4	+	2	218	c.211G>T	c.(211-213)Gga>Tga	p.G71*	CYP2B6_ENST00000598834.1_3'UTR|CYP2B6_ENST00000330446.5_Nonsense_Mutation_p.G31*|CYP2B6_ENST00000593831.1_5'UTR	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	71					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	GGTACACCTGGGACCGAGGCC	0.557000													5	40					1.024e-07	1.58962e-07	1	1	0
DCDC2	51473	broad.mit.edu	37	6	24357841	24357841	+	Silent	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:24357841G>C	ENST00000378454.3	-	1	439	c.138C>G	c.(136-138)gtC>gtG	p.V46V	KAAG1_ENST00000274766.1_5'UTR	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	46	Doublecortin 1.				cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				CCTTCAGGAAGACTTCGAAGC	0.627000													11	49					0	0	1	0	0
UNC5C	8633	broad.mit.edu	37	4	96469911	96469911	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:96469911G>T	ENST00000453304.1	-	1	446	c.98C>A	c.(97-99)gCc>gAc	p.A33D	UNC5C_ENST00000504962.1_Missense_Mutation_p.A33D|UNC5C_ENST00000506749.1_Missense_Mutation_p.A33D	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	33					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		AGTGCCGCTGGCGCTGAGCAG	0.667000													4	26					5.9392e-07	8.86059e-07	1	1	0
ZNF804B	219578	broad.mit.edu	37	7	88963654	88963654	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:88963654C>A	ENST00000333190.4	+	4	1967	c.1358C>A	c.(1357-1359)aCc>aAc	p.T453N		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	453						intracellular	zinc ion binding	p.T453N(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GATGGCCACACCACTCTTCAA	0.413000										HNSCC(36;0.09)			6	57					8.12818e-05	0.000104036	1	1	0
PXDNL	137902	broad.mit.edu	37	8	52321180	52321180	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:52321180T>A	ENST00000356297.4	-	17	3104	c.3004A>T	c.(3004-3006)Agg>Tgg	p.R1002W	PXDNL_ENST00000543296.1_Missense_Mutation_p.R1002W	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1002					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				ACGATCTTCCTGGCTTCCTGG	0.632000													3	10					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14857642	14857642	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:14857642C>A	ENST00000380881.4	-	6	1552	c.737G>T	c.(736-738)cGt>cTt	p.R246L	FREM1_ENST00000422223.2_Missense_Mutation_p.R246L|FREM1_ENST00000380880.3_Missense_Mutation_p.R246L			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	246					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)		ATGCTGATAACGAAGGCCCAT	0.468000													8	38					0.00307968	0.00354221	1	1	0
ZNF785	146540	broad.mit.edu	37	16	30594427	30594427	+	Silent	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr16:30594427G>A	ENST00000395216.2	-	3	831	c.672C>T	c.(670-672)ggC>ggT	p.G224G	AC002310.7_ENST00000492040.1_RNA|ZNF785_ENST00000470110.1_Silent_p.G209G	NM_152458.6	NP_689671.2	A8K8V0	ZN785_HUMAN	zinc finger protein 785	224					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						AGGGCTTCTCGCCGGTGTGGA	0.687000													5	30					0	0	1	0	0
SNTG2	54221	broad.mit.edu	37	2	1271305	1271305	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:1271305T>A	ENST00000308624.5	+	14	1375	c.1246T>A	c.(1246-1248)Ttc>Atc	p.F416I	SNTG2_ENST00000407292.1_Missense_Mutation_p.F289I	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	416	PH.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GGAGAAGTCCTTCCAAAGAGC	0.547000													3	12					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117677901	117677901	+	Silent	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:117677901G>A	ENST00000368508.3	-	25	4230	c.4032C>T	c.(4030-4032)acC>acT	p.T1344T	ROS1_ENST00000368507.3_Silent_p.T1339T|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1344					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CTAGGTTAGAGGTATCAATAG	0.408000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								9	53					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197404338	197404338	+	Silent	SNP	T	T	C	rs62636278		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:197404338T>C	ENST00000367397.1	+	5	2346	c.1488T>C	c.(1486-1488)ggT>ggC	p.G496G	CRB1_ENST00000367400.3_Silent_p.G1115G|CRB1_ENST00000367399.2_Silent_p.G1003G|CRB1_ENST00000544212.1_Silent_p.G596G|CRB1_ENST00000535699.1_Silent_p.G1091G|CRB1_ENST00000538660.1_Intron			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1115	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ATGTTCATGGTTTCATTAATA	0.398000													7	58					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82579755	82579755	+	Missense_Mutation	SNP	C	C	G	rs149116161	by1000genomes	TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:82579755C>G	ENST00000423517.2	-	6	10486	c.10149G>C	c.(10147-10149)caG>caC	p.Q3383H	PCLO_ENST00000437081.1_Missense_Mutation_p.Q103H|PCLO_ENST00000333891.8_Missense_Mutation_p.Q3383H	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3314					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGGCAATGTACTGAGTAACAC	0.453000													6	38					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37026587	37026587	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:37026587A>C	ENST00000358047.3	+	1	156	c.104A>C	c.(103-105)cAc>cCc	p.H35P		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	35										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						AAGCGCAAGCACAGGCGCCTG	0.627000													4	13					0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35733267	35733267	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr13:35733267C>A	ENST00000400445.3	+	22	3493	c.2959C>A	c.(2959-2961)Ctt>Att	p.L987I	NBEA_ENST00000379939.2_Missense_Mutation_p.L987I|NBEA_ENST00000540320.1_Missense_Mutation_p.L987I|NBEA_ENST00000310336.4_Missense_Mutation_p.L987I	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	987						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CATCTCTGGTCTTTCATCACA	0.413000													8	41					5.18039e-06	7.33556e-06	1	1	0
OR1G1	8390	broad.mit.edu	37	17	3030084	3030084	+	Silent	SNP	A	A	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:3030084A>T	ENST00000328890.2	-	1	791	c.762T>A	c.(760-762)acT>acA	p.T254T		NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G, member 1	254					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						CACAAAAAGAAGTCCCAAAGA	0.493000													4	35					0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35517223	35517223	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr13:35517223G>C	ENST00000400445.3	+	1	800	c.266G>C	c.(265-267)aGg>aCg	p.R89T	NBEA_ENST00000379939.2_Missense_Mutation_p.R89T|NBEA_ENST00000540320.1_Missense_Mutation_p.R89T|NBEA_ENST00000310336.4_Missense_Mutation_p.R89T	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	89						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GTCAGCAACAGGGACATCGTG	0.577000													6	66					0	0	1	0	0
FIGN	55137	broad.mit.edu	37	2	164468078	164468078	+	Silent	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:164468078G>T	ENST00000333129.3	-	3	578	c.264C>A	c.(262-264)ctC>ctA	p.L88L	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'UTR	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	88						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						AATAGTTGCTGAGTACGGGTC	0.458000													12	134					0.38729	0.392414	1	1	0
PCDHB7	56129	broad.mit.edu	37	5	140553068	140553068	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:140553068G>T	ENST00000231137.3	+	1	826	c.652G>T	c.(652-654)Ggc>Tgc	p.G218C		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		218	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G218S(1)|p.G218C(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTAGACGGCGGCTCTCCTCC	0.537000													8	47					0.000157383	0.000199497	1	1	0
CCSER1	401145	broad.mit.edu	37	4	91230659	91230659	+	Silent	SNP	A	A	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:91230659A>G	ENST00000509176.1	+	2	1512	c.1224A>G	c.(1222-1224)aaA>aaG	p.K408K	CCSER1_ENST00000432775.2_Silent_p.K408K|CCSER1_ENST00000333691.8_Silent_p.K408K	NM_001145065.1	NP_001138537.1			coiled-coil serine-rich protein 1																		AACATGTAAAAGGGATCCATC	0.358000													7	69					0	0	1	0	0
TMEM5	10329	broad.mit.edu	37	12	64196035	64196035	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:64196035T>A	ENST00000261234.6	+	4	751	c.593T>A	c.(592-594)gTt>gAt	p.V198D	TMEM5_ENST00000537373.1_5'UTR	NM_014254.1	NP_055069.1	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	198						integral to plasma membrane				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		CATCTTGCTGTTGTTTTGCTC	0.363000													12	49					0	0	1	0	0
LRRC6	23639	broad.mit.edu	37	8	133673704	133673704	+	Splice_Site	SNP	A	A	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:133673704A>T	ENST00000519595.1	-	2	277		c.e2+1		LRRC6_ENST00000518642.1_Splice_Site|LRRC6_ENST00000520446.1_Splice_Site|LRRC6_ENST00000250173.1_Splice_Site			Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6							cytoplasm				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			ACTGAAACTTACCAATTTTCC	0.318000													5	19					0	0	1	0	0
TRBV6-7	28600	broad.mit.edu	37	7	142143669	142143669	+	RNA	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:142143669G>C	ENST00000390373.2	-	0	326																											TGCTGGCACAGAAGTAAACAG	0.532000													16	59					0	0	1	0	0
CHSY3	337876	broad.mit.edu	37	5	129521390	129521390	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:129521390G>T	ENST00000305031.4	+	3	2913	c.2555G>T	c.(2554-2556)gGa>gTa	p.G852V		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	852						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)		ATGTGCTTAGGATCCAAGGCA	0.448000													12	37					6.40141e-05	8.33271e-05	1	1	0
LRRC6	23639	broad.mit.edu	37	8	133673835	133673835	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:133673835C>G	ENST00000519595.1	-	2	147	c.49G>C	c.(49-51)Gac>Cac	p.D17H	LRRC6_ENST00000518642.1_Missense_Mutation_p.D17H|LRRC6_ENST00000520446.1_5'UTR|LRRC6_ENST00000250173.1_Missense_Mutation_p.D17H			Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	17						cytoplasm				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			ATGACACAGTCGTTGTGTTCA	0.363000													6	27					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215840691	215840691	+	Silent	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:215840691G>C	ENST00000272895.7	-	34	5418	c.5199C>G	c.(5197-5199)ctC>ctG	p.L1733L	ABCA12_ENST00000389661.4_Silent_p.L1415L	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1733					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ACCTCTTGATGAGTATAGCCA	0.478000													4	43					0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108773671	108773671	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:108773671G>A	ENST00000232603.5	-	14	1316	c.1234C>T	c.(1234-1236)Cat>Tat	p.H412Y	MORC1_ENST00000483760.1_Missense_Mutation_p.H412Y	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	412					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TGTTTATTATGGGATGGTTCC	0.388000													8	69					0	0	1	0	0
FAM170A	340069	broad.mit.edu	37	5	118970399	118970399	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:118970399G>T	ENST00000515256.1	+	3	1128	c.956G>T	c.(955-957)gGc>gTc	p.G319V				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	319						intracellular	zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						CAATGTCCAGGCTGTGTGTTT	0.557000													8	31					5.18039e-06	7.33556e-06	1	1	0
HDAC6	10013	broad.mit.edu	37	X	48674002	48674002	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:48674002G>T	ENST00000334136.5	+	16	1455	c.1277G>T	c.(1276-1278)tGt>tTt	p.C426F	HDAC6_ENST00000444343.2_Missense_Mutation_p.C440F|HDAC6_ENST00000376619.2_Missense_Mutation_p.C426F			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	426					aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule 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)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	TCAGTTTCCTGTGCTCTGGAA	0.612000													5	20					0.184627	0.188945	1	1	0
BMPER	168667	broad.mit.edu	37	7	34192759	34192759	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:34192759G>C	ENST00000297161.2	+	16	2306	c.1932G>C	c.(1930-1932)aaG>aaC	p.K644N	BMPER_ENST00000426693.1_Missense_Mutation_p.K644N	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	644	TIL.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GATGTATCAAGACGTGTGACA	0.512000													8	78					0	0	1	0	0
LARP4B	23185	broad.mit.edu	37	10	863665	863665	+	Splice_Site	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:863665C>A	ENST00000316157.3	-	14	1735	c.1695_splice	c.e14+1	p.R565_splice		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	565							nucleotide binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						TATCCCTTACCCTTTCTTTGG	0.438000													16	145					6.31663e-08	9.83895e-08	1	1	0
KCNA4	3739	broad.mit.edu	37	11	30034131	30034131	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:30034131C>A	ENST00000328224.6	-	2	1328	c.95G>T	c.(94-96)aGg>aTg	p.R32M		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	32						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						GTGAGCAAGCCTCTCCCGCTC	0.647000													9	70					5.4927e-09	8.79407e-09	1	1	0
EPHA7	2045	broad.mit.edu	37	6	93979302	93979302	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:93979302G>C	ENST00000369303.4	-	7	1710	c.1526C>G	c.(1525-1527)aCa>aGa	p.T509R		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	509	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		AACATACACTGTTCCTGGTTT	0.398000													9	77					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10357072	10357072	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:10357072G>C	ENST00000255381.2	-	23	2932	c.2822C>G	c.(2821-2823)aCa>aGa	p.T941R	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	941					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTTCTTGGCTGTCAGCTCAGC	0.438000													18	176					0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56249551	56249551	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:56249551G>T	ENST00000332836.2	-	1	217	c.190C>A	c.(190-192)Cca>Aca	p.P64T		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	64	DAPIN.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TGCTTTCCTGGGTAATGTTTG	0.463000													36	337					1.22384e-17	2.08279e-17	1	1	0
OR2W5	441932	broad.mit.edu	37	1	247655379	247655379	+	RNA	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:247655379G>A	ENST00000522351.1	+	0	1010							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	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;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GCCTCAACGAGGGGAACACTC	0.498000													6	55					0	0	1	0	0
BNIP3P1	319138	broad.mit.edu	37	14	28733843	28733843	+	RNA	SNP	A	A	C	rs10135219	by1000genomes	TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr14:28733843A>C	ENST00000550043.1	+	0	248																											ATAATGGGAAAGGGGGCAGTG	0.542000													3	29					0	0	1	0	0
GLRA3	8001	broad.mit.edu	37	4	175565066	175565066	+	Silent	SNP	G	G	T	rs142571571	byFrequency	TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:175565066G>T	ENST00000274093.3	-	10	1768	c.1266C>A	c.(1264-1266)atC>atA	p.I422I	GLRA3_ENST00000340217.5_Silent_p.I407I	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	422					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	p.I422I(1)		endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	TGGCCCGGTCGATAAAGACCT	0.438000													15	85					3.27435e-08	5.14381e-08	1	1	0
DIXDC1	85458	broad.mit.edu	37	11	111864411	111864411	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:111864411C>A	ENST00000440460.2	+	15	1678	c.1381C>A	c.(1381-1383)Cta>Ata	p.L461I	DIXDC1_ENST00000315253.5_Missense_Mutation_p.L250I|DIXDC1_ENST00000389821.4_3'UTR	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1	462					multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|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;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		AGAGCGAGAGCTAGAACACAA	0.458000													11	23					3.86212e-05	5.09224e-05	1	1	0
ZNF43	7594	broad.mit.edu	37	19	21990520	21990520	+	Silent	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:21990520T>C	ENST00000594012.1	-	7	2815	c.2301A>G	c.(2299-2301)caA>caG	p.Q767Q	ZNF43_ENST00000354959.4_Silent_p.Q773Q|ZNF43_ENST00000598381.1_Silent_p.Q767Q|ZNF43_ENST00000595461.1_Silent_p.Q767Q	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	773					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		GGTTTGAATATTGGTTGAAAG	0.338000													3	22					0	0	1	0	0
LRRC66	339977	broad.mit.edu	37	4	52869413	52869413	+	Silent	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:52869413G>A	ENST00000343457.3	-	2	648	c.642C>T	c.(640-642)gcC>gcT	p.A214A		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	214						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GGTCCTTGAAGGCTTGTGGGG	0.343000													5	51					0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107460128	107460128	+	Silent	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:107460128G>T	ENST00000409382.3	-	2	916	c.306C>A	c.(304-306)tcC>tcA	p.S102S	ST6GAL2_ENST00000361686.4_Silent_p.S102S|ST6GAL2_ENST00000409087.3_Silent_p.S102S	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	102					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.S102S(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						ACCCATCTTGGGACTGGGCCC	0.587000													7	70					5.18039e-06	7.33556e-06	1	1	0
TIGD2	166815	broad.mit.edu	37	4	90035011	90035011	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:90035011G>A	ENST00000317005.2	+	1	1044	c.886G>A	c.(886-888)Gca>Aca	p.A296T		NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	296	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		TTTCCCCCCAGCACGTCCAAA	0.413000													6	44					0	0	1	0	0
PPM1E	22843	broad.mit.edu	37	17	57057541	57057541	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:57057541C>A	ENST00000308249.2	+	7	1546	c.1417C>A	c.(1417-1419)Cgt>Agt	p.R473S		NM_014906.4	NP_055721.3	Q8WY54	PPM1E_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	482	PP2C-like.				protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			GGCATCAGCTCGTGATGCTGG	0.463000													15	60					2.31682e-05	3.13112e-05	1	1	0
AC096579.13	0	broad.mit.edu	37	2	89156940	89156940	+	RNA	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:89156940G>T	ENST00000452230.1	-	0	39				AC096579.7_ENST00000430694.1_RNA|IGKC_ENST00000390237.2_RNA																							TGACTTCGCAGGCGTAGACTT	0.572000													6	44					3.59834e-05	4.79257e-05	1	1	0
SYNJ2	8871	broad.mit.edu	37	6	158485661	158485661	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:158485661G>A	ENST00000355585.4	+	10	1313	c.1238G>A	c.(1237-1239)gGg>gAg	p.G413E	SYNJ2_ENST00000367121.3_Missense_Mutation_p.G413E|SYNJ2_ENST00000449859.2_Missense_Mutation_p.G341E|SYNJ2_ENST00000367122.2_Missense_Mutation_p.G413E	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	413	SAC.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		AAGACCCTGGGGCTGAGTTCA	0.572000													6	73					0	0	1	0	0
CHN2	1124	broad.mit.edu	37	7	29440186	29440186	+	Silent	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:29440186G>A	ENST00000222792.6	+	6	848	c.318G>A	c.(316-318)agG>agA	p.R106R	CHN2_ENST00000539389.1_Intron|CHN2_ENST00000495789.2_Silent_p.R119R|CHN2_ENST00000539406.1_Silent_p.R181R|CHN2_ENST00000435288.2_Intron|CHN2_ENST00000546235.1_Silent_p.R91R	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	106	SH2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						TAAACTACAGGCTCTTCCACG	0.438000													6	64					0	0	1	0	0
KIF5C	3800	broad.mit.edu	37	2	149857292	149857292	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:149857292C>G	ENST00000435030.1	+	21	2737	c.2369C>G	c.(2368-2370)aCa>aGa	p.T790R	KIF5C_ENST00000397413.1_Missense_Mutation_p.T558R|KIF5C_ENST00000414838.2_Missense_Mutation_p.T695R|KIF5C_ENST00000464066.1_3'UTR			O60282	KIF5C_HUMAN	kinesin family member 5C	790					microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		CTGGAGGAGACAGTGGTATGT	0.413000													6	62					0	0	1	0	0
CD209	30835	broad.mit.edu	37	19	7810929	7810929	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:7810929C>T	ENST00000315599.7	-	4	245	c.223G>A	c.(223-225)Gac>Aac	p.D75N	CD209_ENST00000601256.1_Missense_Mutation_p.D51N|CD209_ENST00000301357.8_Missense_Mutation_p.D31N|CD209_ENST00000602261.1_Missense_Mutation_p.D75N|CD209_ENST00000601951.1_Missense_Mutation_p.D51N|CD209_ENST00000593660.1_Missense_Mutation_p.D51N|CD209_ENST00000593821.1_Missense_Mutation_p.D31N|CD209_ENST00000394161.5_Intron|CD209_ENST00000394173.4_Missense_Mutation_p.D75N|CD209_ENST00000204801.8_Missense_Mutation_p.D31N|CD209_ENST00000354397.6_Missense_Mutation_p.D75N|CD209_ENST00000315591.8_Missense_Mutation_p.D51N	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	75					cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TAGATCGCGTCTTGCCTGGAT	0.507000													12	76					0	0	1	0	0
OR4A16	81327	broad.mit.edu	37	11	55111430	55111430	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:55111430T>C	ENST00000314721.2	+	1	804	c.754T>C	c.(754-756)Tgt>Cgt	p.C252R		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	252					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TTTTGTTCCCTGTATTTTTAT	0.373000													9	77					0	0	1	0	0
EMILIN2	84034	broad.mit.edu	37	18	2909754	2909754	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr18:2909754G>T	ENST00000254528.3	+	7	2920	c.2761G>T	c.(2761-2763)Ggg>Tgg	p.G921W	EMILIN2_ENST00000308080.5_3'UTR	NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	921	C1q.				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CCCCAGTGATGGGGGCGTTGT	0.557000													4	50					0.00024832	0.000309642	1	1	0
CACNA1D	776	broad.mit.edu	37	3	53814125	53814125	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:53814125G>T	ENST00000288139.3	+	39	4838	c.4720G>T	c.(4720-4722)Gtt>Ttt	p.V1574F	CACNA1D_ENST00000350061.5_Missense_Mutation_p.V1554F|CACNA1D_ENST00000540742.1_Missense_Mutation_p.V446F|CACNA1D_ENST00000422281.2_Missense_Mutation_p.V1539F	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1554					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GTTTGCTTTGGTTCGAACGGC	0.468000													8	25					1.06961e-07	1.64929e-07	1	1	0
HIPK2	28996	broad.mit.edu	37	7	139288949	139288949	+	Silent	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:139288949G>T	ENST00000406875.3	-	10	2227	c.2133C>A	c.(2131-2133)acC>acA	p.T711T	HIPK2_ENST00000342645.6_Silent_p.T711T|HIPK2_ENST00000428878.2_Silent_p.T684T	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	711	Interaction with SKI and SMAD1.			T -> N (in Ref. 4; AAG35710).	apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GGATCTGCTGGGTCCCACTTG	0.532000													8	92					3.09899e-07	4.6688e-07	1	1	0
TAS2R1	50834	broad.mit.edu	37	5	9629281	9629281	+	Silent	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:9629281T>C	ENST00000382492.2	-	1	1182	c.864A>G	c.(862-864)gcA>gcG	p.A288A	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	288					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						GGAACTTTTTTGCATTTTGTT	0.393000													9	57					0	0	1	0	0
OR9A2	135924	broad.mit.edu	37	7	142724147	142724147	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:142724147T>C	ENST00000350513.2	-	1	135	c.73A>G	c.(73-75)Att>Gtt	p.I25V		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					GCAAAAAGAATGTGGTGTAGT	0.423000													7	46					0	0	1	0	0
EVC2	132884	broad.mit.edu	37	4	5627630	5627630	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:5627630C>T	ENST00000310917.2	-	13	2383	c.1652G>A	c.(1651-1653)gGg>gAg	p.G551E	EVC2_ENST00000344938.1_Missense_Mutation_p.G631E|EVC2_ENST00000344408.5_Missense_Mutation_p.G631E	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	631						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						ATCCAGGTACCCTGCTCTAGA	0.418000													3	25					0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57640633	57640633	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:57640633C>T	ENST00000254181.4	+	4	1044	c.590C>T	c.(589-591)aCa>aTa	p.T197I	USP29_ENST00000598197.1_Missense_Mutation_p.T197I	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	197					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAATATAAGACAGATTCCTTG	0.368000													12	43					0	0	1	0	0
PMS2CL	441194	broad.mit.edu	37	7	6776818	6776818	+	RNA	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:6776818G>A	ENST00000486256.1	+	0	945					NR_002217.1																						TCCATTTCCAGACTGCGAGAG	0.483000													6	42					0	0	1	0	0
CNBD1	168975	broad.mit.edu	37	8	88366014	88366014	+	Splice_Site	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:88366014G>T	ENST00000518476.1	+	10	1354	c.1303_splice	c.e10+1	p.V435_splice		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	435										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						GGACCTATTTGGTAAATGCAT	0.289000													3	26					0.004672	0.00531382	1	1	0
EPB41L2	2037	broad.mit.edu	37	6	131206291	131206291	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:131206291C>T	ENST00000337057.3	-	12	1959	c.1778G>A	c.(1777-1779)aGg>aAg	p.R593K	EPB41L2_ENST00000525271.1_Missense_Mutation_p.R593K|EPB41L2_ENST00000528282.1_Missense_Mutation_p.R593K|EPB41L2_ENST00000525193.1_Missense_Mutation_p.R593K|EPB41L2_ENST00000392427.3_Missense_Mutation_p.R593K|EPB41L2_ENST00000529208.1_Missense_Mutation_p.R593K|EPB41L2_ENST00000530481.1_Missense_Mutation_p.R593K|EPB41L2_ENST00000527411.1_Missense_Mutation_p.R593K|EPB41L2_ENST00000368128.2_Missense_Mutation_p.R593K|EPB41L2_ENST00000445890.2_Missense_Mutation_p.R593K|EPB41L2_ENST00000527659.1_Missense_Mutation_p.R593K	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	593	Hydrophilic.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CACTTCCCTCCTGCCGTCCCC	0.468000											OREG0017660	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	55					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179476362	179476362	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:179476362C>A	ENST00000589042.1	-	269	50818	c.50594G>T	c.(50593-50595)gGg>gTg	p.G16865V	TTN_ENST00000591111.1_Missense_Mutation_p.G15224V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G7800V|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G7992V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G14297V|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G7925V|TTN-AS1_ENST00000589234.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15224	Fibronectin type-III 22.						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)			GTGTTTTCTCCCAGCATCAGT	0.433000													11	71					1.58986e-06	2.32287e-06	1	1	0
PLXNA1	5361	broad.mit.edu	37	3	126751349	126751349	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:126751349G>T	ENST00000251772.4	+	29	5351	c.5282G>T	c.(5281-5283)tGc>tTc	p.C1761F	PLXNA1_ENST00000505278.1_3'UTR|PLXNA1_ENST00000393409.2_Missense_Mutation_p.C1784F			Q9UIW2	PLXA1_HUMAN	plexin A1	1784					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		ATGGACTCCTGCTCCACCTCT	0.557000													9	53					0.000274275	0.00034016	1	1	0
HEPHL1	341208	broad.mit.edu	37	11	93837916	93837916	+	Splice_Site	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:93837916G>A	ENST00000315765.9	+	16	2913	c.2905_splice	c.e16+1	p.A969_splice		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	969	Plastocyanin-like 6.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CAGAATGCATGGTATATCCAA	0.398000													6	81					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168102625	168102625	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:168102625G>A	ENST00000409195.1	+	9	4812	c.4723G>A	c.(4723-4725)Gat>Aat	p.D1575N	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D1353N|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.D1575N	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1400					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						CATTGAAGCTGATGAAATAGG	0.363000													10	46					0	0	1	0	0
NEUROD6	63974	broad.mit.edu	37	7	31378147	31378147	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:31378147T>A	ENST00000297142.3	-	2	1058	c.736A>T	c.(736-738)Agt>Tgt	p.S246C		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	246					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						GGGGAAGTACTTTCATAGAAG	0.468000													5	53					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50918126	50918126	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr18:50918126G>T	ENST00000442544.2	+	17	3173	c.2557G>T	c.(2557-2559)Gtg>Ttg	p.V853L	DCC_ENST00000412726.1_Missense_Mutation_p.V681L|DCC_ENST00000581580.1_Missense_Mutation_p.V488L	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	853	Fibronectin type-III 5.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGTACAGGCTGTGGCTCTTAC	0.542000													9	84					3.09899e-07	4.6688e-07	1	1	0
APOB	338	broad.mit.edu	37	2	21234969	21234969	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:21234969A>T	ENST00000233242.1	-	26	4898	c.4771T>A	c.(4771-4773)Ttc>Atc	p.F1591I		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1591					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)	TGCTTAGAGAAGGTCATATCC	0.413000													7	49					0	0	1	0	0
ABI2	10152	broad.mit.edu	37	2	204259499	204259499	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:204259499C>T	ENST00000295851.4	+	6	951	c.655C>T	c.(655-657)Cgt>Tgt	p.R219C	ABI2_ENST00000261018.7_Intron|ABI2_ENST00000424558.1_Missense_Mutation_p.R213C|ABI2_ENST00000422511.2_Missense_Mutation_p.R219C|RAPH1_ENST00000457812.1_3'UTR|ABI2_ENST00000430574.1_3'UTR|ABI2_ENST00000261017.5_Missense_Mutation_p.R213C|ABI2_ENST00000261016.6_Missense_Mutation_p.R168C|ABI2_ENST00000430418.1_Intron			Q9NYB9	ABI2_HUMAN	abl-interactor 2	219	Pro-rich.				actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding			breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						TAGCCCAACCCGTAATATGGC	0.493000													14	78					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54307054	54307054	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr15:54307054G>T	ENST00000545554.1	+	1	1954	c.1954G>T	c.(1954-1956)Gag>Tag	p.E652*	UNC13C_ENST00000260323.11_Nonsense_Mutation_p.E652*|UNC13C_ENST00000537900.1_Nonsense_Mutation_p.E652*			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	652					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTCTTTACATGAGGATCTTTC	0.418000													5	53					0.014758	0.0159185	1	1	0
USP48	84196	broad.mit.edu	37	1	22047643	22047643	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:22047643delC	ENST00000308271.9	-	14	2428	c.1780delG	c.(1780-1782)tgfs	p.V594fs	USP48_ENST00000529637.1_Frame_Shift_Del_p.V593fs|USP48_ENST00000374732.3_Frame_Shift_Del_p.V132fs|USP48_ENST00000400301.1_Frame_Shift_Del_p.V594fs	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	594	DUSP 2.				ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		GACTTCCCCACCCAAAATCCA	0.453													7	78	---	---	---	---					
ZNF593	51042	broad.mit.edu	37	1	26497002	26497003	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:26497002_26497003insG	ENST00000270812.5	+	2	336_337	c.294_295insG	c.(292-297)gaggtgfs	p.V99fs	RP11-96L14.7_ENST00000407889.2_RNA|RP11-96L14.7_ENST00000448923.1_RNA|ZNF593_ENST00000374266.5_Intron|RP11-96L14.7_ENST00000414762.1_RNA|RP11-96L14.7_ENST00000444682.1_RNA|RP11-96L14.7_ENST00000433939.1_RNA			O00488	ZN593_HUMAN	zinc finger protein 593	0					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleolus	DNA binding|transcription corepressor activity|zinc ion binding			large_intestine(4)|prostate(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		GATTGATGGATGGGTGCTCAGC	0.520													15	83	---	---	---	---					
CCDC50	152137	broad.mit.edu	37	3	191075800	191075800	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:191075800delG	ENST00000392455.3	+	3	724	c.126delG	c.(124-126)ttfs	p.L42fs	CCDC50_ENST00000392456.3_Frame_Shift_Del_p.L42fs	NM_174908.3	NP_777568.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50	42						cytoplasm	protein binding			endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		AGCATCATTTGGCATCGAACG	0.443													28	99	---	---	---	---					
GRID2	2895	broad.mit.edu	37	4	94377085	94377086	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:94377085_94377086insA	ENST00000282020.4	+	11	2076_2077	c.1818_1819insA	c.(1816-1821)taactcfs	p.L607fs	GRID2_ENST00000510992.1_Frame_Shift_Ins_p.L512fs	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	607					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)	CTACTCTCTACAACTCCATGTG	0.406													9	70	---	---	---	---					
BTN3A2	11118	broad.mit.edu	37	6	26373200	26373200	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:26373200delC	ENST00000356386.2	+	6	979	c.791delC	c.(790-792)gcfs	p.A264fs	BTN3A2_ENST00000377708.2_Frame_Shift_Del_p.A264fs|BTN3A2_ENST00000527422.1_Frame_Shift_Del_p.A264fs|BTN3A2_ENST00000396934.3_Frame_Shift_Del_p.A241fs|BTN3A2_ENST00000396948.1_Frame_Shift_Del_p.A264fs|BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000508906.2_Frame_Shift_Del_p.A222fs	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2	264						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						CTGCTTCTCGCCGGAGCCAGT	0.542													7	46	---	---	---	---					
TDRD6	221400	broad.mit.edu	37	6	46657289	46657290	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:46657289_46657290insC	ENST00000544460.1	+	1	1678_1679	c.1424_1425insC	c.(1423-1425)cccfs	p.P475fs	TDRD6_ENST00000316081.6_Frame_Shift_Ins_p.P475fs	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	475					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)			GAGATTTCACTCCCAGCCTTAA	0.450													13	62	---	---	---	---					
NR6A1	2649	broad.mit.edu	37	9	127316734	127316734	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:127316734delC	ENST00000487099.2	-	3	415	c.258delG	c.(256-258)cgfs	p.R86fs	NR6A1_ENST00000373584.3_Frame_Shift_Del_p.R82fs|NR6A1_ENST00000344523.4_Frame_Shift_Del_p.R86fs|NR6A1_ENST00000416460.2_Frame_Shift_Del_p.R82fs	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	86					cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						TGCAAATGCTCCGCTTGAAAA	0.522													28	43	---	---	---	---					
ZBTB43	23099	broad.mit.edu	37	9	129595836	129595838	+	In_Frame_Del	DEL	AAT	AAT	-			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:129595836_129595838delAAT	ENST00000373464.4	+	3	1312_1314	c.1048_1050delAAT	c.(1048-1050)del	p.N350del	ZBTB43_ENST00000373457.1_In_Frame_Del_p.N350del|ZBTB43_ENST00000449886.1_In_Frame_Del_p.N350del	NM_014007.3	NP_054726.1	O43298	ZBT43_HUMAN	zinc finger and BTB domain containing 43	350					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						TTACAGTGAGAATATTGAAATGG	0.463													11	57	---	---	---	---					
SKIDA1	387640	broad.mit.edu	37	10	21805466	21805467	+	In_Frame_Ins	INS	-	-	CCTCCT	rs138084841	by1000genomes	TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:21805466_21805467insCCTCCT	ENST00000449193.2	-	4	3537_3538	c.1285_1286insAGGAGG	c.(1285-1287)ggg>AGGAGGggg	p.428_429insRR	SKIDA1_ENST00000444772.3_In_Frame_Ins_p.349_350insRR	NM_207371.3	NP_997254.3			SKI/DACH domain containing 1									p.E428_G429insEE(2)									CCCGCTGCccccctcctcctcc	0.619													3	6	---	---	---	---					
MRGPRX2	117194	broad.mit.edu	37	11	19077145	19077146	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:19077145_19077146insT	ENST00000329773.2	-	2	891_892	c.804_805insA	c.(802-807)tcctctfs	p.S269fs		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	269					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						CTGTTAAGAGATGACAGGACAA	0.485													10	50	---	---	---	---					
GDPD5	81544	broad.mit.edu	37	11	75146607	75146607	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:75146607delC	ENST00000526177.1	-	13	3227	c.1349delG	c.(1348-1350)gcfs	p.G450fs	GDPD5_ENST00000533784.1_Frame_Shift_Del_p.G469fs|GDPD5_ENST00000533805.1_Frame_Shift_Del_p.G343fs|GDPD5_ENST00000376282.3_Frame_Shift_Del_p.G469fs|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000529721.1_Frame_Shift_Del_p.G588fs|GDPD5_ENST00000336898.3_Frame_Shift_Del_p.G588fs			Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	588	GDPD.				glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						CCCTCGGGGGCCCACAGGGGT	0.582													10	39	---	---	---	---					
CCDC15	80071	broad.mit.edu	37	11	124908933	124908933	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:124908933delC	ENST00000529051.1	+	15	2994	c.2735delC	c.(2734-2736)gcfs	p.A912fs	CCDC15_ENST00000344762.5_Frame_Shift_Del_p.A901fs|CCDC15_ENST00000530061.1_3'UTR			Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	901						centrosome				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		GATACCTGTGCCAACAACTGT	0.388													12	66	---	---	---	---					
AHNAK2	113146	broad.mit.edu	37	14	105410568	105410569	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr14:105410568_105410569delCT	ENST00000333244.5	-	7	11338_11339	c.11219_11220delAG	c.(11218-11220)cfs	p.Q3740fs	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3740						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)			TGATGTCCACCTGGGGGCCCTT	0.634													25	158	---	---	---	---					
ITGAL	3683	broad.mit.edu	37	16	30510662	30510662	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr16:30510662delG	ENST00000356798.6	+	17	2177	c.1997delG	c.(1996-1998)ccfs	p.R666fs	RP11-297C4.1_ENST00000563751.1_RNA|ITGAL_ENST00000358164.5_Frame_Shift_Del_p.R583fs|ITGAL_ENST00000433423.2_Frame_Shift_Del_p.R62fs	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	666					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	TGCCCAGGCCGCCTGGTTGCC	0.592													9	84	---	---	---	---					
SLC4A1	6521	broad.mit.edu	37	17	42328879	42328879	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:42328879delC	ENST00000262418.6	-	18	2544	c.2389delG	c.(2389-2391)tcfs	p.V797fs		NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	797	Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		AGCGACGTGACCCCCATGTAG	0.592													12	40	---	---	---	---					
ZNF750	79755	broad.mit.edu	37	17	80789123	80789124	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:80789123_80789124insG	ENST00000269394.3	-	2	2040_2041	c.1207_1208insC	c.(1207-1209)cgcfs	p.R403fs	ZNF750_ENST00000572562.1_Frame_Shift_Ins_p.R4fs|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	403						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			ACTCCCTGCGCGGGGGCTCATT	0.609													8	98	---	---	---	---					
MUC16	94025	broad.mit.edu	37	19	9087443	9087443	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:9087443delC	ENST00000397910.4	-	1	4575	c.4372delG	c.(4372-4374)cafs	p.A1458fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1458	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGCCATGTTGCCATGGGGAGA	0.488													21	85	---	---	---	---					
TTI1	9675	broad.mit.edu	37	20	36634635	36634635	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr20:36634635delC	ENST00000373448.2	-	4	2705	c.2467delG	c.(2467-2469)cafs	p.A823fs	TTI1_ENST00000373447.3_Frame_Shift_Del_p.A823fs|TTI1_ENST00000449821.1_Frame_Shift_Del_p.A823fs	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	823							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						TTTCCATCTGCCACATCCTTC	0.388													12	118	---	---	---	---					
TBX1	6899	broad.mit.edu	37	22	19754184	19754184	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr22:19754184delG	ENST00000332710.4	+	9	1411	c.1282delG	c.(1282-1284)ggfs	p.G428fs	TBX1_ENST00000359500.3_Intron|TBX1_ENST00000329705.7_Intron	NM_080647.1	NP_542378.1	O43435	TBX1_HUMAN	T-box 1	56					embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				CCACTATCTCGGGGCCAAGAG	0.736													2	4	---	---	---	---					
NLGN4X	57502	broad.mit.edu	37	X	6069127	6069127	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:6069127delC	ENST00000381095.3	-	2	1008	c.381delG	c.(379-381)tgfs	p.W127fs	NLGN4X_ENST00000469740.1_5'UTR|NLGN4X_ENST00000381092.1_Frame_Shift_Del_p.W127fs|NLGN4X_ENST00000275857.6_Frame_Shift_Del_p.W127fs|NLGN4X_ENST00000381093.2_Frame_Shift_Del_p.W127fs|NLGN4X_ENST00000538097.1_Frame_Shift_Del_p.W127fs	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	127					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TGGCGGTAAACCAGATGGGCA	0.483													12	50	---	---	---	---					
VCX2	51480	broad.mit.edu	37	X	8138182	8138182	+	Frame_Shift_Del	DEL	A	A	-	rs41305169		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:8138182delA	ENST00000317103.4	-	3	617	c.311delT	c.(310-312)cgfs	p.L104fs		NM_016378.2	NP_057462.2	Q9H322	VCX2_HUMAN	variable charge, X-linked 2	104	2 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.		L -> P (in dbSNP:rs41305169).							endometrium(1)	1		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)				CTCCTGACTCAGGGGGTCGTG	0.667													2	4	---	---	---	---					
CXorf57	55086	broad.mit.edu	37	X	105905477	105905477	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:105905477delA	ENST00000372548.4	+	12	2320	c.2211delA	c.(2209-2211)ccfs	p.P737fs	CXorf57_ENST00000497124.1_3'UTR|CXorf57_ENST00000372544.2_Frame_Shift_Del_p.P640fs	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	737										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						GAAGGCCCCCAAAACTTGATG	0.368													10	28	---	---	---	---