Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
TTN	7273	broad.mit.edu	37	2	179428076	179428076	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:179428076T>A	ENST00000589042.1	-	326	83007	c.82783A>T	c.(82783-82785)Att>Ttt	p.I27595F	TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I25027F|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I18722F|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.I25954F|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I18655F|TTN_ENST00000460472.2_Missense_Mutation_p.I18530F|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25954							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)			CCATCATAAATTGGCTTACTC	0.507000													10	22					0	0	1	0	0
KIF14	9928	broad.mit.edu	37	1	200558410	200558410	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:200558410G>T	ENST00000367350.4	-	18	3487	c.3049C>A	c.(3049-3051)Cat>Aat	p.H1017N		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1017	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TGTTCAAGATGCTGCTTTGCC	0.323000													16	33					6.49762e-13	7.09905e-13	1	1	0
SNRK	54861	broad.mit.edu	37	3	43384866	43384866	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:43384866C>G	ENST00000296088.7	+	6	1279	c.975C>G	c.(973-975)atC>atG	p.I325M	SNRK_ENST00000437827.1_Missense_Mutation_p.I119M|SNRK_ENST00000454177.1_Missense_Mutation_p.I325M|SNRK_ENST00000429705.2_Missense_Mutation_p.I325M	NM_017719.4	NP_060189.3	Q9NRH2	SNRK_HUMAN	SNF related kinase	325	UBA.				myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		ATAACCATATCACAGCCACAT	0.448000													3	87					0	0	1	0	0
PTCHD1	139411	broad.mit.edu	37	X	23411277	23411277	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chrX:23411277T>A	ENST00000379361.4	+	3	2502	c.1642T>A	c.(1642-1644)Tac>Aac	p.Y548N		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	548					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						CCAGCAAAAGTACTTCAGCAA	0.433000													18	59					0	0	1	0	0
ROCK2	9475	broad.mit.edu	37	2	11333916	11333916	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:11333916T>C	ENST00000315872.6	-	30	4124	c.3676A>G	c.(3676-3678)Agg>Ggg	p.R1226G	ROCK2_ENST00000401753.1_Missense_Mutation_p.R983G	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	1226	PH.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TGGAATATCCTTGGAATTTCT	0.299000													15	30					0	0	1	0	0
PCDHGA8	9708	broad.mit.edu	37	5	140774311	140774311	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:140774311T>C	ENST00000398604.2	+	1	1931	c.1931T>C	c.(1930-1932)gTg>gCg	p.V644A	PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_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)			AGCCTCGTGGTGGCCGTCCAG	0.682000													22	32					0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113376934	113376934	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:113376934G>A	ENST00000316407.4	-	7	4005	c.3595C>T	c.(3595-3597)Cag>Tag	p.Q1199*	KIAA2018_ENST00000478658.1_Nonsense_Mutation_p.Q1199*|KIAA2018_ENST00000491165.1_Intron	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	1199					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						ATTGAACCCTGAGAATTAAAT	0.413000													21	17					0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121410945	121410945	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:121410945C>T	ENST00000393667.3	-	14	7376	c.7266G>A	c.(7264-7266)ctG>ctA	p.L2422L	GOLGB1_ENST00000340645.5_Silent_p.L2417L	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	2417	Poly-Glu.				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CCTCCTGGGACAGCAGGTTTT	0.403000													29	29					0	0	1	0	0
CNR1	1268	broad.mit.edu	37	6	88854586	88854586	+	Silent	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:88854586C>A	ENST00000537554.1	-	2	3970	c.408G>T	c.(406-408)ctG>ctT	p.L136L	CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000468898.1_Silent_p.L103L|CNR1_ENST00000549890.1_Silent_p.L136L|CNR1_ENST00000549716.1_Silent_p.L75L|CNR1_ENST00000369499.2_Silent_p.L136L|CNR1_ENST00000428600.2_Silent_p.L136L|CNR1_ENST00000369501.2_Silent_p.L136L|CNR1_ENST00000535130.1_Silent_p.L136L	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	136					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	CGCACAGCACCAGGAGGTTCT	0.617000													12	7					5.3912e-06	5.5681e-06	1	1	0
CD247	919	broad.mit.edu	37	1	167487650	167487650	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:167487650A>T	ENST00000392122.3	-	1	197	c.53T>A	c.(52-54)aTt>aAt	p.I18N	CD247_ENST00000483825.1_5'UTR|CD247_ENST00000362089.5_Missense_Mutation_p.I18N	NM_000734.3|NM_198053.2	NP_000725.1|NP_932170.1	P20963	CD3Z_HUMAN	CD247 molecule	18					interspecies interaction between organisms|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytoplasm|integral to membrane	protein homodimerization activity|transmembrane receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(543;0.236)			CCTACCTGTAATCGGCAACTG	0.587000													15	145					0	0	1	0	0
NADSYN1	55191	broad.mit.edu	37	11	71169536	71169536	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:71169536T>C	ENST00000319023.2	+	3	397	c.209T>C	c.(208-210)cTa>cCa	p.L70P		NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	70	CN hydrolase.				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TTTCAAGTCCTAGCGGCCCTT	0.542000													27	67					0	0	1	0	0
NBPF12	149013	broad.mit.edu	37	1	146399628	146399628	+	Splice_Site	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:146399628G>T	ENST00000442909.2	+	8	1402		c.e8+1		NBPF12_ENST00000446760.2_Splice_Site|NBPF12_ENST00000309471.8_Splice_Site					neuroblastoma breakpoint family, member 12											ovary(2)	2						CTGCCCCCAGGTAACACTGAA	0.418000													41	507					2.79145e-41	3.30672e-41	1	1	0
CD209	30835	broad.mit.edu	37	19	7810766	7810766	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:7810766C>T	ENST00000315599.7	-	4	408	c.386G>A	c.(385-387)cGg>cAg	p.R129Q	CD209_ENST00000394173.4_Intron|CD209_ENST00000601256.1_Missense_Mutation_p.R105Q|CD209_ENST00000394161.5_Intron|CD209_ENST00000601951.1_Missense_Mutation_p.R105Q|CD209_ENST00000354397.6_Missense_Mutation_p.R129Q|CD209_ENST00000593660.1_Missense_Mutation_p.R105Q|CD209_ENST00000602261.1_Missense_Mutation_p.R129Q|CD209_ENST00000593821.1_Missense_Mutation_p.R85Q|CD209_ENST00000315591.8_Missense_Mutation_p.R105Q|CD209_ENST00000301357.8_Missense_Mutation_p.R85Q|CD209_ENST00000204801.8_Missense_Mutation_p.R85Q	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	129	7 X approximate tandem repeats.				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						AGCCTTCAGCCGGGTCAGCTC	0.567000													7	214					0	0	1	0	0
CNKSR3	154043	broad.mit.edu	37	6	154727695	154727695	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:154727695G>A	ENST00000607772.1	-	13	2005	c.1461C>T	c.(1459-1461)ccC>ccT	p.P487P	CNKSR3_ENST00000433165.2_Silent_p.P312P|CNKSR3_ENST00000479339.1_Silent_p.P407P	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	487	DUF1170.				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		GCTCGGTCGTGGGTCTGGAGA	0.577000													31	23					0	0	1	0	0
NFIX	4784	broad.mit.edu	37	19	13201190	13201190	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:13201190C>A	ENST00000358552.3	+	8	1354	c.1354C>A	c.(1354-1356)Cca>Aca	p.P452T	NFIX_ENST00000587260.1_3'UTR|NFIX_ENST00000585575.1_Missense_Mutation_p.P486T|NFIX_ENST00000592199.1_Missense_Mutation_p.P494T|NFIX_ENST00000588228.1_Missense_Mutation_p.P447T|NFIX_ENST00000360105.4_3'UTR|NFIX_ENST00000397661.2_3'UTR|NFIX_ENST00000587760.1_3'UTR			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	494					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			TCTGAACATCCCACAGCAGTC	0.622000													17	59					2.21704e-12	2.41427e-12	1	1	0
MUC16	94025	broad.mit.edu	37	19	9086871	9086871	+	Silent	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:9086871G>T	ENST00000397910.4	-	1	5147	c.4944C>A	c.(4942-4944)gcC>gcA	p.A1648A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1648	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGGAAGGTGGGCTATGCCCA	0.517000													118	34					3.47496e-60	4.13865e-60	1	1	0
ITSN2	50618	broad.mit.edu	37	2	24535214	24535214	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:24535214C>G	ENST00000355123.4	-	5	662	c.219G>C	c.(217-219)aaG>aaC	p.K73N	ITSN2_ENST00000361999.3_Missense_Mutation_p.K73N|ITSN2_ENST00000406921.3_Missense_Mutation_p.K73N|ITSN2_ENST00000407704.1_5'UTR	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	73	EF-hand 1.|EH 1.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTGATCCATCTTCCCATCCT	0.453000													35	137					0	0	1	0	0
FAM188B	84182	broad.mit.edu	37	7	30831104	30831104	+	Silent	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:30831104C>G	ENST00000265299.6	+	5	1064	c.987C>G	c.(985-987)ctC>ctG	p.L329L	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	329										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCTTGAAGCTCTACTTGCCTG	0.627000													10	35					0	0	1	0	0
EML4	27436	broad.mit.edu	37	2	42552634	42552634	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:42552634G>C	ENST00000318522.5	+	20	2444	c.2182G>C	c.(2182-2184)Gac>Cac	p.D728H	EML4_ENST00000401738.3_Missense_Mutation_p.D739H|EML4_ENST00000453191.2_5'UTR|EML4_ENST00000402711.2_Missense_Mutation_p.D670H	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	728					microtubule-based process|mitosis	cytoplasm|microtubule	protein binding		EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						CACACACCTTGACTGGTCCCC	0.328000			T	ALK	NSCLC								3	10					0	0	1	0	0
HFM1	164045	broad.mit.edu	37	1	91784664	91784664	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:91784664A>G	ENST00000370425.3	-	25	2881	c.2783T>C	c.(2782-2784)cTg>cCg	p.L928P	HFM1_ENST00000294696.5_Missense_Mutation_p.L160P|HFM1_ENST00000370424.3_Missense_Mutation_p.L607P|HFM1_ENST00000462405.1_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	928	SEC63.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		GGATACATGCAGAGAGTTTTC	0.338000													20	5					0	0	1	0	0
RASAL1	8437	broad.mit.edu	37	12	113565880	113565880	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:113565880C>A	ENST00000546530.1	-	4	511	c.226G>T	c.(226-228)Gac>Tac	p.D76Y	RASAL1_ENST00000261729.5_Missense_Mutation_p.D76Y|RASAL1_ENST00000446861.3_Missense_Mutation_p.D76Y|RASAL1_ENST00000548055.1_Missense_Mutation_p.D76Y|RASAL1_ENST00000418411.2_5'UTR	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	76	C2 1.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						CCGACAGTGTCCTCATCCAGC	0.617000													309	201					1.72433e-176	2.0761e-176	1	1	0
SPICE1	152185	broad.mit.edu	37	3	113188079	113188079	+	Silent	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:113188079G>C	ENST00000295872.4	-	8	877	c.618C>G	c.(616-618)ctC>ctG	p.L206L		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	206					cell division|mitosis	centriole|spindle	protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						TTAGTTGTTGGAGAAACCTAT	0.289000													16	6					0	0	1	0	0
PDE3B	5140	broad.mit.edu	37	11	14856593	14856593	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:14856593C>T	ENST00000282096.4	+	11	2625	c.2272C>T	c.(2272-2274)Cct>Tct	p.P758S	PDE3B_ENST00000455098.2_Missense_Mutation_p.P707S	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	758	Catalytic (By similarity).				cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ACGGCCAGTTCCTGGCTTACA	0.383000													41	40					0	0	1	0	0
NELL1	4745	broad.mit.edu	37	11	20940866	20940866	+	Nonsense_Mutation	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:20940866A>T	ENST00000298925.5	+	8	982	c.829A>T	c.(829-831)Aag>Tag	p.K277*	NELL1_ENST00000532434.1_Nonsense_Mutation_p.K249*|NELL1_ENST00000357134.5_Nonsense_Mutation_p.K249*|NELL1_ENST00000325319.5_Nonsense_Mutation_p.K192*			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	249	VWFC 1.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GCTTTTGGCCAAGATGACTGC	0.323000													26	40					0	0	1	0	0
FKBP5	2289	broad.mit.edu	37	6	35586902	35586902	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:35586902G>C	ENST00000542713.1	-	5	636	c.479C>G	c.(478-480)tCa>tGa	p.S160*	FKBP5_ENST00000539068.1_Nonsense_Mutation_p.S160*|FKBP5_ENST00000540787.1_Intron|FKBP5_ENST00000536438.1_Nonsense_Mutation_p.S160*|FKBP5_ENST00000357266.4_Nonsense_Mutation_p.S160*	NM_001145777.1	NP_001139249.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	160	PPIase FKBP-type 2.				protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						GTTTGGATTTGAATATCCCTC	0.383000													47	4					0	0	1	0	0
CYLC1	1538	broad.mit.edu	37	X	83129107	83129107	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chrX:83129107G>T	ENST00000329312.4	+	4	1428	c.1391G>T	c.(1390-1392)gGg>gTg	p.G464V		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	464					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						GAAAAGAAGGGGAAGAAAGAT	0.348000													3	0					0.0215528	0.021717	1	1	0
EFCAB6	64800	broad.mit.edu	37	22	44031097	44031097	+	Splice_Site	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr22:44031097C>T	ENST00000262726.7	-	18	2237		c.e18-1		EFCAB6_ENST00000396231.2_Splice_Site	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CTTCCAGTACCTGACGAGGGA	0.572000													37	40					0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167196776	167196776	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:167196776C>G	ENST00000308378.3	-	15	2289	c.1984G>C	c.(1984-1986)Gct>Cct	p.A662P	WDR49_ENST00000476376.1_Missense_Mutation_p.A487P|SERPINI2_ENST00000476257.1_5'UTR|WDR49_ENST00000453925.2_Missense_Mutation_p.A627P|WDR49_ENST00000479765.1_3'UTR	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	662										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TCAAATACAGCTTTCAAAGCT	0.318000													2	9					0	0	1	0	0
MAGEB2	4113	broad.mit.edu	37	X	30237164	30237164	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chrX:30237164C>G	ENST00000378988.4	+	2	568	c.467C>G	c.(466-468)gCc>gGc	p.A156G		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	156	MAGE.						protein binding			breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						CTCAAGAAAGCCTCTGAGGGC	0.448000													8	0					0	0	1	0	0
OR51G2	81282	broad.mit.edu	37	11	4936589	4936589	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:4936589C>T	ENST00000322013.3	-	1	333	c.305G>A	c.(304-306)tGc>tAc	p.C102Y	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGAGCAAAGCAGGCATCATG	0.522000													4	11					0	0	1	0	0
MINK1	50488	broad.mit.edu	37	17	4797304	4797304	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:4797304C>T	ENST00000355280.6	+	22	2782	c.2586C>T	c.(2584-2586)agC>agT	p.S862S	MINK1_ENST00000347992.7_Silent_p.S833S|MINK1_ENST00000453408.3_Silent_p.S842S	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1	862					JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						ATACAGACAGCGTCAGCACCA	0.657000													6	11					0	0	1	0	0
ZNF876P	642280	broad.mit.edu	37	4	206531	206531	+	RNA	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:206531C>G	ENST00000356347.3	+	0	133					NR_027481.1																						TTGGATGATTCGTAGCTAAGA	0.632000													4	31					0	0	1	0	0
HIPK3	10114	broad.mit.edu	37	11	33370305	33370305	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:33370305C>T	ENST00000303296.4	+	13	2912	c.2607C>T	c.(2605-2607)gtC>gtT	p.V869V	HIPK3_ENST00000379016.3_Silent_p.V848V|HIPK3_ENST00000456517.1_Silent_p.V848V|HIPK3_ENST00000525975.1_Silent_p.V848V	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	869	Interaction with AR (By similarity).|Interaction with FAS (By similarity).|Required for localization to nuclear speckles (By similarity).|SUMO interaction motifs (SIM); required for nuclear localization and kinase activity (By similarity).				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						CAGTGAGTGTCATCACTATCA	0.473000													56	84					0	0	1	0	0
SS18	6760	broad.mit.edu	37	18	23637569	23637569	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr18:23637569C>T	ENST00000415083.2	-	4	424	c.369G>A	c.(367-369)atG>atA	p.M123I	SS18_ENST00000539849.1_Missense_Mutation_p.M41I|SS18_ENST00000545952.1_Missense_Mutation_p.M71I|SS18_ENST00000269137.7_Missense_Mutation_p.M123I|SS18_ENST00000585241.1_5'UTR|SS18_ENST00000542420.2_Missense_Mutation_p.M100I|SS18_ENST00000542743.1_Missense_Mutation_p.M71I	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	123	Transcriptional activation.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding		SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					TCTGGCCGTTCATCTGGTTCT	0.522000			T	"""SSX1,  SSX2"""	synovial sarcoma								39	49					0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25362208	25362208	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr13:25362208G>C	ENST00000255324.5	+	7	746	c.694G>C	c.(694-696)Gag>Cag	p.E232Q	RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000381921.1_Missense_Mutation_p.E232Q|RNF17_ENST00000255325.6_Missense_Mutation_p.E232Q	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	232					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)		CTACATTGAAGAGAAAAAAAA	0.303000													19	14					0	0	1	0	0
TSPO2	222642	broad.mit.edu	37	6	41010863	41010863	+	Silent	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:41010863T>C	ENST00000373161.1	+	2	384	c.139T>C	c.(139-141)Ttg>Ctg	p.L47L	TSPO2_ENST00000470917.1_Silent_p.L47L|TSPO2_ENST00000373158.2_Silent_p.L47L	NM_001010873.2	NP_001010873.1	Q5TGU0	TSPO2_HUMAN	translocator protein 2	47					transport	endoplasmic reticulum membrane|integral to membrane	cholesterol binding|receptor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CAAAGTCTTATTGCTTGTACA	0.537000													43	89					0	0	1	0	0
TRMT10A	93587	broad.mit.edu	37	4	100479265	100479265	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:100479265C>T	ENST00000273962.3	-	3	601	c.289G>A	c.(289-291)Gtt>Att	p.V97I	TRMT10A_ENST00000394877.3_Missense_Mutation_p.V97I|TRMT10A_ENST00000394876.2_Missense_Mutation_p.V97I	NM_152292.4	NP_689505.1			tRNA methyltransferase 10 homolog A (S. cerevisiae)																		GTGCTATGAACAACATCTCTT	0.353000													13	11					0	0	1	0	0
AP1B1	162	broad.mit.edu	37	22	29763219	29763219	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr22:29763219T>G	ENST00000357586.2	-	2	200	c.14A>C	c.(13-15)aAa>aCa	p.K5T	AP1B1_ENST00000405198.1_Missense_Mutation_p.K5T|AP1B1_ENST00000356015.2_Missense_Mutation_p.K5T|AP1B1_ENST00000402502.1_Missense_Mutation_p.K5T|AP1B1_ENST00000432560.2_Missense_Mutation_p.K5T|AP1B1_ENST00000317368.7_Missense_Mutation_p.K5T|AP1B1_ENST00000415447.1_Intron	NM_001127.3	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	5					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GGTGAAATATTTTGAGTCAGT	0.443000													13	43					0	0	1	0	0
NAPEPLD	222236	broad.mit.edu	37	7	102743924	102743924	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:102743924C>G	ENST00000417955.1	-	5	1288	c.1134G>C	c.(1132-1134)ttG>ttC	p.L378F	NAPEPLD_ENST00000465647.1_Missense_Mutation_p.L378F|NAPEPLD_ENST00000455523.2_Missense_Mutation_p.L451F|NAPEPLD_ENST00000341533.4_Missense_Mutation_p.L378F|NAPEPLD_ENST00000427257.1_Missense_Mutation_p.L378F			Q6IQ20	NAPEP_HUMAN	N-acyl phosphatidylethanolamine phospholipase D	378					phospholipid catabolic process	membrane	metal ion binding			endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CTCCATGCTTCAAGACAAAAA	0.348000													14	7					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144877097	144877097	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:144877097G>A	ENST00000369359.4	-	31	5036	c.4998C>T	c.(4996-4998)ttC>ttT	p.F1666F	PDE4DIP_ENST00000313382.9_Silent_p.F1486F|RP4-791M13.5_ENST00000531288.1_RNA|PDE4DIP_ENST00000369356.4_Silent_p.F1530F|PDE4DIP_ENST00000530740.1_Silent_p.F1666F|PDE4DIP_ENST00000369354.3_Silent_p.F1530F|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1530					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GTTGCTCCCGGAAGCTCTGTC	0.493000			T	PDGFRB	MPD								10	13					0	0	1	0	0
SERPINB7	8710	broad.mit.edu	37	18	61465923	61465923	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr18:61465923G>C	ENST00000398019.2	+	6	865	c.540G>C	c.(538-540)aaG>aaC	p.K180N	SERPINB7_ENST00000336429.2_Missense_Mutation_p.K180N|SERPINB7_ENST00000546027.1_Missense_Mutation_p.K180N|SERPINB7_ENST00000540675.1_Missense_Mutation_p.K163N	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	180					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				TCAAAGGCAAGTGGCAATCAG	0.393000													37	114					0	0	1	0	0
PELI3	246330	broad.mit.edu	37	11	66236342	66236342	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:66236342G>C	ENST00000320740.7	+	3	351	c.191G>C	c.(190-192)aGa>aCa	p.R64T	PELI3_ENST00000531856.1_Intron|PELI3_ENST00000349459.6_Intron|PELI3_ENST00000524466.1_Missense_Mutation_p.R64T	NM_001243136.1|NM_145065.2	NP_001230065.1|NP_659502.2	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	64						cytosol	protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						gaggctcagagaggggaagtg	0.527000													8	8					0	0	1	0	0
ZSWIM1	90204	broad.mit.edu	37	20	44511647	44511647	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr20:44511647G>T	ENST00000372523.1	+	2	511	c.416G>T	c.(415-417)tGg>tTg	p.W139L	ZSWIM1_ENST00000372520.1_Missense_Mutation_p.W139L	NM_080603.4	NP_542170.3	Q9BR11	ZSWM1_HUMAN	zinc finger, SWIM-type containing 1	139							zinc ion binding			breast(1)|endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13		Myeloproliferative disorder(115;0.028)				AATCCAGCATGGGAGAGAGTC	0.527000													23	69					7.92952e-12	8.59248e-12	1	1	0
NUTM1	256646	broad.mit.edu	37	15	34640693	34640693	+	Silent	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr15:34640693A>G	ENST00000537011.1	+	3	1006	c.624A>G	c.(622-624)ccA>ccG	p.P208P	NUTM1_ENST00000333756.4_Silent_p.P180P|NUTM1_ENST00000438749.3_Silent_p.P198P	NM_001284292.1	NP_001271221.1			NUT midline carcinoma, family member 1																		AAGCTTGGCCAGGGCCACATG	0.582000													10	7					0	0	1	0	0
KMT2E	55904	broad.mit.edu	37	7	104731675	104731675	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:104731675A>G	ENST00000334877.4	+	15	2170	c.1636A>G	c.(1636-1638)Att>Gtt	p.I546V	KMT2E_ENST00000257745.4_Missense_Mutation_p.I546V|KMT2E_ENST00000476671.1_Missense_Mutation_p.I546V|KMT2E_ENST00000311117.3_Missense_Mutation_p.I546V|KMT2E_ENST00000334914.7_5'UTR					lysine (K)-specific methyltransferase 2E																		ACCAGATTTTATTGATGATAT	0.318000													3	10					0	0	1	0	0
PNLIP	5406	broad.mit.edu	37	10	118327270	118327270	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr10:118327270C>T	ENST00000369221.2	+	13	1386	c.1358C>T	c.(1357-1359)aCc>aTc	p.T453I		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	453	PLAT.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	AGTCCAGAAACCGTCAGGGAG	0.433000													27	3					0	0	1	0	0
LINC00207	388910	broad.mit.edu	37	22	44965238	44965238	+	RNA	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr22:44965238G>A	ENST00000605505.1	+	0	7					NR_028409.1															lung(3)	3						atggagacggggatcagatgg	0.522000													23	42					0	0	1	0	0
LECT2	3950	broad.mit.edu	37	5	135288607	135288607	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:135288607C>A	ENST00000274507.1	-	2	296	c.96G>T	c.(94-96)gaG>gaT	p.E32D	LECT2_ENST00000512872.1_5'UTR|LECT2_ENST00000514447.2_Missense_Mutation_p.E32D|LECT2_ENST00000471827.1_5'UTR|LECT2_ENST00000522943.1_Missense_Mutation_p.E32D	NM_002302.2	NP_002293.2	O14960	LECT2_HUMAN	leukocyte cell-derived chemotaxin 2	32					chemotaxis|skeletal system development	cytoplasm|extracellular space				large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACGTCCGGATCTCATTGGAAG	0.507000													8	283					6.40141e-05	6.57039e-05	1	1	0
ADCY4	196883	broad.mit.edu	37	14	24800296	24800296	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:24800296G>A	ENST00000396747.3	-	6	952	c.65C>T	c.(64-66)cCa>cTa	p.P22L	ADCY4_ENST00000310677.4_Silent_p.A286A|ADCY4_ENST00000554068.2_Silent_p.A286A|ADCY4_ENST00000418030.2_Silent_p.A286A			Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	331					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		AACACTCGCTGGCCAGCCGCG	0.602000													21	29					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161022029	161022029	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:161022029C>A	ENST00000447678.1	-	20	3167	c.3047G>T	c.(3046-3048)cGa>cTa	p.R1016L	LPA_ENST00000316300.5_Missense_Mutation_p.R1016L	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3524	Kringle 9.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ATCTGAGCATCGTGTCAGGTT	0.498000													16	16					1.10513e-12	1.20543e-12	1	1	0
OR1A2	26189	broad.mit.edu	37	17	3100986	3100986	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:3100986C>T	ENST00000381951.1	+	1	174	c.174C>T	c.(172-174)ccC>ccT	p.P58P		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						TTCACAACCCCATGTATTTTC	0.463000													112	168					0	0	1	0	0
GSAP	54103	broad.mit.edu	37	7	76950709	76950709	+	Silent	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:76950709A>G	ENST00000257626.7	-	25	2013	c.1935T>C	c.(1933-1935)atT>atC	p.I645I	GSAP_ENST00000441833.2_Intron|GSAP_ENST00000440473.1_5'UTR	NM_017439.3	NP_059135.2			gamma-secretase activating protein																		CGATGTGGCAAATGAGATCCA	0.453000													4	86					0	0	1	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70744123	70744123	+	Silent	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr8:70744123G>T	ENST00000260126.4	-	2	1492	c.786C>A	c.(784-786)gtC>gtA	p.V262V	SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000524945.1_Silent_p.V262V|SLCO5A1_ENST00000530307.1_Silent_p.V262V	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1							integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			AAGCCACGTAGACCCAGTGAT	0.542000													40	16					1.05386e-31	1.2395e-31	1	1	0
HSPB9	94086	broad.mit.edu	37	17	40275025	40275025	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:40275025G>T	ENST00000355067.3	+	1	270	c.157G>T	c.(157-159)Ggt>Tgt	p.G53C	CTD-2132N18.3_ENST00000592574.1_Intron	NM_033194.2	NP_149971.1	Q9BQS6	HSPB9_HUMAN	heat shock protein, alpha-crystallin-related, B9	53					response to stress	cytoplasm|nucleus	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	4		all_cancers(22;0.00064)|Breast(137;0.00104)|all_epithelial(22;0.00866)		BRCA - Breast invasive adenocarcinoma(366;0.124)		TGCCAGAGACGGTTTCCAAAT	0.627000													3	98					1	1	1	1	0
MED15	51586	broad.mit.edu	37	22	20937496	20937496	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr22:20937496C>A	ENST00000263205.7	+	12	1703	c.1634C>A	c.(1633-1635)cCc>cAc	p.P545H	MED15_ENST00000425759.2_Missense_Mutation_p.P394H|MED15_ENST00000292733.7_Missense_Mutation_p.P505H|MED15_ENST00000478831.1_3'UTR|MED15_ENST00000541476.1_Missense_Mutation_p.P479H|MED15_ENST00000406969.1_Missense_Mutation_p.P479H|MED15_ENST00000542773.1_3'UTR|MED15_ENST00000382974.2_Missense_Mutation_p.P434H	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	545					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			TACATCGAGCCCCTGCGCCGC	0.607000													10	9					0.000442599	0.000452176	1	1	0
EXT2	2132	broad.mit.edu	37	11	44255775	44255775	+	Silent	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:44255775G>T	ENST00000395673.3	+	12	2072	c.2016G>T	c.(2014-2016)acG>acT	p.T672T	EXT2_ENST00000533608.1_Silent_p.T639T|EXT2_ENST00000358681.4_Silent_p.T649T|EXT2_ENST00000343631.3_Silent_p.T639T	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	639					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						CCAACGTCACGGGAAAAGCAG	0.433000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses				23	16					8.24728e-16	9.19301e-16	1	1	0
ZNF679	168417	broad.mit.edu	37	7	63721301	63721301	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:63721301C>T	ENST00000421025.1	+	4	525	c.256C>T	c.(256-258)Cac>Tac	p.H86Y	ZNF679_ENST00000255746.4_Missense_Mutation_p.H86Y	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	86	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						GGTAACCAAACACCCAGGTAA	0.428000													3	21					0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10084485	10084485	+	Splice_Site	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:10084485C>T	ENST00000264828.3	-	49	3644	c.3559G>A	c.(3559-3561)Ggc>Agc	p.G1187S		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1187	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CCTGGAGTGCCCTGGAGAGAC	0.592000													93	39					0	0	1	0	0
MICB	4277	broad.mit.edu	37	6	31473433	31473433	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:31473433A>G	ENST00000252229.6	+	2	189	c.110A>G	c.(109-111)cAg>cGg	p.Q37R	MICB_ENST00000538442.1_Missense_Mutation_p.Q5R|MICB_ENST00000399150.3_Missense_Mutation_p.Q37R	NM_005931.3	NP_005922.2	Q29980	MICB_HUMAN	MHC class I polypeptide-related sequence B	37					antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						GTGCTGTCCCAGGATGGATCT	0.522000													3	124					0	0	1	0	0
C12orf4	57102	broad.mit.edu	37	12	4599748	4599748	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:4599748C>T	ENST00000261250.3	-	13	1593	c.1506G>A	c.(1504-1506)atG>atA	p.M502I	C12orf4_ENST00000545746.1_Missense_Mutation_p.M502I	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	502										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		CCATTTCCATCATGAAACCTA	0.388000													31	37					0	0	1	0	0
DROSHA	29102	broad.mit.edu	37	5	31431748	31431748	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:31431748C>T	ENST00000511367.2	-	25	3324	c.3080G>A	c.(3079-3081)gGg>gAg	p.G1027E	DROSHA_ENST00000442743.1_Missense_Mutation_p.G990E|DROSHA_ENST00000513349.1_Missense_Mutation_p.G990E|DROSHA_ENST00000344624.3_Missense_Mutation_p.G1027E	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	1027	Necessary for interaction with DGCR8 and pri-miRNA processing activity.|RNase III 1.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						AAGGTCAGGCCCGTGAGCATA	0.373000													30	48					0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17073279	17073279	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr22:17073279G>A	ENST00000359963.3	-	1	421	c.162C>T	c.(160-162)caC>caT	p.H54H		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	54					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	p.H54Q(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TCTGCCGGCCGTGGGGGCCAT	0.637000													3	94					0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157222596	157222596	+	Silent	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:157222596G>T	ENST00000346085.5	+	4	1864	c.1863G>T	c.(1861-1863)ccG>ccT	p.P621P	ARID1B_ENST00000275248.4_Silent_p.P550P|ARID1B_ENST00000367148.1_Silent_p.P608P|ARID1B_ENST00000350026.5_Silent_p.P608P	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	608	Gln-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CGCAGCCCCCGCACCTCCCAC	0.617000													12	25					3.52763e-06	3.64908e-06	1	1	0
SLC6A10P	386757	broad.mit.edu	37	16	32893922	32893922	+	RNA	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr16:32893922T>A	ENST00000330048.5	-	0	1335					NR_003083.2																						AGGCTGGCACTGGCACAGTCT	0.607000													87	185					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144864173	144864173	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:144864173G>A	ENST00000369359.4	-	39	6368	c.6330C>T	c.(6328-6330)ttC>ttT	p.F2110F	PDE4DIP_ENST00000313382.9_Silent_p.F1868F|PDE4DIP_ENST00000369356.4_Silent_p.F1974F|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000530740.1_Silent_p.F2059F|PDE4DIP_ENST00000369354.3_Silent_p.F1974F|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1974					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GTTCCTCCCTGAAATGCAAGA	0.488000			T	PDGFRB	MPD								8	321					0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28926104	28926104	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr18:28926104G>C	ENST00000257192.4	+	14	2255	c.2043G>C	c.(2041-2043)atG>atC	p.M681I	RP11-534N16.1_ENST00000578119.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG1_ENST00000462981.2_Missense_Mutation_p.M40I	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	681					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GAAATTCTATGAGGGAATGTA	0.418000													40	44					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77626765	77626765	+	Splice_Site	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:77626765G>T	ENST00000461745.1	+	15	3228	c.2328G>T	c.(2326-2328)aaG>aaT	p.K776N	ROBO2_ENST00000487694.3_Splice_Site_p.K792N|ROBO2_ENST00000332191.8_Splice_Site_p.K776N	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	776	Fibronectin type-III 3.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AAGAATACAAGGTAGGACCCG	0.443000													25	14					6.00712e-18	6.78754e-18	1	1	0
CLHC1	130162	broad.mit.edu	37	2	55444968	55444968	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:55444968C>G	ENST00000401408.1	-	4	689	c.344G>C	c.(343-345)aGa>aCa	p.R115T	CLHC1_ENST00000407122.1_Missense_Mutation_p.R115T|CLHC1_ENST00000406437.2_Intron|CLHC1_ENST00000406076.1_5'UTR|CLHC1_ENST00000494539.1_Intron	NM_152385.2	NP_689598.2			clathrin heavy chain linker domain containing 1																		TTGGATTGTTCTTTTCCTGTA	0.358000													4	15					0	0	1	0	0
FGR	2268	broad.mit.edu	37	1	27949568	27949568	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:27949568T>C	ENST00000374005.3	-	4	602	c.314A>G	c.(313-315)cAc>cGc	p.H105R	FGR_ENST00000545953.1_Missense_Mutation_p.H105R|FGR_ENST00000399173.1_Missense_Mutation_p.H105R|FGR_ENST00000374004.1_Missense_Mutation_p.H105R	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	feline Gardner-Rasheed sarcoma viral oncogene homolog	105	SH3.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GTTCAGGATGTGGAACTTCTC	0.552000													38	0					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49689154	49689154	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:49689154C>T	ENST00000296452.4	+	5	2279	c.2165C>T	c.(2164-2166)tCc>tTc	p.S722F		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	722					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCCAGCCCCTCCGAGATCCAC	0.647000													62	30					0	0	1	0	0
HSPA12B	116835	broad.mit.edu	37	20	3730479	3730479	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr20:3730479C>T	ENST00000254963.2	+	10	1165	c.1020C>T	c.(1018-1020)ctC>ctT	p.L340L	HSPA12B_ENST00000542646.1_Silent_p.L174L	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	340							ATP binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						ATGGCACCCTCAAGGAGCTCT	0.746000													4	13					0	0	1	0	0
LDHC	3948	broad.mit.edu	37	11	18434294	18434294	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:18434294G>A	ENST00000541669.1	+	2	141	c.30G>A	c.(28-30)gaG>gaA	p.E10E	LDHC_ENST00000535809.1_Silent_p.E10E|LDHC_ENST00000546146.1_Silent_p.E10E|LDHC_ENST00000536880.1_Silent_p.E10E|LDHC_ENST00000544105.1_Silent_p.E10E|LDHC_ENST00000537486.1_Silent_p.E10E|LDHC_ENST00000280704.4_Silent_p.E10E			P07864	LDHC_HUMAN	lactate dehydrogenase C	10					glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					NADH(DB00157)	AGCTAATTGAGAAGCTAATTG	0.393000													12	52					0	0	1	0	0
OR8B8	26493	broad.mit.edu	37	11	124310918	124310918	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:124310918C>A	ENST00000328064.2	-	1	136	c.64G>T	c.(64-66)Gga>Tga	p.G22*		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		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)		ATCTGGACTCCCGGTTGGTCA	0.502000													20	42					6.55177e-30	7.66499e-30	1	1	0
ZNF354A	6940	broad.mit.edu	37	5	178139071	178139071	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:178139071T>A	ENST00000335815.2	-	5	2005	c.1808A>T	c.(1807-1809)gAg>gTg	p.E603V		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	603					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|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)	all cancers(165;0.185)		CTAGGGGTCCTCTTCGATATG	0.348000													22	15					0	0	1	0	0
ABTB1	80325	broad.mit.edu	37	3	127391916	127391916	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:127391916C>T	ENST00000232744.8	+	1	134	c.48C>T	c.(46-48)ggC>ggT	p.G16G	ABTB1_ENST00000453791.2_5'UTR|ABTB1_ENST00000466612.1_3'UTR|ABTB1_ENST00000393363.3_5'UTR			Q969K4	ABTB1_HUMAN	ankyrin repeat and BTB (POZ) domain containing 1	16						cytoplasm|nucleolus|plasma membrane	translation elongation factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						GGGATGTGGGCCGAGTGCGGT	0.746000													9	19					0	0	1	0	0
MTR	4548	broad.mit.edu	37	1	237016251	237016251	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:237016251G>A	ENST00000366577.5	+	18	2210	c.1816G>A	c.(1816-1818)Ggc>Agc	p.G606S	MTR_ENST00000535889.1_Missense_Mutation_p.G606S	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	606	Pterin-binding.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	CCCTTAGTCTGGCATGGACAT	0.393000													18	67					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23527693	23527693	+	Silent	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:23527693T>C	ENST00000296682.3	+	11	2678	c.2496T>C	c.(2494-2496)taT>taC	p.Y832Y		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	832					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.Y832Y(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGAAGCCCTATGTCTGCAGGG	0.587000										HNSCC(3;0.000094)			6	161					0	0	1	0	0
NLGN1	22871	broad.mit.edu	37	3	173998359	173998359	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:173998359C>A	ENST00000457714.1	+	7	2167	c.1738C>A	c.(1738-1740)Cag>Aag	p.Q580K	NLGN1_ENST00000545397.1_Missense_Mutation_p.Q580K|NLGN1_ENST00000361589.4_Missense_Mutation_p.Q580K|NLGN1_ENST00000401917.3_Missense_Mutation_p.Q620K	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	597					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CAGATATTCCCAGAAAGACCA	0.403000													41	48					1.30916e-28	1.52352e-28	1	1	0
TRPA1	8989	broad.mit.edu	37	8	72981302	72981302	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr8:72981302G>A	ENST00000262209.4	-	3	607	c.400C>T	c.(400-402)Cct>Tct	p.P134S		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	134						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)	ATGTGGAGAGGAGCCATCATG	0.512000													110	190					0	0	1	0	0
MXD3	83463	broad.mit.edu	37	5	176734587	176734587	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:176734587C>G	ENST00000423571.2	-	5	764	c.700G>C	c.(700-702)Gtt>Ctt	p.V234L	MXD3_ENST00000427908.2_Intron|MXD3_ENST00000439742.2_3'UTR|MXD3_ENST00000513063.1_3'UTR			Q9BW11	MAD3_HUMAN	MAX dimerization protein 3	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding					all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGTGAGGAACATCATAGCCA	0.687000													7	13					0	0	1	0	0
SRGAP2	23380	broad.mit.edu	37	1	206566186	206566186	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:206566186C>T	ENST00000414007.1	+	2	207	c.207C>T	c.(205-207)tcC>tcT	p.S69S	SRGAP2_ENST00000419187.2_5'UTR			O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	209	FCH.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					CCCCTGACTCCACGGCCAACG	0.532000													3	39					0	0	1	0	0
BANP	54971	broad.mit.edu	37	16	88105749	88105749	+	Silent	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr16:88105749C>G	ENST00000393207.1	+	13	1640	c.1419C>G	c.(1417-1419)ctC>ctG	p.L473L	BANP_ENST00000481948.1_3'UTR|BANP_ENST00000355022.4_Silent_p.L423L|BANP_ENST00000479780.2_Silent_p.L420L|BANP_ENST00000393208.2_Silent_p.L445L|BANP_ENST00000355163.5_Silent_p.L451L|BANP_ENST00000286122.7_Silent_p.L473L|BANP_ENST00000538234.1_Silent_p.L462L	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	473					cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		GGTCGCCACTCCAGGGCAGCG	0.716000													17	1					0	0	1	0	0
MICAL2	9645	broad.mit.edu	37	11	12247859	12247859	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:12247859G>A	ENST00000256194.4	+	14	2118	c.1830G>A	c.(1828-1830)atG>atA	p.M610I	MICAL2_ENST00000379612.3_Missense_Mutation_p.M610I|MICAL2_ENST00000527546.1_Missense_Mutation_p.M610I|MICAL2_ENST00000537344.1_Missense_Mutation_p.M610I|MICAL2_ENST00000342902.5_Missense_Mutation_p.M610I	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	610	CH.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		AGCTCAGCATGGTCATGTACC	0.582000													47	7					0	0	1	0	0
DNA2	1763	broad.mit.edu	37	10	70206090	70206090	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr10:70206090C>T	ENST00000399180.2	-	7	1277	c.1278G>A	c.(1276-1278)caG>caA	p.Q426Q	DNA2_ENST00000399179.2_Silent_p.Q340Q|DNA2_ENST00000358410.3_Silent_p.Q340Q			P51530	DNA2L_HUMAN	DNA replication helicase/nuclease 2	340					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						CAGGGTACATCTGACCAGTCT	0.453000													5	4					0	0	1	0	0
DNAJC22	79962	broad.mit.edu	37	12	49745187	49745187	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:49745187C>A	ENST00000549441.2	+	4	2132	c.928C>A	c.(928-930)Ctg>Atg	p.L310M	DNAJC22_ENST00000395069.3_Missense_Mutation_p.L310M			Q8N4W6	DJC22_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 22	310	J.				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1)	10						AGACCACAACCTGGACCAGAC	0.542000													25	33					1.13719e-10	1.22424e-10	1	1	0
ARAP3	64411	broad.mit.edu	37	5	141035204	141035204	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:141035204G>A	ENST00000239440.4	-	31	4159	c.4094C>T	c.(4093-4095)tCt>tTt	p.S1365F	ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000513878.1_Missense_Mutation_p.S1027F|ARAP3_ENST00000508305.1_Missense_Mutation_p.S1196F	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1365					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CTGATTGGCAGAGAGGAGGGT	0.587000													13	74					0	0	1	0	0
TRMT44	152992	broad.mit.edu	37	4	8469757	8469757	+	Missense_Mutation	SNP	G	G	C	rs35357682	byFrequency	TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:8469757G>C	ENST00000389737.4	+	9	1611	c.1611G>C	c.(1609-1611)tgG>tgC	p.W537C	TRMT44_ENST00000513449.2_Missense_Mutation_p.W296C	NM_152544.2	NP_689757.2			tRNA methyltransferase 44 homolog (S. cerevisiae)																		CACCTGGCTGGGAGCTTTCCC	0.587000													15	10					0	0	1	0	0
ZFP14	57677	broad.mit.edu	37	19	36831467	36831467	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:36831467C>T	ENST00000270001.7	-	5	1376	c.1261G>A	c.(1261-1263)Gag>Aag	p.E421K		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	421					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					TAGGGTCTCTCACCAATATGA	0.403000													27	105					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128496641	128496641	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:128496641G>A	ENST00000325888.8	+	44	7582	c.7321G>A	c.(7321-7323)Gat>Aat	p.D2441N	FLNC_ENST00000346177.6_Missense_Mutation_p.D2408N|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2441	Interaction with INPPL1.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GGGCGTGATTGATGCCCGGGT	0.662000													15	77					0	0	1	0	0
PCDHGA11	56105	broad.mit.edu	37	5	140800805	140800805	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:140800805G>A	ENST00000398587.2	+	1	44	c.11G>A	c.(10-12)cGg>cAg	p.R4Q	PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.R4Q|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1														breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGGCGAATCGGCTACAGCGC	0.592000													5	15					0	0	1	0	0
APOBEC1	339	broad.mit.edu	37	12	7805283	7805283	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:7805283T>C	ENST00000229304.4	-	3	213	c.193A>G	c.(193-195)Aat>Gat	p.N65D		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	65					cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						tttataaaattaaCTTCCACG	0.473000													2	10					0	0	1	0	0
GINS3	64785	broad.mit.edu	37	16	58437029	58437029	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr16:58437029C>A	ENST00000318129.5	+	2	422	c.214C>A	c.(214-216)Ctg>Atg	p.L72M	GINS3_ENST00000328514.7_Intron|GINS3_ENST00000426538.2_Missense_Mutation_p.L111M	NM_022770.3	NP_073607.2	Q9BRX5	PSF3_HUMAN	GINS complex subunit 3 (Psf3 homolog)	72					DNA replication	nucleus				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	7						ACCCTTGTGGCTGGCAAAAGG	0.448000													3	46					1	1	1	1	0
TIAM1	7074	broad.mit.edu	37	21	32617923	32617923	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr21:32617923T>A	ENST00000286827.3	-	7	1936	c.1465A>T	c.(1465-1467)Agc>Tgc	p.S489C	TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Missense_Mutation_p.S489C	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	489	PH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TTGGGGATGCTGTTGTGGTCT	0.547000													18	3					0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	153998045	153998045	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:153998045G>A	ENST00000368559.3	-	30	4166	c.4095C>T	c.(4093-4095)gtC>gtT	p.V1365V	NUP210L_ENST00000271854.3_Silent_p.V1365V|NUP210L_ENST00000368553.1_Silent_p.V298V	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1365						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TTGTTTGGTTGACTCCAAAAG	0.413000													113	50					0	0	1	0	0
KDELR2	11014	broad.mit.edu	37	7	6502667	6502667	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:6502667G>C	ENST00000490996.1	-	4	490	c.491C>G	c.(490-492)tCt>tGt	p.S164C	KDELR2_ENST00000463747.1_Intron|KDELR2_ENST00000258739.4_3'UTR|DAGLB_ENST00000436575.1_Intron	NM_001100603.1	NP_001094073.1	P33947	ERD22_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2	0					intracellular protein transport|protein retention in ER lumen|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	KDEL sequence binding|protein binding|receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		TGCAACAAAAGAGTTAAGTTT	0.408000													28	5					0	0	1	0	0
SPTLC3	55304	broad.mit.edu	37	20	13052966	13052966	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr20:13052966C>G	ENST00000399002.2	+	3	640	c.366C>G	c.(364-366)atC>atG	p.I122M	SPTLC3_ENST00000378194.4_Missense_Mutation_p.I122M	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	122					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	ACATGCGAATCAGAGACAACT	0.433000													34	83					0	0	1	0	0
TSHZ1	10194	broad.mit.edu	37	18	72999303	72999303	+	Silent	SNP	G	G	A	rs141313878	byFrequency	TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr18:72999303G>A	ENST00000322038.5	+	2	2390	c.1806G>A	c.(1804-1806)acG>acA	p.T602T	TSHZ1_ENST00000580243.1_Silent_p.T647T	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	647						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		AGAAGGTCACGGGCAAGGTCA	0.602000													22	18					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49420438	49420438	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:49420438C>T	ENST00000301067.7	-	48	15310	c.15311G>A	c.(15310-15312)tGc>tAc	p.C5104Y		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CATGCGATTGCAGCTGCTGGT	0.562000													32	32					0	0	1	0	0
ZNF558	148156	broad.mit.edu	37	19	8922561	8922561	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:8922561T>G	ENST00000601372.1	-	10	1316	c.605A>C	c.(604-606)cAt>cCt	p.H202P	ZNF558_ENST00000301475.1_Missense_Mutation_p.H202P|ZNF558_ENST00000444186.2_Missense_Mutation_p.H131P			Q96NG5	ZN558_HUMAN	zinc finger protein 558	202					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						CTCCCCATTATGGATTCTCTT	0.413000													14	63					0	0	1	0	0
ZNF528	84436	broad.mit.edu	37	19	52918824	52918824	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:52918824C>T	ENST00000360465.3	+	7	1145	c.719C>T	c.(718-720)cCt>cTt	p.P240L	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	240					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		GGAGAGAAGCCTTACAAATGT	0.388000													9	55					0	0	1	0	0
ADGRG1	9289	broad.mit.edu	37	16	57685294	57685294	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr16:57685294G>T	ENST00000562631.1	+	3	779	c.247G>T	c.(247-249)Gac>Tac	p.D83Y	GPR56_ENST00000379694.4_Intron|GPR56_ENST00000544297.1_5'UTR|GPR56_ENST00000568908.1_Missense_Mutation_p.D83Y|GPR56_ENST00000538815.1_Missense_Mutation_p.D83Y|GPR56_ENST00000388813.5_Missense_Mutation_p.D83Y|GPR56_ENST00000564912.1_3'UTR|GPR56_ENST00000379696.3_Missense_Mutation_p.D83Y|GPR56_ENST00000567835.1_Missense_Mutation_p.D83Y|GPR56_ENST00000562558.1_Missense_Mutation_p.D83Y|GPR56_ENST00000540164.2_Missense_Mutation_p.D83Y|GPR56_ENST00000568909.1_Missense_Mutation_p.D83Y|GPR56_ENST00000456916.1_Missense_Mutation_p.D83Y|GPR56_ENST00000388812.4_Missense_Mutation_p.D83Y			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	83					brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						ATCCTTCCCTGACCCCAGGGG	0.577000													32	4					1.52319e-26	1.76327e-26	1	1	0
COX10	1352	broad.mit.edu	37	17	13977769	13977769	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:13977769G>A	ENST00000261643.3	+	2	250	c.173G>A	c.(172-174)cGc>cAc	p.R58H	COX10_ENST00000429152.2_Missense_Mutation_p.R58H|COX10_ENST00000536205.1_5'UTR|COX10_ENST00000537334.1_5'UTR	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	58					heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		TTCCTCAAACGCATGGTATGT	0.348000													77	110					0	0	1	0	0
ALX1	8092	broad.mit.edu	37	12	85695132	85695132	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:85695132C>T	ENST00000316824.3	+	4	1015	c.860C>T	c.(859-861)aCt>aTt	p.T287I		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	287					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		TCTCTTCTTACTGGGGCAACC	0.493000													18	51					0	0	1	0	0
PAIP1	10605	broad.mit.edu	37	5	43547879	43547879	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:43547879A>T	ENST00000306846.3	-	3	804	c.572T>A	c.(571-573)gTt>gAt	p.V191D	PAIP1_ENST00000436644.2_Missense_Mutation_p.V112D|PAIP1_ENST00000514514.1_Missense_Mutation_p.V112D|PAIP1_ENST00000338972.4_Missense_Mutation_p.V79D	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	191	MIF4G.				mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					ATCTGTTGTAACACAACCATT	0.408000													56	63					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39265823	39265823	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr13:39265823G>C	ENST00000280481.7	+	1	4558	c.4342G>C	c.(4342-4344)Gac>Cac	p.D1448H		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1448					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)		AAGCACTAGTGACTTGAACAG	0.488000													31	30					0	0	1	0	0
IGHG1	3500	broad.mit.edu	37	14	106209264	106209264	+	RNA	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:106209264C>T	ENST00000390548.2	-	0	144																											GTGTGCACGCCGCTGGTCAGG	0.647000													5	6					0	0	1	0	0
CCDC37	348807	broad.mit.edu	37	3	126142417	126142417	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:126142417C>T	ENST00000393425.1	+	13	1318	c.1219C>T	c.(1219-1221)Cag>Tag	p.Q407*	CCDC37_ENST00000505024.1_Nonsense_Mutation_p.Q407*|CCDC37_ENST00000352312.1_Nonsense_Mutation_p.Q406*			Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	406										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		GTCGCTGATCCAGAACAGCCA	0.597000													33	39					0	0	1	0	0
PLS3	5358	broad.mit.edu	37	X	114871237	114871237	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chrX:114871237C>G	ENST00000420625.2	+	8	972	c.838C>G	c.(838-840)Cat>Gat	p.H280D	PLS3_ENST00000537301.1_Missense_Mutation_p.H258D|PLS3_ENST00000355899.3_Missense_Mutation_p.H280D|PLS3_ENST00000539310.1_Missense_Mutation_p.H235D|PLS3_ENST00000289290.3_Missense_Mutation_p.H235D	NM_001136025.3|NM_001172335.1|NM_001282338.1	NP_001129497.1|NP_001165806.1|NP_001269267.1	P13797	PLST_HUMAN	plastin 3	280	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						GGCAAACTTTCATTTGGAAAA	0.408000													17	43					0	0	1	0	0
MAPT	4137	broad.mit.edu	37	17	44067379	44067379	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:44067379A>G	ENST00000344290.5	+	8	1640	c.1318A>G	c.(1318-1320)Aaa>Gaa	p.K440E	MAPT_ENST00000262410.5_Missense_Mutation_p.K440E|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000415613.2_Missense_Mutation_p.K440E|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000571987.1_Missense_Mutation_p.K440E|MAPT_ENST00000347967.5_Intron	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau	440					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				TTCCTCTCCTAAATACGTCTC	0.537000													107	117					0	0	1	0	0
TMTC4	84899	broad.mit.edu	37	13	101315400	101315400	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr13:101315400C>A	ENST00000342624.5	-	5	628	c.370G>T	c.(370-372)Gtg>Ttg	p.V124L	TMTC4_ENST00000328767.5_Intron|TMTC4_ENST00000376234.3_Missense_Mutation_p.V105L	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	105						integral to membrane	binding			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGAAAGCCCACGGGGTGGAAG	0.562000													37	50					4.10826e-27	4.76414e-27	1	1	0
PYGO2	90780	broad.mit.edu	37	1	154932130	154932130	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:154932130G>A	ENST00000368457.2	-	3	517	c.346C>T	c.(346-348)Cca>Tca	p.P116S	PYGO2_ENST00000483463.1_5'UTR|PYGO2_ENST00000368456.1_Missense_Mutation_p.P79S	NM_138300.3	NP_612157.1	Q9BRQ0	PYGO2_HUMAN	pygopus family PHD finger 2	116	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1)	10	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CTGTAGCCTGGGGGTACCTGG	0.682000													12	2					0	0	1	0	0
ACVRL1	94	broad.mit.edu	37	12	52312784	52312784	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:52312784A>G	ENST00000550683.1	+	8	1405	c.1304A>G	c.(1303-1305)tAt>tGt	p.Y435C	ACVRL1_ENST00000419526.2_Missense_Mutation_p.Y247C|ACVRL1_ENST00000388922.4_Missense_Mutation_p.Y421C	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	421	Protein kinase.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	GTGGAGGACTATAGACCACCC	0.532000													52	54					0	0	1	0	0
GJD2	57369	broad.mit.edu	37	15	35045148	35045148	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr15:35045148G>A	ENST00000290374.4	-	2	973	c.497C>T	c.(496-498)cCa>cTa	p.P166L		NM_020660.2	NP_065711.1	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	166					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)		TAAACAATCTGGCTCTGTCTC	0.507000													61	122					0	0	1	0	0
KCNK9	51305	broad.mit.edu	37	8	140715046	140715046	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr8:140715046G>A	ENST00000520439.1	-	1	253	c.190C>T	c.(190-192)Ctg>Ttg	p.L64L	KCNK9_ENST00000303015.1_Silent_p.L64L	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	64						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			AGGATCACCAGCTCCAGCTGC	0.597000													21	27					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175086217	175086217	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:175086217G>A	ENST00000239462.4	+	10	2375	c.2262G>A	c.(2260-2262)ccG>ccA	p.P754P		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	754	Fibronectin type-III 6.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				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)		GGGAGGTTCCGGTGGGGAAGG	0.637000													5	146					0	0	1	0	0
FAP	2191	broad.mit.edu	37	2	163051256	163051256	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:163051256G>A	ENST00000188790.4	-	17	1612	c.1405C>T	c.(1405-1407)Cca>Tca	p.P469S	FAP_ENST00000443424.1_Missense_Mutation_p.P444S	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha	469					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						GGGATGCCTGGGCCTGTGGGC	0.438000													14	49					0	0	1	0	0
AHCYL2	23382	broad.mit.edu	37	7	129040163	129040163	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:129040163G>C	ENST00000325006.3	+	6	910	c.856G>C	c.(856-858)Gaa>Caa	p.E286Q	AHCYL2_ENST00000531335.2_Missense_Mutation_p.E205Q|AHCYL2_ENST00000474594.1_Missense_Mutation_p.E183Q|AHCYL2_ENST00000490911.1_Missense_Mutation_p.E183Q|AHCYL2_ENST00000446212.1_Missense_Mutation_p.E184Q|AHCYL2_ENST00000446544.2_Missense_Mutation_p.E285Q	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	286					one-carbon metabolic process		adenosylhomocysteinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						GGGAGAGTCAGAAGATGACTT	0.448000													19	43					0	0	1	0	0
KRTAP22-1	337979	broad.mit.edu	37	21	31973522	31973522	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr21:31973522G>A	ENST00000334680.2	+	1	109	c.83G>A	c.(82-84)gGc>gAc	p.G28D		NM_181620.1	NP_853651.1	Q3MIV0	KR221_HUMAN	keratin associated protein 22-1	28						intermediate filament				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	8						GGTCTTAGCGGCTATGGCTAT	0.488000													111	9					0	0	1	0	0
SLAMF6	114836	broad.mit.edu	37	1	160466111	160466111	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:160466111G>A	ENST00000368059.3	-	2	191	c.122C>T	c.(121-123)cCc>cTc	p.P41L	SLAMF6_ENST00000368057.3_Missense_Mutation_p.P41L|SLAMF6_ENST00000368055.1_Intron	NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4	NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1	Q96DU3	SLAF6_HUMAN	SLAM family member 6	41						integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			AAACTCCAGGGGAAGAGTTAC	0.438000													47	412					0	0	1	0	0
AMOTL1	154810	broad.mit.edu	37	11	94597966	94597966	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:94597966C>T	ENST00000433060.2	+	10	2343	c.2202C>T	c.(2200-2202)atC>atT	p.I734I	AMOTL1_ENST00000317829.8_Silent_p.I684I|AMOTL1_ENST00000317837.9_Intron	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	734						cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				AGGCCCACATCTGGCAAGAGG	0.557000													30	134					0	0	1	0	0
CNGA3	1261	broad.mit.edu	37	2	98996644	98996644	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:98996644G>A	ENST00000393504.1	+	4	639	c.222G>A	c.(220-222)tcG>tcA	p.S74S	CNGA3_ENST00000436404.2_Silent_p.S74S|CNGA3_ENST00000272602.2_Silent_p.S74S|CNGA3_ENST00000409937.1_Silent_p.S78S	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	74					signal transduction|visual perception	integral to membrane	cGMP binding	p.S74S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						CCAGGCTGTCGCGCCTCATCT	0.602000													14	20					0	0	1	0	0
DAW1	164781	broad.mit.edu	37	2	228758558	228758558	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:228758558C>T	ENST00000373666.2	+	5	1001	c.365C>T	c.(364-366)gCg>gTg	p.A122V	DAW1_ENST00000472604.1_3'UTR|DAW1_ENST00000545118.1_Missense_Mutation_p.A107V|DAW1_ENST00000309931.2_Missense_Mutation_p.A122V					dynein assembly factor with WDR repeat domains 1																		TGGGACACTGCGTCTGGAGAG	0.468000													7	2					0	0	1	0	0
PDCD4	27250	broad.mit.edu	37	10	112650398	112650398	+	Silent	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr10:112650398G>C	ENST00000393104.2	+	9	1287	c.927G>C	c.(925-927)ggG>ggC	p.G309G	PDCD4_ENST00000481353.1_3'UTR|PDCD4_ENST00000280154.7_Silent_p.G320G	NM_145341.3	NP_663314.1	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)	320					apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		CTGGAGGTGGGCAGCAATCTG	0.398000													15	25					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62800644	62800644	+	Silent	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:62800644G>T	ENST00000512091.2	+	13	2742	c.1995G>T	c.(1993-1995)gcG>gcT	p.A665A	LPHN3_ENST00000507625.1_Silent_p.A733A|LPHN3_ENST00000511324.1_Silent_p.A733A|LPHN3_ENST00000508946.1_Silent_p.A665A|LPHN3_ENST00000514591.1_Silent_p.A665A|LPHN3_ENST00000508078.1_3'UTR|LPHN3_ENST00000509896.1_Silent_p.A733A|LPHN3_ENST00000514157.1_Silent_p.A665A|LPHN3_ENST00000506700.1_Silent_p.A665A|LPHN3_ENST00000506720.1_Silent_p.A733A|LPHN3_ENST00000508693.1_Silent_p.A733A|LPHN3_ENST00000514996.1_Silent_p.A665A|LPHN3_ENST00000504896.1_Silent_p.A665A|LPHN3_ENST00000507164.1_Silent_p.A733A|LPHN3_ENST00000545650.1_Silent_p.A665A|LPHN3_ENST00000506746.1_Silent_p.A733A			Q9HAR2	LPHN3_HUMAN	latrophilin 3						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						AGCTGCGTGCGGCCACCATGT	0.463000													7	27					5.4927e-09	5.81839e-09	1	1	0
CD40	958	broad.mit.edu	37	20	44751393	44751393	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr20:44751393T>C	ENST00000372285.3	+	4	473	c.401T>C	c.(400-402)aTt>aCt	p.I134T	CD40_ENST00000372276.3_Missense_Mutation_p.I134T|CD40_ENST00000489304.1_3'UTR	NM_001250.4	NP_001241.1	P25942	TNR5_HUMAN	CD40 molecule, TNF receptor superfamily member 5	134					B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		Myeloproliferative disorder(115;0.0122)			Simvastatin(DB00641)	GTCAAGCAGATTGGTAAGTGG	0.597000									Immune Deficiency with Hyper-IgM				57	22					0	0	1	0	0
PLD1	5337	broad.mit.edu	37	3	171427487	171427487	+	Silent	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:171427487T>C	ENST00000356327.5	-	10	994	c.924A>G	c.(922-924)ttA>ttG	p.L308L	PLD1_ENST00000340989.4_Silent_p.L308L|PLD1_ENST00000351298.4_Silent_p.L308L|PLD1_ENST00000342215.6_Silent_p.L308L	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	308	PH.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TGTTGCATTTTAAAATAAGTG	0.373000													39	39					0	0	1	0	0
NPR2	4882	broad.mit.edu	37	9	35792645	35792645	+	Silent	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr9:35792645A>G	ENST00000342694.2	+	1	495	c.240A>G	c.(238-240)gcA>gcG	p.A80A		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	80					intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	AGTACCTGGCACCGCTGAGCG	0.657000													16	105					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179621183	179621183	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:179621183C>T	ENST00000589042.1	-	46	11244	c.11020G>A	c.(11020-11022)Ggt>Agt	p.G3674S	TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Intron|TTN_ENST00000342175.6_Missense_Mutation_p.G3503S|TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3359	Ig-like 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)			GCCGTGTCACCGCACTTTACA	0.453000													22	8					0	0	1	0	0
ZNF644	84146	broad.mit.edu	37	1	91404364	91404364	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:91404364C>G	ENST00000370440.1	-	3	2764	c.2547G>C	c.(2545-2547)aaG>aaC	p.K849N	ZNF644_ENST00000337393.5_Missense_Mutation_p.K849N|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000361321.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	849					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		AACTATCTTTCTTTTCAGCAG	0.358000													10	3					0	0	1	0	0
ZNF641	121274	broad.mit.edu	37	12	48739259	48739259	+	Splice_Site	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:48739259T>A	ENST00000544117.2	-	4	1027		c.e4-2		ZNF641_ENST00000547026.1_Splice_Site|ZNF641_ENST00000301042.3_Splice_Site|ZNF641_ENST00000448928.3_Intron			Q96N77	ZN641_HUMAN	zinc finger protein 641						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						TACCAGGCCCTGAAACAAAAT	0.448000													33	34					0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17697690	17697690	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:17697690T>G	ENST00000353383.1	+	3	1897	c.1428T>G	c.(1426-1428)caT>caG	p.H476Q	RAI1_ENST00000261641.6_Missense_Mutation_p.H476Q	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	476						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CAGAGCAGCATAAAAGCCAGC	0.627000													9	27					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13325352	13325352	+	Silent	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:13325352G>T	ENST00000360228.5	-	39	5801	c.5802C>A	c.(5800-5802)tcC>tcA	p.S1934S	CACNA1A_ENST00000573710.2_Silent_p.S1935S	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1935					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GCGTCTTCTGGGACAGATTGG	0.582000													19	13					7.41945e-09	7.82178e-09	1	1	0
ATP6V0A1	535	broad.mit.edu	37	17	40635081	40635081	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:40635081C>A	ENST00000343619.4	+	9	865	c.742C>A	c.(742-744)Cct>Act	p.P248T	ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.P255T|ATP6V0A1_ENST00000544137.1_Intron|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.P205T|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.P248T|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.P248T|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.P205T	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	248					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		CTATCCCTGTCCTGAGACACC	0.408000													16	50					3.51602e-12	3.82251e-12	1	1	0
AREL1	9870	broad.mit.edu	37	14	75142403	75142403	+	Splice_Site	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:75142403T>A	ENST00000356357.4	-	8	1594	c.1079A>T	c.(1078-1080)aAg>aTg	p.K360M	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1			apoptosis resistant E3 ubiquitin protein ligase 1																		AGGTCCAACCTTTGGTGACAC	0.478000													356	202					0	0	1	0	0
PPP1R16A	84988	broad.mit.edu	37	8	145727093	145727093	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr8:145727093C>T	ENST00000292539.4	+	11	2311	c.1394C>T	c.(1393-1395)gCt>gTt	p.A465V	PPP1R16A_ENST00000435887.1_Missense_Mutation_p.A465V			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	465						plasma membrane	protein binding			NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	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)			CAGCGAGCTGCTGCCAAGCTG	0.692000													5	7					0	0	1	0	0
PCDHB10	56126	broad.mit.edu	37	5	140573673	140573673	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:140573673C>T	ENST00000239446.4	+	1	1732	c.1548C>T	c.(1546-1548)ctC>ctT	p.L516L		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		516	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.L516L(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTTCGCCCTCAGGTCGCTGG	0.706000													76	224					0	0	1	0	0
ZBED1	9189	broad.mit.edu	37	X	2407722	2407722	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chrX:2407722C>T	ENST00000381223.4	-	2	1242	c.1039G>A	c.(1039-1041)Gtg>Atg	p.V347M	ZBED1_ENST00000381218.3_Missense_Mutation_p.V347M|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Missense_Mutation_p.V347M	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	347						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		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)				CGGTTGCTCACCAGCATGCAG	0.617000													20	13					0	0	1	0	0
NTNG1	22854	broad.mit.edu	37	1	107979293	107979293	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:107979293A>T	ENST00000370068.1	+	7	2108	c.1262A>T	c.(1261-1263)tAt>tTt	p.Y421F	NTNG1_ENST00000542803.1_Missense_Mutation_p.Y421F|NTNG1_ENST00000370065.1_Intron|NTNG1_ENST00000370066.1_Intron|NTNG1_ENST00000370071.2_Intron|NTNG1_ENST00000370061.3_Missense_Mutation_p.Y387F|NTNG1_ENST00000370072.3_Intron|NTNG1_ENST00000370074.4_Intron|NTNG1_ENST00000370067.1_Intron|NTNG1_ENST00000370073.2_Missense_Mutation_p.Y421F|NTNG1_ENST00000370070.2_Intron			Q9Y2I2	NTNG1_HUMAN	netrin G1	421	Laminin EGF-like 3.				axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		ACAGAGTGTTATTGTAACCCT	0.453000													15	18					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179431369	179431369	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:179431369A>G	ENST00000589042.1	-	326	79714	c.79490T>C	c.(79489-79491)gTa>gCa	p.V26497A	TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V23929A|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V17624A|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V24856A|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V17557A|TTN_ENST00000460472.2_Missense_Mutation_p.V17432A|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24856	Fibronectin type-III 92.						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)			AGTGGTGTCTACAATGTGTGC	0.443000													57	165					0	0	1	0	0
FAM179B	23116	broad.mit.edu	37	14	45512888	45512888	+	Splice_Site	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:45512888G>C	ENST00000361462.2	+	12	3995		c.e12-1		FAM179B_ENST00000382233.2_Splice_Site|FAM179B_ENST00000361577.3_Splice_Site			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B								binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						TTTTCTCATAGGGAGAAGAAA	0.348000													7	36					0	0	1	0	0
DNAI1	27019	broad.mit.edu	37	9	34514538	34514538	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr9:34514538C>G	ENST00000242317.4	+	17	1887	c.1716C>G	c.(1714-1716)atC>atG	p.I572M		NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	572					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		ACCACACCATCAAGTGAGGGG	0.597000									Kartagener syndrome				56	42					0	0	1	0	0
KRTAP8-1	337879	broad.mit.edu	37	21	32185477	32185477	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr21:32185477T>G	ENST00000329621.4	-	1	93	c.62A>C	c.(61-63)tAc>tCc	p.Y21S		NM_175857.3	NP_787053.1	Q8IUC2	KRA81_HUMAN	keratin associated protein 8-1	21	12 X 2 AA repeats of G-[YCGS].					intermediate filament				central_nervous_system(1)|large_intestine(1)|lung(4)	6						TCCCAGCGGGTAGCCATAGCT	0.602000													36	2					0	0	1	0	0
FAM188A	80013	broad.mit.edu	37	10	15875631	15875631	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr10:15875631A>G	ENST00000277632.3	-	8	948	c.728T>C	c.(727-729)aTg>aCg	p.M243T	FAM188A_ENST00000477891.1_5'UTR	NM_024948.2	NP_079224.1	Q9H8M7	F188A_HUMAN	family with sequence similarity 188, member A	243					apoptosis	nucleus	calcium ion binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						ATACTTACTCATTCCTGAGCA	0.328000													49	25					0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134851706	134851706	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:134851706C>T	ENST00000398015.3	+	5	1482	c.1112C>T	c.(1111-1113)tCc>tTc	p.S371F	EPHB1_ENST00000493838.1_5'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	371	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CGGAGCTGCTCCCGCTGTGAC	0.612000													29	27					0	0	1	0	0
OR6F1	343169	broad.mit.edu	37	1	247875858	247875858	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:247875858G>T	ENST00000302084.2	-	1	247	c.200C>A	c.(199-201)tCc>tAc	p.S67Y	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	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;0.0168)			CTCCAGGAAGGAGAGGTTGCT	0.478000													8	65					1.76689e-08	1.85974e-08	1	1	0
PCYT2	5833	broad.mit.edu	37	17	79866776	79866776	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:79866776T>G	ENST00000538936.2	-	3	424	c.316A>C	c.(316-318)Aac>Cac	p.N106H	PCYT2_ENST00000571105.1_Missense_Mutation_p.N106H|PCYT2_ENST00000331285.3_Missense_Mutation_p.N28H|PCYT2_ENST00000570388.1_Missense_Mutation_p.N28H|PCYT2_ENST00000570391.1_Missense_Mutation_p.N74H|PCYT2_ENST00000538721.2_Missense_Mutation_p.N106H	NM_001256435.1|NM_002861.3	NP_001243364.1|NP_002852.1	Q99447	PCY2_HUMAN	phosphate cytidylyltransferase 2, ethanolamine	106	Catalytic 1 (Potential).				phospholipid biosynthetic process		ethanolamine-phosphate cytidylyltransferase activity			breast(2)|endometrium(1)|lung(4)|ovary(1)	8	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			AAGTCACAGTTGTATTTGTCC	0.587000													20	44					0	0	1	0	0
DMXL1	1657	broad.mit.edu	37	5	118440935	118440935	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:118440935A>G	ENST00000311085.8	+	4	426	c.346A>G	c.(346-348)Ata>Gta	p.I116V	DMXL1_ENST00000539542.1_Missense_Mutation_p.I116V	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	116										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		AGCACACAATATAACCTGGGA	0.318000													27	23					0	0	1	0	0
RNF165	494470	broad.mit.edu	37	18	44035973	44035973	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr18:44035973G>A	ENST00000269439.7	+	7	904	c.853G>A	c.(853-855)Ggg>Agg	p.G285R	RNF165_ENST00000543885.1_Missense_Mutation_p.G93R	NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN	ring finger protein 165	285							zinc ion binding			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		GAAGGATGAGGGGGAGGAGTC	0.507000													17	20					0	0	1	0	0
HGFAC	3083	broad.mit.edu	37	4	3449273	3449273	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:3449273G>A	ENST00000382774.3	+	11	1525	c.1410G>A	c.(1408-1410)acG>acA	p.T470T	HGFAC_ENST00000511533.1_Silent_p.T477T	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	470	Peptidase S1.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TCAACCGCACGACGGACGTGA	0.662000													218	127					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13753590	13753590	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:13753590G>A	ENST00000265104.4	-	63	10728	c.10624C>T	c.(10624-10626)Ctg>Ttg	p.L3542L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3542					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCATTTAACAGAAGATCACGA	0.373000									Kartagener syndrome				33	68					0	0	1	0	0
MAPK10	5602	broad.mit.edu	37	4	87080492	87080492	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:87080492C>T	ENST00000395169.3	-	4	801	c.81G>A	c.(79-81)caG>caA	p.Q27Q	MAPK10_ENST00000395161.2_Silent_p.Q65Q|MAPK10_ENST00000359221.3_Silent_p.Q65Q|MAPK10_ENST00000361569.2_Silent_p.Q65Q|MAPK10_ENST00000395166.1_Silent_p.Q27Q|MAPK10_ENST00000513839.1_5'UTR|MAPK10_ENST00000449047.2_5'UTR|RP11-778J15.1_ENST00000511917.1_RNA	NM_138980.2|NM_138982.2	NP_620446.1|NP_620448.1	P53779	MK10_HUMAN	mitogen-activated protein kinase 10	65					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|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|JUN kinase activity|MAP kinase kinase activity|protein binding			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		GCTTTAGATTCTGGTAGCGCT	0.443000													11	45					0	0	1	0	0
SYT3	84258	broad.mit.edu	37	19	51140567	51140567	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:51140567C>T	ENST00000338916.4	-	1	735	c.102G>A	c.(100-102)caG>caA	p.Q34Q	SYT3_ENST00000544769.1_Silent_p.Q34Q|SYT3_ENST00000593901.1_Silent_p.Q34Q|SYT3_ENST00000600079.1_Silent_p.Q34Q	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	34						cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		CATTGAACTCCTGGCACCTGT	0.627000													130	3					0	0	1	0	0
RNF217-AS1	7955	broad.mit.edu	37	6	125233454	125233454	+	RNA	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:125233454T>A	ENST00000439075.1	-	0	1291					NR_026876.1																						ATTGTTTAGTTGGTCTTACAA	0.388000													8	15					0	0	1	0	0
OPHN1	4983	broad.mit.edu	37	X	67431998	67431998	+	Silent	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chrX:67431998T>C	ENST00000355520.5	-	8	1295	c.654A>G	c.(652-654)acA>acG	p.T218T	OPHN1_ENST00000540071.1_Silent_p.T218T	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	218					axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						GGAAATCCTGTGTGAGCTCCA	0.403000													13	1					0	0	1	0	0
RNF39	80352	broad.mit.edu	37	6	30043128	30043128	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:30043128C>T	ENST00000244360.6	-	1	536	c.439G>A	c.(439-441)Gtg>Atg	p.V147M	RNF39_ENST00000376751.3_Missense_Mutation_p.V147M	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	147						cytoplasm	zinc ion binding										GCCAGCCGCACATTAGACCTC	0.751000													8	0					0	0	1	0	0
PTAR1	375743	broad.mit.edu	37	9	72333393	72333393	+	Silent	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr9:72333393C>A	ENST00000377200.5	-	5	920	c.918G>T	c.(916-918)cgG>cgT	p.R306R	PTAR1_ENST00000340434.4_Silent_p.R358R			Q7Z6K3	PTAR1_HUMAN	protein prenyltransferase alpha subunit repeat containing 1	358					protein prenylation		protein prenyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)	5						GAACTGGCGTCCGCTTCAGGC	0.522000													19	20					2.39556e-15	2.66129e-15	1	1	0
LRRTM4	80059	broad.mit.edu	37	2	77746266	77746266	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:77746266G>A	ENST00000409088.3	-	3	1143	c.729C>T	c.(727-729)tcC>tcT	p.S243S	LRRTM4_ENST00000409282.1_Silent_p.S244S|LRRTM4_ENST00000409911.1_Silent_p.S244S|LRRTM4_ENST00000409093.1_Silent_p.S243S|LRRTM4_ENST00000409884.1_Silent_p.S243S	NM_001282928.1|NM_024993.4	NP_001269857.1|NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	243						integral to membrane		p.S243S(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		CTTGGCTAATGGAGCGAATCC	0.448000													14	25					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179440159	179440159	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:179440159T>C	ENST00000589042.1	-	326	70924	c.70700A>G	c.(70699-70701)tAt>tGt	p.Y23567C	TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Y20999C|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Y14694C|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.Y21926C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Y14627C|TTN_ENST00000460472.2_Missense_Mutation_p.Y14502C|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21926	Fibronectin type-III 71.						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)			TTCAATCACATAGCCAGTGAT	0.493000													20	40					0	0	1	0	0
PIGO	84720	broad.mit.edu	37	9	35090170	35090170	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr9:35090170C>G	ENST00000378617.3	-	9	3356	c.2962G>C	c.(2962-2964)Gag>Cag	p.E988Q	PIGO_ENST00000361778.2_Missense_Mutation_p.E571Q|PIGO_ENST00000298004.5_Missense_Mutation_p.E571Q|PIGO_ENST00000341666.3_Missense_Mutation_p.E988Q	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	988					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TCCTCTTCCTCCTCGGGTCTG	0.597000													13	53					0	0	1	0	0
PENK	5179	broad.mit.edu	37	8	57358268	57358268	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr8:57358268G>T	ENST00000518770.1	-	3	398	c.245C>A	c.(244-246)cCg>cAg	p.P82Q	PENK_ENST00000314922.3_Intron|PENK_ENST00000523051.1_Intron|PENK_ENST00000451791.2_Intron			P01210	PENK_HUMAN	proenkephalin	0					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			GCTCCGACCCGGTGCGAACCG	0.667000													9	2					0.000274275	0.000280644	1	1	0
PRR23A	729627	broad.mit.edu	37	3	138724664	138724664	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:138724664G>A	ENST00000383163.2	-	1	446	c.447C>T	c.(445-447)atC>atT	p.I149I	MRPS22_ENST00000495075.1_5'UTR	NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN	proline rich 23A	149										endometrium(3)|kidney(1)|lung(7)	11						CCTGGGCGGCGATCTCTGGGA	0.647000													11	24					0	0	1	0	0
PCDHA12	56137	broad.mit.edu	37	5	140255207	140255207	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:140255207G>A	ENST00000398631.2	+	1	150	c.150G>A	c.(148-150)caG>caA	p.Q50Q	PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCATCGCTCAGGACCTGGGGC	0.642000													21	35					0	0	1	0	0
ESRRG	2104	broad.mit.edu	37	1	216737663	216737663	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:216737663C>T	ENST00000391890.3	-	7	1229	c.712G>A	c.(712-714)Gac>Aac	p.D238N	ESRRG_ENST00000366940.2_Missense_Mutation_p.D231N|ESRRG_ENST00000487276.1_Missense_Mutation_p.D231N|ESRRG_ENST00000366937.1_Missense_Mutation_p.D266N|ESRRG_ENST00000463665.1_Missense_Mutation_p.D192N|ESRRG_ENST00000493748.1_Missense_Mutation_p.D231N|ESRRG_ENST00000361395.2_Missense_Mutation_p.D231N|ESRRG_ENST00000361525.3_Missense_Mutation_p.D231N|ESRRG_ENST00000408911.3_Missense_Mutation_p.D254N|ESRRG_ENST00000366938.2_Missense_Mutation_p.D231N|ESRRG_ENST00000493603.1_Missense_Mutation_p.D231N|ESRRG_ENST00000360012.3_Missense_Mutation_p.D231N|ESRRG_ENST00000359162.2_Missense_Mutation_p.D231N	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	254					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	ACAGTAGGGTCAGGCATGGCA	0.493000													37	4					0	0	1	0	0
WDR20	91833	broad.mit.edu	37	14	102675273	102675273	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:102675273G>A	ENST00000335263.5	+	3	846	c.766G>A	c.(766-768)Ggt>Agt	p.G256S	WDR20_ENST00000322340.5_Intron|WDR20_ENST00000556511.2_Missense_Mutation_p.G195S|WDR20_ENST00000424963.2_Missense_Mutation_p.G132S|WDR20_ENST00000454394.2_Missense_Mutation_p.G287S|WDR20_ENST00000556807.1_Missense_Mutation_p.G195S|WDR20_ENST00000545563.1_Missense_Mutation_p.G83S|WDR20_ENST00000342702.3_Missense_Mutation_p.G256S|WDR20_ENST00000499851.2_5'UTR|WDR20_ENST00000299135.6_3'UTR	NM_181291.2	NP_851808.1	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20	256										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						GGAGCTGCACGGTACGATGAA	0.557000													24	1					0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32869562	32869562	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr13:32869562C>G	ENST00000380250.3	+	61	9503	c.9007C>G	c.(9007-9009)Ctt>Gtt	p.L3003V	FRY_ENST00000542859.1_Missense_Mutation_p.L373V|FRY_ENST00000380217.1_Missense_Mutation_p.L185V	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	3003					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CACTACTTTTCTTCCAGACTC	0.567000													27	25					0	0	1	0	0
NFRKB	4798	broad.mit.edu	37	11	129758510	129758510	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:129758510T>A	ENST00000446488.3	-	3	419	c.316A>T	c.(316-318)Att>Ttt	p.I106F	NFRKB_ENST00000524794.1_Missense_Mutation_p.I119F|NFRKB_ENST00000526940.1_Missense_Mutation_p.I106F|NFRKB_ENST00000304521.5_Missense_Mutation_p.I106F|NFRKB_ENST00000524746.1_Missense_Mutation_p.I106F	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	106					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		TTCTGGGCAATGTGCAGAGGG	0.493000													28	46					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48316091	48316091	+	Silent	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:48316091A>G	ENST00000435803.1	+	17	6852	c.6828A>G	c.(6826-6828)ctA>ctG	p.L2276L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2276					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CCCTTTTTCTAAAGGAAGATT	0.343000													12	8					0	0	1	0	0
STRAP	11171	broad.mit.edu	37	12	16036570	16036570	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:16036570G>T	ENST00000419869.2	+	2	521	c.208G>T	c.(208-210)Gat>Tat	p.D70Y	STRAP_ENST00000538352.1_Intron|STRAP_ENST00000025399.6_Missense_Mutation_p.D83Y	NM_007178.3	NP_009109.3	Q9Y3F4	STRAP_HUMAN	serine/threonine kinase receptor associated protein	70					mRNA processing|RNA splicing	cell junction|mitochondrion|spliceosomal complex	identical protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15		Hepatocellular(102;0.121)				ACTGAATAAGGATGCCACCAA	0.458000													25	17					5.91797e-21	6.79128e-21	1	1	0
ITGB1	3688	broad.mit.edu	37	10	33211203	33211203	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr10:33211203C>T	ENST00000396033.2	-	9	1245	c.1110G>A	c.(1108-1110)ttG>ttA	p.L370L	ITGB1_ENST00000423113.1_Silent_p.L370L|ITGB1_ENST00000374956.4_Silent_p.L370L|ITGB1_ENST00000302278.3_Silent_p.L370L	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	370	VWFA.				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				CATCAATGATCAACTGAATTA	0.323000													28	84					0	0	1	0	0
LRRTM4	80059	broad.mit.edu	37	2	77745525	77745525	+	Silent	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:77745525A>T	ENST00000409088.3	-	3	1884	c.1470T>A	c.(1468-1470)ccT>ccA	p.P490P	LRRTM4_ENST00000409282.1_Silent_p.P491P|LRRTM4_ENST00000409911.1_Silent_p.P491P|LRRTM4_ENST00000409093.1_Silent_p.P490P|LRRTM4_ENST00000409884.1_Silent_p.P490P	NM_001282928.1|NM_024993.4	NP_001269857.1|NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	490						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		CAGAGTTTGTAGGCTTGTAGT	0.468000													27	15					0	0	1	0	0
IL4I1	259307	broad.mit.edu	37	19	50393824	50393824	+	Silent	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:50393824C>A	ENST00000595948.1	-	10	1493	c.873G>T	c.(871-873)ctG>ctT	p.L291L	IL4I1_ENST00000391826.2_Silent_p.L269L|IL4I1_ENST00000341114.3_Silent_p.L291L	NM_001258018.1	NP_001244947.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	269						lysosome	L-amino-acid oxidase activity			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)		GCGCGCGCGGCAGCAGGTCCC	0.721000													14	1					9.95505e-16	1.10779e-15	1	1	0
ZFHX4	79776	broad.mit.edu	37	8	77765656	77765656	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr8:77765656G>T	ENST00000521891.2	+	10	6947	c.6499G>T	c.(6499-6501)Ggc>Tgc	p.G2167C	ZFHX4_ENST00000050961.6_Missense_Mutation_p.G2122C|ZFHX4_ENST00000518282.1_Missense_Mutation_p.G2141C|ZFHX4_ENST00000455469.2_Missense_Mutation_p.G2122C	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2122						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)			AGAGAAATCTGGCCTCTCCCA	0.368000										HNSCC(33;0.089)			19	17					4.96729e-08	5.21171e-08	1	1	0
CEP290	80184	broad.mit.edu	37	12	88482860	88482860	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:88482860C>A	ENST00000552810.1	-	31	4321	c.3978G>T	c.(3976-3978)aaG>aaT	p.K1326N	CEP290_ENST00000547691.2_Missense_Mutation_p.K386N|CEP290_ENST00000397838.3_Missense_Mutation_p.K386N|CEP290_ENST00000309041.7_Missense_Mutation_p.K1328N	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1326					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						CTTCCAGGCCCTTTAATTTTA	0.294000													17	12					3.62473e-10	3.88322e-10	1	1	0
PAX3	5077	broad.mit.edu	37	2	223086063	223086063	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:223086063C>T	ENST00000350526.4	-	6	972	c.836G>A	c.(835-837)gGg>gAg	p.G279E	PAX3_ENST00000392070.2_Missense_Mutation_p.G279E|PAX3_ENST00000336840.6_Missense_Mutation_p.G279E|PAX3_ENST00000464706.1_5'UTR|PAX3_ENST00000392069.2_Missense_Mutation_p.G279E|PAX3_ENST00000409551.3_Missense_Mutation_p.G278E|PAX3_ENST00000344493.4_Missense_Mutation_p.G279E	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	279					apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTGATTGGCCCCAGCTTGCTT	0.473000			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						74	5					0	0	1	0	0
TARS2	80222	broad.mit.edu	37	1	150478109	150478109	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:150478109G>C	ENST00000369064.3	+	17	1970	c.1936G>C	c.(1936-1938)Gat>Cat	p.D646H	TARS2_ENST00000606933.1_Missense_Mutation_p.D564H|TARS2_ENST00000369054.2_Missense_Mutation_p.D516H	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	646					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CAGTGACCTGGATGCAGACTC	0.532000													40	185					0	0	1	0	0
RBM14	10432	broad.mit.edu	37	11	66392723	66392723	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:66392723G>T	ENST00000310137.4	+	2	1515	c.1376G>T	c.(1375-1377)gGc>gTc	p.G459V	RBM14_ENST00000393979.3_Intron|RBM14-RBM4_ENST00000511114.1_Intron|RBM4_ENST00000503028.2_Intron|RBM4_ENST00000514361.3_Intron|RBM14-RBM4_ENST00000412278.2_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM14_ENST00000409738.4_Intron	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	459	Ala-rich.				DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						CCAATGGCTGGCTCCTATGGG	0.622000													84	107					4.15467e-78	4.97506e-78	1	1	0
RNF11	26994	broad.mit.edu	37	1	51702486	51702486	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:51702486C>G	ENST00000242719.3	+	1	544	c.58C>G	c.(58-60)Cag>Gag	p.Q20E	RNF11_ENST00000494873.1_3'UTR	NM_014372.4	NP_055187.1	Q9Y3C5	RNF11_HUMAN	ring finger protein 11	20					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	DNA binding|protein binding|zinc ion binding	p.0?(2)		large_intestine(1)	1						TCACGAGTCTCAGTCCGACCG	0.637000													33	2					0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51873094	51873094	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr20:51873094G>A	ENST00000371497.5	+	2	3984	c.3097G>A	c.(3097-3099)Gaa>Aaa	p.E1033K	TSHZ2_ENST00000603338.2_Missense_Mutation_p.E1030K|RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.E1030K	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	1033					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AGACGTGGATGAAGAATAGCT	0.493000													85	41					0	0	1	0	0
ZBTB20	26137	broad.mit.edu	37	3	114070467	114070467	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:114070467T>C	ENST00000462705.1	-	11	1060	c.239A>G	c.(238-240)aAg>aGg	p.K80R	ZBTB20_ENST00000464560.1_Missense_Mutation_p.K80R|ZBTB20_ENST00000474710.1_Missense_Mutation_p.K153R|ZBTB20_ENST00000481632.1_Missense_Mutation_p.K80R|ZBTB20_ENST00000393785.2_Missense_Mutation_p.K80R|ZBTB20_ENST00000357258.3_Missense_Mutation_p.K80R|ZBTB20_ENST00000471418.1_Missense_Mutation_p.K80R	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	153					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GTCAATGAGCTTTTGCACTGA	0.582000													18	53					0	0	1	0	0
OR6N2	81442	broad.mit.edu	37	1	158747267	158747267	+	Silent	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:158747267T>C	ENST00000339258.1	-	1	158	c.159A>G	c.(157-159)gcA>gcG	p.A53A		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					TGTGCAGAGCTGCATCCAGTC	0.463000													174	58					0	0	1	0	0
TPGS2	25941	broad.mit.edu	37	18	34378506	34378506	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr18:34378506G>C	ENST00000334295.4	-	6	990	c.563C>G	c.(562-564)aCc>aGc	p.T188S	TPGS2_ENST00000590842.1_Missense_Mutation_p.T188S|TPGS2_ENST00000587129.1_Missense_Mutation_p.T188S|TPGS2_ENST00000590652.1_5'UTR|TPGS2_ENST00000383056.3_Missense_Mutation_p.T145S|TPGS2_ENST00000589049.1_Missense_Mutation_p.T188S|TPGS2_ENST00000593035.1_Missense_Mutation_p.T153S	NM_015476.2	NP_056291.2	Q68CL5	TPGS2_HUMAN	tubulin polyglutamylase complex subunit 2	188						cytoplasm|microtubule											GGCAGTAAAGGTGTCTGTGAG	0.493000													62	62					0	0	1	0	0
DKK3	27122	broad.mit.edu	37	11	11987391	11987391	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:11987391G>T	ENST00000396505.2	-	7	1033	c.795C>A	c.(793-795)tgC>tgA	p.C265*	DKK3_ENST00000525493.1_Nonsense_Mutation_p.C265*|DKK3_ENST00000527132.1_Intron|DKK3_ENST00000326932.4_Nonsense_Mutation_p.C265*|DKK3_ENST00000450094.2_Nonsense_Mutation_p.C237*	NM_015881.5	NP_056965.3	Q9UBP4	DKK3_HUMAN	dickkopf WNT signaling pathway inhibitor 3	265	DKK-type Cys-2.				adrenal gland development|anatomical structure morphogenesis|negative regulation of aldosterone biosynthetic process|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cortisol biosynthetic process|negative regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	extracellular space				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1)	8				Epithelial(150;0.000502)		TGGCACAAGGGCATCGGTCCA	0.672000													21	1					1.75199e-13	1.9205e-13	1	1	0
MBP	4155	broad.mit.edu	37	18	74700837	74700837	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr18:74700837C>T	ENST00000355994.2	-	6	976	c.713G>A	c.(712-714)gGa>gAa	p.G238E	MBP_ENST00000397869.3_Missense_Mutation_p.G105E|MBP_ENST00000528160.1_Intron|MBP_ENST00000359645.3_Missense_Mutation_p.G131E|MBP_ENST00000382582.3_Missense_Mutation_p.G131E|MBP_ENST00000354542.4_Intron|MBP_ENST00000578193.1_Missense_Mutation_p.G105E|MBP_ENST00000579129.1_Missense_Mutation_p.G238E|MBP_ENST00000397866.4_Missense_Mutation_p.G105E|MBP_ENST00000526111.1_Missense_Mutation_p.G83E|MBP_ENST00000580402.1_Missense_Mutation_p.G238E|MBP_ENST00000397865.5_Missense_Mutation_p.G105E|MBP_ENST00000527041.1_Intron|MBP_ENST00000397875.3_Missense_Mutation_p.G115E	NM_001025101.1	NP_001020272.1	P02686	MBP_HUMAN	myelin basic protein	238					central nervous system development|immune response|synaptic transmission	plasma membrane	structural constituent of myelin sheath			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)		TCTTACCTTTCCCTGCGACGG	0.522000													82	104					0	0	1	0	0
NCSTN	23385	broad.mit.edu	37	1	160326392	160326392	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:160326392G>T	ENST00000368063.1	+	16	1862	c.1582G>T	c.(1582-1584)Gac>Tac	p.D528Y	NCSTN_ENST00000294785.5_Missense_Mutation_p.D548Y|NCSTN_ENST00000368065.4_Missense_Mutation_p.D290Y|NCSTN_ENST00000535857.1_Missense_Mutation_p.D410Y|NCSTN_ENST00000392212.4_Missense_Mutation_p.D528Y			Q92542	NICA_HUMAN	nicastrin	548					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCACTCAGGTGACGGGCCTCT	0.512000													48	251					2.93687e-30	3.44197e-30	1	1	0
PDE11A	50940	broad.mit.edu	37	2	178684974	178684974	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:178684974T>C	ENST00000286063.6	-	7	1866	c.1549A>G	c.(1549-1551)Att>Gtt	p.I517V	PDE11A_ENST00000449286.2_Missense_Mutation_p.I159V|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000409504.1_Missense_Mutation_p.I159V|PDE11A_ENST00000358450.4_Missense_Mutation_p.I267V|PDE11A_ENST00000389683.3_Missense_Mutation_p.I73V	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A		GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			CTATTCCAAATAGGGACACAA	0.294000									Primary Pigmented Nodular Adrenocortical Disease, Familial				29	16					0	0	1	0	0
CDCA5	113130	broad.mit.edu	37	11	64847132	64847132	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:64847132G>A	ENST00000275517.3	-	5	543	c.371C>T	c.(370-372)tCc>tTc	p.S124F	CDCA5_ENST00000404147.3_Missense_Mutation_p.S124F	NM_080668.3	NP_542399.1	Q96FF9	CDCA5_HUMAN	cell division cycle associated 5	124					cell division|double-strand break repair|G1/S transition of mitotic cell cycle|mitotic chromosome condensation|mitotic metaphase plate congression|mitotic sister chromatid cohesion|regulation of cohesin localization to chromatin	cytoplasm|nuclear chromatin|plasma membrane	chromatin binding|identical protein binding			large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CTTGGAGCTGGACTCGGCCTC	0.607000													5	2					0	0	1	0	0
IL12B	3593	broad.mit.edu	37	5	158750268	158750268	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:158750268G>T	ENST00000231228.2	-	3	613	c.158C>A	c.(157-159)cCt>cAt	p.P53H		NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	53	Ig-like C2-type.				cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	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)			ATCTTCTTCAGGGGTGTCACA	0.507000													14	17					3.57192e-18	4.04981e-18	1	1	0
ANK2	287	broad.mit.edu	37	4	114179491	114179491	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:114179491T>C	ENST00000357077.4	+	13	1363	c.1310T>C	c.(1309-1311)gTg>gCg	p.V437A	ANK2_ENST00000506722.1_Missense_Mutation_p.V416A|ANK2_ENST00000264366.6_Missense_Mutation_p.V437A|ANK2_ENST00000394537.3_Missense_Mutation_p.V437A	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	437					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CCAATACATGTGGCTGCCTTC	0.488000													28	96					0	0	1	0	0
RCOR1	23186	broad.mit.edu	37	14	103188691	103188691	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:103188691A>T	ENST00000262241.6	+	11	1583	c.1357A>T	c.(1357-1359)Agt>Tgt	p.S453C	RCOR1_ENST00000570597.1_Missense_Mutation_p.S450C	NM_015156.3	NP_055971.2	Q9UKL0	RCOR1_HUMAN	REST corepressor 1	450					blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						CAATGGGCCCAGTAACCAGAA	0.418000													53	44					0	0	1	0	0
FITM2	128486	broad.mit.edu	37	20	42935833	42935833	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr20:42935833G>C	ENST00000396825.3	-	2	241	c.221C>G	c.(220-222)cCt>cGt	p.P74R		NM_001080472.1	NP_001073941.1	Q8N6M3	FITM2_HUMAN	fat storage-inducing transmembrane protein 2	74					cellular triglyceride homeostasis|lipid particle organization|positive regulation of sequestering of triglyceride|regulation of triglyceride biosynthetic process	integral to endoplasmic reticulum membrane				endometrium(2)|lung(2)|skin(2)	6						GGCAATGAAAGGCAGAAGGAG	0.577000													24	8					0	0	1	0	0
ATP2B1	490	broad.mit.edu	37	12	90004246	90004246	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:90004246G>A	ENST00000428670.3	-	14	2743	c.2287C>T	c.(2287-2289)Cga>Tga	p.R763*	ATP2B1_ENST00000261173.2_Nonsense_Mutation_p.R763*|ATP2B1_ENST00000348959.3_Nonsense_Mutation_p.R763*|ATP2B1_ENST00000393164.2_Nonsense_Mutation_p.R506*|ATP2B1_ENST00000359142.3_Nonsense_Mutation_p.R763*			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	763					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						GCAAGTACTCGAAGTTTTGGC	0.323000													43	123					0	0	1	0	0
CEP250	11190	broad.mit.edu	37	20	34057721	34057721	+	Silent	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr20:34057721C>G	ENST00000397527.1	+	10	1578	c.858C>G	c.(856-858)acC>acG	p.T286T	CEP250_ENST00000397524.1_Silent_p.T286T|CEP250_ENST00000342580.4_Silent_p.T286T	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	286					centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			TTAGGGTGACCGAGCTCTCTG	0.512000													5	27					0	0	1	0	0
DFNA5	1687	broad.mit.edu	37	7	24756952	24756952	+	Silent	SNP	G	G	A	rs142033677		TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:24756952G>A	ENST00000545231.1	-	7	1276	c.126C>T	c.(124-126)aaC>aaT	p.N42N	DFNA5_ENST00000342947.3_Silent_p.N206N|DFNA5_ENST00000559637.1_5'UTR|DFNA5_ENST00000409970.1_Silent_p.N42N|DFNA5_ENST00000409775.3_Silent_p.N206N|DFNA5_ENST00000419307.1_Silent_p.N42N			O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	206					sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						CCAGCACCACGTTGGAGTCCT	0.582000													32	17					0	0	1	0	0
ZMAT1	84460	broad.mit.edu	37	X	101153125	101153125	+	Silent	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chrX:101153125A>T	ENST00000372782.3	-	4	344	c.297T>A	c.(295-297)ggT>ggA	p.G99G	ZMAT1_ENST00000540921.1_Silent_p.G99G|ZMAT1_ENST00000458570.1_5'UTR	NM_001011657.3	NP_001011657	A7MD47	A7MD47_HUMAN	zinc finger, matrin-type 1	0						nucleus	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TCATTTTCTTACCAGGCACTT	0.313000													22	0					0	0	1	0	0
CYP24A1	1591	broad.mit.edu	37	20	52788149	52788149	+	Silent	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr20:52788149C>A	ENST00000216862.3	-	3	903	c.510G>T	c.(508-510)ggG>ggT	p.G170G	CYP24A1_ENST00000395954.3_Silent_p.G28G|CYP24A1_ENST00000395955.3_Silent_p.G170G	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	170					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	TCATCACTTCCCCTGGTTTCA	0.507000													29	153					2.80507e-11	3.03462e-11	1	1	0
ANKRD50	57182	broad.mit.edu	37	4	125593360	125593360	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:125593360G>A	ENST00000504087.1	-	4	2109	c.1072C>T	c.(1072-1074)Ctt>Ttt	p.L358F	ANKRD50_ENST00000515641.1_Missense_Mutation_p.L179F	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	358										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						CAGGCTGCAAGAATCACATTC	0.383000													25	50					0	0	1	0	0
KCNJ2	3759	broad.mit.edu	37	17	68171368	68171368	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:68171368A>G	ENST00000243457.3	+	2	571	c.188A>G	c.(187-189)gAg>gGg	p.E63G	KCNJ2_ENST00000535240.1_Missense_Mutation_p.E63G	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	63					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					AATGTGGGTGAGAAGGGGCAA	0.527000													6	75					0	0	1	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803494	142803494	+	RNA	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:142803494T>A	ENST00000423385.1	-	0	1471																											GTACATTTATTATTGATTTAA	0.318000													9	61					0	0	1	0	0
SPATA5L1	79029	broad.mit.edu	37	15	45713304	45713304	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr15:45713304C>T	ENST00000305560.6	+	8	2257	c.2158C>T	c.(2158-2160)Cta>Tta	p.L720L	SPATA5L1_ENST00000533841.1_3'UTR	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	720						cytoplasm	ATP binding|nucleoside-triphosphatase activity			kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		AGAGCACTTTCTAAAATCACT	0.358000													5	9					0	0	1	0	0
GCA	25801	broad.mit.edu	37	2	163213345	163213345	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:163213345C>T	ENST00000437150.2	+	5	545	c.384C>T	c.(382-384)ttC>ttT	p.F128F	GCA_ENST00000233612.4_Silent_p.F109F|GCA_ENST00000429691.2_Intron	NM_012198.3	NP_036330.1	P28676	GRAN_HUMAN	grancalcin, EF-hand calcium binding protein	128	EF-hand 3.				cellular membrane fusion	cytoplasm|plasma membrane	calcium ion binding|protein homodimerization activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	9						AGGAAAACTTCATGACTGTTG	0.368000													46	22					0	0	1	0	0
KRT36	8689	broad.mit.edu	37	17	39646100	39646100	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:39646100C>T	ENST00000328119.6	-	1	16	c.17G>A	c.(16-18)tGc>tAc	p.C6Y	KRT36_ENST00000393986.2_Intron	NM_003771.4	NP_003762.1	O76013	KRT36_HUMAN	keratin 36	6	Head.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				GGTAGGGGTGCAGGTCTGGGT	0.582000													9	37					0	0	1	0	0
CKAP5	9793	broad.mit.edu	37	11	46802036	46802036	+	Splice_Site	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:46802036C>T	ENST00000529230.1	-	19	2296		c.e19-1		CKAP5_ENST00000415402.1_Splice_Site|CKAP5_ENST00000312055.5_Splice_Site|CKAP5_ENST00000354558.3_Splice_Site			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5						cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding	p.?(1)		breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						GACATTCAACCTAGAAGAAAC	0.368000													11	10					0	0	1	0	0
BUD13	84811	broad.mit.edu	37	11	116643573	116643573	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:116643573T>A	ENST00000260210.4	-	1	131	c.108A>T	c.(106-108)aaA>aaT	p.K36N	BUD13_ENST00000375445.3_Missense_Mutation_p.K36N	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	36										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		TCGGCCGCTTTTTGCGACGCT	0.692000													6	3					0	0	1	0	0
IGHG1	3500	broad.mit.edu	37	14	106207975	106207975	+	RNA	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:106207975G>T	ENST00000390548.2	-	0	827																											CGGGAGGCGTGGTCTTGTAGT	0.602000													116	92					1.4734e-65	1.76116e-65	1	1	0
HIP1R	9026	broad.mit.edu	37	12	123333067	123333067	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:123333067C>T	ENST00000253083.4	+	3	337	c.212C>T	c.(211-213)gCc>gTc	p.A71V		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	71	ENTH.				receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		TGGTCCTACGCCATTGGGCTG	0.597000													18	46					0	0	1	0	0
VIPR2	7434	broad.mit.edu	37	7	158851235	158851235	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:158851235G>T	ENST00000262178.2	-	5	577	c.392C>A	c.(391-393)aCa>aAa	p.T131K	VIPR2_ENST00000377633.3_Missense_Mutation_p.T115K|VIPR2_ENST00000402066.1_Missense_Mutation_p.T272K	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	131					cell-cell signaling	integral to plasma membrane				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		GTAGCCCAGTGTATAAATGGC	0.413000													27	58					2.19489e-29	2.56329e-29	1	1	0
LPO	4025	broad.mit.edu	37	17	56327830	56327830	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:56327830G>A	ENST00000262290.4	+	7	944	c.628G>A	c.(628-630)Gac>Aac	p.D210N	LPO_ENST00000582328.1_Missense_Mutation_p.D127N|LPO_ENST00000543544.1_Missense_Mutation_p.D151N|LPO_ENST00000421678.2_Missense_Mutation_p.D127N	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	210					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.D210H(1)		breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						GGGTGTTCTGGACCAAAACAG	0.527000													24	47					0	0	1	0	0
MYO9B	4650	broad.mit.edu	37	19	17312810	17312810	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:17312810A>T	ENST00000595618.1	+	27	4791	c.4639A>T	c.(4639-4641)Atc>Ttc	p.I1547F	MYO9B_ENST00000594824.1_Missense_Mutation_p.I1547F|MYO9B_ENST00000397274.2_Missense_Mutation_p.I1547F	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	1547	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CAGGAGCAACATCAAAACGAT	0.567000													11	7					0	0	1	0	0
KRTAP10-4	386672	broad.mit.edu	37	21	45994247	45994247	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr21:45994247C>T	ENST00000400374.3	+	1	642	c.612C>T	c.(610-612)tgC>tgT	p.C204C	TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	204	36 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						TCAGCTCCTGCACGCCCTCGT	0.662000													51	6					0	0	1	0	0
CREB5	9586	broad.mit.edu	37	7	28763907	28763907	+	Nonsense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:28763907T>A	ENST00000357727.2	+	7	1050	c.660T>A	c.(658-660)tgT>tgA	p.C220*	CREB5_ENST00000396300.2_Nonsense_Mutation_p.C213*|CREB5_ENST00000396299.2_Nonsense_Mutation_p.C187*|CREB5_ENST00000409603.1_Nonsense_Mutation_p.C187*|CREB5_ENST00000396298.2_Nonsense_Mutation_p.C81*	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	220					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						GCAACCCCTGTGCTTCTCCCC	0.408000													12	27					0	0	1	0	0
NRDE2	55051	broad.mit.edu	37	14	90767622	90767622	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:90767622G>C	ENST00000354366.3	-	7	1738	c.1506C>G	c.(1504-1506)ttC>ttG	p.F502L	NRDE2_ENST00000357904.3_Missense_Mutation_p.F271L	NM_017970.3	NP_060440.2			NRDE-2, necessary for RNA interference, domain containing																		TGTCGGGTTTGAAGAAGGTGA	0.562000													42	24					0	0	1	0	0
PCDHA6	56142	broad.mit.edu	37	5	140209923	140209923	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:140209923G>A	ENST00000529310.1	+	1	2361	c.2247G>A	c.(2245-2247)tcG>tcA	p.S749S	PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGCTGGTCGTACTCGCAGC	0.657000													3	52					0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136115	40136115	+	Silent	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:40136115C>A	ENST00000278198.2	-	2	3691	c.1728G>T	c.(1726-1728)acG>acT	p.T576T	LRRC4C_ENST00000530763.1_Silent_p.T576T|LRRC4C_ENST00000528697.1_Silent_p.T576T|LRRC4C_ENST00000527150.1_Silent_p.T576T			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	576					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GTGTGTCTCCCGTAATCTCAT	0.458000													44	59					1.42923e-14	1.58244e-14	1	1	0
EPT1	85465	broad.mit.edu	37	2	26587758	26587758	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:26587758T>A	ENST00000260585.7	+	3	304	c.185T>A	c.(184-186)gTa>gAa	p.V62E		NM_033505.2	NP_277040.1	Q9C0D9	EPT1_HUMAN	ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific)	62					phospholipid biosynthetic process	integral to membrane	ethanolaminephosphotransferase activity|metal ion binding										CTGCTGGTCGTATTCAATTTT	0.303000													26	17					0	0	1	0	0
CER1	9350	broad.mit.edu	37	9	14720287	14720287	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr9:14720287G>T	ENST00000380911.3	-	2	649	c.605C>A	c.(604-606)tCc>tAc	p.S202Y		NM_005454.2	NP_005445.1	O95813	CER1_HUMAN	cerberus 1, DAN family BMP antagonist	202	CTCK.				BMP signaling pathway	extracellular space	cytokine activity			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		GGAGGTATGGGAGTGCTGCGC	0.502000													25	98					1.80694e-10	1.9421e-10	1	1	0
EML1	2009	broad.mit.edu	37	14	100402395	100402395	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:100402395G>A	ENST00000262233.6	+	18	2078	c.1939G>A	c.(1939-1941)Gac>Aac	p.D647N	EML1_ENST00000327921.9_Missense_Mutation_p.D635N|EML1_ENST00000334192.4_Missense_Mutation_p.D666N	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	647						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				AGGCTCACATGACAACTGCAT	0.423000													15	51					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62292550	62292550	+	Silent	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:62292550C>A	ENST00000378024.4	-	5	9613	c.9339G>T	c.(9337-9339)ctG>ctT	p.L3113L	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3113					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCACTTTTGGCAGAGACACAT	0.473000													96	127					2.68928e-46	3.1914e-46	1	1	0
PRKRIR	5612	broad.mit.edu	37	11	76062849	76062849	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:76062849C>G	ENST00000260045.3	-	5	1450	c.1345G>C	c.(1345-1347)Gat>Cat	p.D449H		NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	449					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						TTTATACCATCTAAACATAAA	0.383000													24	24					0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33589420	33589420	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:33589420A>G	ENST00000404816.2	+	30	4890	c.4537A>G	c.(4537-4539)Aac>Gac	p.N1513D	LTBP1_ENST00000390003.4_Missense_Mutation_p.N1188D|LTBP1_ENST00000418533.2_Missense_Mutation_p.N1145D|LTBP1_ENST00000407925.1_Missense_Mutation_p.N1187D|LTBP1_ENST00000404525.1_Missense_Mutation_p.N1134D|LTBP1_ENST00000402934.1_Missense_Mutation_p.N1132D|LTBP1_ENST00000354476.3_Missense_Mutation_p.N1514D|LTBP1_ENST00000272273.5_Missense_Mutation_p.N411D			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1513					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)				GGCTGAGTCAAACGGTATGTT	0.398000													14	7					0	0	1	0	0
PTPRH	5794	broad.mit.edu	37	19	55718252	55718252	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:55718252G>T	ENST00000376350.3	-	3	179	c.157C>A	c.(157-159)Ccc>Acc	p.P53T	PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Missense_Mutation_p.P53T	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	53	Fibronectin type-III 1.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		AGGCCATCGGGGACCTCCCAG	0.567000													53	2					5.12918e-33	6.04347e-33	1	1	0
BEST3	144453	broad.mit.edu	37	12	70070964	70070964	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:70070964G>A	ENST00000330891.5	-	6	936	c.710C>T	c.(709-711)aCc>aTc	p.T237I	BEST3_ENST00000331471.4_Missense_Mutation_p.T237I|BEST3_ENST00000553096.1_Missense_Mutation_p.T131I|BEST3_ENST00000488961.1_Missense_Mutation_p.T75I|BEST3_ENST00000476098.1_Missense_Mutation_p.T75I	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	237						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			TCTTACCTGGGTGTAAACCAG	0.478000													4	16					0	0	1	0	0
TTPAL	79183	broad.mit.edu	37	20	43115337	43115337	+	Silent	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr20:43115337A>T	ENST00000372904.3	+	5	884	c.741A>T	c.(739-741)atA>atT	p.I247I	TTPAL_ENST00000262605.4_Silent_p.I247I|TTPAL_ENST00000372906.2_Intron	NM_024331.4	NP_077307.2	Q9BTX7	TTPAL_HUMAN	tocopherol (alpha) transfer protein-like	247	CRAL-TRIO.					intracellular	transporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5)	18						AGGAGAAAATAGCAAACAGAG	0.348000													5	8					0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	97311498	97311498	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:97311498T>A	ENST00000389672.5	+	12	2467	c.2429T>A	c.(2428-2430)tTc>tAc	p.F810Y	EPHA6_ENST00000502694.1_Missense_Mutation_p.F202Y|EPHA6_ENST00000514100.1_Missense_Mutation_p.F202Y|EPHA6_ENST00000442602.2_Missense_Mutation_p.F176Y	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	715	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TGCCCCAGCTTCCTGAGGGCA	0.493000													11	23					0	0	1	0	0
RIF1	55183	broad.mit.edu	37	2	152330584	152330584	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:152330584C>G	ENST00000243326.5	+	34	7685	c.7202C>G	c.(7201-7203)tCa>tGa	p.S2401*	RIF1_ENST00000428287.2_Nonsense_Mutation_p.S2375*|RIF1_ENST00000430328.2_Nonsense_Mutation_p.S2375*|RIF1_ENST00000444746.2_Nonsense_Mutation_p.S2401*|RIF1_ENST00000453091.2_Nonsense_Mutation_p.S2375*			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)		Interaction with condensed chromosomes in telophase.				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AGACTTGTCTCAGGTATATTT	0.299000													32	26					0	0	1	0	0
ZNF646	9726	broad.mit.edu	37	16	31090894	31090894	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr16:31090894C>T	ENST00000394979.2	+	1	3672	c.3249C>T	c.(3247-3249)gtC>gtT	p.V1083V	ZNF646_ENST00000300850.5_Silent_p.V1083V			O15015	ZN646_HUMAN	zinc finger protein 646	1083					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						TCTGCCCTGTCTGCTCCCGCT	0.627000													129	272					0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	93004034	93004034	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr8:93004034C>A	ENST00000523629.1	-	7	1278	c.824G>T	c.(823-825)cGg>cTg	p.R275L	RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R248L|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R286L|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R238L|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R238L|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R248L|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R238L|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R275L	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	275					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R275L(1)|p.R238L(1)|p.R286L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TGGACTGTACCGCTGGCCTGG	0.512000													22	23					4.87955e-14	5.37564e-14	1	1	0
TRPV1	7442	broad.mit.edu	37	17	3477062	3477062	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:3477062G>C	ENST00000174621.6	-	12	2251	c.1962C>G	c.(1960-1962)ttC>ttG	p.F654L	SHPK_ENST00000572705.1_Missense_Mutation_p.F656L|TRPV1_ENST00000576351.1_Missense_Mutation_p.F646L|TRPV1_ENST00000425167.2_Missense_Mutation_p.F667L|TRPV1_ENST00000571088.1_Missense_Mutation_p.F656L|TRPV1_ENST00000310522.5_Missense_Mutation_p.F596L|TRPV1_ENST00000399759.3_Missense_Mutation_p.F656L|TRPV1_ENST00000399756.4_Missense_Mutation_p.F656L			Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	656					cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	AGACAGCCTTGAAGTCATAGT	0.527000													34	50					0	0	1	0	0
ATP6V1B1	525	broad.mit.edu	37	2	71191936	71191936	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:71191936C>A	ENST00000234396.4	+	13	1392	c.1319C>A	c.(1318-1320)tCt>tAt	p.S440Y	AC007040.11_ENST00000606025.1_Intron|ATP6V1B1_ENST00000412314.1_Missense_Mutation_p.S423Y	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	440					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						GCGCTCACCTCTGAGGACCTG	0.597000											OREG0014686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	24					8.16721e-17	9.18116e-17	1	1	0
XAF1	54739	broad.mit.edu	37	17	6674105	6674105	+	Silent	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:6674105A>T	ENST00000361842.3	+	6	890	c.651A>T	c.(649-651)atA>atT	p.I217I	XAF1_ENST00000346752.4_Silent_p.I198I|XAF1_ENST00000441631.1_Silent_p.I217I	NM_017523.3	NP_059993.2	Q6GPH4	XAF1_HUMAN	XIAP associated factor 1	217					apoptosis|type I interferon-mediated signaling pathway	mitochondrion|nucleus	zinc ion binding			large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	6						CAAGAAGTATAAACAGATTTC	0.398000													18	13					0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48375906	48375906	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:48375906C>A	ENST00000380518.3	-	35	2503	c.2339G>T	c.(2338-2340)gGa>gTa	p.G780V	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.G711V	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	780	Triple-helical region.		G -> R (in ACG2).		axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	p.G780E(1)|p.G711E(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	ACCATCCTTTCCAGGGGCTCC	0.617000													79	126					1.33835e-49	1.59109e-49	1	1	0
CABS1	85438	broad.mit.edu	37	4	71201390	71201390	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:71201390A>G	ENST00000273936.5	+	1	708	c.634A>G	c.(634-636)Att>Gtt	p.I212V		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1							flagellum	calcium ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TGATTCCACTATTCCTGAGGC	0.428000													18	26					0	0	1	0	0
GRK7	131890	broad.mit.edu	37	3	141497288	141497288	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:141497288G>A	ENST00000264952.2	+	1	299	c.162G>A	c.(160-162)ctG>ctA	p.L54L		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	54					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						AGCTGTCCCTGAACTTCCACA	0.677000													20	1					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124357509	124357509	+	Silent	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr10:124357509C>G	ENST00000338354.3	+	25	3043	c.2937C>G	c.(2935-2937)acC>acG	p.T979T	DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368955.3_Silent_p.T969T|DMBT1_ENST00000330163.4_Silent_p.T480T|DMBT1_ENST00000368956.2_Silent_p.T480T|DMBT1_ENST00000344338.3_Silent_p.T969T|DMBT1_ENST00000368909.3_Silent_p.T979T			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	979					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CGACCATCACCTTGCCTGCAT	0.453000													122	5					0	0	1	0	0
KDM1B	221656	broad.mit.edu	37	6	18222170	18222170	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:18222170A>G	ENST00000388870.2	+	22	2660	c.2419A>G	c.(2419-2421)Aca>Gca	p.T807A	KDM1B_ENST00000297792.5_Missense_Mutation_p.T574A|KDM1B_ENST00000546309.2_Missense_Mutation_p.T97A|KDM1B_ENST00000397244.1_Missense_Mutation_p.T575A			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	806					multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						ACAAACTGTTACAGGGGCATA	0.398000													7	136					0	0	1	0	0
MAP2K3	5606	broad.mit.edu	37	17	21207797	21207797	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:21207797G>T	ENST00000342679.4	+	8	877	c.628G>T	c.(628-630)Ggc>Tgc	p.G210C	MAP2K3_ENST00000316920.6_Missense_Mutation_p.G181C|MAP2K3_ENST00000361818.5_Missense_Mutation_p.G181C	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	210	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|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 kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		GTGTGACTTTGGCATCAGTGG	0.587000													13	80					0.0202918	0.0205719	1	1	0
NCKAP5L	57701	broad.mit.edu	37	12	50189721	50189721	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:50189721G>T	ENST00000335999.6	-	8	2123	c.1922C>A	c.(1921-1923)tCa>tAa	p.S641*		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	637										central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						CTTCTTGGATGAGTTGCCTGG	0.652000													6	2					2.0095e-06	2.08849e-06	1	1	0
SOS2	6655	broad.mit.edu	37	14	50649252	50649252	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:50649252C>T	ENST00000216373.5	-	6	1061	c.787G>A	c.(787-789)Gac>Aac	p.D263N	SOS2_ENST00000543680.1_Missense_Mutation_p.D263N	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	263	DH.				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	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TCAACTGTGTCTTCAATCAAA	0.333000													11	19					0	0	1	0	0
SS18	6760	broad.mit.edu	37	18	23637560	23637560	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr18:23637560C>G	ENST00000415083.2	-	4	433	c.378G>C	c.(376-378)caG>caC	p.Q126H	SS18_ENST00000539849.1_Missense_Mutation_p.Q44H|SS18_ENST00000545952.1_Missense_Mutation_p.Q74H|SS18_ENST00000269137.7_Missense_Mutation_p.Q126H|SS18_ENST00000585241.1_5'UTR|SS18_ENST00000542420.2_Missense_Mutation_p.Q103H|SS18_ENST00000542743.1_Missense_Mutation_p.Q74H	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	126	Transcriptional activation.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding		SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					TACCAGGCATCTGGCCGTTCA	0.522000			T	"""SSX1,  SSX2"""	synovial sarcoma								34	46					0	0	1	0	0
LAG3	3902	broad.mit.edu	37	12	6882428	6882428	+	Silent	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:6882428C>A	ENST00000203629.2	+	2	462	c.129C>A	c.(127-129)ccC>ccA	p.P43P	LAG3_ENST00000441671.2_Silent_p.P43P	NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN	lymphocyte-activation gene 3	43	Ig-like V-type.					integral to membrane	antigen binding|MHC class II protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CCCAGCTCCCCTGCAGCCCCA	0.637000													38	23					6.2361e-21	7.14396e-21	1	1	0
AKAP17A	8227	broad.mit.edu	37	X	1719725	1719725	+	Silent	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chrX:1719725G>T	ENST00000313871.3	+	5	1522	c.1326G>T	c.(1324-1326)ctG>ctT	p.L442L		NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	442	PKA-RI-alpha subunit binding domain.				B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						TGAGCATCCTGCTGAGCAAGA	0.692000													5	8					3.86212e-05	3.97023e-05	1	1	0
ANKS1B	56899	broad.mit.edu	37	12	100048914	100048914	+	Silent	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:100048914T>A	ENST00000547776.2	-	9	1202	c.1203A>T	c.(1201-1203)ccA>ccT	p.P401P	ANKS1B_ENST00000329257.7_Silent_p.P401P|ANKS1B_ENST00000547010.1_5'UTR	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	401						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		AAAGTCCTGATGGCCCACACG	0.393000													16	12					0	0	1	0	0
SORBS2	8470	broad.mit.edu	37	4	186544731	186544731	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:186544731C>G	ENST00000431808.1	-	14	2403	c.1840G>C	c.(1840-1842)Gag>Cag	p.E614Q	SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000284776.7_Missense_Mutation_p.E614Q|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.E518Q|SORBS2_ENST00000355634.5_Missense_Mutation_p.E714Q|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000393528.3_Intron			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	614						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GATGACCCCTCTAGGTGAATG	0.537000													29	23					0	0	1	0	0
ATP5B	506	broad.mit.edu	37	12	57033894	57033894	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:57033894G>A	ENST00000262030.3	-	8	1207	c.1157C>T	c.(1156-1158)tCg>tTg	p.S386L	ATP5B_ENST00000550162.1_5'UTR|ATP5B_ENST00000552919.1_Missense_Mutation_p.S375L	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide	386					angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AATGGCACGCGACAGTACAGT	0.512000													23	44					0	0	1	0	0
KRT222	125113	broad.mit.edu	37	17	38812797	38812797	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:38812797G>C	ENST00000476049.1	-	6	786	c.745C>G	c.(745-747)Ctt>Gtt	p.L249V	KRT222_ENST00000394052.3_Missense_Mutation_p.L249V			Q8N1A0	KT222_HUMAN	keratin 222	249						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						TCAAATCGAAGAGAAACAGAC	0.363000													23	34					0	0	1	0	0
TMEM229B	161145	broad.mit.edu	37	14	67940532	67940532	+	Silent	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:67940532A>G	ENST00000357461.2	-	3	518	c.109T>C	c.(109-111)Ttg>Ctg	p.L37L	TMEM229B_ENST00000557006.1_Silent_p.L37L	NM_182526.2	NP_872332.1	Q8NBD8	T229B_HUMAN	transmembrane protein 229B	37						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						TTCCAGTTCAAGTTCACCACG	0.632000													10	17					0	0	1	0	0
SPACA1	81833	broad.mit.edu	37	6	88775899	88775899	+	Splice_Site	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:88775899G>T	ENST00000237201.1	+	7	848		c.e7-1		SPACA1_ENST00000462690.1_Splice_Site	NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1							integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		TTTTCTTCCAGGGCAGCAGTC	0.368000													10	31					5.16669e-11	5.58036e-11	1	1	0
SFSWAP	6433	broad.mit.edu	37	12	132241141	132241141	+	Nonsense_Mutation	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:132241141A>T	ENST00000261674.4	+	11	1813	c.1672A>T	c.(1672-1674)Aag>Tag	p.K558*	SFSWAP_ENST00000541286.1_Nonsense_Mutation_p.K558*	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot homolog (Drosophila)	558					mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						AGGCGGGAAGAAGGAGGCATC	0.607000													9	14					0	0	1	0	0
ELP4	26610	broad.mit.edu	37	11	31784979	31784979	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:31784979G>C	ENST00000395934.2	+	11	1460	c.1453G>C	c.(1453-1455)Gag>Cag	p.E485Q	Z83001.1_ENST00000454509.1_RNA|ELP4_ENST00000379163.5_Missense_Mutation_p.L389F|Z83001.1_ENST00000429821.1_RNA|ELP4_ENST00000350638.5_Intron|Z83001.1_ENST00000434742.1_RNA			Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	0					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					ACAACTACTTGAGACAAGAGA	0.423000													15	15					0	0	1	0	0
POGLUT1	56983	broad.mit.edu	37	3	119205718	119205718	+	Missense_Mutation	SNP	G	G	T	rs117423733	by1000genomes	TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:119205718G>T	ENST00000295588.4	+	7	761	c.677G>T	c.(676-678)cGg>cTg	p.R226L		NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN	protein O-glucosyltransferase 1	226						endoplasmic reticulum lumen	UDP-glucosyltransferase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						CTTCTGTCTCGGAAAAACCCA	0.413000													47	68					1.88225e-35	2.22173e-35	1	1	0
ADAM15	8751	broad.mit.edu	37	1	155030787	155030787	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:155030787G>A	ENST00000356955.2	+	15	1888	c.1787G>A	c.(1786-1788)cGg>cAg	p.R596Q	ADAM15_ENST00000449910.2_Missense_Mutation_p.R596Q|ADAM15_ENST00000271836.6_Missense_Mutation_p.R596Q|ADAM15_ENST00000368410.2_Missense_Mutation_p.R302Q|ADAM15_ENST00000359280.4_Missense_Mutation_p.R596Q|ADAM15_ENST00000360674.4_Missense_Mutation_p.R596Q|ADAM15_ENST00000447332.3_Missense_Mutation_p.R580Q|ADAM15_ENST00000368413.1_Missense_Mutation_p.R302Q|ADAM15_ENST00000355956.2_Missense_Mutation_p.R596Q|ADAM15_ENST00000368412.3_Missense_Mutation_p.R596Q|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000531455.1_Missense_Mutation_p.R606Q	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	596	Cys-rich.				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GGCTCCATCCGGGATCTACTC	0.597000													13	65					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48694764	48694764	+	Silent	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr8:48694764A>G	ENST00000314191.2	-	81	11501	c.11445T>C	c.(11443-11445)ctT>ctC	p.L3815L	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Intron	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3816	PI3K/PI4K.				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)				TGGTGTTCAAAAGAAGGTCCT	0.502000								Non-homologous end-joining					8	50					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117724011	117724011	+	Silent	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:117724011A>G	ENST00000317775.6	-	6	1873	c.1188T>C	c.(1186-1188)acT>acC	p.T396T	NOS1_ENST00000338101.4_Silent_p.T396T|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	396					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GGTAAGTGCTAGTGGTGTCGA	0.562000													14	31					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41385013	41385013	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr21:41385013C>T	ENST00000400454.1	-	33	6464	c.5987G>A	c.(5986-5988)cGg>cAg	p.R1996Q		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1996				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).	cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CAAATGGCCCCGGGAGTCGAG	0.517000													26	2					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75039034	75039034	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:75039034T>A	ENST00000326665.5	-	14	2578	c.2360A>T	c.(2359-2361)gAc>gTc	p.D787V	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	787	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTGTACTATGTCAGCATCTCT	0.517000													60	2					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45303881	45303881	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:45303881C>A	ENST00000303230.4	-	6	1495	c.1438G>T	c.(1438-1440)Gat>Tat	p.D480Y		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	480						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						AAATTAGGATCCGCATTAGCA	0.383000													60	88					1.21826e-31	1.43032e-31	1	1	0
FMO2	2327	broad.mit.edu	37	1	171162616	171162616	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:171162616G>A	ENST00000441535.1	+	3	392	c.275G>A	c.(274-276)aGg>aAg	p.R92K	FMO2_ENST00000529935.1_3'UTR|FMO2_ENST00000209929.7_Missense_Mutation_p.R92K	NM_001460.2	NP_001451.1	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2 (non-functional)	92					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GAATATTTCAGGATTTTTGCT	0.343000													7	58					0	0	1	0	0
VAT1L	57687	broad.mit.edu	37	16	77896683	77896683	+	Silent	SNP	C	C	T	rs147711332		TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr16:77896683C>T	ENST00000302536.2	+	4	771	c.618C>T	c.(616-618)aaC>aaT	p.N206N	VAT1L_ENST00000563850.1_3'UTR	NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	206							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						CTGTCCCCAACGTGACTGTCT	0.478000													54	4					0	0	1	0	0
SMYD1	150572	broad.mit.edu	37	2	88405960	88405960	+	Silent	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:88405960C>A	ENST00000419482.2	+	8	1183	c.1098C>A	c.(1096-1098)gcC>gcA	p.A366A	SMYD1_ENST00000444564.2_Silent_p.A353A|SMYD1_ENST00000438570.1_Intron	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	366					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.A366A(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						ACCTCCAGGCCTTTGAGGAGG	0.532000													26	39					8.16721e-17	9.18116e-17	1	1	0
GNA14	9630	broad.mit.edu	37	9	80043925	80043925	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr9:80043925C>T	ENST00000341700.6	-	5	1134	c.621G>A	c.(619-621)tcG>tcA	p.S207S	GNA14_ENST00000464095.1_5'UTR	NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN	guanine nucleotide binding protein (G protein), alpha 14	207					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						TCCGTCTTTCCGATCGTTGGC	0.453000													112	71					0	0	1	0	0
NPTX2	4885	broad.mit.edu	37	7	98256632	98256632	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:98256632C>T	ENST00000265634.3	+	4	1209	c.1044C>T	c.(1042-1044)ggC>ggT	p.G348G		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	348	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			AGCCCGGGGGCGTGCTGATCC	0.677000													53	11					0	0	1	0	0
TTC7B	145567	broad.mit.edu	37	14	91077094	91077094	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:91077094G>A	ENST00000357056.2	-	17	2079	c.1958C>T	c.(1957-1959)cCc>cTc	p.P653L	TTC7B_ENST00000554654.1_5'UTR|TTC7B_ENST00000328459.6_Missense_Mutation_p.P653L			Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	653							binding			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				ACCTGTCTCGGGATCGCTGAA	0.498000													8	106					0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119951885	119951885	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:119951885C>T	ENST00000307142.4	+	4	2151	c.1955C>T	c.(1954-1956)cCt>cTt	p.P652L	SYNPO2_ENST00000429713.2_Missense_Mutation_p.P652L|SYNPO2_ENST00000434046.2_Missense_Mutation_p.P652L|SYNPO2_ENST00000448416.2_Intron	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	652	Pro-rich.					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						TGGCCCCAGCCTGCCCCGTGG	0.582000													28	24					0	0	1	0	0
FARSA	2193	broad.mit.edu	37	19	13039382	13039382	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:13039382C>A	ENST00000588025.1	-	7	952	c.812G>T	c.(811-813)cGc>cTc	p.R271L	FARSA_ENST00000423140.2_Missense_Mutation_p.R200L|FARSA_ENST00000314606.4_Missense_Mutation_p.R231L			Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	231					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	GAACTGGGAGCGGACCTTGAG	0.657000													25	13					5.60225e-13	6.13094e-13	1	1	0
POM121L12	285877	broad.mit.edu	37	7	53103682	53103682	+	Silent	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:53103682C>G	ENST00000408890.4	+	1	334	c.318C>G	c.(316-318)acC>acG	p.T106T		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	106										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCGGGGAGACCGCTCTGGGGC	0.711000													8	15					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77607281	77607281	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:77607281T>C	ENST00000461745.1	+	9	2318	c.1418T>C	c.(1417-1419)cTg>cCg	p.L473P	ROBO2_ENST00000487694.3_Missense_Mutation_p.L489P|ROBO2_ENST00000332191.8_Missense_Mutation_p.L473P	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	473	Ig-like C2-type 5.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CAAGGCACACTGCAGATTAAG	0.378000													55	24					0	0	1	0	0
CD200	4345	broad.mit.edu	37	3	112059796	112059796	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:112059796G>A	ENST00000315711.8	+	2	117	c.60G>A	c.(58-60)tgG>tgA	p.W20*	CD200_ENST00000383681.3_Intron|CD200_ENST00000473539.1_Nonsense_Mutation_p.W45*	NM_005944.5	NP_005935.4	P41217	OX2G_HUMAN	CD200 molecule	20					regulation of immune response	integral to plasma membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05)				GCCTGGTTTGGGTCATGGCAG	0.483000													16	57					0	0	1	0	0
NTSR1	4923	broad.mit.edu	37	20	61341220	61341220	+	Missense_Mutation	SNP	G	G	A	rs143560266	byFrequency	TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr20:61341220G>A	ENST00000370501.3	+	1	1032	c.661G>A	c.(661-663)Ggc>Agc	p.G221S		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	221						endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			GCACGCCGGCGGCCTGGTGTG	0.672000													30	15					0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33141522	33141522	+	Splice_Site	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:33141522C>T	ENST00000341947.2	-	35	2811	c.2584G>A	c.(2584-2586)Gga>Aga	p.G862R	COL11A2_ENST00000357486.1_Splice_Site_p.G841R|COL11A2_ENST00000374714.1_Splice_Site_p.G836R|COL11A2_ENST00000374713.1_Splice_Site_p.G815R|COL11A2_ENST00000361917.1_Splice_Site_p.G755R|COL11A2_ENST00000395197.1_Splice_Site_p.G802R|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374712.1_Splice_Site_p.G781R|COL11A2_ENST00000374708.4_Splice_Site_p.G776R	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	862	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						CCAGATGTTCCCTGTGGGGGG	0.642000													18	0					0	0	1	0	0
FBLN1	2192	broad.mit.edu	37	22	45972913	45972913	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr22:45972913A>G	ENST00000348697.2	+	19	2044	c.1897A>G	c.(1897-1899)Atc>Gtc	p.I633V	FBLN1_ENST00000327858.6_Missense_Mutation_p.I633V			P23142	FBLN1_HUMAN	fibulin 1	633					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GGCTAACATCATCTTCGACAT	0.572000													36	101					0	0	1	0	0
SLC20A1	6574	broad.mit.edu	37	2	113420544	113420544	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:113420544C>G	ENST00000272542.3	+	11	2521	c.1982C>G	c.(1981-1983)tCt>tGt	p.S661C		NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	661					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						GTCCCCATTTCTGGAGTTATC	0.458000													73	59					0	0	1	0	0
POU6F2	11281	broad.mit.edu	37	7	39247149	39247149	+	Silent	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:39247149C>A	ENST00000518318.2	+	4	483	c.441C>A	c.(439-441)acC>acA	p.T147T	POU6F2_ENST00000559001.1_Silent_p.T139T|POU6F2_ENST00000403058.1_Silent_p.T147T|POU6F2_ENST00000517348.1_3'UTR			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	147					central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						CGAATCTCACCAACATCCAAG	0.552000													17	26					3.52763e-06	3.64908e-06	1	1	0
NUDT16	131870	broad.mit.edu	37	3	131100709	131100709	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:131100709C>T	ENST00000521288.1	+	1	92	c.61C>T	c.(61-63)Cat>Tat	p.H21Y	NUDT16_ENST00000502852.1_Missense_Mutation_p.H21Y|NUDT16_ENST00000537561.1_Intron|NUDT16_ENST00000359850.3_5'UTR			Q96DE0	NUD16_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 16	21	Nudix hydrolase.					nucleolus|nucleoplasm	hydrolase activity|metal ion binding|RNA binding			large_intestine(1)|lung(6)	7						GGGCTGGCGTCATGCGTGCCA	0.721000													9	7					0	0	1	0	0
GRM4	2914	broad.mit.edu	37	6	34003490	34003490	+	Silent	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:34003490C>A	ENST00000538487.2	-	9	2840	c.2397G>T	c.(2395-2397)ctG>ctT	p.L799L	GRM4_ENST00000609222.1_Silent_p.L666L|GRM4_ENST00000374181.4_Silent_p.L799L|GRM4_ENST00000374177.3_Silent_p.L683L|GRM4_ENST00000455714.2_Silent_p.L659L|GRM4_ENST00000535756.1_Silent_p.L666L|GRM4_ENST00000544773.2_Silent_p.L630L|GRM4_ENST00000545715.1_5'UTR	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4						activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	GGATGAAGGCCAGCCAGACGA	0.622000													46	2					4.13886e-29	4.82502e-29	1	1	0
MRC2	9902	broad.mit.edu	37	17	60755974	60755974	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:60755974A>T	ENST00000303375.5	+	13	2564	c.2162A>T	c.(2161-2163)cAc>cTc	p.H721L		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	721	C-type lectin 4.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GAGGAGGAGCACTTTGTGGCC	0.647000													10	38					0	0	1	0	0
OR10R2	343406	broad.mit.edu	37	1	158450082	158450082	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:158450082G>C	ENST00000368152.1	+	1	415	c.415G>C	c.(415-417)Ggt>Cgt	p.G139R	RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					GGGTGTGATGGGTTATGATCG	0.488000													341	134					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113299303	113299303	+	Silent	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr8:113299303T>C	ENST00000297405.5	-	58	9565	c.9321A>G	c.(9319-9321)ccA>ccG	p.P3107P	CSMD3_ENST00000343508.3_Silent_p.P3067P|CSMD3_ENST00000352409.3_Silent_p.P3037P|CSMD3_ENST00000455883.2_Silent_p.P2938P	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3107	Sushi 22.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTTTGCACTCTGGCTGCCTTC	0.378000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			6	133					0	0	1	0	0
TUBB4A	10382	broad.mit.edu	37	19	6501571	6501571	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:6501571C>T	ENST00000264071.2	-	2	492	c.121G>A	c.(121-123)Gac>Aac	p.D41N	TUBB4A_ENST00000540257.1_Missense_Mutation_p.D41N|TUBB4A_ENST00000601152.1_Silent_p.V15V|TUBB4A_ENST00000596926.1_Missense_Mutation_p.D41N|TUBB4A_ENST00000598006.1_Silent_p.V26V			P04350	TBB4_HUMAN	tubulin, beta 4A class IVa	41					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity										AGTTGCAGGTCACTGTCCCCA	0.572000													127	36					0	0	1	0	0
IKZF1	10320	broad.mit.edu	37	7	50468169	50468169	+	Silent	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:50468169G>T	ENST00000331340.3	+	8	1559	c.1404G>T	c.(1402-1404)cgG>cgT	p.R468R	IKZF1_ENST00000343574.5_Silent_p.R381R|IKZF1_ENST00000359197.5_Silent_p.R426R|IKZF1_ENST00000346667.4_Silent_p.R238R|IKZF1_ENST00000439701.1_Silent_p.R426R|IKZF1_ENST00000349824.4_Silent_p.R325R|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000438033.1_Silent_p.R381R|IKZF1_ENST00000357364.4_Silent_p.R381R	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	468	Required for binding PP1CC (By similarity).				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				AACACTGCCGGGTGCTCTTCC	0.622000			"""D,T"""	BCL6	"""ALL, DLBCL"""								22	14					3.11337e-16	3.48213e-16	1	1	0
PDGFRA	5156	broad.mit.edu	37	4	55144549	55144549	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:55144549G>C	ENST00000257290.5	+	15	2354	c.2023G>C	c.(2023-2025)Gag>Cag	p.E675Q	FIP1L1_ENST00000507166.1_Missense_Mutation_p.E435Q	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	675	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)	CATCATCACAGAGTATTGCTT	0.433000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			17	26					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110410761	110410761	+	Silent	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr8:110410761C>G	ENST00000378402.5	+	12	1100	c.996C>G	c.(994-996)ctC>ctG	p.L332L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	332	IPT/TIG 3.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTCATATTCTCAAAACTGTAT	0.303000										HNSCC(38;0.096)			5	12					0	0	1	0	0
PCDHA8	56140	broad.mit.edu	37	5	140221688	140221688	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:140221688T>A	ENST00000531613.1	+	1	782	c.782T>A	c.(781-783)gTt>gAt	p.V261D	PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.V261D	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAACAACAGTTATCAAACTG	0.408000													27	38					0	0	1	0	0
KRTAP3-1	83896	broad.mit.edu	37	17	39165064	39165064	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:39165064G>A	ENST00000391588.1	-	1	302	c.263C>T	c.(262-264)cCt>cTt	p.P88L	KRTAP3-1_ENST00000581033.1_5'UTR	NM_031958.1	NP_114164.1	Q9BYR8	KRA31_HUMAN	keratin associated protein 3-1	88						keratin filament	structural molecule activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00043)				CTCACAGCCAGGCTGAACATA	0.582000													19	42					0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235964228	235964228	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:235964228C>T	ENST00000389794.3	-	9	4056	c.3882G>A	c.(3880-3882)gaG>gaA	p.E1294E	LYST_ENST00000536965.1_Silent_p.E1294E|LYST_ENST00000389793.2_Silent_p.E1294E			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1294					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TCAAAAAACTCTCAAATACAT	0.313000													7	23					0	0	1	0	0
HSPE1	3336	broad.mit.edu	37	2	198367982	198367982	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:198367982G>A	ENST00000233893.5	+	4	751	c.308G>A	c.(307-309)tGa>tAa	p.*103*	HSPE1_ENST00000409729.1_Silent_p.*48*|HSPE1_ENST00000465573.1_3'UTR|HSPE1_ENST00000409468.1_3'UTR|HSPE1-MOB4_ENST00000604458.1_Intron	NM_002157.2	NP_002148.1			heat shock 10kDa protein 1											lung(1)	1			Epithelial(96;0.225)			TACGTAGACTGAAATAAGTCA	0.328000													38	9					0	0	1	0	0
SOGA2	23255	broad.mit.edu	37	18	8784103	8784103	+	Silent	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr18:8784103G>T	ENST00000359865.3	+	6	1135	c.993G>T	c.(991-993)ggG>ggT	p.G331G	SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000306329.11_Silent_p.G691G|SOGA2_ENST00000517570.1_Silent_p.G331G|SOGA2_ENST00000400050.3_Silent_p.G331G	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	682																	CCGGGGGTGGGGCCCCCCTGC	0.642000													36	31					3.43241e-23	3.94578e-23	1	1	0
SLC2A3	6515	broad.mit.edu	37	12	8083210	8083210	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:8083210G>T	ENST00000075120.7	-	5	779	c.539C>A	c.(538-540)tCt>tAt	p.S180Y		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	180					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		TAGCTCTTCAGACCCAAGGAT	0.438000													29	25					6.53348e-20	7.45877e-20	1	1	0
TP53BP1	7158	broad.mit.edu	37	15	43712625	43712625	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr15:43712625T>G	ENST00000263801.3	-	21	4796	c.4544A>C	c.(4543-4545)tAt>tCt	p.Y1515S	TP53BP1_ENST00000382044.4_Missense_Mutation_p.Y1520S|TP53BP1_ENST00000382039.3_Missense_Mutation_p.Y1470S|TP53BP1_ENST00000450115.2_Missense_Mutation_p.Y1520S	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1515	Interaction with dimethylated histone H4.				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GAGCAATTTATACTTCCCAGC	0.488000								Other conserved DNA damage response genes					19	289					0	0	1	0	0
BEND7	222389	broad.mit.edu	37	10	13481367	13481367	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr10:13481367G>A	ENST00000341083.3	-	9	1508	c.1212C>T	c.(1210-1212)ctC>ctT	p.L404L	BEND7_ENST00000396900.2_Silent_p.L455L|BEND7_ENST00000486542.1_5'UTR	NM_152751.2	NP_689964.2	Q8N7W2	BEND7_HUMAN	BEN domain containing 7	455							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						TCAGGAGCACGAGATGCTGCT	0.527000													13	41					0	0	1	0	0
ZNF578	147660	broad.mit.edu	37	19	53014626	53014626	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:53014626C>G	ENST00000421239.2	+	6	1236	c.992C>G	c.(991-993)aCa>aGa	p.T331R	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	106					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		TCATCCCTTACATGCCATCAT	0.423000													3	132					0	0	1	0	0
TUBBP1	92755	broad.mit.edu	37	8	30210777	30210777	+	RNA	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr8:30210777C>T	ENST00000518096.1	+	0	1389																											TGAACGACCTCGTCTCTGAGT	0.587000													32	62					0	0	1	0	0
RTTN	25914	broad.mit.edu	37	18	67788894	67788894	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr18:67788894C>T	ENST00000255674.6	-	26	3712	c.3426G>A	c.(3424-3426)ctG>ctA	p.L1142L	RTTN_ENST00000454359.1_3'UTR|RTTN_ENST00000437017.1_Silent_p.L1142L	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1142							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				TATCTATTAGCAGTTTCTCAT	0.308000													3	1					0	0	1	0	0
SYNPO	11346	broad.mit.edu	37	5	150029566	150029566	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:150029566A>C	ENST00000394243.1	+	3	2835	c.2461A>C	c.(2461-2463)Atc>Ctc	p.I821L	SYNPO_ENST00000519664.1_Missense_Mutation_p.I577L|SYNPO_ENST00000522122.1_Missense_Mutation_p.I821L|SYNPO_ENST00000307662.4_Missense_Mutation_p.I577L	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	821	Pro-rich.				positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTCTCACCTATCAAGGAGCC	0.652000													46	52					0	0	1	0	0
MICAL3	57553	broad.mit.edu	37	22	18358253	18358253	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr22:18358253G>C	ENST00000429452.1	-	19	2817	c.2465C>G	c.(2464-2466)tCt>tGt	p.S822C	MICAL3_ENST00000400561.2_Intron|MICAL3_ENST00000207726.7_Intron|MICAL3_ENST00000414725.2_Intron|MICAL3_ENST00000383094.3_Intron|MICAL3_ENST00000441493.2_Intron|MICAL3_ENST00000585038.1_Missense_Mutation_p.S822C|MICAL3_ENST00000444520.1_Intron	NM_001136004.1	NP_001129476.1	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	698	LIM zinc-binding.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GGGGCGGGCAGAGGAGCGGAG	0.537000													3	9					0	0	1	0	0
TSPAN14	81619	broad.mit.edu	37	10	82269119	82269119	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr10:82269119G>A	ENST00000429989.3	+	5	565	c.342G>A	c.(340-342)ctG>ctA	p.L114L	TSPAN14_ENST00000372158.1_Silent_p.L114L|TSPAN14_ENST00000372156.1_Silent_p.L114L|TSPAN14_ENST00000481124.1_Intron|TSPAN14_ENST00000372164.3_Silent_p.L97L|TSPAN14_ENST00000341863.6_Intron	NM_030927.2	NP_112189.2	Q8NG11	TSN14_HUMAN	tetraspanin 14							integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7			Colorectal(32;0.229)			TGGCCTTCCTGTTCCAGGACT	0.592000													20	16					0	0	1	0	0
LPHN1	22859	broad.mit.edu	37	19	14263685	14263685	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:14263685A>T	ENST00000340736.6	-	20	3646	c.3349T>A	c.(3349-3351)Tgc>Agc	p.C1117S	LPHN1_ENST00000361434.3_Missense_Mutation_p.C1112S|CTB-55O6.12_ENST00000588658.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	1117					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CGGATGCAGCAGTAGGAGTGA	0.627000													41	109					0	0	1	0	0
SEC16B	89866	broad.mit.edu	37	1	177899756	177899756	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:177899756G>T	ENST00000308284.6	-	25	3124	c.3035C>A	c.(3034-3036)tCc>tAc	p.S1012Y	SEC16B_ENST00000495165.1_5'UTR|RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	1012					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						ACCAGGGTTGGAGCAGAGCTC	0.522000													5	22					0.27861	0.279881	1	1	0
SLCO1C1	53919	broad.mit.edu	37	12	20886039	20886039	+	Splice_Site	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:20886039G>C	ENST00000381552.1	+	10	1750		c.e10+1		SLCO1C1_ENST00000545604.1_Splice_Site|SLCO1C1_ENST00000540354.1_Splice_Site|SLCO1C1_ENST00000266509.2_Splice_Site|SLCO1C1_ENST00000545102.1_Splice_Site			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1						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)					CCTACCAAGGGTATGTTCCCT	0.363000													72	63					0	0	1	0	0
ZNF808	388558	broad.mit.edu	37	19	53057047	53057047	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:53057047G>C	ENST00000359798.4	+	5	1058	c.878G>C	c.(877-879)gGa>gCa	p.G293A		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	293					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		AAAGAGTGTGGAAAGTCCTTC	0.408000													4	180					0	0	1	0	0
LILRA4	23547	broad.mit.edu	37	19	54848849	54848849	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:54848849C>T	ENST00000291759.4	-	5	830	c.774G>A	c.(772-774)gaG>gaA	p.E258E		NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	258	Ig-like C2-type 3.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CATCGGCCCCCTCCTTGTACA	0.677000													34	1					0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48592691	48592691	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:48592691C>G	ENST00000358350.4	-	17	2096	c.1492G>C	c.(1492-1494)Gaa>Caa	p.E498Q	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507711.1_Missense_Mutation_p.E498Q|FRYL_ENST00000503238.1_Missense_Mutation_p.E498Q|FRYL_ENST00000506685.1_Missense_Mutation_p.E204Q|FRYL_ENST00000537810.1_Missense_Mutation_p.E498Q	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like	498					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						ACTTTTGCTTCTTCATCTGTC	0.299000													13	22					0	0	1	0	0
OR5M10	390167	broad.mit.edu	37	11	56345172	56345172	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:56345172A>G	ENST00000526812.2	-	1	91	c.26T>C	c.(25-27)gTg>gCg	p.V9A		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						GAATTCTGTCACTATGGTGTG	0.438000													38	59					0	0	1	0	0
B3GAT2	135152	broad.mit.edu	37	6	71665987	71665987	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:71665987C>T	ENST00000230053.6	-	1	754	c.146G>A	c.(145-147)gGc>gAc	p.G49D		NM_080742.2	NP_542780.1	Q9NPZ5	B3GA2_HUMAN	beta-1,3-glucuronyltransferase 2 (glucuronosyltransferase S)	49					carbohydrate biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						GAGTCGGGCGCCCCCGCGGCC	0.711000													5	2					0	0	1	0	0
KIAA0753	9851	broad.mit.edu	37	17	6493200	6493200	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:6493200C>T	ENST00000361413.3	-	18	3043	c.2685G>A	c.(2683-2685)atG>atA	p.M895I	KIAA0753_ENST00000575027.1_5'UTR|KIAA0753_ENST00000542606.1_Missense_Mutation_p.M596I|KIAA0753_ENST00000589033.1_Missense_Mutation_p.M351I|KIAA0753_ENST00000572370.1_Missense_Mutation_p.M596I	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	895						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		TGCTGTGCTGCATACCCGGTG	0.522000													24	30					0	0	1	0	0
FKBP15	23307	broad.mit.edu	37	9	115931551	115931551	+	Silent	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr9:115931551T>A	ENST00000238256.3	-	26	3555	c.3438A>T	c.(3436-3438)acA>acT	p.T1146T		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	1146					endocytosis|protein folding	axon|early endosome	actin binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						CTCCTGCAACTGTGGAACCTG	0.562000													11	32					0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121417379	121417379	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:121417379A>C	ENST00000393667.3	-	13	2101	c.1991T>G	c.(1990-1992)gTa>gGa	p.V664G	GOLGB1_ENST00000340645.5_Missense_Mutation_p.V659G	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	659					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTTCAATTCTACTCCAGCATC	0.393000													3	92					0	0	1	0	0
CRP	1401	broad.mit.edu	37	1	159683378	159683378	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:159683378G>A	ENST00000255030.5	-	2	715	c.612C>T	c.(610-612)aaC>aaT	p.N204N	CRP_ENST00000368111.1_Silent_p.N82N|CRP_ENST00000343919.2_Silent_p.N82N|CRP_ENST00000473196.1_5'UTR|CRP_ENST00000437342.1_Silent_p.N26N|CRP_ENST00000368112.1_Silent_p.N71N|CRP_ENST00000368110.1_Silent_p.N82N	NM_000567.2	NP_000558.2	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related	204	Pentaxin.				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	GTGCCCGCCAGTTCAGGACAT	0.532000													20	120					0	0	1	0	0
C11orf57	55216	broad.mit.edu	37	11	111951225	111951225	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:111951225T>C	ENST00000532163.1	+	4	942	c.176T>C	c.(175-177)cTt>cCt	p.L59P	C11orf57_ENST00000420986.2_Missense_Mutation_p.L88P|C11orf57_ENST00000530104.1_Missense_Mutation_p.L88P|C11orf57_ENST00000393047.3_Missense_Mutation_p.L88P|C11orf57_ENST00000280352.9_Missense_Mutation_p.L88P			Q6ZUT1	CK057_HUMAN	chromosome 11 open reading frame 57	88										autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12		all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-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;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521)		GATGATTTTCTTAAGGCTAAA	0.373000													9	31					0	0	1	0	0
UBE2A	7319	broad.mit.edu	37	X	118708895	118708895	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chrX:118708895G>A	ENST00000371558.2	+	2	250	c.76G>A	c.(76-78)Ggg>Agg	p.G26R	UBE2A_ENST00000346330.3_Missense_Mutation_p.G26R|UBE2A_ENST00000469205.1_3'UTR	NM_001282161.1|NM_003336.2|NM_181762.1	NP_001269090.1|NP_003327.2|NP_861427.1	P49459	UBE2A_HUMAN	ubiquitin-conjugating enzyme E2A	26					histone H2A ubiquitination|positive regulation of cell proliferation|postreplication repair|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|response to UV|ubiquitin-dependent protein catabolic process		ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity			haematopoietic_and_lymphoid_tissue(1)|lung(7)	8						CGGAGTCAGCGGGGCTCCGTC	0.657000								Rad6 pathway					61	3					0	0	1	0	0
ACD	65057	broad.mit.edu	37	16	67693135	67693135	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr16:67693135C>T	ENST00000219251.8	-	6	1070	c.739G>A	c.(739-741)Gca>Aca	p.A247T	ACD_ENST00000393919.4_Missense_Mutation_p.A250T	NM_001082486.1|NM_001082487.1|NM_022914.2	NP_001075955.1|NP_001075956.1|NP_075065.2	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	250	Interaction with POT1.				intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		ACAGTACCTGCATTGGACGAG	0.532000													67	4					0	0	1	0	0
ZZEF1	23140	broad.mit.edu	37	17	3919633	3919633	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:3919633T>C	ENST00000381638.2	-	49	8253	c.8129A>G	c.(8128-8130)aAc>aGc	p.N2710S		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2710							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GTTGGTGTTGTTGTTATACGG	0.612000													37	48					0	0	1	0	0
MTERF	7978	broad.mit.edu	37	7	91503775	91503775	+	Silent	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:91503775A>T	ENST00000419292.1	-	2	349	c.273T>A	c.(271-273)ctT>ctA	p.L91L	MTERF_ENST00000351870.3_Silent_p.L111L|MTERF_ENST00000406735.2_Silent_p.L91L			Q99551	MTERF_HUMAN	mitochondrial transcription termination factor	111					DNA geometric change|regulation of transcription, DNA-dependent|termination of mitochondrial transcription	mitochondrial nucleoid	double-stranded DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|skin(1)	14	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)			CTTTGGAAAGAAGGAACATCT	0.428000													93	40					0	0	1	0	0
OR52E6	390078	broad.mit.edu	37	11	5863035	5863035	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:5863035G>C	ENST00000329322.5	-	1	92	c.93C>G	c.(91-93)ttC>ttG	p.F31L	TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Missense_Mutation_p.F35L	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAAAAAAGGGAATCCAATCC	0.458000													13	35					0	0	1	0	0
STK32B	55351	broad.mit.edu	37	4	5468533	5468533	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:5468533G>A	ENST00000282908.5	+	10	1435	c.1013G>A	c.(1012-1014)aGg>aAg	p.R338K	STK32B_ENST00000508728.1_3'UTR|STK32B_ENST00000510398.1_Missense_Mutation_p.R291K|STK32B_ENST00000512636.1_Missense_Mutation_p.R261K	NM_018401.1	NP_060871.1	Q9NY57	ST32B_HUMAN	serine/threonine kinase 32B	338							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						AACAGATCCAGGGATGGCACA	0.517000													24	15					0	0	1	0	0
OR5R1	219479	broad.mit.edu	37	11	56185025	56185025	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:56185025G>A	ENST00000312253.1	-	1	683	c.684C>T	c.(682-684)atC>atT	p.I228I		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					GAGTAGAGCGGATCCTTAGGA	0.443000													29	41					0	0	1	0	0
T	6862	broad.mit.edu	37	6	166571949	166571949	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:166571949G>A	ENST00000296946.2	-	9	1630	c.1162C>T	c.(1162-1164)Cat>Tat	p.H388Y	T_ENST00000366871.3_Missense_Mutation_p.H330Y	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	388					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		GAGACCGGATGGGTGAGGGGT	0.716000									Chordoma, Familial Clustering of				14	12					0	0	1	0	0
SMCHD1	23347	broad.mit.edu	37	18	2688390	2688390	+	Splice_Site	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr18:2688390A>G	ENST00000320876.6	+	6	976		c.e6-1		SMCHD1_ENST00000261598.8_Splice_Site	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1						chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GTTTTATTTTAGTGATCATTC	0.358000													30	32					0	0	1	0	0
KIF27	55582	broad.mit.edu	37	9	86518142	86518142	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr9:86518142G>A	ENST00000297814.2	-	4	1434	c.1291C>T	c.(1291-1293)Cta>Tta	p.L431L	KIF27_ENST00000334204.2_Silent_p.L431L|KIF27_ENST00000413982.1_Silent_p.L431L	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	431					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TTTTCGTTTAGTCTGACAGTA	0.473000													10	21					0	0	1	0	0
LTBP4	8425	broad.mit.edu	37	19	41115484	41115484	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:41115484G>A	ENST00000308370.7	+	13	1676	c.1676G>A	c.(1675-1677)gGa>gAa	p.G559E	LTBP4_ENST00000545697.1_Missense_Mutation_p.G12E|LTBP4_ENST00000204005.9_Missense_Mutation_p.G522E|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000396819.3_Missense_Mutation_p.G492E	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	559	Cys-rich.|EGF-like 3.|Pro-rich.				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGCGGCCCAGGACGCTGCATT	0.667000													48	2					0	0	1	0	0
RXRG	6258	broad.mit.edu	37	1	165414106	165414106	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:165414106T>C	ENST00000359842.5	-	1	327	c.25A>G	c.(25-27)Atg>Gtg	p.M9V		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	9	Modulating (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	GGAAACTTCATGAAGTGAGAA	0.473000													51	108					0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38120039	38120039	+	Silent	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr22:38120039C>G	ENST00000406386.3	+	7	1731	c.1476C>G	c.(1474-1476)ccC>ccG	p.P492P		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	492					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CCTCCTCTCCCAGTAGAGCTA	0.582000													49	58					0	0	1	0	0
TRDN	10345	broad.mit.edu	37	6	123759226	123759226	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:123759226T>C	ENST00000334268.4	-	12	1350	c.1033A>G	c.(1033-1035)Att>Gtt	p.I345V	TRDN_ENST00000398178.3_Missense_Mutation_p.I345V|RP11-532N4.2_ENST00000587106.2_RNA			Q13061	TRDN_HUMAN	triadin	345					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		TCCACATCAATGGCAGTTTCC	0.338000													5	0					0	0	1	0	0
PAQR5	54852	broad.mit.edu	37	15	69677081	69677081	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr15:69677081G>A	ENST00000340965.3	+	5	913	c.245G>A	c.(244-246)tGg>tAg	p.W82*	PAQR5_ENST00000395407.2_Nonsense_Mutation_p.W82*|PAQR5_ENST00000561027.1_3'UTR|PAQR5_ENST00000561153.1_Nonsense_Mutation_p.W82*	NM_001104554.1	NP_001098024.1	Q9NXK6	MPRG_HUMAN	progestin and adipoQ receptor family member V	82					cell differentiation|multicellular organismal development|oogenesis	integral to membrane	receptor activity|steroid binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1)	11						AGCTACTCCTGGCCCATGCTT	0.527000													53	139					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22155896	22155896	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:22155896A>C	ENST00000397126.4	-	4	2088	c.1940T>G	c.(1939-1941)aTt>aGt	p.I647S	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGAGACCTTAATAAAGGTTTT	0.398000													3	63					0	0	1	0	0
CARD14	79092	broad.mit.edu	37	17	78179329	78179329	+	Splice_Site	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:78179329G>C	ENST00000573882.1	+	21	3105		c.e21-1		RP11-334C17.5_ENST00000572730.1_RNA|CARD14_ENST00000344227.2_Splice_Site|RP11-334C17.5_ENST00000576824.1_RNA			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14						activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GTCACCTGTAGAGTACTTGAG	0.632000													3	8					0	0	1	0	0
VWCE	220001	broad.mit.edu	37	11	61026170	61026170	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:61026170G>A	ENST00000335613.5	-	20	3231	c.2845C>T	c.(2845-2847)Cgg>Tgg	p.R949W	VWCE_ENST00000535710.1_Missense_Mutation_p.R414W	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	949						extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TCTTCCCCCCGAGAAGCCCCC	0.662000													15	27					0	0	1	0	0
CD19	930	broad.mit.edu	37	16	28947484	28947484	+	Silent	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr16:28947484G>C	ENST00000538922.1	+	6	1019	c.957G>C	c.(955-957)ctG>ctC	p.L319L	CD19_ENST00000324662.3_Silent_p.L319L|CD19_ENST00000567541.1_Silent_p.L319L	NM_001178098.1|NM_001770.5	NP_001171569.1|NP_001761.3	P15391	CD19_HUMAN	CD19 molecule	319					cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						CCCTGGTCCTGAGGAGGAAAA	0.577000													22	52					0	0	1	0	0
SH3GL1	6455	broad.mit.edu	37	19	4361711	4361711	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:4361711G>A	ENST00000269886.3	-	10	1171	c.993C>T	c.(991-993)gaC>gaT	p.D331D	SH3GL1_ENST00000598564.1_Silent_p.D267D|SH3GL1_ENST00000417295.2_Silent_p.D283D	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	331	SH3.				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		GCGTGATGACGTCGCCCTCAT	0.662000			T	MLL	AL								6	120					0	0	1	0	0
VWA1	64856	broad.mit.edu	37	1	1374720	1374720	+	Silent	SNP	G	G	T	rs17295944		TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:1374720G>T	ENST00000476993.1	+	3	969	c.891G>T	c.(889-891)ctG>ctT	p.L297L	VWA1_ENST00000338660.5_3'UTR|VWA1_ENST00000404702.3_Silent_p.L85L	NM_022834.4	NP_073745.2	Q6PCB0	VWA1_HUMAN	von Willebrand factor A domain containing 1	297	Fibronectin type-III 1.					basement membrane				NS(1)|breast(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	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)		CCCAGATCCTGCGGGTGCGCA	0.766000													3	0					0.004672	0.00475839	1	1	0
DSCAM	1826	broad.mit.edu	37	21	41416166	41416166	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr21:41416166G>T	ENST00000400454.1	-	31	5699	c.5222C>A	c.(5221-5223)aCa>aAa	p.T1741K		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1741					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GTTTCTCGCTGTGGGCCCAGC	0.602000													16	1					1.01871e-10	1.09848e-10	1	1	0
CTTN	2017	broad.mit.edu	37	11	70277332	70277332	+	Silent	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:70277332G>C	ENST00000346329.3	+	14	1409	c.1101G>C	c.(1099-1101)gtG>gtC	p.V367V	CTTN_ENST00000538675.1_Silent_p.V88V|CTTN_ENST00000376561.3_Silent_p.V367V|CTTN_ENST00000301843.8_Silent_p.V404V	NM_138565.2	NP_612632.1	Q14247	SRC8_HUMAN	cortactin	404						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		CGCCCCCTGTGTCGCCCGCAC	0.562000													71	82					0	0	1	0	0
ATP2A1	487	broad.mit.edu	37	16	28911981	28911981	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr16:28911981G>A	ENST00000395503.4	+	15	2028	c.1844G>A	c.(1843-1845)cGt>cAt	p.R615H	ATP2A1_ENST00000536376.1_Missense_Mutation_p.R490H|ATP2A1_ENST00000357084.3_Missense_Mutation_p.R615H	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	615					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CAGCTGTGCCGTGACGCCGGG	0.612000													50	42					0	0	1	0	0
PTK2B	2185	broad.mit.edu	37	8	27277583	27277583	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr8:27277583G>A	ENST00000397501.1	+	8	1184	c.376G>A	c.(376-378)Gag>Aag	p.E126K	PTK2B_ENST00000420218.2_Missense_Mutation_p.E126K|PTK2B_ENST00000338238.4_Missense_Mutation_p.E126K|PTK2B_ENST00000346049.5_Missense_Mutation_p.E126K|PTK2B_ENST00000544172.1_Missense_Mutation_p.E126K|PTK2B_ENST00000517339.1_Missense_Mutation_p.E126K	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	126	FERM.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		CGTGGAAGCCGAGTGGAGGTA	0.582000													29	26					0	0	1	0	0
DPP6	1804	broad.mit.edu	37	7	154598703	154598703	+	Splice_Site	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:154598703G>T	ENST00000404039.1	+	16	1942		c.e16-1		DPP6_ENST00000427557.1_Splice_Site|DPP6_ENST00000377770.3_Splice_Site|DPP6_ENST00000332007.3_Splice_Site	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6						cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TGCTCTTCCAGTGCCAACACG	0.597000													33	54					2.04263e-09	2.17071e-09	1	1	0
SGPP1	81537	broad.mit.edu	37	14	64153045	64153045	+	Silent	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:64153045C>A	ENST00000247225.6	-	3	1198	c.1104G>T	c.(1102-1104)cgG>cgT	p.R368R		NM_030791.2	NP_110418.1	Q9BX95	SGPP1_HUMAN	sphingosine-1-phosphate phosphatase 1	368						endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	10				OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)		CTATGAGGATCCGCAATATGG	0.378000													19	40					1.64113e-05	1.6897e-05	1	1	0
GLTP	51228	broad.mit.edu	37	12	110290444	110290444	+	Silent	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:110290444G>C	ENST00000318348.4	-	5	659	c.546C>G	c.(544-546)ctC>ctG	p.L182L	GLTP_ENST00000544393.1_Silent_p.L163L	NM_016433.3	NP_057517.1	Q9NZD2	GLTP_HUMAN	glycolipid transfer protein	182						cytoplasm	glycolipid binding|glycolipid transporter activity			endometrium(1)|kidney(1)|lung(1)|upper_aerodigestive_tract(1)	4		Lung NSC(355;2.38e-06)|Breast(359;0.00354)|Myeloproliferative disorder(1001;0.0122)		BRCA - Breast invasive adenocarcinoma(302;0.0025)		TGACTAGGAAGAGGCGGATCT	0.537000											OREG0022112	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	140	213					0	0	1	0	0
SRRM3	222183	broad.mit.edu	37	7	75890733	75890733	+	Splice_Site	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:75890733G>A	ENST00000388802.4	+	7	847		c.e7+1		SRRM3_ENST00000326382.8_Splice_Site					serine/arginine repetitive matrix 3											NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)	8						GCCGAGACAGGTACCCTTGCT	0.667000													16	1					0	0	1	0	0
PLA2G3	50487	broad.mit.edu	37	22	31532738	31532738	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr22:31532738A>G	ENST00000215885.3	-	6	1499	c.1247T>C	c.(1246-1248)aTg>aCg	p.M416T		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	416					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						CTCCCAAAGCATGTTGGTAAC	0.627000													5	157					0	0	1	0	0
PPM1F	9647	broad.mit.edu	37	22	22277628	22277628	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr22:22277628C>A	ENST00000407142.1	-	6	1758	c.698G>T	c.(697-699)gGc>gTc	p.G233V	PPM1F_ENST00000538191.1_Missense_Mutation_p.G297V|PPM1F_ENST00000263212.5_Missense_Mutation_p.G401V			P49593	PPM1F_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1F	401					apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		GTCGTGGGAGCCCCGCTCCCG	0.687000													35	35					1.7489e-18	1.98972e-18	1	1	0
TBCD	6904	broad.mit.edu	37	17	80772748	80772748	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:80772748G>T	ENST00000355528.4	+	13	1386	c.1256G>T	c.(1255-1257)gGa>gTa	p.G419V	TBCD_ENST00000397466.2_Missense_Mutation_p.G33V|TBCD_ENST00000539345.2_Missense_Mutation_p.G419V	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	419					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			TGGCATGGGGGATGTCTGGCG	0.602000													28	16					5.04308e-16	5.63087e-16	1	1	0
EIF3A	8661	broad.mit.edu	37	10	120802195	120802195	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr10:120802195C>G	ENST00000369144.3	-	19	2964	c.2837G>C	c.(2836-2838)aGa>aCa	p.R946T	EIF3A_ENST00000541549.1_Missense_Mutation_p.R912T	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	946	25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].|Asp-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity	p.R946T(1)		endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		AGAGGGCTCTCTATCTTCATC	0.567000													84	2					0	0	1	0	0
NBPF3	84224	broad.mit.edu	37	1	21795351	21795351	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:21795351C>G	ENST00000318220.6	+	6	1184	c.136C>G	c.(136-138)Caa>Gaa	p.Q46E	NBPF3_ENST00000454000.2_Intron|NBPF3_ENST00000342104.5_Missense_Mutation_p.Q102E|NBPF3_ENST00000318249.5_Missense_Mutation_p.Q102E			Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	102						cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCTTGTAACTCAAGTGGCCTA	0.453000											OREG0013205	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	0					0	0	1	0	0
SLC38A6	145389	broad.mit.edu	37	14	61486258	61486258	+	Splice_Site	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:61486258G>C	ENST00000354886.2	+	5	527		c.e5-1		SLC38A6_ENST00000456840.2_Splice_Site|SLC38A6_ENST00000267488.4_Splice_Site	NM_001172702.1	NP_001166173.1	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6						amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		TTCTTTTACAGTTGGTGGTGG	0.323000													20	86					0	0	1	0	0
CADM3	57863	broad.mit.edu	37	1	159166685	159166685	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:159166685C>T	ENST00000368125.4	+	7	944	c.787C>T	c.(787-789)Cag>Tag	p.Q263*	CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000368124.4_Nonsense_Mutation_p.Q297*|CADM3_ENST00000497636.1_3'UTR	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	263	Ig-like C2-type 2.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					CGACAGCCCCCAGCAGTACCT	0.527000													92	30					0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121747231	121747231	+	Silent	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:121747231T>C	ENST00000452319.1	+	14	3801	c.3741T>C	c.(3739-3741)taT>taC	p.Y1247Y	GLI2_ENST00000314490.11_Intron|GLI2_ENST00000361492.4_Silent_p.Y1247Y			P10070	GLI2_HUMAN	GLI family zinc finger 2	1247					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				ATGCCTGCTATGGCCAAGTCC	0.622000													37	24					0	0	1	0	0
WDR17	116966	broad.mit.edu	37	4	177089822	177089822	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:177089822G>A	ENST00000393643.2	+	24	3287	c.3035G>A	c.(3034-3036)aGg>aAg	p.R1012K	WDR17_ENST00000507824.2_Splice_Site|WDR17_ENST00000280190.4_Missense_Mutation_p.R1036K|WDR17_ENST00000508596.1_Splice_Site	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1036										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TACGTTAACAGGAATTTGGCA	0.338000													7	43					0	0	1	0	0
CHRM3	1131	broad.mit.edu	37	1	240072203	240072203	+	Silent	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:240072203C>G	ENST00000255380.4	+	5	2231	c.1452C>G	c.(1450-1452)gtC>gtG	p.V484V		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	484					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	TGTCCCTGGTCAAGGAGAAGA	0.517000													19	77					0	0	1	0	0
DKK3	27122	broad.mit.edu	37	11	12020244	12020244	+	Splice_Site	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:12020244T>A	ENST00000396505.2	-	4	672	c.434A>T	c.(433-435)cAc>cTc	p.H145L	DKK3_ENST00000525493.1_Splice_Site_p.H145L|DKK3_ENST00000527132.1_Intron|DKK3_ENST00000326932.4_Splice_Site_p.H145L|DKK3_ENST00000450094.2_Intron	NM_015881.5	NP_056965.3	Q9UBP4	DKK3_HUMAN	dickkopf WNT signaling pathway inhibitor 3	145					adrenal gland development|anatomical structure morphogenesis|negative regulation of aldosterone biosynthetic process|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cortisol biosynthetic process|negative regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	extracellular space				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1)	8				Epithelial(150;0.000502)		ACAACTTACGTGGCTCCTTCT	0.473000													32	1					0	0	1	0	0
LRRC52	440699	broad.mit.edu	37	1	165532930	165532930	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:165532930G>C	ENST00000294818.1	+	2	1101	c.811G>C	c.(811-813)Gtg>Ctg	p.V271L	RP11-280O1.2_ENST00000438275.1_RNA|RP11-280O1.2_ENST00000416424.1_RNA|RP11-280O1.2_ENST00000421273.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	271						integral to membrane				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					TGTGTGTGCTGTGCTCTACCA	0.582000													12	95					0	0	1	0	0
ALOX15	246	broad.mit.edu	37	17	4536454	4536454	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:4536454C>A	ENST00000570836.1	-	11	1501	c.1405G>T	c.(1405-1407)Gaa>Taa	p.E469*	ALOX15_ENST00000293761.3_Nonsense_Mutation_p.E469*|ALOX15_ENST00000574640.1_Nonsense_Mutation_p.E430*|ALOX15_ENST00000545513.1_Nonsense_Mutation_p.E491*			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	469	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	TAGATGATTTCCCAGAGCCGC	0.607000													9	72					0.0931896	0.0937569	1	1	0
UFL1	23376	broad.mit.edu	37	6	97000455	97000455	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:97000455C>A	ENST00000369278.4	+	18	2149	c.2083C>A	c.(2083-2085)Cag>Aag	p.Q695K		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	695					negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity										CCTGTTGTTTCAGTTTTCAAC	0.423000													22	20					9.39395e-14	1.03318e-13	1	1	0
MUC16	94025	broad.mit.edu	37	19	9058783	9058783	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:9058783T>C	ENST00000397910.4	-	3	28866	c.28663A>G	c.(28663-28665)Ata>Gta	p.I9555V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9557	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTGTCTCTTATAGAGGAAGAG	0.488000													39	8					0	0	1	0	0
INPP4B	8821	broad.mit.edu	37	4	143007320	143007320	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:143007320C>T	ENST00000513000.1	-	25	2897	c.2464G>A	c.(2464-2466)Gaa>Aaa	p.E822K	INPP4B_ENST00000509777.1_Missense_Mutation_p.E822K|INPP4B_ENST00000308502.4_Missense_Mutation_p.E822K|INPP4B_ENST00000262992.4_Missense_Mutation_p.E822K|INPP4B_ENST00000508116.1_Missense_Mutation_p.E822K	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	822					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					CACATAATTTCTACATTCTTT	0.358000													11	8					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7646490	7646490	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:7646490A>G	ENST00000570791.1	+	14	2265	c.2180A>G	c.(2179-2181)tAt>tGt	p.Y727C	DNAH2_ENST00000572933.1_Intron|DNAH2_ENST00000389173.2_Intron|DNAH2_ENST00000082259.3_Missense_Mutation_p.Y727C			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3436	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCTTTTCCCTATACTCCCCTT	0.493000													9	6					0	0	1	0	0
TMEM260	54916	broad.mit.edu	37	14	57083924	57083924	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:57083924T>C	ENST00000261556.6	+	9	1087	c.965T>C	c.(964-966)gTa>gCa	p.V322A	TMEM260_ENST00000536419.1_5'UTR|TMEM260_ENST00000553335.1_3'UTR|TMEM260_ENST00000538838.1_Missense_Mutation_p.V322A	NM_017799.3	NP_060269.3			transmembrane protein 260																		CCATCATTAGTATGGCTTTTT	0.284000													9	29					0	0	1	0	0
RABGGTA	5875	broad.mit.edu	37	14	24738749	24738749	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:24738749G>A	ENST00000399409.3	-	5	1062	c.579C>T	c.(577-579)ccC>ccT	p.P193P	RABGGTA_ENST00000559586.1_5'UTR|RABGGTA_ENST00000216840.6_Silent_p.P193P|RABGGTA_ENST00000560777.1_5'UTR	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	193					visual perception		Rab geranylgeranyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		AATCCGGCTGGGGGTGCAGCT	0.592000													40	156					0	0	1	0	0
ATP2A1	487	broad.mit.edu	37	16	28911941	28911941	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr16:28911941C>A	ENST00000395503.4	+	15	1988	c.1804C>A	c.(1804-1806)Cct>Act	p.P602T	ATP2A1_ENST00000536376.1_Missense_Mutation_p.P477T|ATP2A1_ENST00000357084.3_Missense_Mutation_p.P602T	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	602					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CATGCTGGACCCTCCGCGCAA	0.612000													69	46					2.78669e-64	3.32491e-64	1	1	0
ETV1	2115	broad.mit.edu	37	7	14026281	14026281	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:14026281C>G	ENST00000343495.5	-	5	901	c.163G>C	c.(163-165)Gaa>Caa	p.E55Q	ETV1_ENST00000242066.5_Missense_Mutation_p.E55Q|ETV1_ENST00000405192.2_Missense_Mutation_p.E55Q|ETV1_ENST00000405358.4_Missense_Mutation_p.E69Q|ETV1_ENST00000405218.2_Missense_Mutation_p.E55Q|ETV1_ENST00000430479.1_Missense_Mutation_p.E55Q|ETV1_ENST00000403685.1_Missense_Mutation_p.E55Q			P50549	ETV1_HUMAN	ets variant 1	55					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						AGCCATGTTTCCTGTAATTGA	0.323000			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""								6	30					0	0	1	0	0
DOPEY1	23033	broad.mit.edu	37	6	83835289	83835289	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:83835289G>A	ENST00000349129.2	+	15	1816	c.1556G>A	c.(1555-1557)aGc>aAc	p.S519N	DOPEY1_ENST00000369739.3_Missense_Mutation_p.S510N|DOPEY1_ENST00000237163.5_Missense_Mutation_p.S500N	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	519					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GCCTTGACAAGCCATCTCCAG	0.418000													43	82					0	0	1	0	0
SLC9A5	6553	broad.mit.edu	37	16	67290524	67290524	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr16:67290524C>A	ENST00000299798.11	+	6	1129	c.1064C>A	c.(1063-1065)tCt>tAt	p.S355Y		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	355					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		GTGGACTCTTCTAAGTGGGCC	0.537000													56	3					5.41189e-41	6.39939e-41	1	1	0
SCN2A	6326	broad.mit.edu	37	2	166245291	166245291	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:166245291G>C	ENST00000375437.2	+	27	5265	c.4975G>C	c.(4975-4977)Gcg>Ccg	p.A1659P	SCN2A_ENST00000375427.2_Missense_Mutation_p.A1659P|SCN2A_ENST00000283256.6_Missense_Mutation_p.A1659P|SCN2A_ENST00000357398.3_Missense_Mutation_p.A1659P	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1659					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)	GTCCCTTCCTGCGTTGTTTAA	0.498000													13	94					0	0	1	0	0
SMARCD3	6604	broad.mit.edu	37	7	150939810	150939810	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:150939810C>T	ENST00000392811.2	-	5	888	c.414G>A	c.(412-414)atG>atA	p.M138I	SMARCD3_ENST00000262188.8_Missense_Mutation_p.M151I|SMARCD3_ENST00000356800.2_Missense_Mutation_p.M138I|SMARCD3_ENST00000477169.1_5'UTR	NM_003078.3	NP_003069.2	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3	151					cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAGGCACCTTCATGGGCCTCT	0.577000													54	127					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54306784	54306784	+	Missense_Mutation	SNP	G	G	C	rs142320070	by1000genomes	TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr15:54306784G>C	ENST00000545554.1	+	1	1684	c.1684G>C	c.(1684-1686)Gaa>Caa	p.E562Q	UNC13C_ENST00000537900.1_Missense_Mutation_p.E562Q|UNC13C_ENST00000260323.11_Missense_Mutation_p.E562Q			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	562					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)		GTCTTACTCAGAAGATTTTTC	0.423000													12	4					0	0	1	0	0
TXNDC11	51061	broad.mit.edu	37	16	11794368	11794368	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr16:11794368T>A	ENST00000356957.3	-	7	1034	c.927A>T	c.(925-927)aaA>aaT	p.K309N	TXNDC11_ENST00000283033.5_Missense_Mutation_p.K282N			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	309					cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						AGGATACCAGTTTCGCAAGAT	0.348000													45	26					0	0	1	0	0
GDF11	10220	broad.mit.edu	37	12	56143318	56143318	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:56143318C>G	ENST00000257868.5	+	3	913	c.876C>G	c.(874-876)aaC>aaG	p.N292K		NM_005811.3	NP_005802.1	O95390	GDF11_HUMAN	growth differentiation factor 11	292					growth|mesoderm development|skeletal system development	extracellular space	cytokine activity|growth factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1)	12						TCCTAGAGAACACAAAACGTT	0.547000													25	74					0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37745551	37745551	+	Silent	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr9:37745551A>T	ENST00000539465.1	+	16	4115	c.3522A>T	c.(3520-3522)ccA>ccT	p.P1174P	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Silent_p.P1174P			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1174						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)		AGCAGATCCCACCACATCCCC	0.478000													6	25					0	0	1	0	0
CENPQ	55166	broad.mit.edu	37	6	49448703	49448703	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:49448703A>T	ENST00000335783.3	+	6	481	c.387A>T	c.(385-387)aaA>aaT	p.K129N		NM_018132.3	NP_060602.2	Q7L2Z9	CENPQ_HUMAN	centromere protein Q	129					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	chromosome, centromeric region|cytosol|nucleoplasm				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(4)|ovary(2)|prostate(1)	11	Lung NSC(77;0.0128)					TCCCTCCCAAAAAGATGGAAG	0.303000													13	26					0	0	1	0	0
HECTD4	283450	broad.mit.edu	37	12	112720937	112720937	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:112720937T>C	ENST00000550722.1	-	8	1468	c.1073A>G	c.(1072-1074)aAc>aGc	p.N358S	HECTD4_ENST00000430131.2_Missense_Mutation_p.N108S|HECTD4_ENST00000377560.5_Missense_Mutation_p.N358S	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		TTTCAGTGTGTTGGAGATGGT	0.478000													27	18					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90101230	90101230	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:90101230G>C	ENST00000405460.2	+	72	14887	c.14791G>C	c.(14791-14793)Gaa>Caa	p.E4931Q	GPR98_ENST00000425867.2_Missense_Mutation_p.E592Q	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4931					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)		TCCTGGGTTAGAAATTCCTGA	0.453000													38	2					0	0	1	0	0
DNAJB7	150353	broad.mit.edu	37	22	41257777	41257777	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr22:41257777G>A	ENST00000307221.4	-	1	353	c.222C>T	c.(220-222)aaC>aaT	p.N74N	XPNPEP3_ENST00000482652.1_3'UTR|XPNPEP3_ENST00000357137.4_Intron|XPNPEP3_ENST00000414396.1_Intron|XPNPEP3_ENST00000541156.1_Intron	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7	74					protein folding		heat shock protein binding|unfolded protein binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						TTCCACCTCCGTTTAATCCTT	0.358000													66	1					0	0	1	0	0
VWCE	220001	broad.mit.edu	37	11	61026169	61026169	+	Missense_Mutation	SNP	C	C	G	rs143205377	byFrequency	TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:61026169C>G	ENST00000335613.5	-	20	3232	c.2846G>C	c.(2845-2847)cGg>cCg	p.R949P	VWCE_ENST00000535710.1_Missense_Mutation_p.R414P	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	949						extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						CTCTTCCCCCCGAGAAGCCCC	0.662000													15	27					0	0	1	0	0
CIT	11113	broad.mit.edu	37	12	120195199	120195199	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:120195199C>T	ENST00000392521.2	-	22	2737	c.2682G>A	c.(2680-2682)ctG>ctA	p.L894L	CIT_ENST00000261833.7_Silent_p.L852L|CIT_ENST00000537607.1_5'UTR	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	852					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)		TCTCCAGTTCCAGCAGCCGAT	0.557000													189	308					0	0	1	0	0
CLPX	10845	broad.mit.edu	37	15	65459104	65459104	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr15:65459104C>A	ENST00000300107.3	-	4	566	c.378G>T	c.(376-378)aaG>aaT	p.K126N		NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit	126					protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						ACTTTTCACACTTGACAAAAC	0.338000													5	17					0.0215528	0.021717	1	1	0
CELSR3	1951	broad.mit.edu	37	3	48699092	48699092	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:48699092G>A	ENST00000544264.1	-	1	1256	c.976C>T	c.(976-978)Ccg>Tcg	p.P326S	CELSR3_ENST00000164024.4_Missense_Mutation_p.P326S			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	326	Cadherin 1.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TTGTACTGCGGAAACTGCGGG	0.701000													25	80					0	0	1	0	0
CAD	790	broad.mit.edu	37	2	27448663	27448663	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:27448663A>G	ENST00000264705.4	+	12	1873	c.1711A>G	c.(1711-1713)Agg>Ggg	p.R571G	CAD_ENST00000403525.1_Missense_Mutation_p.R571G	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	571	ATP-grasp 1.|CPSase (Carbamoyl-phosphate synthase).|CPSase A.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	TGCCTCTAACAGGGAGGAGCT	0.597000													42	18					0	0	1	0	0
FOXG1	2290	broad.mit.edu	37	14	29237880	29237880	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:29237880G>A	ENST00000382535.3	+	2	1764	c.1395G>A	c.(1393-1395)acG>acA	p.T465T	FOXG1_ENST00000313071.4_Silent_p.T465T			P55316	FOXG1_HUMAN	forkhead box G1	465					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	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			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		GTTTTACGACGGGACTGTCTG	0.547000													41	50					0	0	1	0	0
TBC1D7	51256	broad.mit.edu	37	6	13327121	13327121	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:13327121C>G	ENST00000607658.1	-	2	160	c.10G>C	c.(10-12)Gac>Cac	p.D4H	TBC1D7_ENST00000607532.1_5'UTR|TBC1D7_ENST00000343141.4_Missense_Mutation_p.D4H|TBC1D7_ENST00000379307.2_Missense_Mutation_p.D4H|TBC1D7_ENST00000379300.3_Missense_Mutation_p.D4H|TBC1D7_ENST00000356436.4_Missense_Mutation_p.D4H			Q9P0N9	TBCD7_HUMAN	TBC1 domain family, member 7	4					positive regulation of protein ubiquitination	cytoplasmic membrane-bounded vesicle	protein binding|Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)			CTCTGAGAGTCCTCAGTCATA	0.383000													4	22					0	0	1	0	0
PIGB	9488	broad.mit.edu	37	15	55647054	55647054	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr15:55647054A>G	ENST00000164305.5	+	11	1687	c.1396A>G	c.(1396-1398)Aaa>Gaa	p.K466E	PIGB_ENST00000539642.1_Missense_Mutation_p.K271E	NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class B	466					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		CCTGACTGGAAAAAGTCATTA	0.378000													10	5					0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197183282	197183282	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:197183282T>A	ENST00000260983.3	-	9	2514	c.2332A>T	c.(2332-2334)Act>Tct	p.T778S	HECW2_ENST00000409111.1_Missense_Mutation_p.T422S	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2		Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CTACCTCCAGTAGCGCCCTCC	0.592000													24	19					0	0	1	0	0
LDB2	9079	broad.mit.edu	37	4	16900017	16900017	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:16900017C>T	ENST00000502640.1	-	1	240	c.92G>A	c.(91-93)cGa>cAa	p.R31Q	LDB2_ENST00000304523.5_Missense_Mutation_p.R31Q|LDB2_ENST00000515064.1_Missense_Mutation_p.R31Q|LDB2_ENST00000441778.2_Missense_Mutation_p.R31Q			O43679	LDB2_HUMAN	LIM domain binding 2	31							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						CTCATAGATTCGGTACTCTGG	0.453000													17	49					0	0	1	0	0
GLRX2	51022	broad.mit.edu	37	1	193074747	193074747	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:193074747C>T	ENST00000367440.3	-	1	497	c.22G>A	c.(22-24)Gtg>Atg	p.V8M	GLRX2_ENST00000472197.1_Splice_Site	NM_001243399.1|NM_016066.4	NP_001230328.1|NP_057150.2	Q9NS18	GLRX2_HUMAN	glutaredoxin 2	0					apoptosis|cell differentiation|cell redox homeostasis|DNA protection|electron transport chain|glutathione metabolic process|protein thiol-disulfide exchange|regulation of signal transduction|regulation of transcription, DNA-dependent|response to hydrogen peroxide|response to organic substance|response to redox state|response to temperature stimulus|transport	mitochondrion|nucleus	2 iron, 2 sulfur cluster binding|arsenate reductase (glutaredoxin) activity|electron carrier activity|glutathione disulfide oxidoreductase activity|metal ion binding|protein disulfide oxidoreductase activity			breast(1)|large_intestine(1)|lung(3)	5					Glutathione(DB00143)	AAGCGGCTCACTTGCTTATCT	0.587000													3	18					0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51205873	51205873	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:51205873C>T	ENST00000293441.1	-	11	1616	c.1598G>A	c.(1597-1599)gGc>gAc	p.G533D	SHANK1_ENST00000359082.3_Missense_Mutation_p.G533D|SHANK1_ENST00000391814.1_Missense_Mutation_p.G533D	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	533					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GCCCCCTGAGCCCCCCGTGCC	0.716000													6	0					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10951423	10951423	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr21:10951423A>T	ENST00000298232.7	-	9	602	c.235T>A	c.(235-237)Ttt>Att	p.F79I	TPTE_ENST00000342420.5_Missense_Mutation_p.F59I|TPTE_ENST00000361285.4_Missense_Mutation_p.F97I|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	97					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)		AAAACTCCAAATAGTCTAaaa	0.338000													3	42					0	0	1	0	0
GHRHR	2692	broad.mit.edu	37	7	31014105	31014105	+	Splice_Site	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:31014105G>A	ENST00000409904.3	+	5	878		c.e5+1		GHRHR_ENST00000461424.1_Splice_Site|GHRHR_ENST00000326139.2_Splice_Site|GHRHR_ENST00000409316.1_Splice_Site			Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor						activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	AGGACATCGCGTGAGTCGGAG	0.617000													25	71					0	0	1	0	0
RGS12	6002	broad.mit.edu	37	4	3424264	3424264	+	Silent	SNP	G	G	A	rs139780010		TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:3424264G>A	ENST00000336727.3	+	11	3904	c.3000G>A	c.(2998-3000)gcG>gcA	p.A1000A	RGS12_ENST00000538395.1_Silent_p.A342A|RGS12_ENST00000382788.3_Silent_p.A1000A|RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000306648.7_Silent_p.A398A|RGS12_ENST00000344733.5_Silent_p.A1000A|RGS12_ENST00000338806.4_Silent_p.A352A	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1000	RBD 1.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TCAACGGGGCGGCCGCGGACC	0.672000													13	44					0	0	1	0	0
MTHFD1	4522	broad.mit.edu	37	14	64898301	64898301	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:64898301C>T	ENST00000545908.1	+	14	1760	c.1531C>T	c.(1531-1533)Ctc>Ttc	p.L511F	MTHFD1_ENST00000216605.8_Missense_Mutation_p.L455F|CTD-2555O16.2_ENST00000556640.1_RNA			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	455	Formyltetrahydrofolate synthetase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	AGCTAATAACCTCGTTGCTGC	0.463000													40	28					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49420164	49420164	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:49420164C>G	ENST00000301067.7	-	48	15584	c.15585G>C	c.(15583-15585)caG>caC	p.Q5195H		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		AGTCAGCCATCTGGTGAGGCA	0.587000													19	26					0	0	1	0	0
MAST1	22983	broad.mit.edu	37	19	12984213	12984213	+	Silent	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:12984213G>T	ENST00000251472.4	+	25	3378	c.3339G>T	c.(3337-3339)tcG>tcT	p.S1113S		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	1113					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CGCTGTCGTCGCTGAACCGCT	0.667000													17	14					1.55795e-14	1.72208e-14	1	1	0
NT5C1A	84618	broad.mit.edu	37	1	40131301	40131301	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:40131301G>A	ENST00000235628.1	-	3	324	c.325C>T	c.(325-327)Cgg>Tgg	p.R109W		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	109					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TCCCGCAGCCGCCTGTTCACG	0.562000													27	1					0	0	1	0	0
CHRAC1	54108	broad.mit.edu	37	8	141524510	141524510	+	Missense_Mutation	SNP	G	G	T	rs143839289		TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr8:141524510G>T	ENST00000220913.5	+	2	392	c.190G>T	c.(190-192)Ggc>Tgc	p.G64C	CHRAC1_ENST00000519533.1_Intron	NM_017444.5	NP_059140.1	Q9NRG0	CHRC1_HUMAN	chromatin accessibility complex 1	64					chromatin remodeling	chromatin accessibility complex|epsilon DNA polymerase complex	DNA-directed DNA polymerase activity|sequence-specific DNA binding			ovary(2)	2	all_cancers(97;5.52e-16)|all_epithelial(106;1.22e-13)|Lung NSC(106;4.09e-06)|all_lung(105;6e-06)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.107)			CTACAGACACGGCAGTGGAAA	0.383000													19	11					7.41945e-09	7.82178e-09	1	1	0
PRKCSH	5589	broad.mit.edu	37	19	11558507	11558507	+	Splice_Site	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:11558507G>A	ENST00000252455.2	+	12	1344		c.e12-1		PRKCSH_ENST00000587327.1_Intron|PRKCSH_ENST00000412601.1_Intron|PRKCSH_ENST00000591462.1_Intron|PRKCSH_ENST00000589838.1_Splice_Site|PRKCSH_ENST00000592741.1_Splice_Site	NM_002743.2	NP_002734.2	P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H						innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						CCCTGCCCCAGGAGGCCCCAC	0.667000													7	4					0	0	1	0	0
SPPL2C	162540	broad.mit.edu	37	17	43922946	43922946	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:43922946G>A	ENST00000329196.5	+	1	691	c.674G>A	c.(673-675)gGt>gAt	p.G225D	MAPT-AS1_ENST00000579244.1_RNA|MAPT-AS1_ENST00000579599.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	IMP5_HUMAN	signal peptide peptidase like 2C	225						integral to membrane	aspartic-type endopeptidase activity										GGGGGGTCTGGTGGTCACCAT	0.652000													9	12					0	0	1	0	0
KRT85	3891	broad.mit.edu	37	12	52758771	52758771	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:52758771C>T	ENST00000257901.3	-	2	679	c.604G>A	c.(604-606)Gag>Aag	p.E202K		NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	202	Coil 1B.|Rod.				epidermis development	keratin filament	protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCCAGCACCTCCTGCACATGG	0.622000													99	157					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40354440	40354440	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:40354440C>T	ENST00000221347.6	-	35	16036	c.16029G>A	c.(16027-16029)aaG>aaA	p.K5343K		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5343	VWFD 13.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGACCCCTGCCTTCTGGCGGA	0.572000													19	1					0	0	1	0	0
FAM86EP	348926	broad.mit.edu	37	4	3952915	3952915	+	RNA	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:3952915G>C	ENST00000281228.8	-	0	192				FAM86EP_ENST00000313946.8_RNA																							GACTGACGGCGGGTGCTTCAC	0.532000													4	68					0	0	1	0	0
MFAP5	8076	broad.mit.edu	37	12	8800748	8800748	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:8800748G>A	ENST00000359478.2	-	10	648	c.461C>T	c.(460-462)tCc>tTc	p.S154F	MFAP5_ENST00000433590.2_Missense_Mutation_p.S129F|MFAP5_ENST00000535336.1_Missense_Mutation_p.S90F|MFAP5_ENST00000396549.2_Missense_Mutation_p.S144F|MFAP5_ENST00000543369.1_Missense_Mutation_p.S132F|MFAP5_ENST00000540087.1_Missense_Mutation_p.S144F	NM_003480.2	NP_003471.1	Q13361	MFAP5_HUMAN	microfibrillar associated protein 5	154						microfibril	extracellular matrix structural constituent			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1)	13	Lung SC(5;0.184)					GAAGTAATTGGAGCGACGGAG	0.453000													26	29					0	0	1	0	0
MUC3A	4584	broad.mit.edu	37	7	100609620	100609620	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:100609620G>A	ENST00000319509.7	+	8	2352	c.2352G>A	c.(2350-2352)ctG>ctA	p.L784L	RP11-395B7.2_ENST00000420080.1_RNA					mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						TCGGGGGCCTGACGGCCGGCG	0.756000													13	9					0	0	1	0	0
HTRA3	94031	broad.mit.edu	37	4	8288388	8288388	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:8288388A>C	ENST00000307358.2	+	3	790	c.586A>C	c.(586-588)Aac>Cac	p.N196H	HTRA3_ENST00000382512.3_Missense_Mutation_p.N196H	NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	196	Serine protease.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						GGTGTCCAGCAACAGTGCTGC	0.592000													5	121					0	0	1	0	0
CADPS2	93664	broad.mit.edu	37	7	122377026	122377026	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:122377026C>T	ENST00000334010.7	-	2	857	c.436G>A	c.(436-438)Gtt>Att	p.V146I	CADPS2_ENST00000449022.2_Missense_Mutation_p.V146I|CADPS2_ENST00000412584.2_Missense_Mutation_p.V146I|CADPS2_ENST00000313070.7_Missense_Mutation_p.V146I	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	146					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TAACTCCGAACTGCGTTGCAA	0.378000													10	16					0	0	1	0	0
IGHV4-61	28391	broad.mit.edu	37	14	107095471	107095471	+	RNA	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:107095471G>C	ENST00000390630.2	-	0	147																											CCTGGGATCAGAGGCACCTCC	0.602000													22	6					0	0	1	0	0
EYA4	2070	broad.mit.edu	37	6	133769307	133769307	+	Silent	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:133769307T>A	ENST00000367895.5	+	5	731	c.267T>A	c.(265-267)tcT>tcA	p.S89S	EYA4_ENST00000431403.2_Silent_p.S89S|EYA4_ENST00000430974.2_Intron|EYA4_ENST00000452339.2_Intron|EYA4_ENST00000531901.1_Silent_p.S89S|EYA4_ENST00000525849.1_Intron|EYA4_ENST00000355167.3_Silent_p.S89S|EYA4_ENST00000355286.6_Intron	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	89					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		ACACCCCCTCTTCTGCAACAA	0.448000													28	23					0	0	1	0	0
PCDH1	5097	broad.mit.edu	37	5	141243228	141243228	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:141243228T>C	ENST00000287008.3	-	3	2815	c.2668A>G	c.(2668-2670)Aag>Gag	p.K890E	PCDH1_ENST00000536585.1_Missense_Mutation_p.K868E|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000394536.3_Missense_Mutation_p.K890E|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000456271.1_Missense_Mutation_p.K878E	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	890					cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		GTCTCCTTCTTACCAGCCTGG	0.587000													92	97					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14542642	14542642	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr18:14542642C>G	ENST00000358970.5	-	1	503	c.504G>C	c.(502-504)aaG>aaC	p.K168N	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	168										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GCTTGTCCCTCTTGTTCATGT	0.597000													102	114					0	0	1	0	0
BAZ2B	29994	broad.mit.edu	37	2	160252303	160252303	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:160252303T>C	ENST00000392783.2	-	20	3547	c.3052A>G	c.(3052-3054)Atg>Gtg	p.M1018V	AC008277.1_ENST00000594921.1_RNA|AC008277.1_ENST00000420020.1_RNA|BAZ2B_ENST00000392782.1_Missense_Mutation_p.M982V|AC008277.1_ENST00000608714.1_RNA|BAZ2B_ENST00000343439.5_Missense_Mutation_p.M918V|BAZ2B_ENST00000355831.2_Missense_Mutation_p.M984V	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1018	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CGAGCTTCCATAGCTTTCATA	0.338000													5	12					0	0	1	0	0
DAPK1	1612	broad.mit.edu	37	9	90266558	90266558	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr9:90266558C>T	ENST00000469640.2	+	17	2118	c.1743C>T	c.(1741-1743)ctC>ctT	p.L581L	DAPK1_ENST00000491893.1_Silent_p.L581L|DAPK1_ENST00000472284.1_Silent_p.L581L|DAPK1_ENST00000358077.5_Silent_p.L581L|DAPK1_ENST00000408954.3_Silent_p.L581L			P53355	DAPK1_HUMAN	death-associated protein kinase 1	581					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						ATACTCCCCTCCATGTGGCAT	0.493000									Chronic Lymphocytic Leukemia, Familial Clustering of				4	66					0	0	1	0	0
STAG1	10274	broad.mit.edu	37	3	136196190	136196190	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:136196190T>A	ENST00000383202.2	-	10	1223	c.967A>T	c.(967-969)Agt>Tgt	p.S323C	STAG1_ENST00000236698.5_Missense_Mutation_p.S323C|STAG1_ENST00000434713.2_Missense_Mutation_p.S97C	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	323	SCD.				cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						AAGGCATCACTATACATTTTC	0.343000													57	29					0	0	1	0	0
MRPL37	51253	broad.mit.edu	37	1	54670971	54670971	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:54670971G>A	ENST00000605337.1	+	3	582	c.534G>A	c.(532-534)ccG>ccA	p.P178P	MRPL37_ENST00000487096.1_3'UTR|MRPL37_ENST00000336230.6_Intron|MRPL37_ENST00000360840.5_Silent_p.P178P			Q9BZE1	RM37_HUMAN	mitochondrial ribosomal protein L37	178					translation	mitochondrial ribosome	structural constituent of ribosome			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						CTTCAAGCCCGGTCATCGTGG	0.448000													16	3					0	0	1	0	0
CX3CL1	6376	broad.mit.edu	37	16	57416799	57416799	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr16:57416799G>T	ENST00000565912.1	+	2	3641	c.935G>T	c.(934-936)gGc>gTc	p.G312V	CX3CL1_ENST00000006053.6_Missense_Mutation_p.G350V|CX3CL1_ENST00000563383.1_Missense_Mutation_p.G356V			P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	350	Mucin-like stalk.				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GCCTTCCTTGGCCTCCTCTTC	0.667000													14	2					0.000132079	0.000135355	1	1	0
ADAM23	8745	broad.mit.edu	37	2	207459510	207459510	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:207459510G>C	ENST00000264377.3	+	23	2456	c.2128G>C	c.(2128-2130)Gat>Cat	p.D710H	ADAM23_ENST00000374415.3_Missense_Mutation_p.D710H|ADAM23_ENST00000374416.1_Missense_Mutation_p.D710H	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	710					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.D710N(2)		NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		CTATGTAGAAGATGGAACGCC	0.428000													42	25					0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38119892	38119892	+	Silent	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr22:38119892C>G	ENST00000406386.3	+	7	1584	c.1329C>G	c.(1327-1329)ccC>ccG	p.P443P		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	443					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CCTCCTCTCCCAGTAGAGCTA	0.582000													5	111					0	0	1	0	0
POP1	10940	broad.mit.edu	37	8	99140614	99140614	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr8:99140614G>T	ENST00000401707.2	+	4	413	c.332G>T	c.(331-333)cGa>cTa	p.R111L	POP1_ENST00000349693.3_Missense_Mutation_p.R111L	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	111					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			GCTCAAGCACGAGCTGCTGAA	0.443000													11	22					0.006122	0.00622561	1	1	0
ECE1	1889	broad.mit.edu	37	1	21582529	21582529	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:21582529C>G	ENST00000415912.2	-	8	1008	c.883G>C	c.(883-885)Gag>Cag	p.E295Q	ECE1_ENST00000357071.4_Missense_Mutation_p.E299Q|ECE1_ENST00000374893.6_Missense_Mutation_p.E311Q|ECE1_ENST00000436918.2_Missense_Mutation_p.E311Q|ECE1_ENST00000264205.6_Missense_Mutation_p.E308Q|ECE1_ENST00000528294.1_5'UTR	NM_001113348.1	NP_001106819.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	311					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		AGTGCCGTCTCAAAGTCCAAG	0.602000													36	8					0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73746222	73746222	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:73746222T>A	ENST00000200181.3	+	28	3534	c.3347T>A	c.(3346-3348)aTg>aAg	p.M1116K	ITGB4_ENST00000579662.1_Missense_Mutation_p.M1116K|ITGB4_ENST00000449880.2_Missense_Mutation_p.M1116K|ITGB4_ENST00000450894.3_Missense_Mutation_p.M1116K|ITGB4_ENST00000339591.3_Missense_Mutation_p.M1116K	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1116					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			ACGAGTCAGATGTTGTCATCA	0.632000											OREG0024739	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	78					0	0	1	0	0
PNLIPRP1	5407	broad.mit.edu	37	10	118352009	118352009	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr10:118352009T>A	ENST00000528052.1	+	4	357	c.286T>A	c.(286-288)Ttc>Atc	p.F96I	PNLIPRP1_ENST00000442761.1_Missense_Mutation_p.F96I|PNLIPRP1_ENST00000480870.2_3'UTR|PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.F96I|PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.F96I			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	96					lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		CATCCATGGCTTCATAGACAA	0.488000													49	3					0	0	1	0	0
PIPSL	266971	broad.mit.edu	37	10	95719626	95719626	+	RNA	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr10:95719626G>A	ENST00000480546.1	-	0	1671					NR_002319.2																						GCCTGCAGCCGGGTGGGTAAG	0.493000													32	0					0	0	1	0	0
ZNF713	349075	broad.mit.edu	37	7	56006860	56006860	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:56006860G>A	ENST00000429591.2	+	4	492	c.454G>A	c.(454-456)Gga>Aga	p.G152R	MRPS17_ENST00000426595.1_Intron	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	152					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GAGATATTTAGGACAAGTAAC	0.413000													12	11					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108175524	108175524	+	Silent	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:108175524T>C	ENST00000278616.4	+	37	6004	c.5619T>C	c.(5617-5619)tgT>tgC	p.C1873C	ATM_ENST00000452508.2_Silent_p.C1873C	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1873					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TCACCAGCTGTCTTCGACACT	0.368000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			11	23					0	0	1	0	0
CDKN2AIP	55602	broad.mit.edu	37	4	184367945	184367945	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:184367945C>T	ENST00000504169.1	+	3	1315	c.1108C>T	c.(1108-1110)Cta>Tta	p.L370L	CDKN2AIP_ENST00000302350.4_3'UTR	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	370	Ser-rich.				negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		AGCTGCATCACTACTAGCTTC	0.488000													21	38					0	0	1	0	0
MAPK9	5601	broad.mit.edu	37	5	179675979	179675979	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:179675979C>T	ENST00000452135.2	-	6	908	c.610G>A	c.(610-612)Gag>Aag	p.E204K	MAPK9_ENST00000425491.2_Missense_Mutation_p.E204K|MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000343111.6_Missense_Mutation_p.E204K|MAPK9_ENST00000524170.1_5'UTR|MAPK9_ENST00000539014.1_Missense_Mutation_p.E204K|MAPK9_ENST00000455781.1_Missense_Mutation_p.E204K|MAPK9_ENST00000393360.3_Missense_Mutation_p.E204K|MAPK9_ENST00000347470.4_Missense_Mutation_p.E204K			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	204	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|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|JUN kinase activity|protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCACCGTTCTCTTTGTAGCCC	0.527000													248	343					0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130409559	130409559	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chrX:130409559G>A	ENST00000370904.1	-	22	3960	c.3050C>T	c.(3049-3051)aCc>aTc	p.T1017I	IGSF1_ENST00000370903.3_Missense_Mutation_p.T1031I|IGSF1_ENST00000361420.3_Missense_Mutation_p.T1026I|IGSF1_ENST00000370910.1_Missense_Mutation_p.T1017I			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1026	Ig-like C2-type 10.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						AGATATATTGGTGATGGGGAA	0.517000													89	2					0	0	1	0	0
PRUNE	58497	broad.mit.edu	37	1	151006538	151006538	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:151006538G>A	ENST00000271620.3	+	8	1346	c.1190G>A	c.(1189-1191)gGc>gAc	p.G397D	PRUNE_ENST00000368934.1_Missense_Mutation_p.G162D|PRUNE_ENST00000271619.8_Missense_Mutation_p.G185D|PRUNE_ENST00000368936.1_Missense_Mutation_p.G215D|PRUNE_ENST00000368935.1_Missense_Mutation_p.G112D|PRUNE_ENST00000368937.1_Missense_Mutation_p.G162D	NM_021222.1	NP_067045.1	Q86TP1	PRUNE_HUMAN	prune exopolyphosphatase	397	Essential for homodimerization.		G -> R (in dbSNP:rs3738477).|G -> S (in dbSNP:rs3738477).			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)			CTGATTTCTGGCCTGAGTCAA	0.562000													18	102					0	0	1	0	0
CRYBA4	1413	broad.mit.edu	37	22	27021570	27021570	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr22:27021570G>A	ENST00000354760.3	+	4	319	c.284G>A	c.(283-285)cGg>cAg	p.R95Q	CRYBA4_ENST00000466315.1_3'UTR	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	95	Beta/gamma crystallin 'Greek key' 2.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens	p.R95Q(1)		large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						ACCTCCTTCCGGCCTGCGGCC	0.597000													56	64					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100684490	100684490	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:100684490A>G	ENST00000306151.4	+	3	9857	c.9793A>G	c.(9793-9795)Act>Gct	p.T3265A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3265	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ATCTCCTCCCACTGCTGAAGG	0.517000													516	155					0	0	1	0	0
ILDR2	387597	broad.mit.edu	37	1	166891923	166891923	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:166891923T>C	ENST00000271417.3	-	8	1173	c.1118A>G	c.(1117-1119)tAt>tGt	p.Y373C	ILDR2_ENST00000528703.1_Missense_Mutation_p.Y314C|ILDR2_ENST00000529071.1_Missense_Mutation_p.Y354C|ILDR2_ENST00000526687.1_Missense_Mutation_p.Y265C|ILDR2_ENST00000525740.1_Missense_Mutation_p.Y246C|ILDR2_ENST00000469934.2_Missense_Mutation_p.Y373C|ILDR2_ENST00000529387.1_Intron	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	373						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						ACCTGACCAATAGTCAGGATT	0.552000													363	302					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41525865	41525865	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr8:41525865G>T	ENST00000396942.1	-	39	5397	c.5314C>A	c.(5314-5316)Cag>Aag	p.Q1772K	ANK1_ENST00000289734.7_Missense_Mutation_p.Q1772K|ANK1_ENST00000352337.4_Missense_Mutation_p.Q1772K|ANK1_ENST00000396945.1_Missense_Mutation_p.Q1772K|ANK1_ENST00000347528.4_Missense_Mutation_p.Q1772K|ANK1_ENST00000265709.8_Missense_Mutation_p.Q1813K|ANK1_ENST00000379758.2_Missense_Mutation_p.Q1772K			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1772	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CTGTCGGCCTGGGAGCTCTCA	0.617000													29	22					1.61788e-16	1.81257e-16	1	1	0
MUC16	94025	broad.mit.edu	37	19	8969284	8969284	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:8969284C>G	ENST00000397910.4	-	79	43263	c.43060G>C	c.(43060-43062)Gag>Cag	p.E14354Q	MUC16_ENST00000380951.5_Missense_Mutation_p.E995Q	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14450	SEA 15.			Missing (in Ref. 3; AAK74120).	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						ACCGCATCCTCAATATTCCTT	0.478000													46	222					0	0	1	0	0
TOPORS	10210	broad.mit.edu	37	9	32544067	32544067	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr9:32544067C>T	ENST00000360538.2	-	3	572	c.456G>A	c.(454-456)gtG>gtA	p.V152V	TOPORS_ENST00000379858.1_Silent_p.V87V	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	152	E3 ubiquitin-protein ligase activity.|Required for DNA-binding.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		CTTCTGCCCTCACAGAATGGA	0.428000													22	72					0	0	1	0	0
MAPK7	5598	broad.mit.edu	37	17	19286175	19286175	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:19286175G>A	ENST00000308406.5	+	6	2599	c.2213G>A	c.(2212-2214)gGg>gAg	p.G738E	MAPK7_ENST00000299612.7_Missense_Mutation_p.G599E|MAPK7_ENST00000395602.4_Missense_Mutation_p.G738E|MAPK7_ENST00000571657.1_3'UTR|MAPK7_ENST00000395604.3_Missense_Mutation_p.G738E	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	738	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)					AAGGGCAGTGGGGCTGGCTAC	0.577000													60	68					0	0	1	0	0
CHD3	1107	broad.mit.edu	37	17	7800409	7800409	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:7800409C>G	ENST00000380358.4	+	11	1894	c.1893C>G	c.(1891-1893)atC>atG	p.I631M	CHD3_ENST00000330494.7_Missense_Mutation_p.I572M|CHD3_ENST00000358181.4_Missense_Mutation_p.I572M	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	572	Chromo 2.				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|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				AGCTGGAAATCTTCCATTTGG	0.532000													9	43					0	0	1	0	0
PLIN4	729359	broad.mit.edu	37	19	4504533	4504533	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:4504533G>A	ENST00000301286.3	-	6	4011	c.4012C>T	c.(4012-4014)Cag>Tag	p.Q1338*		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	1338						lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						GGATTGTGCTGTAGGCCCTCC	0.701000													22	5					0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84706492	84706492	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr15:84706492A>T	ENST00000286744.5	+	30	5234	c.5010A>T	c.(5008-5010)aaA>aaT	p.K1670N	ADAMTSL3_ENST00000567476.1_Intron	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1670	PLAC.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGTTTGTAAAACATCTTAATT	0.373000													30	38					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8182137	8182137	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:8182137C>T	ENST00000600128.1	-	28	3916	c.3502G>A	c.(3502-3504)Gtg>Atg	p.V1168M	FBN3_ENST00000601739.1_Missense_Mutation_p.V1168M|FBN3_ENST00000270509.2_Missense_Mutation_p.V1168M			Q75N90	FBN3_HUMAN	fibrillin 3	1168	EGF-like 16; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						ATACAGTGCACGTCACACCCA	0.637000													31	148					0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175898028	175898028	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:175898028C>G	ENST00000359240.3	+	5	2022	c.1352C>G	c.(1351-1353)tCa>tGa	p.S451*	ADAM29_ENST00000445694.1_Nonsense_Mutation_p.S451*|ADAM29_ENST00000404450.4_Nonsense_Mutation_p.S451*|ADAM29_ENST00000514159.1_Nonsense_Mutation_p.S451*	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	451	Disintegrin.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TTCCTACCATCAGGGAAAGTG	0.443000													15	29					0	0	1	0	0
TSSC4	10078	broad.mit.edu	37	11	2424138	2424138	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:2424138G>A	ENST00000333256.6	+	3	718	c.275G>A	c.(274-276)cGc>cAc	p.R92H	TSSC4_ENST00000451491.2_Missense_Mutation_p.R92H|TSSC4_ENST00000380992.1_Missense_Mutation_p.R28H|TSSC4_ENST00000380996.5_Missense_Mutation_p.R28H			Q9Y5U2	TSSC4_HUMAN	tumor suppressing subtransferable candidate 4	92										endometrium(3)|large_intestine(1)|lung(4)	8		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTCTCCCAGCGCAGCCGTGAC	0.647000													3	25					0	0	1	0	0
C2CD5	9847	broad.mit.edu	37	12	22643100	22643100	+	Silent	SNP	T	T	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:22643100T>G	ENST00000333957.4	-	12	1570	c.1315A>C	c.(1315-1317)Aga>Cga	p.R439R	C2CD5_ENST00000446597.1_Silent_p.R439R|C2CD5_ENST00000396028.2_Silent_p.R430R|C2CD5_ENST00000545552.1_Silent_p.R452R|C2CD5_ENST00000536386.1_Silent_p.R441R|C2CD5_ENST00000542676.1_Silent_p.R439R|C2CD5_ENST00000544930.1_Silent_p.R254R	NM_014802.1	NP_055617.1			C2 calcium-dependent domain containing 5																		TGCAGAAATCTAGGATTCAGT	0.443000													11	49					0	0	1	0	0
MTCH1	23787	broad.mit.edu	37	6	36937845	36937845	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:36937845C>G	ENST00000373627.5	-	11	1192	c.1068G>C	c.(1066-1068)tgG>tgC	p.W356C	MTCH1_ENST00000471737.1_5'UTR|MTCH1_ENST00000373616.5_Missense_Mutation_p.W339C|MTCH1_ENST00000538808.1_Missense_Mutation_p.W183C	NM_001271641.1	NP_001258570.1	Q9NZJ7	MTCH1_HUMAN	mitochondrial carrier 1	356					activation of caspase activity|neuronal ion channel clustering|positive regulation of apoptosis|regulation of signal transduction|transport	integral to membrane|mitochondrial inner membrane	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						AGCAGTGAATCCAGGATTTGA	0.552000													54	3					0	0	1	0	0
GUCA1B	2979	broad.mit.edu	37	6	42156424	42156424	+	Missense_Mutation	SNP	C	C	T	rs147956742	byFrequency	TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:42156424C>T	ENST00000230361.3	-	2	348	c.253G>A	c.(253-255)Gtg>Atg	p.V85M		NM_002098.5	NP_002089.4	Q9UMX6	GUC1B_HUMAN	guanylate cyclase activator 1B (retina)	85	EF-hand 2.				body fluid secretion|cell-cell signaling|receptor guanylyl cyclase signaling pathway|visual perception	plasma membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity			large_intestine(3)|lung(3)|skin(2)	8	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00154)|STAD - Stomach adenocarcinoma(11;0.00177)			CCCCTCAGCACGAGATTCAGA	0.547000													9	22					0	0	1	0	0
ATP2C1	27032	broad.mit.edu	37	3	130686221	130686221	+	Missense_Mutation	SNP	G	G	T	rs115441492	by1000genomes	TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:130686221G>T	ENST00000510168.1	+	16	1816	c.1266G>T	c.(1264-1266)atG>atT	p.M422I	ATP2C1_ENST00000533801.2_Missense_Mutation_p.M417I|ATP2C1_ENST00000507488.2_Missense_Mutation_p.M406I|ATP2C1_ENST00000359644.3_Missense_Mutation_p.M422I|ATP2C1_ENST00000504948.1_Missense_Mutation_p.M406I|ATP2C1_ENST00000328560.8_Missense_Mutation_p.M422I|ATP2C1_ENST00000505330.1_Missense_Mutation_p.M406I|ATP2C1_ENST00000508532.1_Missense_Mutation_p.M422I|ATP2C1_ENST00000422190.2_Missense_Mutation_p.M422I|ATP2C1_ENST00000393221.4_Missense_Mutation_p.M456I|ATP2C1_ENST00000513801.1_Missense_Mutation_p.M406I|ATP2C1_ENST00000504381.1_Missense_Mutation_p.M367I|ATP2C1_ENST00000428331.2_Missense_Mutation_p.M422I			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	422					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)	ATACTCTAATGGGGAAGCCAA	0.393000									Hailey-Hailey disease				29	36					1.06644e-07	1.11715e-07	1	1	0
IGHG3	3502	broad.mit.edu	37	14	106237540	106237540	+	RNA	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:106237540C>G	ENST00000390551.2	-	0	202																											GCACGGTCACCACGCTGCTGA	0.617000													26	49					0	0	1	0	0
SENP3-EIF4A1	100533955	broad.mit.edu	37	17	7476125	7476125	+	RNA	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:7476125G>A	ENST00000579777.1	+	0	2036					NR_037926.1																						ATAAGTTGTCGATAGGCGGGC	0.592000													48	49					0	0	1	0	0
NCBP1	4686	broad.mit.edu	37	9	100433475	100433475	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr9:100433475G>A	ENST00000375147.3	+	23	2623	c.2367G>A	c.(2365-2367)caG>caA	p.Q789Q		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	789					gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				GTGCCCTGCAGGCCTAAGGGT	0.393000													10	26					0	0	1	0	0
ACPT	93650	broad.mit.edu	37	19	51298162	51298162	+	Missense_Mutation	SNP	C	C	T	rs140557537	byFrequency	TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:51298162C>T	ENST00000270593.1	+	10	1106	c.1106C>T	c.(1105-1107)gCc>gTc	p.A369V	ACPT_ENST00000270594.3_Missense_Mutation_p.A276V	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN	acid phosphatase, testicular	369						integral to membrane	acid phosphatase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		ACTGCCCCGGCCCGGCCTCCC	0.692000													241	3					0	0	1	0	0
ASB2	51676	broad.mit.edu	37	14	94404063	94404063	+	Silent	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:94404063G>C	ENST00000555019.1	-	9	2182	c.1752C>G	c.(1750-1752)gcC>gcG	p.A584A	ASB2_ENST00000315988.4_Silent_p.A536A	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	536	SOCS box.				intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		CCTTGATGACGGCCCAGTCCT	0.617000													49	28					0	0	1	0	0
TRAF3IP3	80342	broad.mit.edu	37	1	209935923	209935923	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:209935923G>T	ENST00000367024.1	+	4	925	c.409G>T	c.(409-411)Gat>Tat	p.D137Y	TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.D137Y|TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.D117Y|TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.D117Y|TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.D117Y			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	137						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		CATCTGCAGGGATCTGTCTGA	0.587000													20	5					7.38237e-10	7.87056e-10	1	1	0
C17orf74	201243	broad.mit.edu	37	17	7330284	7330284	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:7330284C>A	ENST00000333870.3	+	3	1048	c.974C>A	c.(973-975)cCt>cAt	p.P325H	RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_3'UTR	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	325						integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				GAGCGCCCCCCTGCCTCGGTG	0.697000													23	12					3.01185e-09	3.19556e-09	1	1	0
CRTC2	200186	broad.mit.edu	37	1	153921785	153921785	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:153921785C>G	ENST00000368633.1	-	12	1607	c.1480G>C	c.(1480-1482)Gtt>Ctt	p.V494L	CRTC2_ENST00000368630.3_Missense_Mutation_p.V174L	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	494					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GTAGGCAGAACCAGACTTGGG	0.582000													16	119					0	0	1	0	0
ATP13A1	57130	broad.mit.edu	37	19	19756542	19756542	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:19756542C>G	ENST00000357324.6	-	25	3444	c.3418G>C	c.(3418-3420)Gtt>Ctt	p.V1140L	ATP13A1_ENST00000291503.5_Missense_Mutation_p.V1022L	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	1140					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						AGGAGTGAAACTGCCAGACTC	0.637000													2	2					0	0	1	0	0
ZNF512	84450	broad.mit.edu	37	2	27821096	27821096	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:27821096G>A	ENST00000355467.4	+	3	335	c.252G>A	c.(250-252)aaG>aaA	p.K84K	ZNF512_ENST00000494548.1_3'UTR|ZNF512_ENST00000556601.1_5'UTR|ZNF512_ENST00000416005.2_Silent_p.K83K|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000413371.2_Silent_p.K7K|ZNF512_ENST00000379717.1_Silent_p.K83K	NM_001271287.1|NM_001271288.1|NM_001271289.1|NM_001271318.1|NM_032434.3	NP_001258216.1|NP_001258217.1|NP_001258218.1|NP_001258247.1|NP_115810.2	Q96ME7	ZN512_HUMAN	zinc finger protein 512	84					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					GAAGAATCAAGCCAGCTGCTA	0.408000													16	68					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39800781	39800781	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:39800781G>T	ENST00000564288.1	+	37	9298	c.8521G>T	c.(8521-8523)Gaa>Taa	p.E2841*	MACF1_ENST00000567887.1_Nonsense_Mutation_p.E2878*|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000289893.4_Nonsense_Mutation_p.E1281*|MACF1_ENST00000372915.3_Nonsense_Mutation_p.E2846*|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2846					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)			AAAGAGCAGGGAAATTTCCTT	0.363000													16	3					1.33834e-09	1.42454e-09	1	1	0
C9	735	broad.mit.edu	37	5	39288867	39288867	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:39288867C>G	ENST00000263408.4	-	10	1698	c.1603G>C	c.(1603-1605)Gag>Cag	p.E535Q		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	535	EGF-like.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			GCAATTCCCTCAAATTTGAAT	0.348000													50	82					0	0	1	0	0
PTP4A3	11156	broad.mit.edu	37	8	142441037	142441037	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr8:142441037G>T	ENST00000520105.1	+	5	1283	c.340G>T	c.(340-342)Gga>Tga	p.G114*	PTP4A3_ENST00000524028.1_Nonsense_Mutation_p.G53*|PTP4A3_ENST00000521578.1_Nonsense_Mutation_p.G139*|PTP4A3_ENST00000329397.1_Nonsense_Mutation_p.G139*|PTP4A3_ENST00000349124.1_Nonsense_Mutation_p.G114*			O75365	TP4A3_HUMAN	protein tyrosine phosphatase type IVA, member 3	139	Tyrosine-protein phosphatase.					early endosome|plasma membrane	identical protein binding|prenylated protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(2)|large_intestine(1)|lung(3)	6	all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0474)			GAAGCGCCGCGGAGCCATCAA	0.597000													17	23					1.96292e-10	2.10632e-10	1	1	0
MUC16	94025	broad.mit.edu	37	19	9065491	9065491	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:9065491C>G	ENST00000397910.4	-	3	22158	c.21955G>C	c.(21955-21957)Gca>Cca	p.A7319P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7321	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GATGATTCTGCCAGGATGGGG	0.453000													30	10					0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10116261	10116261	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:10116261G>A	ENST00000264828.3	-	4	652	c.567C>T	c.(565-567)acC>acT	p.T189T		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	189	TSP N-terminal.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CAAGGTCCTGGGTCCCCAGCA	0.562000													3	71					0	0	1	0	0
KCNT1	57582	broad.mit.edu	37	9	138675901	138675901	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr9:138675901T>A	ENST00000298480.5	+	25	2947	c.2873T>A	c.(2872-2874)tTc>tAc	p.F958Y	KCNT1_ENST00000490355.2_Missense_Mutation_p.F937Y|KCNT1_ENST00000486577.2_Missense_Mutation_p.F917Y|KCNT1_ENST00000491806.2_Missense_Mutation_p.F925Y|KCNT1_ENST00000487664.1_Missense_Mutation_p.F913Y|KCNT1_ENST00000371757.2_Missense_Mutation_p.F958Y|KCNT1_ENST00000263604.3_Missense_Mutation_p.F939Y|KCNT1_ENST00000488444.2_Missense_Mutation_p.F939Y			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	958						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		AACCTGGCCTTCATGTTCCGC	0.662000													67	23					0	0	1	0	0
TECR	9524	broad.mit.edu	37	19	14640523	14640523	+	Translation_Start_Site	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:14640523G>A	ENST00000600083.1	+	0	118				TECR_ENST00000215567.5_Splice_Site_p.E5E|TECR_ENST00000596164.1_3'UTR|TECR_ENST00000436007.2_5'UTR|TECR_ENST00000596073.1_De_novo_Start_OutOfFrame			Q9NZ01	TECR_HUMAN	trans-2,3-enoyl-CoA reductase						fatty acid elongation|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	trans-2-enoyl-CoA reductase (NADPH) activity|very long-chain-acyl-CoA dehydrogenase activity			endometrium(1)|large_intestine(1)|ovary(1)	3						AGCATTACGAGGTAAGAAGCG	0.622000													5	36					0	0	1	0	0
GAK	2580	broad.mit.edu	37	4	860930	860930	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:860930C>A	ENST00000314167.4	-	21	2796	c.2686G>T	c.(2686-2688)Gta>Tta	p.V896L	GAK_ENST00000511163.1_Missense_Mutation_p.V817L|GAK_ENST00000509566.1_5'UTR	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	896					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		TGCGGGGGTACAGCTGGCCCT	0.701000													16	6					5.35267e-07	5.58944e-07	1	1	0
CCDC73	493860	broad.mit.edu	37	11	32781668	32781668	+	Nonsense_Mutation	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:32781668A>T	ENST00000531481.1	-	2	398	c.122T>A	c.(121-123)tTg>tAg	p.L41*	CCDC73_ENST00000534415.1_5'UTR|CCDC73_ENST00000335185.5_Nonsense_Mutation_p.L41*			Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	41										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TCTCATACGCAATTCTTCTAA	0.289000													5	111					0	0	1	0	0
LZTR1	8216	broad.mit.edu	37	22	21345960	21345960	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr22:21345960C>G	ENST00000215739.8	+	9	1194	c.835C>G	c.(835-837)Cca>Gca	p.P279A	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.P260A	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	279					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GGGCTCCCCACCACCCCCGCA	0.647000													7	19					0	0	1	0	0
TNS3	64759	broad.mit.edu	37	7	47408849	47408849	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:47408849T>A	ENST00000398879.1	-	17	1760	c.1394A>T	c.(1393-1395)aAt>aTt	p.N465I	TNS3_ENST00000311160.9_Missense_Mutation_p.N465I|TNS3_ENST00000355730.3_Intron			Q68CZ2	TENS3_HUMAN	tensin 3	465						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						AGCGTCTCCATTCACGTGAAC	0.582000													18	24					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61416073	61416073	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:61416073C>T	ENST00000398571.2	-	79	10081	c.10005G>A	c.(10003-10005)gaG>gaA	p.E3335E	AHSA2_ENST00000394457.3_3'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3335					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TGGCTTCTTGCTCTTGGAGTG	0.413000													28	21					0	0	1	0	0
MPDZ	8777	broad.mit.edu	37	9	13107098	13107098	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr9:13107098C>T	ENST00000319217.7	-	47	6326	c.6079G>A	c.(6079-6081)Gaa>Aaa	p.E2027K	MPDZ_ENST00000538841.1_Missense_Mutation_p.E886K|MPDZ_ENST00000536827.1_Missense_Mutation_p.E1965K|MPDZ_ENST00000541093.1_Missense_Mutation_p.E261K|MPDZ_ENST00000381022.2_Missense_Mutation_p.E1998K|MPDZ_ENST00000546205.1_Missense_Mutation_p.E2041K|MPDZ_ENST00000447879.1_Missense_Mutation_p.E1994K|MPDZ_ENST00000541718.1_Missense_Mutation_p.E1998K|MPDZ_ENST00000381015.4_Missense_Mutation_p.E2027K	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	2027	PDZ 13.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CGTCCGTCTTCAGAGGCTGCT	0.433000													21	90					0	0	1	0	0
TLE1	7088	broad.mit.edu	37	9	84230944	84230944	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr9:84230944C>T	ENST00000376499.3	-	11	1935	c.871G>A	c.(871-873)Gcc>Acc	p.A291T	TLE1_ENST00000376472.1_5'UTR|TLE1_ENST00000464999.1_5'UTR	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	291	Pro/Ser-rich.				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						GCCGAGGAGGCCGTGGAAGCT	0.488000													32	16					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166859238	166859238	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:166859238G>T	ENST00000423058.2	-	21	4045	c.4028C>A	c.(4027-4029)gCa>gAa	p.A1343E	SCN1A_ENST00000409050.1_Missense_Mutation_p.A1315E|SCN1A_ENST00000303395.4_Missense_Mutation_p.A1343E|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.A1332E	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1343						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GGATGGAATTGCTCCTAAAAG	0.348000													28	14					5.73237e-09	6.06255e-09	1	1	0
SIX5	147912	broad.mit.edu	37	19	46269241	46269241	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:46269241C>A	ENST00000317578.6	-	3	2119	c.1738G>T	c.(1738-1740)Gcc>Tcc	p.A580S	SIX5_ENST00000560168.1_3'UTR|AC074212.5_ENST00000559756.1_RNA	NM_175875.4	NP_787071	Q8N196	SIX5_HUMAN	SIX homeobox 5	580						cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)		AGGCCGGGGGCTGGCGGCAGG	0.706000													3	8					1	1	1	1	0
LRGUK	136332	broad.mit.edu	37	7	133812382	133812382	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:133812382G>A	ENST00000285928.2	+	1	331	c.262G>A	c.(262-264)Gag>Aag	p.E88K	LRGUK_ENST00000473068.1_3'UTR	NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	88							ATP binding|kinase activity	p.E88Q(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						GGCGGGATCCGAGGAGTCCTC	0.617000													22	39					0	0	1	0	0
DENND1C	79958	broad.mit.edu	37	19	6479898	6479898	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:6479898C>A	ENST00000381480.2	-	3	210	c.98G>T	c.(97-99)cGg>cTg	p.R33L	DENND1C_ENST00000591030.1_5'UTR|DENND1C_ENST00000543576.1_Intron	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	33	UDENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						AGGGAACTGCCGCAGGATGGG	0.642000													6	4					0.00448238	0.00457231	1	1	0
FBN2	2201	broad.mit.edu	37	5	127674745	127674745	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:127674745C>A	ENST00000508053.1	-	32	4326	c.3352G>T	c.(3352-3354)Gag>Tag	p.E1118*	FBN2_ENST00000262464.4_Nonsense_Mutation_p.E1118*|FBN2_ENST00000508989.1_Nonsense_Mutation_p.E1085*|FBN2_ENST00000507835.1_5'UTR			P35556	FBN2_HUMAN	fibrillin 2	1118	EGF-like 16; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ATCCTGCACTCGTCGATGTCT	0.458000													26	28					1.67305e-13	1.83702e-13	1	1	0
SLC7A2	6542	broad.mit.edu	37	8	17396379	17396379	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr8:17396379C>G	ENST00000470360.1	+	3	163	c.46C>G	c.(46-48)Cga>Gga	p.R16G	SLC7A2_ENST00000004531.10_Missense_Mutation_p.R16G|SLC7A2_ENST00000494857.1_Intron|SLC7A2_ENST00000398090.3_Missense_Mutation_p.R16G|SLC7A2_ENST00000522656.1_Intron			P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	0					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	ACTAATTTGTCGAGGGTTTAT	0.423000													17	91					0	0	1	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156634314	156634314	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:156634314C>T	ENST00000296518.7	+	7	1360	c.1151C>T	c.(1150-1152)tCa>tTa	p.S384L	GUCY1A3_ENST00000511108.1_Missense_Mutation_p.S384L|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.S126L|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.S384L|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.S384L|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.S384L|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.S384L			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	384					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)		TTTTTGGGGTCACCCTGTGTG	0.428000													18	32					0	0	1	0	0
IPO7	10527	broad.mit.edu	37	11	9450663	9450663	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:9450663G>A	ENST00000379719.3	+	14	1653	c.1511G>A	c.(1510-1512)tGt>tAt	p.C504Y		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	504					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		ACAAGAAGATGTCTGATTGAT	0.378000													18	4					0	0	1	0	0
DCAF6	55827	broad.mit.edu	37	1	167962475	167962475	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:167962475G>A	ENST00000367840.3	+	7	794	c.700G>A	c.(700-702)Ggt>Agt	p.G234S	DCAF6_ENST00000432587.2_Missense_Mutation_p.G203S|DCAF6_ENST00000367843.3_Missense_Mutation_p.G234S|DCAF6_ENST00000312263.6_Missense_Mutation_p.G234S	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	234					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						GAATTATGCAGGTCGAGGGAC	0.318000													44	57					0	0	1	0	0
PDILT	204474	broad.mit.edu	37	16	20380853	20380853	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr16:20380853G>A	ENST00000302451.4	-	8	1325	c.1077C>T	c.(1075-1077)ctC>ctT	p.L359L		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	359					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	p.L359L(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						CAAATTTCTTGAGGCTTTCGT	0.443000													52	31					0	0	1	0	0
KIAA1024	23251	broad.mit.edu	37	15	79748439	79748439	+	Splice_Site	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr15:79748439G>A	ENST00000305428.3	+	2	25		c.e2-1			NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024							integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						TGCCACCACAGAACTGACCTG	0.403000													8	6					0	0	1	0	0
OR8A1	390275	broad.mit.edu	37	11	124440003	124440003	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:124440003C>T	ENST00000284287.3	+	1	111	c.39C>T	c.(37-39)ccC>ccT	p.P13P		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		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;0.0214)		GCAGGCCTCCCACCCAGAGGA	0.522000													16	11					0	0	1	0	0
SBNO1	55206	broad.mit.edu	37	12	123782653	123782653	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:123782653T>A	ENST00000420886.2	-	30	3910	c.3911A>T	c.(3910-3912)tAt>tTt	p.Y1304F	SBNO1_ENST00000602750.1_Missense_Mutation_p.Y1303F|SBNO1_ENST00000602398.1_Missense_Mutation_p.Y1304F|SBNO1_ENST00000267176.4_Missense_Mutation_p.Y1303F	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1304							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TAATACATAATATGTACGGCA	0.438000													30	56					0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35454054	35454054	+	Silent	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:35454054C>G	ENST00000353139.5	-	54	7249	c.6768G>C	c.(6766-6768)ctG>ctC	p.L2256L	ACACA_ENST00000360679.3_Silent_p.L2161L|ACACA_ENST00000335166.5_Silent_p.L2141L|ACACA_ENST00000361253.5_Silent_p.L345L|ACACA_ENST00000394406.2_Silent_p.L2219L	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	2219					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)	GAAGACGCCTCAGCCGCCAGT	0.488000													19	11					0	0	1	0	0
VN1R4	317703	broad.mit.edu	37	19	53770252	53770252	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:53770252G>T	ENST00000311170.4	-	1	720	c.667C>A	c.(667-669)Ccc>Acc	p.P223T		NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	223					response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		GAGGCTCTGGGGGAGAGATTG	0.537000										HNSCC(26;0.072)			21	2					7.92952e-12	8.59248e-12	1	1	0
THRAP3	9967	broad.mit.edu	37	1	36769407	36769407	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:36769407G>A	ENST00000354618.5	+	12	2881	c.2657G>A	c.(2656-2658)cGt>cAt	p.R886H	THRAP3_ENST00000469141.2_Missense_Mutation_p.R886H	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	886					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CATGATGACCGTGAAGGCGAA	0.587000			T	USP6	aneurysmal bone cysts								68	8					0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20785059	20785059	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:20785059G>A	ENST00000404938.2	+	26	4079	c.3427G>A	c.(3427-3429)Gag>Aag	p.E1143K	ABCB5_ENST00000258738.6_Missense_Mutation_p.E698K	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	698					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AGGTCTCCCTGAGGTAAGAAA	0.398000													9	13					0	0	1	0	0
KPNB1	3837	broad.mit.edu	37	17	45752045	45752045	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:45752045C>G	ENST00000290158.4	+	15	2216	c.1809C>G	c.(1807-1809)atC>atG	p.I603M	KPNB1_ENST00000537679.1_Missense_Mutation_p.I387M|KPNB1_ENST00000535458.2_Missense_Mutation_p.I458M|KPNB1_ENST00000540627.1_Missense_Mutation_p.I458M	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	603					DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding			breast(1)|ovary(1)|pancreas(1)|skin(1)	4						CTTTGCAGATCTCTGATGTGG	0.463000													13	200					0	0	1	0	0
ZNF394	84124	broad.mit.edu	37	7	99097527	99097527	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:99097527G>A	ENST00000337673.6	-	1	393	c.190C>T	c.(190-192)Cga>Tga	p.R64*	ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000494186.1_Intron|ZNF394_ENST00000394177.3_Intron|ZNF394_ENST00000426306.2_Nonsense_Mutation_p.R64*	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	64	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AAGTGCAGTCGAGAAGTTTCG	0.627000													7	46					0	0	1	0	0
ATP2B3	492	broad.mit.edu	37	X	152807362	152807362	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chrX:152807362G>A	ENST00000370186.1	+	4	968	c.642G>A	c.(640-642)ggG>ggA	p.G214G	ATP2B3_ENST00000359149.3_Silent_p.G214G|ATP2B3_ENST00000263519.4_Silent_p.G214G|ATP2B3_ENST00000370181.2_Silent_p.G214G|ATP2B3_ENST00000349466.2_Silent_p.G214G|ATP2B3_ENST00000393842.1_Silent_p.G214G			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	214					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGTGGTGGGGGACATTGCCC	0.637000													59	9					0	0	1	0	0
ARMC5	79798	broad.mit.edu	37	16	31476086	31476086	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr16:31476086A>C	ENST00000457010.2	+	4	2443	c.1742A>C	c.(1741-1743)gAg>gCg	p.E581A	ARMC5_ENST00000538189.1_Missense_Mutation_p.E613A|ARMC5_ENST00000268314.4_Missense_Mutation_p.E581A|ARMC5_ENST00000408912.3_Missense_Mutation_p.E676A|ARMC5_ENST00000412665.2_Missense_Mutation_p.E225A|ARMC5_ENST00000563544.1_Missense_Mutation_p.E581A	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	581							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GCCTGCCTCGAGGCCTTCGTG	0.716000													5	13					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76554223	76554223	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:76554223G>A	ENST00000389840.5	-	14	2269	c.2145C>T	c.(2143-2145)ggC>ggT	p.G715G	DNAH17_ENST00000585328.1_Silent_p.G715G					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCTCCAGGTTGCCCACAAACT	0.433000													13	11					0	0	1	0	0
PSMD1	5707	broad.mit.edu	37	2	231927368	231927368	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:231927368G>A	ENST00000308696.6	+	4	445	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K	PSMD1_ENST00000409643.1_Missense_Mutation_p.E95K|PSMD1_ENST00000373635.4_Missense_Mutation_p.E95K	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	95					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	TGATAACTCTGAATATGTGGA	0.398000													20	3					0	0	1	0	0
ABI1	10006	broad.mit.edu	37	10	27052865	27052865	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr10:27052865G>T	ENST00000355394.4	-	8	1071	c.848C>A	c.(847-849)tCt>tAt	p.S283Y	ABI1_ENST00000490841.2_Intron|ABI1_ENST00000376139.2_Intron|ABI1_ENST00000536334.1_Intron|ABI1_ENST00000376170.4_Intron|ABI1_ENST00000359188.4_Intron|ABI1_ENST00000376134.3_Intron|ABI1_ENST00000376138.3_Intron|ABI1_ENST00000376140.3_Intron|ABI1_ENST00000376142.2_Missense_Mutation_p.S282Y|ABI1_ENST00000376160.1_Intron|ABI1_ENST00000346832.5_Missense_Mutation_p.S299Y|ABI1_ENST00000376137.4_Intron|ABI1_ENST00000376166.1_Intron			Q8IZP0	ABI1_HUMAN	abl-interactor 1	282	Pro-rich.				actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome	cytoskeletal protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGGAGCTCCAGAAGGAGGAGG	0.413000													21	41					2.98393e-07	3.12085e-07	1	1	0
LRRC8D	55144	broad.mit.edu	37	1	90398656	90398656	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:90398656T>A	ENST00000337338.5	+	3	436	c.29T>A	c.(28-30)cTt>cAt	p.L10H	RP11-302M6.4_ENST00000370453.5_3'UTR|LRRC8D_ENST00000394593.3_Missense_Mutation_p.L10H	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	10						integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		GTTGCATCACTTAATGACATT	0.378000													5	46					0	0	1	0	0
MFSD4	148808	broad.mit.edu	37	1	205561360	205561360	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:205561360C>T	ENST00000367147.4	+	7	1335	c.1242C>T	c.(1240-1242)ctC>ctT	p.L414L	MFSD4_ENST00000536357.1_Silent_p.L327L|MFSD4_ENST00000539267.1_Silent_p.L414L	NM_181644.4	NP_857595.3	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing 4	414					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			GCCTGTTTCTCAGCAGCACCT	0.622000											OREG0014160	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	35	13					0	0	1	0	0
PTPN4	5775	broad.mit.edu	37	2	120639722	120639722	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:120639722C>G	ENST00000263708.2	+	7	1234	c.463C>G	c.(463-465)Cag>Gag	p.Q155E		NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	155	FERM.					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	ATTTGCTGTTCAGTGTAAGTA	0.358000													58	44					0	0	1	0	0
FAM13B	51306	broad.mit.edu	37	5	137347541	137347541	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:137347541C>G	ENST00000033079.3	-	5	915	c.464G>C	c.(463-465)aGa>aCa	p.R155T	FAM13B_ENST00000425075.2_Missense_Mutation_p.R37T|FAM13B_ENST00000420893.2_Missense_Mutation_p.R155T	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	155	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(4)|kidney(2)|lung(5)	11						GGCTAAAAATCTACACAGAAA	0.338000													24	25					0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32617924	32617924	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr21:32617924G>A	ENST00000286827.3	-	7	1935	c.1464C>T	c.(1462-1464)aaC>aaT	p.N488N	TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Silent_p.N488N	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	488	PH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TGGGGATGCTGTTGTGGTCTA	0.542000													18	3					0	0	1	0	0
BARHL1	56751	broad.mit.edu	37	9	135458598	135458598	+	Silent	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr9:135458598A>G	ENST00000263610.2	+	1	1027	c.414A>G	c.(412-414)agA>agG	p.R138R	BARHL1_ENST00000542090.1_Silent_p.R138R	NM_020064.3	NP_064448.1	Q9BZE3	BARH1_HUMAN	BarH-like homeobox 1	138						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(2)|lung(2)|skin(3)	8				OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)		AGGACTTTAGAGACAAGCTGG	0.582000													15	2					0	0	1	0	0
CLCN4	1183	broad.mit.edu	37	X	10155598	10155598	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chrX:10155598G>T	ENST00000380833.4	+	4	579	c.188G>T	c.(187-189)aGc>aTc	p.S63I	CLCN4_ENST00000380829.1_Missense_Mutation_p.S63I|CLCN4_ENST00000421085.2_Intron	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	63						early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TTCATCAAGAGCCTGCTGGAT	0.542000													184	8					8.60899e-122	1.03464e-121	1	1	0
RSPH3	83861	broad.mit.edu	37	6	159404769	159404769	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:159404769C>T	ENST00000367069.2	-	4	1053	c.417G>A	c.(415-417)ttG>ttA	p.L139L	RSPH3_ENST00000297262.3_Intron|RSPH3_ENST00000252655.1_Silent_p.L281L|RSPH3_ENST00000449822.1_Intron			Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog (Chlamydomonas)	281										endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		GTGGTCTGTCCAAAAATGCAT	0.393000													21	30					0	0	1	0	0
PTPN22	26191	broad.mit.edu	37	1	114380599	114380599	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:114380599G>C	ENST00000359785.5	-	13	1558	c.1423C>G	c.(1423-1425)Caa>Gaa	p.Q475E	PTPN22_ENST00000525799.1_Missense_Mutation_p.Q348E|PTPN22_ENST00000528414.1_Missense_Mutation_p.Q420E|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000538253.1_Missense_Mutation_p.Q231E|PTPN22_ENST00000420377.2_Missense_Mutation_p.Q475E	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	475					negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		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)		TCATGTGGTTGAGATTCCAAA	0.393000													34	2					0	0	1	0	0
CHRM3	1131	broad.mit.edu	37	1	240072271	240072271	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:240072271A>T	ENST00000255380.4	+	5	2299	c.1520A>T	c.(1519-1521)tAc>tTc	p.Y507F		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	507					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	TGGACCCCATACAACATCATG	0.502000													33	106					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124403343	124403343	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:124403343C>T	ENST00000409039.3	+	64	11024	c.10999C>T	c.(10999-11001)Ctg>Ttg	p.L3667L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3667					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGAGATGGCCCTGGTGAACTC	0.577000													7	16					0	0	1	0	0
CREB3L3	84699	broad.mit.edu	37	19	4168393	4168393	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:4168393A>G	ENST00000078445.2	+	6	907	c.760A>G	c.(760-762)Aag>Gag	p.K254E	CREB3L3_ENST00000602257.1_Missense_Mutation_p.K252E|CREB3L3_ENST00000595923.1_Missense_Mutation_p.K253E|CREB3L3_ENST00000252587.3_Missense_Mutation_p.K194E|CREB3L3_ENST00000602147.1_Intron	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	254					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		AATCCGGAACAAGCAGTCGGC	0.537000													19	16					0	0	1	0	0
OR8H3	390152	broad.mit.edu	37	11	55890516	55890516	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:55890516C>T	ENST00000313472.3	+	1	668	c.668C>T	c.(667-669)tCt>tTt	p.S223F		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TCCATTCTCTCTACCATCCTG	0.418000													53	57					0	0	1	0	0
CYP1A1	1543	broad.mit.edu	37	15	75013618	75013618	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr15:75013618G>T	ENST00000379727.3	-	5	1286	c.1088C>A	c.(1087-1089)tCc>tAc	p.S363Y	CYP1A1_ENST00000567032.1_Missense_Mutation_p.S363Y|CYP1A1_ENST00000564596.1_Missense_Mutation_p.S102Y|CYP1A1_ENST00000395048.2_Missense_Mutation_p.S363Y|CYP1A1_ENST00000395049.4_Missense_Mutation_p.S363Y			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	363					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	GGGCAGATGGGATCTGTCAGA	0.607000									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				19	43					2.70639e-06	2.80836e-06	1	1	0
FAM86EP	348926	broad.mit.edu	37	4	3952916	3952916	+	RNA	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:3952916G>A	ENST00000281228.8	-	0	191				FAM86EP_ENST00000313946.8_RNA																							ACTGACGGCGGGTGCTTCACA	0.527000													4	66					0	0	1	0	0
RPL35	11224	broad.mit.edu	37	9	127623766	127623766	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr9:127623766C>T	ENST00000373570.4	-	2	74	c.72G>A	c.(70-72)ctG>ctA	p.L24L	RPL35_ENST00000348462.3_Silent_p.L24L			P42766	RL35_HUMAN	ribosomal protein L35	24					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	mRNA binding|protein binding|structural constituent of ribosome			breast(1)|large_intestine(1)|lung(1)|ovary(1)	4				GBM - Glioblastoma multiforme(294;0.182)		GCTCCACCTTCAGGTCGTCCA	0.612000													44	10					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628300	29628300	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr20:29628300G>A	ENST00000278882.3	+	6	682	c.302G>A	c.(301-303)aGt>aAt	p.S101N	FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N														p.S101N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAGCAAAAAGTAAAACAGCA	0.358000													5	52					0	0	1	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74911311	74911311	+	Missense_Mutation	SNP	G	G	A	rs149242910	byFrequency	TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:74911311G>A	ENST00000289575.5	+	11	2037	c.1642G>A	c.(1642-1644)Gtg>Atg	p.V548M	SLCO2B1_ENST00000532236.1_Missense_Mutation_p.V432M|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.V404M|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.V526M|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.V321M|SLCO2B1_ENST00000531756.1_Missense_Mutation_p.V293M|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.V321M	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	548					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	GGGCAACCCCGTGCTGGCAGG	0.632000													82	110					0	0	1	0	0
PHF20L1	51105	broad.mit.edu	37	8	133811032	133811032	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr8:133811032C>T	ENST00000395386.2	+	5	654	c.355C>T	c.(355-357)Cag>Tag	p.Q119*	PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000337920.4_Nonsense_Mutation_p.Q119*|PHF20L1_ENST00000395390.2_Nonsense_Mutation_p.Q119*|PHF20L1_ENST00000395376.1_Nonsense_Mutation_p.Q119*|PHF20L1_ENST00000395379.1_Nonsense_Mutation_p.Q119*	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	119	Tudor 2.						nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	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)			ATTTACAGTTCAGTTTTATGA	0.358000													9	12					0	0	1	0	0
RRAGB	10325	broad.mit.edu	37	X	55777615	55777615	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chrX:55777615G>T	ENST00000374941.4	+	6	1187	c.598G>T	c.(598-600)Gaa>Taa	p.E200*	RRAGB_ENST00000474757.1_3'UTR|RRAGB_ENST00000262850.7_Nonsense_Mutation_p.E228*	NM_006064.4	NP_006055.3	Q5VZM2	RRAGB_HUMAN	Ras-related GTP binding B	228					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|signal transduction	Golgi apparatus|lysosome|nucleus	GTP binding|protein binding			breast(1)|endometrium(3)|large_intestine(5)|lung(3)|pancreas(1)|prostate(1)	14						TATCTGGGATGAAACCCTCTA	0.363000													14	0					2.54575e-18	2.8913e-18	1	1	0
TTN	7273	broad.mit.edu	37	2	179429553	179429553	+	Silent	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:179429553G>T	ENST00000589042.1	-	326	81530	c.81306C>A	c.(81304-81306)acC>acA	p.T27102T	TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Silent_p.T24534T|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Silent_p.T18229T|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Silent_p.T25461T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.T18162T|TTN_ENST00000460472.2_Silent_p.T18037T|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25461	Fibronectin type-III 97.|Ig-like 129.						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)			CAATAATTTTGGTGCCTCCAT	0.398000													3	2					0.0215528	0.021717	1	1	0
NBPF3	84224	broad.mit.edu	37	1	21795335	21795335	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:21795335G>T	ENST00000318220.6	+	6	1168	c.120G>T	c.(118-120)caG>caT	p.Q40H	NBPF3_ENST00000454000.2_Intron|NBPF3_ENST00000342104.5_Missense_Mutation_p.Q96H|NBPF3_ENST00000318249.5_Missense_Mutation_p.Q96H			Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	96						cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		ACCTCAAACAGAAATGTCTTG	0.458000											OREG0013205	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	0					3.5997e-14	3.97229e-14	1	1	0
PAN2	9924	broad.mit.edu	37	12	56713447	56713447	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:56713447C>A	ENST00000425394.2	-	22	3436	c.3060G>T	c.(3058-3060)gaG>gaT	p.E1020D	PAN2_ENST00000548043.1_Missense_Mutation_p.E1020D|PAN2_ENST00000257931.5_Missense_Mutation_p.E1019D|PAN2_ENST00000440411.3_Missense_Mutation_p.E1016D	NM_001127460.2	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	1020	Exonuclease.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						AGGGGATACCCTCATTGGGTC	0.498000													13	50					9.31168e-06	9.60222e-06	1	1	0
NDUFS2	4720	broad.mit.edu	37	1	161176202	161176202	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:161176202G>A	ENST00000392179.4	+	3	447	c.208G>A	c.(208-210)Gac>Aac	p.D70N	NDUFS2_ENST00000476409.2_5'UTR|NDUFS2_ENST00000367993.3_Missense_Mutation_p.D70N	NM_001166159.1	NP_001159631.1	O75306	NDUS2_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)	70					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		NADH(DB00157)	CTCAGATGTGGACCCTCCAAA	0.473000													12	98					0	0	1	0	0
TMIE	259236	broad.mit.edu	37	3	46751086	46751086	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:46751086A>C	ENST00000326431.3	+	4	534	c.379A>C	c.(379-381)Aag>Cag	p.K127Q		NM_147196.2	NP_671729.2	Q8NEW7	TMIE_HUMAN	transmembrane inner ear	127	Lys-rich.					integral to membrane				endometrium(1)|lung(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000688)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		gaagaagaagaagaagaagaa	0.502000													19	28					0	0	1	0	0
C7orf57	136288	broad.mit.edu	37	7	48081010	48081010	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:48081010C>T	ENST00000348904.3	+	3	347	c.135C>T	c.(133-135)agC>agT	p.S45S	C7orf57_ENST00000430738.1_Silent_p.S90S|C7orf57_ENST00000539619.1_Silent_p.S45S|C7orf57_ENST00000435376.1_5'UTR|C7orf57_ENST00000420324.1_Silent_p.S90S	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN	chromosome 7 open reading frame 57	45										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						CAGGTCTCAGCAATTTGGGAG	0.537000													13	23					0	0	1	0	0
SULT1A1	6817	broad.mit.edu	37	16	28617545	28617545	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr16:28617545C>G	ENST00000395609.1	-	9	1365	c.607G>C	c.(607-609)Gag>Cag	p.E203Q	SULT1A1_ENST00000569554.1_Missense_Mutation_p.E203Q|SULT1A1_ENST00000314752.7_Missense_Mutation_p.E203Q|SULT1A1_ENST00000350842.4_Missense_Mutation_p.E125Q|SULT1A1_ENST00000395607.1_Missense_Mutation_p.E203Q			P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	203					3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						TTTTGAATCTCCCTTTTCGGG	0.542000													9	2					0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	118293355	118293355	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:118293355T>G	ENST00000425217.1	-	3	317	c.263A>C	c.(262-264)gAg>gCg	p.E88A	KSR2_ENST00000339824.5_Missense_Mutation_p.E117A	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	117					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAAGAGGTCCTCCAGGCTCAG	0.612000													26	20					0	0	1	0	0
MCM3	4172	broad.mit.edu	37	6	52141909	52141909	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:52141909G>A	ENST00000596288.1	-	8	1283	c.1256C>T	c.(1255-1257)tCt>tTt	p.S419F	MCM3_ENST00000419835.2_Missense_Mutation_p.S328F|MCM3_ENST00000229854.7_Missense_Mutation_p.S374F|MCM3_ENST00000476448.1_5'UTR	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	374	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					ACCCACTCCAGAGGAGCCCCG	0.602000													16	30					0	0	1	0	0
SLC18A3	6572	broad.mit.edu	37	10	50820268	50820268	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr10:50820268C>T	ENST00000374115.3	+	1	1922	c.1482C>T	c.(1480-1482)taC>taT	p.Y494Y	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	494					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						AAGGTCTGTACGATGCGGTGC	0.647000													17	25					0	0	1	0	0
ZIC2	7546	broad.mit.edu	37	13	100634920	100634920	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr13:100634920G>C	ENST00000376335.3	+	1	895	c.602G>C	c.(601-603)cGg>cCg	p.R201P		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	201	Necessary for interaction with MDFIC and transcriptional activation or repression (By similarity).				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GCCAGCCCGCGGACCGACCCC	0.672000													7	24					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21826250	21826250	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:21826250C>T	ENST00000328843.6	+	60	9658	c.9627C>T	c.(9625-9627)ctC>ctT	p.L3209L	DNAH11_ENST00000409508.3_Silent_p.L3202L			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3209	Stalk (By similarity).				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						AGGTCAACCTCAGTGAGCTGA	0.517000									Kartagener syndrome				20	42					0	0	1	0	0
TUBA1A	7846	broad.mit.edu	37	12	49579351	49579351	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:49579351G>C	ENST00000301071.7	-	4	1142	c.798C>G	c.(796-798)caC>caG	p.H266Q	TUBA1A_ENST00000550767.1_Missense_Mutation_p.H231Q|TUBA1A_ENST00000295766.5_Missense_Mutation_p.H266Q	NM_001270400.1|NM_006009.3	NP_001257329.1|NP_006000.2	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	266					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity			stomach(1)|upper_aerodigestive_tract(1)	2						CCAGAGGGAAGTGGATGCGGG	0.512000													18	95					0	0	1	0	0
ABTB2	25841	broad.mit.edu	37	11	34226117	34226117	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:34226117G>A	ENST00000435224.2	-	2	1428	c.1004C>T	c.(1003-1005)aCc>aTc	p.T335I	ABTB2_ENST00000298992.2_Missense_Mutation_p.T149I|ABTB2_ENST00000530814.1_5'UTR	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	149							DNA binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				GCCCACGCAGGTGGCCAGGAG	0.642000													36	33					0	0	1	0	0
CAPN5	726	broad.mit.edu	37	11	76826502	76826502	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:76826502A>G	ENST00000278559.3	+	6	950	c.761A>G	c.(760-762)tAc>tGc	p.Y254C	CAPN5_ENST00000456580.2_Missense_Mutation_p.Y294C|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Missense_Mutation_p.Y254C	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	254	Calpain catalytic.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						GGCCACGCATACGCCGTCACT	0.642000													8	17					0	0	1	0	0
TMEM144	55314	broad.mit.edu	37	4	159174635	159174635	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:159174635A>G	ENST00000296529.6	+	13	1514	c.994A>G	c.(994-996)Atc>Gtc	p.I332V	TMEM144_ENST00000503404.1_3'UTR	NM_018342.4	NP_060812.2	Q7Z5S9	TM144_HUMAN	transmembrane protein 144	332						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		TGCATTTTGCATCATCTTGAC	0.378000													27	62					0	0	1	0	0
ARHGEF18	23370	broad.mit.edu	37	19	7518383	7518383	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:7518383A>T	ENST00000359920.6	+	7	1575	c.1322A>T	c.(1321-1323)cAg>cTg	p.Q441L	CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.R399W|ARHGEF18_ENST00000319670.9_Missense_Mutation_p.Q283L	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	441	DH.				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				GACCTGACCCAGGCCTTGAAC	0.507000													21	88					0	0	1	0	0
NFAT5	10725	broad.mit.edu	37	16	69729203	69729203	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr16:69729203C>A	ENST00000349945.1	+	15	5849	c.4297C>A	c.(4297-4299)Cag>Aag	p.Q1433K	NFAT5_ENST00000567239.1_Missense_Mutation_p.Q1526K|NFAT5_ENST00000566899.1_Missense_Mutation_p.Q1433K|NFAT5_ENST00000354436.2_Missense_Mutation_p.Q1509K|NFAT5_ENST00000432919.1_Missense_Mutation_p.Q1527K|NFAT5_ENST00000393742.2_Missense_Mutation_p.Q1433K	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	1509					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						AAACACCAACCAGAACATCGA	0.438000													45	0					1.53716e-24	1.77633e-24	1	1	0
GRM2	2912	broad.mit.edu	37	3	51746972	51746972	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:51746972G>A	ENST00000395052.3	+	3	1168	c.934G>A	c.(934-936)Gag>Aag	p.E312K	GRM2_ENST00000442933.2_Missense_Mutation_p.E312K|GRM2_ENST00000475478.1_Intron	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	312					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	GGGGGCTGCTGAGGGTGCTAT	0.627000													39	23					0	0	1	0	0
CLCNKA	1187	broad.mit.edu	37	1	16353844	16353844	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:16353844C>A	ENST00000375692.1	+	9	823	c.695C>A	c.(694-696)tCt>tAt	p.S232Y	CLCNKA_ENST00000331433.4_Missense_Mutation_p.S232Y|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000420078.1_Missense_Mutation_p.S232Y|CLCNKA_ENST00000439316.2_Missense_Mutation_p.S189Y			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	232					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	TCCCACTTCTCTGTCCGGGAT	0.647000													57	4					3.00167e-28	3.487e-28	1	1	0
ACIN1	22985	broad.mit.edu	37	14	23528466	23528466	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:23528466C>T	ENST00000262710.1	-	19	4244	c.3917G>A	c.(3916-3918)aGg>aAg	p.R1306K	ACIN1_ENST00000397341.3_Missense_Mutation_p.R548K|ACIN1_ENST00000338631.6_Missense_Mutation_p.R579K|ACIN1_ENST00000357481.2_Missense_Mutation_p.R548K|ACIN1_ENST00000457657.1_Missense_Mutation_p.R1266K|ACIN1_ENST00000555053.1_Missense_Mutation_p.R1293K|ACIN1_ENST00000605057.1_Missense_Mutation_p.R1248K|ACIN1_ENST00000557515.1_Missense_Mutation_p.R547K	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1306	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GTCCCTTTCCCTATCCCGATC	0.652000											OREG0022595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	95					0	0	1	0	0
VSIG10	54621	broad.mit.edu	37	12	118511557	118511557	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:118511557C>G	ENST00000359236.5	-	5	1442	c.1166G>C	c.(1165-1167)cGa>cCa	p.R389P		NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	389	Ig-like C2-type 4.					integral to membrane				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						GCTGTCAGCTCGGCAGATGTA	0.577000													48	36					0	0	1	0	0
UBA3	9039	broad.mit.edu	37	3	69113226	69113226	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:69113226G>A	ENST00000361055.4	-	7	519	c.465C>T	c.(463-465)ttC>ttT	p.F155F	UBA3_ENST00000349511.4_Silent_p.F141F|UBA3_ENST00000540295.1_Intron|UBA3_ENST00000415609.2_Silent_p.F114F	NM_003968.3	NP_003959.3	Q8TBC4	UBA3_HUMAN	ubiquitin-like modifier activating enzyme 3	155					protein neddylation|proteolysis	nucleus	acid-amino acid ligase activity|ATP binding|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)		TACGTCGATAGAAAGTGTCGT	0.289000													6	7					0	0	1	0	0
PRKD2	25865	broad.mit.edu	37	19	47178362	47178362	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:47178362G>C	ENST00000433867.1	-	18	2829	c.2352C>G	c.(2350-2352)atC>atG	p.I784M	PRKD2_ENST00000600194.1_Missense_Mutation_p.I627M|DACT3-AS1_ENST00000525008.1_RNA|PRKD2_ENST00000291281.4_Missense_Mutation_p.I784M|PRKD2_ENST00000595515.1_Missense_Mutation_p.I794M|PRKD2_ENST00000601806.1_Missense_Mutation_p.I627M	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349|NP_001073350|NP_057541	Q9BZL6	KPCD2_HUMAN	protein kinase D2	784	Protein kinase.				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GCAGGTTGTTGATGAGGTCAA	0.572000													13	0					0	0	1	0	0
SLC30A3	7781	broad.mit.edu	37	2	27480167	27480167	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:27480167C>T	ENST00000233535.4	-	5	984	c.632G>A	c.(631-633)gGa>gAa	p.G211E	SLC30A3_ENST00000447008.2_Missense_Mutation_p.G206E	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	211					regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATACTCTGCTCCCCTAGACCC	0.677000													4	11					0	0	1	0	0
CEACAM21	90273	broad.mit.edu	37	19	42092192	42092192	+	Splice_Site	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:42092192G>A	ENST00000407170.2	+	7	1279		c.e7-1		CEACAM21_ENST00000401445.2_Splice_Site|CEACAM21_ENST00000187608.9_Splice_Site|CEACAM21_ENST00000482870.2_Intron			Q3KPI0	CEA21_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 21							integral to membrane				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						TCTGTCCCCAGGCCATGGACC	0.587000													15	1					0	0	1	0	0
ID1	3397	broad.mit.edu	37	20	30193268	30193268	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr20:30193268C>G	ENST00000376105.3	+	1	177	c.78C>G	c.(76-78)agC>agG	p.S26R	ID1_ENST00000376112.3_Missense_Mutation_p.S26R	NM_181353.2	NP_851998.1	P41134	ID1_HUMAN	inhibitor of DNA binding 1, dominant negative helix-loop-helix protein	26					angiogenesis|blood vessel endothelial cell migration|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by transcription factor localization|transforming growth factor beta receptor signaling pathway	cytoplasm	protein binding			endometrium(2)|ovary(1)|pancreas(1)	4	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.99e-05)|all cancers(5;0.000169)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			AGACAGCGAGCGGTGCGGGCG	0.726000													6	15					0	0	1	0	0
ENOX2	10495	broad.mit.edu	37	X	129801714	129801714	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chrX:129801714C>A	ENST00000338144.3	-	9	1201	c.784G>T	c.(784-786)Gat>Tat	p.D262Y	ENOX2_ENST00000394363.1_Missense_Mutation_p.D233Y|ENOX2_ENST00000370935.1_Missense_Mutation_p.D233Y|ENOX2_ENST00000370927.1_Missense_Mutation_p.D262Y	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	262					cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						AATTTGGAATCATCTGAAAAA	0.403000													5	10					5.9392e-07	6.19213e-07	1	1	0
ANKFY1	51479	broad.mit.edu	37	17	4098254	4098254	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:4098254C>T	ENST00000433651.1	-	10	1428	c.1391G>A	c.(1390-1392)cGa>cAa	p.R464Q	ANKFY1_ENST00000574367.1_Intron|ANKFY1_ENST00000570535.1_Intron|ANKFY1_ENST00000341657.4_Intron			Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	464						endosome membrane	metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						GTCGCCCCTTCGGGAGGCACG	0.532000													15	13					0	0	1	0	0
COX6A2	1339	broad.mit.edu	37	16	31439103	31439103	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr16:31439103G>T	ENST00000287490.4	-	3	388	c.286C>A	c.(286-288)Cac>Aac	p.H96N		NM_005205.3	NP_005196.1	Q02221	CX6A2_HUMAN	cytochrome c oxidase subunit VIa polypeptide 2	96					generation of precursor metabolites and energy	mitochondrial respiratory chain complex IV	cytochrome-c oxidase activity			endometrium(2)|large_intestine(2)|lung(1)	5						CCTCAGGGGTGTTCGTAGCCC	0.682000													5	8					2.7689e-08	2.90976e-08	1	1	0
SMTNL1	219537	broad.mit.edu	37	11	57313802	57313802	+	Silent	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:57313802C>A	ENST00000457912.1	+	6	1224	c.1224C>A	c.(1222-1224)gcC>gcA	p.A408A	SMTNL1_ENST00000527972.1_Silent_p.A390A|SMTNL1_ENST00000399154.2_Silent_p.A353A			E9PPJ3	E9PPJ3_HUMAN	smoothelin-like 1	390										endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						GGTGCCGAGCCATGACAAAAA	0.622000													9	14					0.0135373	0.0137452	1	1	0
ICA1	3382	broad.mit.edu	37	7	8196838	8196838	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:8196838G>C	ENST00000402384.3	-	8	978	c.712C>G	c.(712-714)Ctg>Gtg	p.L238V	ICA1_ENST00000401396.1_Missense_Mutation_p.L226V|ICA1_ENST00000265577.7_Missense_Mutation_p.L237V|ICA1_ENST00000422063.2_Missense_Mutation_p.L238V|ICA1_ENST00000396675.3_Missense_Mutation_p.L238V|ICA1_ENST00000406470.2_Missense_Mutation_p.L238V|ICA1_ENST00000407906.1_Missense_Mutation_p.L238V			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	238	AH.				neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		AAATGAAGCAGAGTGGTCTGC	0.393000													8	40					0	0	1	0	0
PDE5A	8654	broad.mit.edu	37	4	120527872	120527872	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:120527872C>A	ENST00000354960.3	-	2	1052	c.733G>T	c.(733-735)Gca>Tca	p.A245S	PDE5A_ENST00000264805.5_Missense_Mutation_p.A203S|PDE5A_ENST00000394439.1_Missense_Mutation_p.A193S	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	245	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	ACCTCATATGCATCTTTGATG	0.507000													39	44					2.29192e-23	2.6393e-23	1	1	0
MRPS18C	51023	broad.mit.edu	37	4	84382165	84382165	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:84382165T>A	ENST00000295491.4	+	5	445	c.332T>A	c.(331-333)aTt>aAt	p.I111N	MRPS18C_ENST00000507349.1_Missense_Mutation_p.L64I|FAM175A_ENST00000321945.7_3'UTR|MRPS18C_ENST00000507019.1_Missense_Mutation_p.I83N	NM_016067.2	NP_057151.1	Q9Y3D5	RT18C_HUMAN	mitochondrial ribosomal protein S18C	111					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5		Hepatocellular(203;0.114)				ACAAAAGCAATTAAGAGAGCT	0.279000													7	23					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179396043	179396043	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:179396043G>A	ENST00000589042.1	-	358	105523	c.105299C>T	c.(105298-105300)gCa>gTa	p.A35100V	TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A32532V|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A26227V|TTN_ENST00000591111.1_Missense_Mutation_p.A33459V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A26160V|TTN-AS1_ENST00000589842.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A26035V|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33459							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)			TTCTGCAGATGCAGAGTGTTC	0.408000													32	10					0	0	1	0	0
ZNF236	7776	broad.mit.edu	37	18	74580691	74580691	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr18:74580691G>A	ENST00000253159.8	+	4	606	c.408G>A	c.(406-408)ctG>ctA	p.L136L	ZNF236_ENST00000320610.9_Silent_p.L138L|ZNF236_ENST00000583095.1_3'UTR	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	136					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		AGAGTCAGCTGGCCGTGCACA	0.557000													78	72					0	0	1	0	0
USP37	57695	broad.mit.edu	37	2	219324581	219324581	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:219324581C>G	ENST00000258399.3	-	23	2987	c.2575G>C	c.(2575-2577)Gga>Cga	p.G859R	USP37_ENST00000454775.1_Missense_Mutation_p.G859R|USP37_ENST00000418019.1_Missense_Mutation_p.G859R|USP37_ENST00000415516.1_Missense_Mutation_p.G765R	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	859					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		TCCTCATTTCCAGAGTCCTCA	0.378000													60	3					0	0	1	0	0
PCDHB16	57717	broad.mit.edu	37	5	140563833	140563833	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:140563833A>G	ENST00000361016.2	+	1	2854	c.1699A>G	c.(1699-1701)Aac>Gac	p.N567D		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		567					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCGCTGCAGAACGGCTCCGC	0.711000													20	86					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137687131	137687131	+	Silent	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr9:137687131C>G	ENST00000371817.3	+	34	3183	c.2769C>G	c.(2767-2769)ccC>ccG	p.P923P		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	923	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)		AAAGAGGCCCCCGGGGCATCA	0.632000													12	63					0	0	1	0	0
ZNF507	22847	broad.mit.edu	37	19	32845599	32845599	+	Missense_Mutation	SNP	C	C	G	rs139741881	by1000genomes	TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:32845599C>G	ENST00000311921.4	+	2	2055	c.1863C>G	c.(1861-1863)agC>agG	p.S621R	ZNF507_ENST00000355898.5_Missense_Mutation_p.S621R|ZNF507_ENST00000544431.1_Missense_Mutation_p.S621R	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					AACCCAACAGCGATACAAGTT	0.488000													12	165					0	0	1	0	0
FBXO18	84893	broad.mit.edu	37	10	5951204	5951204	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr10:5951204G>A	ENST00000379999.5	+	6	1224	c.1120G>A	c.(1120-1122)Gag>Aag	p.E374K	FBXO18_ENST00000362091.4_Missense_Mutation_p.E323K|FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000470089.1_3'UTR	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	323					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						CCTCCTCCCCGAGGCTGAGGC	0.617000													50	22					0	0	1	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798291	55798291	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:55798291A>G	ENST00000313555.1	+	1	397	c.397A>G	c.(397-399)Act>Gct	p.T133A		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					ACTGCTCTATACTACACTGAT	0.463000													33	25					0	0	1	0	0
B4GALNT3	283358	broad.mit.edu	37	12	662804	662804	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:662804A>T	ENST00000266383.5	+	14	1728	c.1715A>T	c.(1714-1716)cAg>cTg	p.Q572L		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	572						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			ATCGCAGAGCAGAGACGGGGT	0.662000													24	23					0	0	1	0	0
CASK	8573	broad.mit.edu	37	X	41437603	41437603	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chrX:41437603T>C	ENST00000318588.9	-	15	1538	c.1493A>G	c.(1492-1494)gAt>gGt	p.D498G	CASK_ENST00000378154.1_Missense_Mutation_p.D498G|CASK_ENST00000442742.2_Missense_Mutation_p.D498G|CASK_ENST00000378163.1_Missense_Mutation_p.D498G|CASK_ENST00000378166.4_Missense_Mutation_p.D498G|CASK_ENST00000378158.1_Missense_Mutation_p.D498G|CASK_ENST00000421587.2_Missense_Mutation_p.D492G|CASK_ENST00000472704.1_5'UTR|CASK_ENST00000361962.4_Missense_Mutation_p.D498G			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	498	PDZ.				cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						CATTGGTTCATCTGTGTTCTT	0.413000													36	0					0	0	1	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68264756	68264756	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:68264756C>G	ENST00000347230.4	-	11	2361	c.2223G>C	c.(2221-2223)aaG>aaC	p.K741N	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.K741N	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	741					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TTGTCACCACCTTGTGTCTCC	0.542000													83	36					0	0	1	0	0
BUB1	699	broad.mit.edu	37	2	111423892	111423892	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:111423892T>G	ENST00000535254.1	-	8	912	c.845A>C	c.(844-846)cAg>cCg	p.Q282P	BUB1_ENST00000409311.1_Missense_Mutation_p.Q302P|BUB1_ENST00000302759.6_Missense_Mutation_p.Q302P	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	302					apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		CTCCACCACCTGATGCAACTT	0.443000													18	19					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55782693	55782693	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr10:55782693C>T	ENST00000373965.2	-	20	2900	c.2506G>A	c.(2506-2508)Gaa>Aaa	p.E836K	PCDH15_ENST00000361849.3_Missense_Mutation_p.E829K|PCDH15_ENST00000373955.1_Missense_Mutation_p.E829K|PCDH15_ENST00000395438.1_Missense_Mutation_p.E829K|PCDH15_ENST00000437009.1_Missense_Mutation_p.E758K|PCDH15_ENST00000395432.2_Missense_Mutation_p.E792K|PCDH15_ENST00000320301.6_Missense_Mutation_p.E829K|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.E807K|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.E440K|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.E829K|PCDH15_ENST00000414778.1_Missense_Mutation_p.E834K|PCDH15_ENST00000395445.1_Missense_Mutation_p.E836K	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	829	Cadherin 8.				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)				AAATTCTCTTCAACAAGGACA	0.408000										HNSCC(58;0.16)			99	5					0	0	1	0	0
CEP112	201134	broad.mit.edu	37	17	63848079	63848079	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:63848079T>G	ENST00000392769.2	-	21	2455	c.2237A>C	c.(2236-2238)cAg>cCg	p.Q746P	CEP112_ENST00000541355.1_Missense_Mutation_p.Q381P|CEP112_ENST00000580482.1_5'UTR|CEP112_ENST00000535342.2_Missense_Mutation_p.Q746P|CEP112_ENST00000537949.1_Missense_Mutation_p.Q704P	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	746						centrosome				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						TACCAGCTGCTGTTTCCGCTG	0.433000													30	15					0	0	1	0	0
PPAN	56342	broad.mit.edu	37	19	10225253	10225253	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:10225253A>G	ENST00000556468.1	+	13	2251	c.2224A>G	c.(2224-2226)Atg>Gtg	p.M742V	PPAN-P2RY11_ENST00000428358.1_3'UTR|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.M742V|P2RY11_ENST00000321826.4_Missense_Mutation_p.M322V					peter pan homolog (Drosophila)											endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			TCTACTCTACATGGCCGCAGT	0.682000													21	89					0	0	1	0	0
SNX19	399979	broad.mit.edu	37	11	130785171	130785171	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:130785171C>T	ENST00000265909.4	-	1	1233	c.664G>A	c.(664-666)Ggg>Agg	p.G222R	SNX19_ENST00000533214.1_Missense_Mutation_p.G222R|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000528555.1_Intron	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	222	PXA.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		GGCACCAGCCCTTGAAGCAAC	0.567000													14	12					0	0	1	0	0
C22orf29	79680	broad.mit.edu	37	22	19838758	19838758	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr22:19838758C>T	ENST00000405640.1	-	2	1695	c.1027G>A	c.(1027-1029)Ggt>Agt	p.G343S	GNB1L_ENST00000460402.1_Intron|C22orf29_ENST00000328554.4_Missense_Mutation_p.G343S|C22orf29_ENST00000484072.1_Intron|GNB1L_ENST00000329517.6_Intron|GNB1L_ENST00000403325.1_Intron|C22orf29_ENST00000407472.1_Missense_Mutation_p.G343S|GNB1L_ENST00000405009.1_Intron			Q7L3V2	CV029_HUMAN	chromosome 22 open reading frame 29	343										NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7	Colorectal(54;0.0993)					TGTGGGGTACCTAAGGACACC	0.602000													4	2					0	0	1	0	0
GOLT1A	127845	broad.mit.edu	37	1	204170901	204170901	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:204170901C>T	ENST00000308302.3	-	3	341	c.156G>A	c.(154-156)ctG>ctA	p.L52L		NM_198447.1	NP_940849.1	Q6ZVE7	GOT1A_HUMAN	golgi transport 1A	52					protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane				kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			AGGTCTTCCTCAGGCCAATGA	0.592000													66	24					0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88780576	88780576	+	Silent	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:88780576G>T	ENST00000418177.2	-	2	832	c.465C>A	c.(463-465)gcC>gcA	p.A155A	GRM5_ENST00000305432.5_Silent_p.A155A|GRM5_ENST00000305447.4_Silent_p.A155A|GRM5_ENST00000393297.1_Silent_p.A155A|GRM5_ENST00000455756.2_Silent_p.A155A|GRM5_ENST00000393294.3_Silent_p.A155A			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	155					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)	GGACCTGAATGGCTACAGAAC	0.493000													27	21					7.11191e-15	7.88753e-15	1	1	0
NES	10763	broad.mit.edu	37	1	156640230	156640230	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:156640230C>T	ENST00000368223.3	-	4	3882	c.3750G>A	c.(3748-3750)caG>caA	p.Q1250Q		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1250	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CAGCCCTCCCCTGCACCCCCC	0.662000													49	216					0	0	1	0	0
OGFRL1	79627	broad.mit.edu	37	6	72011571	72011571	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:72011571G>A	ENST00000370435.4	+	7	1309	c.1175G>A	c.(1174-1176)aGa>aAa	p.R392K	RP11-154D6.1_ENST00000586232.1_RNA|RP11-154D6.1_ENST00000588612.1_RNA|RP11-154D6.1_ENST00000423255.1_RNA|RP11-154D6.1_ENST00000432050.1_RNA|RP11-154D6.1_ENST00000412751.1_RNA|RP11-154D6.1_ENST00000591156.1_RNA|RP3-331H24.5_ENST00000602823.1_lincRNA|RP11-154D6.1_ENST00000587253.1_RNA|RP11-154D6.1_ENST00000586030.1_RNA	NM_024576.3	NP_078852.3	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	392						membrane	receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						GCCAAGCCAAGAAATACAGAG	0.448000													9	14					0	0	1	0	0
PRSS57	400668	broad.mit.edu	37	19	691938	691938	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:691938G>T	ENST00000329267.7	-	3	330	c.301C>A	c.(301-303)Cag>Aag	p.Q101K		NM_214710.3	NP_999875	Q6UWY2	PRS57_HUMAN	protease, serine, 57	101	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|lung(5)	6						CCAAACACCTGCTGGGTGGGC	0.672000													16	23					6.94344e-10	7.41457e-10	1	1	0
GIGYF1	64599	broad.mit.edu	37	7	100280767	100280767	+	Silent	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr7:100280767G>C	ENST00000275732.5	-	19	3489	c.2280C>G	c.(2278-2280)ctC>ctG	p.L760L		NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	760										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GGCCAGCCCAGAGTGGGGGCG	0.677000													8	1					0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111441503	111441503	+	Missense_Mutation	SNP	C	C	G	rs138043602	byFrequency	TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:111441503C>G	ENST00000265162.5	+	10	2050	c.1708C>G	c.(1708-1710)Cag>Gag	p.Q570E		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	570					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	TAACCCTTCTCAGCCCCCTTC	0.413000													21	18					0	0	1	0	0
NHS	4810	broad.mit.edu	37	X	17739625	17739625	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chrX:17739625A>G	ENST00000380060.3	+	4	1255	c.917A>G	c.(916-918)cAc>cGc	p.H306R	NHS_ENST00000485305.1_3'UTR|NHS_ENST00000398097.3_Missense_Mutation_p.H150R	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	306						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					AACCCAATACACAATATCCCT	0.483000													67	2					0	0	1	0	0
ZNF334	55713	broad.mit.edu	37	20	45130608	45130608	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr20:45130608C>A	ENST00000457685.2	-	6	2579	c.1256G>T	c.(1255-1257)gGa>gTa	p.G419V	ZNF334_ENST00000593880.1_Missense_Mutation_p.G480V|ZNF334_ENST00000347606.4_Missense_Mutation_p.G457V			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	457					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				AGACTTCTTTCCTCTATGAGT	0.388000													13	63					1.3612e-06	1.41694e-06	1	1	0
DNAH12	201625	broad.mit.edu	37	3	57496605	57496605	+	Silent	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:57496605T>C	ENST00000351747.2	-	5	561	c.381A>G	c.(379-381)ttA>ttG	p.L127L	DNAH12_ENST00000389536.4_Silent_p.L127L|DNAH12_ENST00000311202.6_Silent_p.L127L	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	127	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						TCCCTTCCTTTAAAGACTCAG	0.368000													31	12					0	0	1	0	0
PIWIL2	55124	broad.mit.edu	37	8	22147366	22147366	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr8:22147366G>T	ENST00000356766.6	+	9	1141	c.993G>T	c.(991-993)atG>atT	p.M331I	PIWIL2_ENST00000521356.1_Missense_Mutation_p.M331I|PIWIL2_ENST00000454009.2_Missense_Mutation_p.M331I	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	331					DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		TCAGGGTAATGAAACTTTTAG	0.358000													5	6					0.0215528	0.021717	1	1	0
OR2T10	127069	broad.mit.edu	37	1	248756394	248756394	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:248756394G>C	ENST00000330500.2	-	1	706	c.676C>G	c.(676-678)Cat>Gat	p.H226D		NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	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)			TTCATCTTATGGATGGTGAGG	0.443000													22	78					0	0	1	0	0
NELL2	4753	broad.mit.edu	37	12	44926364	44926364	+	Splice_Site	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:44926364C>T	ENST00000429094.2	-	16	2308	c.1804G>A	c.(1804-1806)Gat>Aat	p.D602N	NELL2_ENST00000437801.2_Splice_Site_p.D652N|NELL2_ENST00000551601.1_Intron|NELL2_ENST00000333837.4_Splice_Site_p.D625N|NELL2_ENST00000549027.1_Splice_Site_p.D601N|NELL2_ENST00000395487.2_Splice_Site_p.D601N|NELL2_ENST00000452445.2_Splice_Site_p.D602N	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	602	EGF-like 6; calcium-binding (Potential).				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	p.D602N(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TTGTACTGACCTTCACACGAT	0.403000													75	67					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166246148	166246148	+	Silent	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr2:166246148C>A	ENST00000375437.2	+	27	6122	c.5832C>A	c.(5830-5832)ccC>ccA	p.P1944P	SCN2A_ENST00000375427.2_Silent_p.P1944P|SCN2A_ENST00000283256.6_Silent_p.P1944P|SCN2A_ENST00000357398.3_Silent_p.P1944P	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1944					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)	ATGGAACACCCATCAAAGAAG	0.403000													35	13					5.2432e-18	5.93452e-18	1	1	0
STAG1	10274	broad.mit.edu	37	3	136085925	136085925	+	Splice_Site	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:136085925C>G	ENST00000383202.2	-	25	2802		c.e25-1		STAG1_ENST00000236698.5_Splice_Site|STAG1_ENST00000434713.2_Splice_Site|STAG1_ENST00000536929.1_Splice_Site	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1						cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TCATCACCCTCTAAACACAGA	0.299000													22	119					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90106817	90106817	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:90106817G>A	ENST00000405460.2	+	74	15836	c.15740G>A	c.(15739-15741)aGa>aAa	p.R5247K	GPR98_ENST00000425867.2_Missense_Mutation_p.R908K	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5247					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)		CTTATCCGAAGAACTGGTGGG	0.418000													31	0					0	0	1	0	0
CSHL1	1444	broad.mit.edu	37	17	61987497	61987497	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:61987497T>A	ENST00000450719.3	-	3	451	c.214A>T	c.(214-216)Aat>Tat	p.N72Y	CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000561003.1_Missense_Mutation_p.N83Y|CSHL1_ENST00000392824.4_3'UTR|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000309894.5_Intron|CSHL1_ENST00000346606.6_Intron			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	0						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						CTTCCAGGATTGGGGACCCCT	0.567000													28	41					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105410488	105410488	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:105410488G>A	ENST00000333244.5	-	7	11419	c.11300C>T	c.(11299-11301)cCc>cTc	p.P3767L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3767						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)			CTCCACGCTGGGCAGAGACAC	0.617000													82	97					0	0	1	0	0
DOT1L	84444	broad.mit.edu	37	19	2216762	2216762	+	Silent	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:2216762G>A	ENST00000398665.3	+	20	2442	c.2406G>A	c.(2404-2406)tcG>tcA	p.S802S		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	802						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCTGCATTCGAGGTGAGTGC	0.652000													23	96					0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71347138	71347138	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:71347138C>T	ENST00000413702.1	+	4	965	c.677C>T	c.(676-678)cCa>cTa	p.P226L	MUC7_ENST00000304887.5_Missense_Mutation_p.P226L|MUC7_ENST00000456088.1_Missense_Mutation_p.P226L	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	226	Thr-rich.					extracellular region	protein binding	p.P226L(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CCAGCTCCACCATCTTCCTCA	0.582000													5	244					0	0	1	0	0
OR4C3	256144	broad.mit.edu	37	11	48346740	48346740	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:48346740C>T	ENST00000319856.4	+	1	269	c.248C>T	c.(247-249)cCt>cTt	p.P83L		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						CTGGCTTCCCCTGTGTATTTT	0.458000													3	35					0	0	1	0	0
RASGEF1B	153020	broad.mit.edu	37	4	82355883	82355883	+	Silent	SNP	C	C	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:82355883C>T	ENST00000509081.1	-	11	1328	c.1107G>A	c.(1105-1107)gtG>gtA	p.V369V	RASGEF1B_ENST00000335927.7_Silent_p.V328V|RASGEF1B_ENST00000264400.2_Silent_p.V370V			Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	370	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						AGAATGGTATCACAATCTAGA	0.358000													7	5					0	0	1	0	0
PAQR9	344838	broad.mit.edu	37	3	142681984	142681984	+	Silent	SNP	A	A	T			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:142681984A>T	ENST00000340634.3	-	1	194	c.195T>A	c.(193-195)cgT>cgA	p.R65R	RP11-372E1.6_ENST00000594095.1_RNA|RP11-372E1.6_ENST00000608686.1_RNA	NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	65						integral to membrane	receptor activity			endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						TGCACGGCAGACGCCGGTAGC	0.667000													13	4					0	0	1	0	0
ZNF878	729747	broad.mit.edu	37	19	12155673	12155673	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:12155673A>C	ENST00000602107.1	-	5	683	c.684T>G	c.(682-684)agT>agG	p.S228R	CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|ZNF878_ENST00000547628.1_Missense_Mutation_p.S181R|CTD-2006C1.2_ENST00000591898.1_RNA			C9JN71	ZN878_HUMAN	zinc finger protein 878	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AACTGGGAAAACTGAATGCTT	0.403000													8	179					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34083156	34083156	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:34083156C>A	ENST00000373381.4	-	38	6065	c.5889G>T	c.(5887-5889)gaG>gaT	p.E1963D	CSMD2_ENST00000373380.1_Missense_Mutation_p.E836D|CSMD2_ENST00000373377.1_Missense_Mutation_p.E62D|CSMD2_ENST00000373388.2_Missense_Mutation_p.E62D	NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1923	Sushi 11.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCAAGTAGCGCTCGCCAGTCT	0.567000													30	1					4.3181e-19	4.92114e-19	1	1	0
HDAC7	51564	broad.mit.edu	37	12	48191920	48191920	+	Silent	SNP	G	G	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:48191920G>C	ENST00000080059.7	-	5	431	c.432C>G	c.(430-432)gtC>gtG	p.V144V	HDAC7_ENST00000354334.3_Silent_p.V144V|HDAC7_ENST00000427332.2_Silent_p.V105V|HDAC7_ENST00000552960.1_Silent_p.V127V|HDAC7_ENST00000380610.4_Silent_p.V161V	NM_015401.3	NP_056216.2	Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	105	Interaction with MEF2A (By similarity).|Transcription repression 1 (By similarity).				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		TGTTGGGATGGACTGTTCTTT	0.602000													188	214					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92532922	92532922	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:92532922A>G	ENST00000298047.6	+	9	6760	c.6743A>G	c.(6742-6744)tAt>tGt	p.Y2248C	FAT3_ENST00000525166.1_Missense_Mutation_p.Y2098C|FAT3_ENST00000409404.2_Missense_Mutation_p.Y2248C			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2248	Cadherin 20.				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)				CCTTTGGATTATGAAGTTACA	0.423000										TCGA Ovarian(4;0.039)			9	4					0	0	1	0	0
TLE3	7090	broad.mit.edu	37	15	70389121	70389121	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr15:70389121C>G	ENST00000558939.1	-	1	1394	c.17G>C	c.(16-18)aGa>aCa	p.R6T	TLE3_ENST00000559191.1_Intron|TLE3_ENST00000317509.8_Missense_Mutation_p.R6T|TLE3_ENST00000558379.1_Missense_Mutation_p.R6T|TLE3_ENST00000451782.2_Missense_Mutation_p.R6T|TLE3_ENST00000442299.2_Missense_Mutation_p.R6T|TLE3_ENST00000557997.1_Missense_Mutation_p.R6T|TLE3_ENST00000557907.1_Missense_Mutation_p.R6T|TLE3_ENST00000559929.1_Missense_Mutation_p.R6T	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN	transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)	6	Gln-rich.				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CACCGGATGTCTGCCCTGCGG	0.592000													9	29					0	0	1	0	0
ARHGAP12	94134	broad.mit.edu	37	10	32197606	32197606	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr10:32197606T>C	ENST00000375250.5	-	3	419	c.178A>G	c.(178-180)Aaa>Gaa	p.K60E	ARHGAP12_ENST00000375245.4_Missense_Mutation_p.K60E|ARHGAP12_ENST00000396144.4_Missense_Mutation_p.K60E|ARHGAP12_ENST00000344936.2_Missense_Mutation_p.K60E|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.K60E	NM_001270696.1|NM_001270698.1	NP_001257625.1|NP_001257627.1	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	60	SH3.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				TAAAACGCTTTGGAGTTTTCA	0.468000													10	6					0	0	1	0	0
SLC6A7	6534	broad.mit.edu	37	5	149585112	149585112	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:149585112G>A	ENST00000230671.2	+	13	1998	c.1627G>A	c.(1627-1629)Ggc>Agc	p.G543S	SLC6A7_ENST00000524041.1_Missense_Mutation_p.G543S	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	543						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	CATCCTGATGGGCCTGCTGTC	0.612000													60	47					0	0	1	0	0
POLR3GL	84265	broad.mit.edu	37	1	145457040	145457042	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:145457040_145457042delTCT	ENST00000369314.1	-	7	625_627	c.519_521delAGA	c.(517-522)gaagag>gag	p.173_174EE>E	POLR3GL_ENST00000369313.3_In_Frame_Del_p.150_151EE>E	NM_032305.1	NP_115681.1	Q9BT43	RPC7L_HUMAN	polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like	173	Glu-rich.									endometrium(2)|large_intestine(1)|lung(1)	4	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ctcttccttctcttcttcttctt	0.448													5	9	---	---	---	---					
CEP350	9857	broad.mit.edu	37	1	180053254	180053254	+	Frame_Shift_Del	DEL	A	A	-			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:180053254delA	ENST00000367607.3	+	31	6644	c.6226delA	c.(6226-6228)aaafs	p.K2077fs		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2077						centrosome|nucleus|spindle		p.R2078fs*6(2)		central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GAAGGAACAGAAAAAAAGGCA	0.423													2	4	---	---	---	---					
OR6F1	343169	broad.mit.edu	37	1	247875413	247875414	+	Frame_Shift_Del	DEL	AA	AA	-	rs147403383		TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr1:247875413_247875414delAA	ENST00000302084.2	-	1	691_692	c.644_645delTT	c.(643-645)tttfs	p.F215fs	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	215			F -> L (in dbSNP:rs2282316).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	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;0.0168)			CATAGGAGACAAAGGTGATGAG	0.559													136	96	---	---	---	---					
CCDC37	348807	broad.mit.edu	37	3	126154466	126154467	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr3:126154466_126154467delGC	ENST00000393425.1	+	16	1795_1796	c.1696_1697delGC	c.(1696-1698)gcgfs	p.A566fs	CCDC37_ENST00000506204.1_3'UTR|CCDC37_ENST00000505024.1_Frame_Shift_Del_p.A566fs|CCDC37_ENST00000352312.1_Frame_Shift_Del_p.A565fs			Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	565								p.A565V(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		GCGGGCCCGGGCGCGCGCCCAG	0.599													17	24	---	---	---	---					
FAT1	2195	broad.mit.edu	37	4	187541806	187541807	+	Frame_Shift_Ins	INS	-	-	TTTAGGTGACT			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr4:187541806_187541807insTTTAGGTGACT	ENST00000441802.2	-	10	6142_6143	c.5933_5934insAGTCACCTAAA	c.(5932-5934)aagfs	p.-1978fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1						actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CCTGGGTAAACTTTAGGTGACT	0.450										HNSCC(5;0.00058)			10	231	---	---	---	---					
LOC643201	643201	broad.mit.edu	37	5	175573961	175573961	+	RNA	DEL	G	G	-			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr5:175573961delG	ENST00000515403.1	-	0	2800				RP11-826N14.4_ENST00000510029.1_lincRNA	NR_036494.1																						GGGGAGGACTGAGGGTACCTG	0.478													2	4	---	---	---	---					
TRDN	10345	broad.mit.edu	37	6	123892184	123892185	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr6:123892184_123892185delTC	ENST00000334268.4	-	2	432_433	c.115_116delGA	c.(115-117)gacfs	p.D39fs	TRDN_ENST00000398178.3_Frame_Shift_Del_p.D39fs|TRDN_ENST00000542443.1_Frame_Shift_Del_p.D39fs|TRDN_ENST00000546248.1_Frame_Shift_Del_p.D39fs			Q13061	TRDN_HUMAN	triadin	39					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding	p.D39Y(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		CGTCACTATGTCTTCTGTGACT	0.470													29	27	---	---	---	---					
ATG2A	23130	broad.mit.edu	37	11	64679559	64679560	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:64679559_64679560delGT	ENST00000421419.2	-	8	1198_1199	c.1084_1085delAC	c.(1084-1086)actfs	p.T362fs	ATG2A_ENST00000377264.3_Frame_Shift_Del_p.T362fs			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	362							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						ACACCCACCAGTGTTATCCAGG	0.639													17	99	---	---	---	---					
USP28	57646	broad.mit.edu	37	11	113694349	113694350	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr11:113694349_113694350delTT	ENST00000003302.4	-	12	1328_1329	c.1260_1261delAA	c.(1258-1263)aaaattfs	p.KI420fs	USP28_ENST00000537706.1_Frame_Shift_Del_p.KI420fs|USP28_ENST00000260188.5_Frame_Shift_Del_p.KI420fs|USP28_ENST00000544967.1_Frame_Shift_Del_p.KI128fs|USP28_ENST00000545540.1_Frame_Shift_Del_p.KI295fs	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	420					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		TGCTGCAGAATTTTTATTTCCT	0.302													25	29	---	---	---	---					
KRT2	3849	broad.mit.edu	37	12	53045603	53045604	+	In_Frame_Ins	INS	-	-	AAGCCGCTGCCACCTCCA	rs35124031		TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr12:53045603_53045604insAAGCCGCTGCCACCTCCA	ENST00000309680.3	-	1	344_345	c.323_324insTGGAGGTGGCAGCGGCTT	c.(322-324)ttc>ttTGGAGGTGGCAGCGGCTTc	p.108_108F>FGGGSGF		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	108	Head.			F -> FGGGSGF (in Ref. 1; AAC83410 and 2; AAB81946).	keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		caccaccactgaagccgctgcc	0.629													2	4	---	---	---	---					
BAZ1A	11177	broad.mit.edu	37	14	35240754	35240755	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr14:35240754_35240755delCT	ENST00000360310.1	-	21	3830_3831	c.3263_3264delAG	c.(3262-3264)gagfs	p.E1088fs	BAZ1A_ENST00000382422.2_Frame_Shift_Del_p.E1088fs|BAZ1A_ENST00000358716.4_Frame_Shift_Del_p.E1056fs	NM_013448.2	NP_038476.2	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	1088					chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		CAATGCCCTGCTCTATTTGAAA	0.366													49	166	---	---	---	---					
CSPG4	1464	broad.mit.edu	37	15	75981450	75981450	+	Frame_Shift_Del	DEL	G	G	-	rs141434179	byFrequency	TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr15:75981450delG	ENST00000308508.5	-	3	2048	c.1956delC	c.(1954-1956)gccfs	p.A652fs		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	652	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CCTTCAGCGTGGCCGGGGGGC	0.672													63	27	---	---	---	---					
IL32	9235	broad.mit.edu	37	16	3117416	3117416	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr16:3117416delG	ENST00000534507.1	+	3	265	c.54delG	c.(52-54)atgfs	p.M18fs	IL32_ENST00000396890.2_Frame_Shift_Del_p.M18fs|IL32_ENST00000526464.2_Splice_Site_p.M18fs|IL32_ENST00000529550.1_Splice_Site_p.M18fs|IL32_ENST00000008180.9_Splice_Site_p.M18fs|IL32_ENST00000551513.1_Frame_Shift_Del_p.M18fs|IL32_ENST00000533097.2_Splice_Site_p.M18fs|IL32_ENST00000552356.1_Splice_Site_p.M18fs|IL32_ENST00000444393.3_Splice_Site_p.M18fs|IL32_ENST00000548476.1_Frame_Shift_Del_p.M18fs|IL32_ENST00000528163.2_Splice_Site_p.M18fs|IL32_ENST00000530890.1_Splice_Site_p.M18fs|IL32_ENST00000440815.3_Splice_Site_p.M18fs|IL32_ENST00000325568.5_Splice_Site_p.M18fs|IL32_ENST00000552664.1_Splice_Site_p.M18fs|IL32_ENST00000529699.1_Splice_Site_p.M18fs|IL32_ENST00000548246.1_Splice_Site_p.M18fs|IL32_ENST00000382213.3_Splice_Site_p.M18fs|IL32_ENST00000549213.1_Splice_Site_p.M18fs|IL32_ENST00000525643.2_Splice_Site_p.M18fs|IL32_ENST00000531965.1_Splice_Site_p.M8fs|IL32_ENST00000396887.3_Splice_Site_p.M18fs|IL32_ENST00000530538.2_Splice_Site_p.M18fs|IL32_ENST00000548652.1_Splice_Site_p.M18fs|IL32_ENST00000552936.1_Intron|IL32_ENST00000551122.1_Splice_Site_p.M18fs			P24001	IL32_HUMAN	interleukin 32	18					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						AGGCCCGAATGGTAATGCTCC	0.552													31	61	---	---	---	---					
KAT2A	2648	broad.mit.edu	37	17	40269467	40269468	+	Frame_Shift_Ins	INS	-	-	A			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr17:40269467_40269468insA	ENST00000225916.5	-	10	1628_1629	c.1575_1576insT	c.(1573-1578)aatgtcfs	p.V526fs		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	526	N-acetyltransferase.				chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TGGGAAAAGACATTCTGCAGCC	0.644													13	58	---	---	---	---					
ZNF260	339324	broad.mit.edu	37	19	37005871	37005871	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:37005871delT	ENST00000523638.1	-	3	1391	c.270delA	c.(268-270)aaafs	p.K90fs	ZNF260_ENST00000592282.1_Frame_Shift_Del_p.K90fs|ZNF260_ENST00000588993.1_Frame_Shift_Del_p.K90fs|ZNF260_ENST00000593142.1_Frame_Shift_Del_p.K90fs	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	90					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					GGCTGAAGGCTTTTCCACATT	0.393													34	7	---	---	---	---					
RNF225	646862	broad.mit.edu	37	19	58907569	58907571	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr19:58907569_58907571delAGG	ENST00000601382.1	+	1	113_115	c.113_115delAGG	c.(112-117)caggag>cag	p.E45del		NM_001195135.1	NP_001182064.1																					GGGGAAGACCaggaggaggagga	0.724													2	4	---	---	---	---					
PDE9A	5152	broad.mit.edu	37	21	44108087	44108088	+	Frame_Shift_Ins	INS	-	-	C			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chr21:44108087_44108088insC	ENST00000291539.6	+	3	261_262	c.201_202insC	c.(202-204)cccfs	p.P68fs	PDE9A_ENST00000539837.1_Frame_Shift_Ins_p.P33fs|PDE9A_ENST00000398234.3_Frame_Shift_Ins_p.P27fs|PDE9A_ENST00000335440.6_Frame_Shift_Ins_p.A44fs|PDE9A_ENST00000398224.3_Intron|PDE9A_ENST00000335512.4_Frame_Shift_Ins_p.P68fs|PDE9A_ENST00000349112.3_Intron|PDE9A_ENST00000328862.6_Intron|PDE9A_ENST00000398227.3_Intron|PDE9A_ENST00000398229.3_Frame_Shift_Ins_p.P27fs|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398225.3_Frame_Shift_Ins_p.P27fs|PDE9A_ENST00000398232.3_Intron|PDE9A_ENST00000398236.3_Intron|PDE9A_ENST00000380328.2_Frame_Shift_Ins_p.P68fs	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	68					platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						ACCCCACCATGCCCGCGAATTC	0.574													50	7	---	---	---	---					
TENM1	10178	broad.mit.edu	37	X	123518470	123518496	+	In_Frame_Del	DEL	TTCATCACTGTAGTAGTTATGACCTGA	TTCATCACTGTAGTAGTTATGACCTGA	-			TCGA-GV-A3QI-01A-11D-A21Z-08	TCGA-GV-A3QI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a9da52-5471-456f-84cb-13c5de5b0994	59c24b21-b1e8-4752-bd0a-b48dd802643b	g.chrX:123518470_123518496delTTCATCACTGTAGTAGTTATGACCTGA	ENST00000422452.2	-	30	6348_6374	c.6285_6311delTCAGGTCATAACTACTACAGTGATGAA	c.(6283-6312)aatcaggtcataactactacagtgatgaaa>aaa	p.NQVITTTVM2095del	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_In_Frame_Del_p.NQVITTTVM2088del	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TTTGGTGTGTTTCATCACTGTAGTAGTTATGACCTGATTTAAATCGT	0.366													8	76	---	---	---	---