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
MUC16	94025	broad.mit.edu	37	19	9090293	9090293	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:9090293C>T	ENST00000397910.4	-	1	1725	c.1522G>A	c.(1522-1524)Gca>Aca	p.A508T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	508	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						GAAGTGGTTGCCCTCAGGATG	0.557000													20	58					0	0	0.007413	0	0
POTEG	404785	broad.mit.edu	37	14	19553712	19553712	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:19553712G>T	ENST00000409832.3	+	1	348	c.296G>T	c.(295-297)gGc>gTc	p.G99V		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	99										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AGCAAGATGGGCAAGTGGTGC	0.622000													51	275					1.67886e-27	1.72371e-27	0.003610	1	0
GPR149	344758	broad.mit.edu	37	3	154055547	154055547	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:154055547C>T	ENST00000389740.2	-	4	2236	c.2137G>A	c.(2137-2139)Gaa>Aaa	p.E713K		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	713						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			AACTGGATTTCCTCCTGGTAG	0.423000													39	171					0	0	0.009718	0	0
ARID2	196528	broad.mit.edu	37	12	46298784	46298784	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:46298784C>T	ENST00000334344.6	+	21	5603	c.5431C>T	c.(5431-5433)Ctt>Ttt	p.L1811F	ARID2_ENST00000457135.1_3'UTR|ARID2_ENST00000444670.1_Missense_Mutation_p.L1421F|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1811					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TTCCTCCACCCTTGCCAAATG	0.353000			"""N, S, F"""		hepatocellular carcinoma								8	32					0	0	0.003080	0	0
NTRK1	4914	broad.mit.edu	37	1	156845906	156845906	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:156845906C>T	ENST00000368196.3	+	12	1638	c.1518C>T	c.(1516-1518)ctC>ctT	p.L506L	NTRK1_ENST00000358660.3_Silent_p.L509L|NTRK1_ENST00000392302.2_Silent_p.L476L|NTRK1_ENST00000524377.1_Silent_p.L512L	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	512					activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	ACATCGTGCTCAAGTGGGAGC	0.622000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			119	81					0	0	0.003610	0	0
CPT1A	1374	broad.mit.edu	37	11	68560846	68560846	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:68560846G>A	ENST00000265641.5	-	9	1058	c.904C>T	c.(904-906)Cca>Tca	p.P302S	CPT1A_ENST00000376618.2_Missense_Mutation_p.P302S|CPT1A_ENST00000538994.1_Missense_Mutation_p.P54S|CPT1A_ENST00000539743.1_Missense_Mutation_p.P302S|CPT1A_ENST00000540367.1_Missense_Mutation_p.P302S	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	302					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	GAGCAGAGTGGAATCGTGGAT	0.507000													7	5					0	0	0.004482	0	0
NEURL4	84461	broad.mit.edu	37	17	7230054	7230054	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:7230054G>A	ENST00000399464.2	-	4	1083	c.1068C>T	c.(1066-1068)ccC>ccT	p.P356P	NEURL4_ENST00000570460.1_Silent_p.P334P|NEURL4_ENST00000315614.7_Silent_p.P356P	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGTCCCGAAGGGGGCGATTGG	0.542000													15	27					0	0	0.007413	0	0
NFXL1	152518	broad.mit.edu	37	4	47857177	47857177	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:47857177G>A	ENST00000507489.1	-	20	2496	c.2320C>T	c.(2320-2322)Cct>Tct	p.P774S	NFXL1_ENST00000381538.3_Missense_Mutation_p.P774S	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	774						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						TGACCACAAGGAAGCTAAAAT	0.348000													14	42					0	0	0.004990	0	0
IGHV4-34	28395	broad.mit.edu	37	14	106829737	106829737	+	RNA	SNP	C	C	T	rs3814933		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:106829737C>T	ENST00000390616.2	-	0	256																											TGATTGATTTCCCCAATCCAC	0.557000													33	81					0	0	0.002836	0	0
CEP89	84902	broad.mit.edu	37	19	33392208	33392208	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:33392208A>G	ENST00000305768.4	-	15	1764	c.1676T>C	c.(1675-1677)tTg>tCg	p.L559S		NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	559						centrosome|spindle pole				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						TTGCTCTGTCAAACTGTTCTT	0.418000													36	72					0	0	0.005524	0	0
DCC	1630	broad.mit.edu	37	18	50985695	50985695	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:50985695G>A	ENST00000442544.2	+	24	4102	c.3486G>A	c.(3484-3486)atG>atA	p.M1162I	DCC_ENST00000581580.1_Missense_Mutation_p.M797I	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1162					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AAATGGAGATGAAAAATATTG	0.522000													33	83					0	0	0.003271	0	0
IGSF10	285313	broad.mit.edu	37	3	151166011	151166011	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:151166011G>A	ENST00000282466.3	-	4	1757	c.1758C>T	c.(1756-1758)ttC>ttT	p.F586F		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	586	Ig-like C2-type 2.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTTCACCAATGAAAACTGTGT	0.413000													22	62					0	0	0.001882	0	0
GRIA3	2892	broad.mit.edu	37	X	122459949	122459949	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:122459949G>A	ENST00000264357.5	+	4	873	c.581G>A	c.(580-582)gGa>gAa	p.G194E	GRIA3_ENST00000541091.1_Missense_Mutation_p.G178E|GRIA3_ENST00000371251.1_Missense_Mutation_p.G194E|GRIA3_ENST00000542149.1_Missense_Mutation_p.G194E|GRIA3_ENST00000371256.5_Missense_Mutation_p.G194E	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	194					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	AGGTCTGTGGGAAACATAAAG	0.443000													13	33					0	0	0.001855	0	0
PCNXL2	80003	broad.mit.edu	37	1	233394138	233394138	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:233394138C>T	ENST00000258229.8	-	5	1704	c.1470G>A	c.(1468-1470)tgG>tgA	p.W490*	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	490						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				ACACCGATTCCCAGGGTTCCC	0.547000													42	41					0	0	0.008740	0	0
SNX20	124460	broad.mit.edu	37	16	50707821	50707821	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:50707821G>A	ENST00000330943.4	-	4	618	c.447C>T	c.(445-447)ttC>ttT	p.F149F	SNX20_ENST00000423026.2_Intron|SNX20_ENST00000300590.3_Intron	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	149	PX.				cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						TCTCCTCAGCGAAGTTCCCAG	0.617000													19	22					0	0	0.008871	0	0
PYROXD2	84795	broad.mit.edu	37	10	100152729	100152729	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:100152729G>A	ENST00000370575.4	-	9	945	c.897C>T	c.(895-897)acC>acT	p.T299T	PYROXD2_ENST00000483923.1_5'UTR	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	299							oxidoreductase activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						CTCCATGTGTGGTGGCTGAGC	0.577000													29	46					0	0	0.009535	0	0
ABCA8	10351	broad.mit.edu	37	17	66871838	66871838	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:66871838C>T	ENST00000269080.2	-	34	4424	c.4287G>A	c.(4285-4287)agG>agA	p.R1429R	ABCA8_ENST00000586539.1_Silent_p.R1469R|ABCA8_ENST00000430352.2_Silent_p.R1469R	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1429	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GGAGGGCACCCCTTTCCGTGT	0.502000													14	32					0	0	0.004007	0	0
NR1I2	8856	broad.mit.edu	37	3	119528944	119528944	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:119528944C>T	ENST00000393716.2	+	3	2073	c.234C>T	c.(232-234)ccC>ccT	p.P78P	NR1I2_ENST00000466380.1_Silent_p.P78P|NR1I2_ENST00000337940.4_Silent_p.P117P	NM_003889.3	NP_003880.3	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	78					drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)	TGAGGTGCCCCTTCCGGAAGG	0.692000													17	39					0	0	0.006122	0	0
PHF20L1	51105	broad.mit.edu	37	8	133816055	133816055	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:133816055C>T	ENST00000395374.1	+	1	270	c.16C>T	c.(16-18)Cct>Tct	p.P6S	PHF20L1_ENST00000395379.1_Intron|PHF20L1_ENST00000337920.4_Intron|PHF20L1_ENST00000395390.2_Intron|PHF20L1_ENST00000315808.10_Intron|PHF20L1_ENST00000220847.7_Intron|PHF20L1_ENST00000395376.1_Intron|PHF20L1_ENST00000395382.3_Intron|PHF20L1_ENST00000395383.1_Intron|PHF20L1_ENST00000395386.2_Intron			A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	511							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)			TTGTGTTTTTCCTTTGGAGGA	0.353000													5	5					0	0	0.000602	0	0
TRPV3	162514	broad.mit.edu	37	17	3431398	3431398	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:3431398A>G	ENST00000301365.4	-	11	1555	c.1424T>C	c.(1423-1425)cTg>cCg	p.L475P	TRPV3_ENST00000576742.1_Missense_Mutation_p.L475P|TRPV3_ENST00000572519.1_Missense_Mutation_p.L475P			Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	475						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	CTTGTGCGTCAGGGCCAAGGG	0.592000													3	45					0	0	0.004672	0	0
BIRC6	57448	broad.mit.edu	37	2	32832604	32832604	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:32832604C>T	ENST00000421745.2	+	72	14287	c.14153C>T	c.(14152-14154)cCc>cTc	p.P4718L		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4718					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AGAGGCACTCCCAGTGGCACA	0.418000													43	83					0	0	0.009718	0	0
FILIP1	27145	broad.mit.edu	37	6	76124489	76124489	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:76124489C>T	ENST00000393004.2	-	2	421	c.200G>A	c.(199-201)cGa>cAa	p.R67Q	FILIP1_ENST00000237172.7_Missense_Mutation_p.R67Q			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	67										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CTTAGTTTTTCGTTCACATTC	0.408000													73	63					0	0	0.003610	0	0
MTUS2	23281	broad.mit.edu	37	13	30075288	30075288	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr13:30075288G>A	ENST00000431530.3	+	13	3941	c.3883G>A	c.(3883-3885)Gaa>Aaa	p.E1295K	MTUS2_ENST00000542829.1_Missense_Mutation_p.E174K|MTUS2_ENST00000400542.3_3'UTR|MTUS2_ENST00000380808.2_Missense_Mutation_p.E264K	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	1285						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						ACAGCAGAACGAAGACCTCAA	0.428000													19	42					0	0	0.010504	0	0
LAMA2	3908	broad.mit.edu	37	6	129498908	129498908	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:129498908G>A	ENST00000421865.2	+	10	1413	c.1364G>A	c.(1363-1365)cGg>cAg	p.R455Q		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	455	Laminin EGF-like 3.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AGCTGTGATCGGTGTGCCAGG	0.483000													12	29					0	0	0.001368	0	0
PCID2	55795	broad.mit.edu	37	13	113835476	113835476	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr13:113835476G>A	ENST00000375457.2	-	10	1344	c.748C>T	c.(748-750)Ctg>Ttg	p.L250L	PCID2_ENST00000375477.1_Silent_p.L252L|PCID2_ENST00000246505.5_Silent_p.L306L|PCID2_ENST00000493650.1_5'UTR|PCID2_ENST00000375479.2_Silent_p.L252L|PCID2_ENST00000337344.4_Silent_p.L252L|PCID2_ENST00000375459.1_Silent_p.L250L|PCID2_ENST00000351317.3_Silent_p.L229L	NM_001258213.1	NP_001245142.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	252					negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			AAATAGATCAGAATCATCCTT	0.413000													6	36					0	0	0.003080	0	0
HSPA1L	3305	broad.mit.edu	37	6	31778766	31778766	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:31778766C>T	ENST00000375654.4	-	2	1173	c.984G>A	c.(982-984)atG>atA	p.M328I	HSPA1L_ENST00000417199.3_Missense_Mutation_p.M328I	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	328					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TAGCCTTATCCATCTTGGCAT	0.502000													214	459					0	0	0.003610	0	0
SHROOM4	57477	broad.mit.edu	37	X	50351018	50351018	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:50351018C>A	ENST00000376020.2	-	6	3149	c.3124G>T	c.(3124-3126)Gag>Tag	p.E1042*	SHROOM4_ENST00000289292.7_Nonsense_Mutation_p.E1042*|SHROOM4_ENST00000460112.3_Nonsense_Mutation_p.E926*	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1042					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GAGCTCCCCTCCTCATAAACT	0.547000													11	33					0.000978159	0.000986872	0.000978	1	0
POTEM	641455	broad.mit.edu	37	14	20019973	20019973	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:20019973G>A	ENST00000551509.1	-	1	299	c.248C>T	c.(247-249)tCt>tTt	p.S83F		NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	83										endometrium(4)|kidney(1)|lung(4)	9						GTGGTCTCCAGAAGTGCCCAC	0.592000													28	190					0	0	0.003610	0	0
FAM172A	83989	broad.mit.edu	37	5	93294641	93294641	+	Silent	SNP	A	A	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:93294641A>G	ENST00000395965.3	-	6	550	c.408T>C	c.(406-408)ttT>ttC	p.F136F	FAM172A_ENST00000504768.2_5'UTR|FAM172A_ENST00000509163.1_Silent_p.F90F|FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000505869.1_Intron	NM_032042.5	NP_114431.2	Q8WUF8	F172A_HUMAN	family with sequence similarity 172, member A	136						endoplasmic reticulum|extracellular region				endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						TCATAAAGATAAAACTCTTTG	0.353000													13	26					0	0	0.002450	0	0
EEF1A2	1917	broad.mit.edu	37	20	62127295	62127295	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:62127295A>G	ENST00000217182.3	-	3	403	c.238T>C	c.(238-240)Ttc>Ctc	p.F80L	EEF1A2_ENST00000298049.7_Missense_Mutation_p.F80L	NM_001958.3	NP_001949.1	Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	80						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			GTGGTCTCGAACTTCCAGAGG	0.577000											OREG0026129	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	45	92					0	0	0.009718	0	0
DZANK1	55184	broad.mit.edu	37	20	18377153	18377153	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:18377153A>G	ENST00000357236.4	-	16	1891	c.1232T>C	c.(1231-1233)gTt>gCt	p.V411A	DZANK1_ENST00000377630.5_Missense_Mutation_p.V358A|DZANK1_ENST00000329494.5_Missense_Mutation_p.V527A|DZANK1_ENST00000262547.5_Missense_Mutation_p.V525A|DZANK1_ENST00000487128.1_5'UTR			Q9NVP4	CT012_HUMAN	double zinc ribbon and ankyrin repeat domains 1	352						intracellular	zinc ion binding			NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						TCTGATGCTAACTTCACAACC	0.378000													25	65					0	0	0.005443	0	0
OR51B6	390058	broad.mit.edu	37	11	5373625	5373625	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:5373625G>A	ENST00000380219.1	+	1	888	c.888G>A	c.(886-888)caG>caA	p.Q296Q	AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAACTAAGCAGATTCAGAGTG	0.418000													20	33					0	0	0.002299	0	0
CDCP1	64866	broad.mit.edu	37	3	45127448	45127448	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:45127448G>A	ENST00000296129.1	-	9	2327	c.2193C>T	c.(2191-2193)tcC>tcT	p.S731S		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	731						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		CATACACATGGGAGTCATTGT	0.527000													52	142					0	0	0.003610	0	0
COMMD6	170622	broad.mit.edu	37	13	76101961	76101961	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr13:76101961G>A	ENST00000355801.4	-	4	269	c.234C>T	c.(232-234)ctC>ctT	p.L78L	COMMD6_ENST00000377619.5_Intron|COMMD6_ENST00000460675.1_Intron|COMMD6_ENST00000406936.3_Intron|COMMD6_ENST00000377615.3_Intron	NM_203497.2	NP_987093.1	Q7Z4G1	COMD6_HUMAN	COMM domain containing 6	69	COMM.					cytoplasm|nucleus	protein binding			breast(1)|lung(1)|urinary_tract(1)	3		Breast(118;0.0979)|Prostate(6;0.122)		GBM - Glioblastoma multiforme(99;0.0104)		aagcagaaaggagactggagg	0.408000													5	20					0	0	0.001168	0	0
STAB2	55576	broad.mit.edu	37	12	104118760	104118760	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:104118760G>A	ENST00000388887.2	+	45	4895	c.4691G>A	c.(4690-4692)gGc>gAc	p.G1564D		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1564	EGF-like 14.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CAGAAAAATGGCGGCTGTAGT	0.463000													86	185					0	0	0.003610	0	0
EYA1	2138	broad.mit.edu	37	8	72267066	72267066	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:72267066G>A	ENST00000340726.3	-	3	714	c.75C>T	c.(73-75)ctC>ctT	p.L25L	EYA1_ENST00000388740.3_Intron|EYA1_ENST00000388741.2_Intron|EYA1_ENST00000419131.1_Silent_p.L25L|EYA1_ENST00000303824.7_Silent_p.L25L|EYA1_ENST00000388743.2_Silent_p.L25L|EYA1_ENST00000388742.4_Silent_p.L25L	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	25					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			GAGAGTTACCGAGTTTGGGGC	0.463000													35	78					0	0	0.004289	0	0
CUL1	8454	broad.mit.edu	37	7	148427274	148427274	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:148427274C>T	ENST00000325222.4	+	2	339	c.60C>T	c.(58-60)atC>atT	p.I20I	CUL1_ENST00000602748.1_Silent_p.I20I|CUL1_ENST00000409469.1_Silent_p.I20I	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	20					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TGGACCAGATCTGGGACGACC	0.567000													30	117					0	0	0.002096	0	0
ARHGAP6	395	broad.mit.edu	37	X	11174743	11174743	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:11174743G>A	ENST00000337414.4	-	10	2685	c.1813C>T	c.(1813-1815)Ccc>Tcc	p.P605S	ARHGAP6_ENST00000380732.3_Missense_Mutation_p.P637S|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.P414S|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.P430S|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.P402S|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.P605S|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.P402S	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	605					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						AGATCTGGGGGAACCTGAAGG	0.448000													8	27					0	0	0.003080	0	0
CLPTM1L	81037	broad.mit.edu	37	5	1339087	1339087	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:1339087G>A	ENST00000320895.5	-	4	744	c.487C>T	c.(487-489)Ctg>Ttg	p.L163L	CLPTM1L_ENST00000507807.1_Silent_p.L30L|CLPTM1L_ENST00000320927.6_Silent_p.L163L	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	163					apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		GGCTCATCCAGGGCACTCGTC	0.602000													13	31					0	0	0.001368	0	0
PASD1	139135	broad.mit.edu	37	X	150780153	150780153	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:150780153G>A	ENST00000370357.4	+	4	380	c.135G>A	c.(133-135)atG>atA	p.M45I		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	45	PAS.					nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					ATGGCTTTATGATTACACTGA	0.308000													23	64					0	0	0.003954	0	0
OR8J1	219477	broad.mit.edu	37	11	56128589	56128589	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:56128589G>A	ENST00000303039.3	+	1	899	c.867G>A	c.(865-867)ttG>ttA	p.L289L		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					TGAATCCCTTGATCTACAGCC	0.388000													15	34					0	0	0.003163	0	0
IDH3B	3420	broad.mit.edu	37	20	2644629	2644629	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:2644629G>A	ENST00000380843.4	-	2	89	c.59C>T	c.(58-60)cCt>cTt	p.P20L	IDH3B_ENST00000380851.5_Missense_Mutation_p.P20L|IDH3B_ENST00000488299.1_5'UTR	NM_006899.3	NP_008830.2	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3 (NAD+) beta	20					isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding			breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14					NADH(DB00157)	CCATGCCCCAGGGTTCCCGGC	0.617000													8	41					0	0	0.004482	0	0
SHH	6469	broad.mit.edu	37	7	155599042	155599042	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:155599042G>A	ENST00000297261.2	-	2	660	c.510C>T	c.(508-510)ttC>ttT	p.F170F		NM_000193.2	NP_000184.1	Q15465	SHH_HUMAN	sonic hedgehog	170			F -> C (in HPE3).		androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding			central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACACCCAGTCGAAGCCGGCCT	0.647000													18	82					0	0	0.006122	0	0
FAM133A	286499	broad.mit.edu	37	X	92965002	92965002	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:92965002C>T	ENST00000538690.1	+	5	1145	c.584C>T	c.(583-585)tCa>tTa	p.S195L	FAM133A_ENST00000355813.5_Missense_Mutation_p.S195L|FAM133A_ENST00000322139.4_Missense_Mutation_p.S195L|FAM133A_ENST00000332647.4_Missense_Mutation_p.S195L	NM_001171110.1	NP_001164581.1	Q8N9E0	F133A_HUMAN	family with sequence similarity 133, member A	195	Lys-rich.|Ser-rich.									breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						TCTGAGTCCTCATCTGAATCA	0.358000													4	11					0	0	0.009096	0	0
TSC22D2	9819	broad.mit.edu	37	3	150127378	150127378	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:150127378C>T	ENST00000361875.2	+	1	1257	c.241C>T	c.(241-243)Ccc>Tcc	p.P81S	TSC22D2_ENST00000361136.2_Missense_Mutation_p.P81S	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2	81							sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TGCGGAGACTCCCGGGACCGT	0.637000													9	31					0	0	0.006214	0	0
ZNF410	57862	broad.mit.edu	37	14	74388824	74388824	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:74388824C>T	ENST00000555044.1	+	10	1379	c.1185C>T	c.(1183-1185)aaC>aaT	p.N395N	ZNF410_ENST00000442160.3_Silent_p.N412N|RP5-1021I20.5_ENST00000554009.1_RNA|ZNF410_ENST00000324593.6_Intron|ZNF410_ENST00000540593.1_Silent_p.N322N|RP5-1021I20.5_ENST00000555916.1_RNA|ZNF410_ENST00000334521.4_Silent_p.N342N	NM_001242928.1|NM_021188.2	NP_001229857.1|NP_067011.1	Q86VK4	ZN410_HUMAN	zinc finger protein 410	395					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.00369)		CCAGTAAAAACCTGGTGTCTA	0.468000													16	40					0	0	0.003163	0	0
OR4K5	79317	broad.mit.edu	37	14	20388785	20388785	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:20388785C>T	ENST00000315915.4	+	1	45	c.20C>T	c.(19-21)tCa>tTa	p.S7L		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCCAATTCTTCAGTGGTGTCT	0.358000													15	42					0	0	0.002450	0	0
CLCN6	1185	broad.mit.edu	37	1	11897474	11897474	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:11897474C>T	ENST00000346436.6	+	20	2265	c.2213C>T	c.(2212-2214)cCt>cTt	p.P738L	CLCN6_ENST00000376487.3_Missense_Mutation_p.P716L|CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376496.3_Missense_Mutation_p.P738L	NM_001286.3	NP_001277.1	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	738					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CGGTTCCGCCCTCTGACCTTC	0.557000													29	38					0	0	0.007291	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24256963	24256963	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:24256963C>T	ENST00000538205.1	+	11	1297	c.750C>T	c.(748-750)tcC>tcT	p.S250S	RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000256412.4_Silent_p.S329S|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000522298.1_Silent_p.S250S	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	329	Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		CCTTGTGTTCCCCATCTTCGG	0.418000													16	54					0	0	0.001882	0	0
CYP2C9	1559	broad.mit.edu	37	10	96748604	96748604	+	Splice_Site	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:96748604G>A	ENST00000260682.6	+	9	1304	c.1291_splice	c.e9-1	p.G431_splice		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	431					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	CTATTTTCAGGAAAACGGATT	0.438000													29	74					0	0	0.009535	0	0
HECW1	23072	broad.mit.edu	37	7	43519254	43519254	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:43519254C>T	ENST00000395891.1	+	17	3750	c.3145C>T	c.(3145-3147)Ccc>Tcc	p.P1049S	HECW1_ENST00000453890.1_Missense_Mutation_p.P1015S	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1049	WW 2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TTTCATTGACCCCCGAATCCC	0.517000													26	79					0	0	0.003954	0	0
BCMO1	53630	broad.mit.edu	37	16	81303877	81303877	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:81303877C>T	ENST00000258168.2	+	7	1418	c.957C>T	c.(955-957)atC>atT	p.I319I	BCMO1_ENST00000425577.2_Silent_p.I250I	NM_017429.2	NP_059125.2	Q9HAY6	BCDO1_HUMAN	beta-carotene 15,15'-monooxygenase 1	319					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						ACGGCTGCATCGTGTTTGACG	0.552000													54	41					0	0	0.003610	0	0
INO80	54617	broad.mit.edu	37	15	41377662	41377662	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:41377662G>A	ENST00000361937.3	-	7	1202	c.778C>T	c.(778-780)Ccc>Tcc	p.P260S	INO80_ENST00000401393.3_Missense_Mutation_p.P260S			Q9ULG1	INO80_HUMAN	INO80 complex subunit	260	Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.|Assembles INO80 complex module with putative regulatory components INO80E, INO80F, UCHL5, NFRKB, MCRS1 and IN80D.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GTGCCAGGGGGAGGTGCATCG	0.463000													28	42					0	0	0.008361	0	0
MGAM	8972	broad.mit.edu	37	7	141765539	141765539	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:141765539T>A	ENST00000475668.2	+	40	4732	c.4678T>A	c.(4678-4680)Ttt>Att	p.F1560I	MGAM_ENST00000549489.2_Intron			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1560	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTGTGGGTTCTTTCAAGACGC	0.493000													13	15					0	0	0.001855	0	0
ADAM19	8728	broad.mit.edu	37	5	156915373	156915373	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:156915373T>C	ENST00000257527.4	-	21	2528	c.2450A>G	c.(2449-2451)aAc>aGc	p.N817S	ADAM19_ENST00000517905.1_Missense_Mutation_p.N817S|ADAM19_ENST00000430702.2_Missense_Mutation_p.N550S|ADAM19_ENST00000394020.1_Missense_Mutation_p.N819S	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	817					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCCTGGGGAGTTCCTAGCAGC	0.652000													36	66					0	0	0.004289	0	0
DENND4A	10260	broad.mit.edu	37	15	66048612	66048612	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:66048612G>A	ENST00000443035.3	-	3	392	c.177C>T	c.(175-177)gtC>gtT	p.V59V	DENND4A_ENST00000431932.2_Silent_p.V59V	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	59	MABP.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						AATCCTGTGGGACTTCCTCCC	0.368000													12	11					0	0	0.000978	0	0
PLEKHM1	9842	broad.mit.edu	37	17	43530788	43530788	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:43530788G>T	ENST00000430334.3	-	7	2563	c.2430C>A	c.(2428-2430)ttC>ttA	p.F810L	AC091132.1_ENST00000433601.1_RNA|PLEKHM1_ENST00000421073.2_Missense_Mutation_p.F721L	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	810					intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					ACTGCAGCAGGAAGCCATTCT	0.607000													10	21					2.80697e-09	2.85338e-09	0.000978	1	0
IGF2BP1	10642	broad.mit.edu	37	17	47123314	47123314	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:47123314G>A	ENST00000290341.3	+	13	1792	c.1458G>A	c.(1456-1458)gtG>gtA	p.V486V	IGF2BP1_ENST00000431824.2_Silent_p.V347V	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	486	Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).|Sufficient for nuclear export.				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						AGGAGGAAGTGAAGCTGGAGA	0.512000													10	30					0	0	0.006214	0	0
MROH2B	133558	broad.mit.edu	37	5	41061770	41061770	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:41061770G>A	ENST00000399564.4	-	6	967	c.517C>T	c.(517-519)Ccc>Tcc	p.P173S		NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		CTGGGGTAGGGAAAATCTCTC	0.448000													26	85					0	0	0.003954	0	0
SYNJ2	8871	broad.mit.edu	37	6	158517144	158517144	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:158517144C>T	ENST00000355585.4	+	27	4314	c.4239C>T	c.(4237-4239)gaC>gaT	p.D1413D	SYNJ2_ENST00000367112.1_Silent_p.D498D|SYNJ2_ENST00000367122.2_Silent_p.D1368D	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1413							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		ATTATCAGGACCCCTTCTGGA	0.517000													24	44					0	0	0.004656	0	0
SI	6476	broad.mit.edu	37	3	164786619	164786619	+	Splice_Site	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:164786619C>T	ENST00000264382.3	-	5	436	c.373_splice	c.e5-1	p.G125_splice		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	125	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GGCTTCAACTCCTTAAAGAAT	0.303000										HNSCC(35;0.089)			15	60					0	0	0.003163	0	0
LAD1	3898	broad.mit.edu	37	1	201356024	201356024	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:201356024G>A	ENST00000391967.2	-	3	766	c.465C>T	c.(463-465)gcC>gcT	p.A155A	LAD1_ENST00000367313.3_Silent_p.A169A	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	155			A -> P (in dbSNP:rs1128316).			basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						CCTCCTCCAGGGCCCAGGGGC	0.592000													33	168					0	0	0.006999	0	0
TRBV6-6	28601	broad.mit.edu	37	7	142162112	142162112	+	RNA	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:142162112G>A	ENST00000390371.3	-	0	206																											GGGTCTTGTCGATACCAGTAC	0.478000													41	171					0	0	0.002852	0	0
KIF4B	285643	broad.mit.edu	37	5	154395498	154395498	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:154395498C>T	ENST00000435029.4	+	1	2239	c.2079C>T	c.(2077-2079)ttC>ttT	p.F693F		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	693	Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AAAGAAACTTCCAGAAACAAT	0.433000													21	70					0	0	0.002780	0	0
LYG2	254773	broad.mit.edu	37	2	99861749	99861749	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:99861749C>T	ENST00000409679.1	-	4	501	c.357G>A	c.(355-357)agG>agA	p.R119R	LYG2_ENST00000333017.2_Silent_p.R119R|LYG2_ENST00000409238.1_Silent_p.R119R			Q86SG7	LYG2_HUMAN	lysozyme G-like 2	119					cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity			large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1)	12						ATTTAAGTCCCCTGTGGTCCC	0.517000													11	48					0	0	0.001368	0	0
MUSK	4593	broad.mit.edu	37	9	113459613	113459613	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:113459613C>T	ENST00000416899.2	+	5	621	c.495C>T	c.(493-495)tcC>tcT	p.S165S	MUSK_ENST00000189978.5_Silent_p.S165S|MUSK_ENST00000374440.3_Silent_p.S47S|MUSK_ENST00000374439.1_Silent_p.S47S|MUSK_ENST00000374448.4_Silent_p.S165S			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	165	Ig-like 2.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						AGGAAAATTCCCGAATTGCAG	0.403000													48	154					0	0	0.003610	0	0
DYSF	8291	broad.mit.edu	37	2	71825771	71825771	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:71825771G>A	ENST00000258104.3	+	33	3875	c.3598G>A	c.(3598-3600)Gac>Aac	p.D1200N	DYSF_ENST00000429174.2_Missense_Mutation_p.D1200N|DYSF_ENST00000413539.2_Missense_Mutation_p.D1231N|DYSF_ENST00000409651.1_Missense_Mutation_p.D1232N|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409366.1_Missense_Mutation_p.D1201N|DYSF_ENST00000410020.3_Missense_Mutation_p.D1218N|DYSF_ENST00000409762.1_Missense_Mutation_p.D1217N|DYSF_ENST00000409582.3_Missense_Mutation_p.D1217N|DYSF_ENST00000394120.2_Missense_Mutation_p.D1201N|DYSF_ENST00000409744.1_Missense_Mutation_p.D1187N|DYSF_ENST00000410041.1_Missense_Mutation_p.D1218N	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1200	C2 4.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CCCCACCTGGGACCAGACGCT	0.592000													22	38					0	0	0.002780	0	0
TM9SF2	9375	broad.mit.edu	37	13	100190111	100190111	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr13:100190111C>T	ENST00000376387.4	+	6	900	c.710C>T	c.(709-711)cCg>cTg	p.P237L	TM9SF2_ENST00000463709.1_3'UTR	NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	237					transport	endosome membrane|integral to plasma membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					AAACTTGAACCGAAAAGGTAA	0.318000													4	17					0	0	0.001984	0	0
SEPT8	23176	broad.mit.edu	37	5	132087726	132087726	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:132087726C>T	ENST00000378719.2	-	10	1671	c.1434G>A	c.(1432-1434)tgG>tgA	p.W478*	SEPT8_ENST00000481030.1_5'UTR|CCNI2_ENST00000378731.1_Silent_p.L281L	NM_001098811.1	NP_001092281.1	Q92599	SEPT8_HUMAN	septin 8	478					cell cycle	septin complex	GTP binding|protein binding		SEPT8/AFF4(2)	kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATCCTTCCCTCCACGTCGCAT	0.572000													5	15					0	0	0.001984	0	0
ANO2	57101	broad.mit.edu	37	12	6030408	6030408	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:6030408C>T	ENST00000356134.5	-	3	391	c.320G>A	c.(319-321)gGg>gAg	p.G107E	ANO2_ENST00000327087.8_Missense_Mutation_p.G107E|ANO2_ENST00000546188.1_Missense_Mutation_p.G107E	NM_001278596.1|NM_001278597.1	NP_001265525.1|NP_001265526.1	Q9NQ90	ANO2_HUMAN	anoctamin 2	111						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CAGGTGCACCCCGCGTTTCCG	0.597000													9	26					0	0	0.004482	0	0
PQLC2	54896	broad.mit.edu	37	1	19653762	19653762	+	Silent	SNP	C	C	T	rs139194294	byFrequency	TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:19653762C>T	ENST00000375153.3	+	7	1300	c.660C>T	c.(658-660)ttC>ttT	p.F220F	PQLC2_ENST00000400548.2_Silent_p.F155F|PQLC2_ENST00000375155.3_Silent_p.F220F	NM_001040125.1	NP_001035214.1	Q6ZP29	PQLC2_HUMAN	PQ loop repeat containing 2	220	PQ-loop 2.					integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ACTCTCTGTTCGCGCTGGTGA	0.617000													18	32					0	0	0.006122	0	0
SCN3A	6328	broad.mit.edu	37	2	165952981	165952981	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:165952981C>T	ENST00000360093.3	-	24	4780	c.4289G>A	c.(4288-4290)cGa>cAa	p.R1430Q	SCN3A_ENST00000283254.7_Missense_Mutation_p.R1430Q|SCN3A_ENST00000409101.3_Missense_Mutation_p.R1381Q	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1430						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	ACTTACATCTCGTGAATCAAC	0.289000													6	21					0	0	0.001984	0	0
GLRA2	2742	broad.mit.edu	37	X	14708900	14708900	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:14708900G>A	ENST00000218075.4	+	8	1529	c.999G>A	c.(997-999)ctG>ctA	p.L333L	GLRA2_ENST00000443437.2_Silent_p.L244L|GLRA2_ENST00000355020.4_Silent_p.L333L	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	333					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	CTGCCTTACTGGAATACGCAG	0.502000													30	57					0	0	0.007291	0	0
DNAH2	146754	broad.mit.edu	37	17	7726784	7726784	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:7726784G>A	ENST00000572933.1	+	74	12627	c.11167G>A	c.(11167-11169)Gac>Aac	p.D3723N	DNAH2_ENST00000389173.2_Missense_Mutation_p.D3723N			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3723					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)				GGGCCAAATGGACAATCCATG	0.478000													33	88					0	0	0.004289	0	0
PNPLA7	375775	broad.mit.edu	37	9	140395161	140395161	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:140395161G>A	ENST00000406427.1	-	16	2075	c.1739C>T	c.(1738-1740)tCc>tTc	p.S580F	PNPLA7_ENST00000371457.1_Missense_Mutation_p.S161F|PNPLA7_ENST00000277531.4_Missense_Mutation_p.S555F	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	555					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GTGGGCCTTGGAGATGGACAG	0.697000													13	31					0	0	0.001855	0	0
BAI2	576	broad.mit.edu	37	1	32207058	32207058	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:32207058G>A	ENST00000373658.3	-	11	2051	c.1710C>T	c.(1708-1710)ctC>ctT	p.L570L	BAI2_ENST00000398556.3_Silent_p.L518L|BAI2_ENST00000398542.1_Silent_p.L503L|BAI2_ENST00000398547.1_Silent_p.L503L|BAI2_ENST00000257070.4_Silent_p.L570L|BAI2_ENST00000398538.1_Silent_p.L558L|BAI2_ENST00000440175.2_Silent_p.L212L|BAI2_ENST00000373655.2_Silent_p.L570L|BAI2_ENST00000527361.1_Silent_p.L570L	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	570					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GGGCACTGAGGAGACAGCGGC	0.632000													4	9					0	0	0.009096	0	0
MGAM	8972	broad.mit.edu	37	7	141708362	141708362	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:141708362C>T	ENST00000475668.2	+	3	238	c.184C>T	c.(184-186)Cct>Tct	p.P62S	MGAM_ENST00000549489.2_Missense_Mutation_p.P62S			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	62	Ser/Thr-rich.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TACCCCAGATCCTGGAACAAC	0.478000													10	31					0	0	0.006214	0	0
UGT1A3	54659	broad.mit.edu	37	2	234637841	234637841	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:234637841G>A	ENST00000482026.1	+	1	88	c.69G>A	c.(67-69)caG>caA	p.Q23Q	UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A5_ENST00000373414.3_Intron	NM_019093.2	NP_061966.1														breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TCAGTGTCCAGCCCTGGGCTG	0.627000													19	29					0	0	0.008871	0	0
CHSY1	22856	broad.mit.edu	37	15	101718386	101718386	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:101718386G>A	ENST00000254190.3	-	3	2091	c.1616C>T	c.(1615-1617)cCt>cTt	p.P539L	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	539					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCCAGACAAAGGAATCAGTAT	0.443000													25	60					0	0	0.002780	0	0
PRR11	55771	broad.mit.edu	37	17	57274953	57274953	+	Silent	SNP	C	C	T	rs140410241	byFrequency	TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:57274953C>T	ENST00000262293.4	+	8	1218	c.906C>T	c.(904-906)gtC>gtT	p.V302V	CTD-2510F5.6_ENST00000577660.1_Silent_p.V9V	NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	302										breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TTAGAAAAGTCGATGTAGAGA	0.378000													10	48					0	0	0.006214	0	0
TSPEAR	54084	broad.mit.edu	37	21	45949687	45949687	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr21:45949687G>A	ENST00000323084.4	-	5	849	c.784C>T	c.(784-786)Ccc>Tcc	p.P262S	TSPEAR_ENST00000397916.1_Missense_Mutation_p.P194S	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	262					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						TAACCATAGGGATATTTTAGC	0.642000													16	70					0	0	0.004007	0	0
POTEF	728378	broad.mit.edu	37	2	130832987	130832987	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:130832987C>T	ENST00000357462.5	-	15	2151	c.2058G>A	c.(2056-2058)agG>agA	p.R686R	POTEF_ENST00000361163.4_3'UTR|POTEF_ENST00000360967.5_3'UTR|POTEF_ENST00000409914.2_Silent_p.R686R			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	686						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GATTATCATTCCTTTTTTTCA	0.413000													18	43					0	0	0.004990	0	0
ROCK2	9475	broad.mit.edu	37	2	11364448	11364448	+	Splice_Site	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:11364448C>T	ENST00000315872.6	-	7	1455	c.1007_splice	c.e7+1	p.R336_splice	ROCK2_ENST00000401753.1_Splice_Site_p.R93_splice	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	336	Protein kinase.				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)		TGTACATTACCTATCTGTTAA	0.318000													15	36					0	0	0.004990	0	0
SLC4A2	6522	broad.mit.edu	37	7	150771818	150771818	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:150771818C>T	ENST00000485713.1	+	19	3977	c.2937C>T	c.(2935-2937)gtC>gtT	p.V979V	SLC4A2_ENST00000392826.2_Silent_p.V970V|SLC4A2_ENST00000310317.5_Silent_p.V897V|SLC4A2_ENST00000461735.1_Silent_p.V965V|SLC4A2_ENST00000413384.2_Silent_p.V979V	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	979	Membrane (anion exchange).				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGGGCTGGGTCATCAACCCCC	0.567000													37	117					0	0	0.004289	0	0
HBD	3045	broad.mit.edu	37	11	5253963	5253963	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:5253963C>T	ENST00000292901.3	-	3	430	c.381G>A	c.(379-381)atG>atA	p.M127I				P02042	HBD_HUMAN	hemoglobin, delta	0					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTCTTTTCCCATGTACTCTT	0.368000													7	6					0	0	0.001984	0	0
OR4A15	81328	broad.mit.edu	37	11	55135906	55135906	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:55135906C>T	ENST00000314706.3	+	1	547	c.547C>T	c.(547-549)Cac>Tac	p.H183Y		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						AGGCTTTCTTCACTCATTGGT	0.428000													25	64					0	0	0.005443	0	0
PDE8B	8622	broad.mit.edu	37	5	76708041	76708041	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:76708041G>A	ENST00000264917.5	+	16	1738	c.1693G>A	c.(1693-1695)Gaa>Aaa	p.E565K	PDE8B_ENST00000342343.4_Missense_Mutation_p.E545K|PDE8B_ENST00000346042.3_Missense_Mutation_p.E468K|PDE8B_ENST00000505283.1_Missense_Mutation_p.E30K|PDE8B_ENST00000333194.4_Missense_Mutation_p.E510K|PDE8B_ENST00000340978.3_Missense_Mutation_p.E518K	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	565					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		CTTTGAATTGGAAGCCATTAC	0.433000													125	239					0	0	0.003610	0	0
MYO5B	4645	broad.mit.edu	37	18	47563319	47563319	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:47563319T>C	ENST00000285039.7	-	4	655	c.356A>G	c.(355-357)tAt>tGt	p.Y119C		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	119	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		ATCTTGTCCATAGATTGGCAA	0.473000													16	27					0	0	0.003163	0	0
SLC25A31	83447	broad.mit.edu	37	4	128651756	128651756	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:128651756C>T	ENST00000281154.4	+	1	224	c.56C>T	c.(55-57)tCc>tTc	p.S19F		NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31	19					transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity			NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						GACGCCTCATCCTTCGGGAAG	0.582000													21	59					0	0	0.003330	0	0
GHR	2690	broad.mit.edu	37	5	42718672	42718672	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:42718672G>A	ENST00000230882.4	+	10	1253	c.1063G>A	c.(1063-1065)Gaa>Aaa	p.E355K	GHR_ENST00000357703.3_Missense_Mutation_p.E333K|GHR_ENST00000513625.1_3'UTR|GHR_ENST00000537449.1_Missense_Mutation_p.E168K	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	355					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TGAGCCAGATGAAAAGACTGA	0.433000													34	67					0	0	0.002445	0	0
GLYATL1	92292	broad.mit.edu	37	11	58722338	58722338	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:58722338C>T	ENST00000300079.5	+	5	425	c.375C>T	c.(373-375)atC>atT	p.I125I	RP11-142C4.6_ENST00000533954.1_RNA|GLYATL1_ENST00000317391.4_Silent_p.I94I	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	94						mitochondrion	glycine N-acyltransferase activity	p.I125I(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	ATTGTGAGATCGTAAACTGGA	0.393000													9	8					0	0	0.004482	0	0
SERTAD2	9792	broad.mit.edu	37	2	64863943	64863943	+	Silent	SNP	G	G	A	rs78389198	byFrequency	TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:64863943G>A	ENST00000313349.3	-	2	360	c.63C>T	c.(61-63)atC>atT	p.I21I	SERTAD2_ENST00000476805.1_5'UTR	NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN	SERTA domain containing 2	21					negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						AGGGAGACACGATTTTGCCTT	0.468000													32	67					0	0	0.003271	0	0
SLC5A5	6528	broad.mit.edu	37	19	17992853	17992853	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:17992853G>A	ENST00000222248.3	+	9	1490	c.1143G>A	c.(1141-1143)agG>agA	p.R381R		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	381					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TGGCACCCAGGAAACTCGTGA	0.582000													17	45					0	0	0.006122	0	0
COL4A6	1288	broad.mit.edu	37	X	107464577	107464577	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:107464577C>T	ENST00000334504.7	-	4	405	c.172G>A	c.(172-174)Ggc>Agc	p.G58S	COL4A6_ENST00000372216.4_Missense_Mutation_p.G59S|COL4A6_ENST00000394872.2_Missense_Mutation_p.G58S|COL4A6_ENST00000545689.1_Missense_Mutation_p.G58S|COL4A6_ENST00000538570.1_Missense_Mutation_p.G58S	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	59	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CCTGTTGGGCCTTGAATTCCA	0.478000									Alport syndrome with Diffuse Leiomyomatosis				24	79					0	0	0.002780	0	0
GRM4	2914	broad.mit.edu	37	6	34026879	34026879	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:34026879G>A	ENST00000374181.3	-	4	1068	c.899C>T	c.(898-900)gCc>gTc	p.A300V	GRM4_ENST00000544773.1_Missense_Mutation_p.A131V|GRM4_ENST00000535756.1_Missense_Mutation_p.A167V|GRM4_ENST00000538487.1_Missense_Mutation_p.A300V|GRM4_ENST00000374177.3_Missense_Mutation_p.A231V|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000455714.2_Missense_Mutation_p.A160V	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	300					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)	TGTCTGGTTGGCCCTTCGTGC	0.622000													18	37					0	0	0.010504	0	0
MBD5	55777	broad.mit.edu	37	2	149227601	149227601	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:149227601C>T	ENST00000407073.1	+	9	3086	c.2089C>T	c.(2089-2091)Ccc>Tcc	p.P697S	MBD5_ENST00000404807.1_Missense_Mutation_p.P697S	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	697						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GGGTTCATTTCCCATCAGTTC	0.458000													23	48					0	0	0.002780	0	0
SF3A3	10946	broad.mit.edu	37	1	38453276	38453276	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:38453276A>G	ENST00000373019.4	-	4	1227	c.272T>C	c.(271-273)aTa>aCa	p.I91T	SF3A3_ENST00000489537.1_5'UTR|SF3A3_ENST00000448721.2_Intron	NM_006802.2	NP_006793.1	Q12874	SF3A3_HUMAN	splicing factor 3a, subunit 3, 60kDa	91					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nuclear speck	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GAATTCCTTTATTTGCTTGAG	0.378000													29	75					0	0	0.008361	0	0
ZNF775	285971	broad.mit.edu	37	7	150093942	150093942	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:150093942C>T	ENST00000329630.5	+	3	480	c.373C>T	c.(373-375)Cac>Tac	p.H125Y		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	125					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTGAAGATCCACCAGCGCAC	0.662000													11	17					0	0	0.000978	0	0
KEL	3792	broad.mit.edu	37	7	142655516	142655516	+	Splice_Site	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:142655516C>T	ENST00000355265.2	-	5	875		c.e5-1		KEL_ENST00000479768.2_Splice_Site	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase						proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TTCTGGACCTCTAGAAAGGAA	0.488000													12	70					0	0	0.000978	0	0
SCN2A	6326	broad.mit.edu	37	2	166198926	166198926	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:166198926G>A	ENST00000375437.2	+	15	2799	c.2509G>A	c.(2509-2511)Gaa>Aaa	p.E837K	SCN2A_ENST00000283256.6_Missense_Mutation_p.E837K|SCN2A_ENST00000375427.2_Missense_Mutation_p.E837K|SCN2A_ENST00000357398.3_Missense_Mutation_p.E837K	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	837					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)	TAGTTTAATGGAACTTGGTTT	0.348000													29	71					0	0	0.008361	0	0
WDR16	146845	broad.mit.edu	37	17	9538849	9538849	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:9538849G>A	ENST00000352665.5	+	11	1517	c.1448G>A	c.(1447-1449)gGg>gAg	p.G483E	WDR16_ENST00000396219.3_Missense_Mutation_p.G415E|WDR16_ENST00000576714.1_3'UTR|WDR16_ENST00000299764.5_Missense_Mutation_p.G493E	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	483						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						AGCACCGATGGGACTTGTATC	0.502000													14	45					0	0	0.001855	0	0
CFAP54	144535	broad.mit.edu	37	12	97147538	97147538	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:97147538C>G	ENST00000524981.3	+	23	3055	c.3055C>G	c.(3055-3057)Caa>Gaa	p.Q1019E				Q6ZTY8	CL063_HUMAN		993										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						AGTGGCCAAGCAAGTATATTA	0.428000													12	56					0	0	0.001855	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48869597	48869597	+	Splice_Site	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:48869597G>A	ENST00000394754.1	+	6	2529		c.e6+1		GTF2A1L_ENST00000468326.1_Splice_Site|STON1-GTF2A1L_ENST00000394751.3_Intron|STON1-GTF2A1L_ENST00000405008.1_Splice_Site|STON1-GTF2A1L_ENST00000309827.2_Splice_Site|STON1-GTF2A1L_ENST00000402114.2_Splice_Site|GTF2A1L_ENST00000430487.2_Splice_Site|GTF2A1L_ENST00000403751.3_Splice_Site|LHCGR_ENST00000420913.3_Intron	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN							endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGCAGAACTGGTATGTAGCTT	0.348000													5	9					0	0	0.000602	0	0
NLRP11	204801	broad.mit.edu	37	19	56321651	56321651	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:56321651C>T	ENST00000443188.1	-	5	1035	c.325G>A	c.(325-327)Gaa>Aaa	p.E109K	NLRP11_ENST00000592953.1_Missense_Mutation_p.E10K|NLRP11_ENST00000589824.2_Missense_Mutation_p.E109K|NLRP11_ENST00000589093.1_Missense_Mutation_p.E109K|NLRP11_ENST00000360133.3_Missense_Mutation_p.E109K	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	109							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		GTGTGACTTTCCCATTGCAGC	0.378000													7	20					0	0	0.001984	0	0
SLC4A8	9498	broad.mit.edu	37	12	51857462	51857462	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:51857462G>A	ENST00000453097.2	+	11	1530	c.1313G>A	c.(1312-1314)gGg>gAg	p.G438E	SLC4A8_ENST00000535225.2_Missense_Mutation_p.G385E|SLC4A8_ENST00000514353.3_Missense_Mutation_p.G385E|SLC4A8_ENST00000394856.1_Missense_Mutation_p.G385E|SLC4A8_ENST00000358657.3_Missense_Mutation_p.G465E	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	438					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		GAACCACATGGGGGTCACAGT	0.463000													25	98					0	0	0.005443	0	0
KCNH5	27133	broad.mit.edu	37	14	63473177	63473177	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:63473177C>T	ENST00000322893.7	-	3	479	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K	KCNH5_ENST00000420622.2_Missense_Mutation_p.E71K|KCNH5_ENST00000394968.1_Missense_Mutation_p.E13K|KCNH5_ENST00000394964.2_Missense_Mutation_p.E13K	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	71	PAS.				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TCAGTCAATTCCCCATACATA	0.348000													7	32					0	0	0.001984	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857462	9857462	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:9857462G>A	ENST00000396573.2	-	14	4248	c.3939C>T	c.(3937-3939)ctC>ctT	p.L1313L	GRIN2A_ENST00000330684.3_Silent_p.L1313L|GRIN2A_ENST00000562109.1_Intron|GRIN2A_ENST00000396575.2_Silent_p.L1313L|GRIN2A_ENST00000404927.2_Intron|GRIN2A_ENST00000535259.1_Intron	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1313					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCCTGTCCTTGAGGCTTATGC	0.502000													34	75					0	0	0.003271	0	0
LPIN3	64900	broad.mit.edu	37	20	39980535	39980535	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:39980535A>T	ENST00000373257.3	+	8	1268	c.1177A>T	c.(1177-1179)Aat>Tat	p.N393Y		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	393					fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				GGACTCTGAGAATGCAGCGCT	0.582000													19	48					0	0	0.007413	0	0
TUBB6	84617	broad.mit.edu	37	18	12324998	12324998	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:12324998C>T	ENST00000592683.1	+	4	356	c.310C>T	c.(310-312)Cgg>Tgg	p.R104W	TUBB6_ENST00000590967.1_Intron|TUBB6_ENST00000586653.1_3'UTR|TUBB6_ENST00000317702.5_Intron|TUBB6_ENST00000591909.1_Intron|TUBB6_ENST00000591208.1_Intron			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	0					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		CCCTCCTTGTCGGTGACCAAG	0.582000													19	41					0	0	0.006122	0	0
TTN	7273	broad.mit.edu	37	2	179572409	179572409	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:179572409C>T	ENST00000589042.1	-	100	29109	c.28885G>A	c.(28885-28887)Gaa>Aaa	p.E9629K	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E9312K|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E8385K|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9312							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E8385K(1)|p.E8385Q(1)		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)			GGCTTTATTTCCCTGCCAGCC	0.498000													17	30					0	0	0.004007	0	0
PRB3	5544	broad.mit.edu	37	12	11420803	11420803	+	RNA	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:11420803C>T	ENST00000381842.3	-	0	417				PRB3_ENST00000538488.1_RNA|PRB3_ENST00000440870.3_RNA|PRB3_ENST00000279573.6_RNA	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3							extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			CTGGTTTCCTCCTTGTGGGGG	0.647000													48	103					0	0	0.003610	0	0
PPFIA4	8497	broad.mit.edu	37	1	203015021	203015021	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:203015021G>A	ENST00000367240.2	+	8	1438	c.911G>A	c.(910-912)cGc>cAc	p.R304H	PPFIA4_ENST00000447715.2_Missense_Mutation_p.R304H|PPFIA4_ENST00000414050.2_Missense_Mutation_p.R11H|PPFIA4_ENST00000295706.4_5'UTR			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	232					cell communication	cell surface|cytoplasm	protein binding	p.R451P(1)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						CTGGAGAAGCGCTACCTGGCT	0.572000													12	223					0	0	0.001368	0	0
NPNT	255743	broad.mit.edu	37	4	106861357	106861357	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:106861357C>T	ENST00000379987.2	+	6	847	c.631C>T	c.(631-633)Caa>Taa	p.Q211*	NPNT_ENST00000305572.8_Nonsense_Mutation_p.Q211*|NPNT_ENST00000453617.2_Nonsense_Mutation_p.Q228*|NPNT_ENST00000506666.1_Nonsense_Mutation_p.Q241*|NPNT_ENST00000427316.2_Nonsense_Mutation_p.Q241*|NPNT_ENST00000514622.1_Nonsense_Mutation_p.Q211*	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	211	EGF-like 4; calcium-binding (Potential).				cell differentiation	membrane	calcium ion binding			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		AGGCAAATATCAATGTCATGG	0.443000													19	57					0	0	0.008871	0	0
SYNE1	23345	broad.mit.edu	37	6	152831444	152831444	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:152831444C>T	ENST00000367255.5	-	8	1066	c.465G>A	c.(463-465)gtG>gtA	p.V155V	SYNE1_ENST00000341594.5_Silent_p.V155V|SYNE1_ENST00000367248.3_Silent_p.V162V|SYNE1_ENST00000423061.1_Silent_p.V162V|SYNE1_ENST00000367253.4_Silent_p.V155V|SYNE1_ENST00000448038.1_Silent_p.V162V|SYNE1_ENST00000413186.2_Silent_p.V155V|SYNE1_ENST00000265368.4_Silent_p.V155V|SYNE1_ENST00000466159.2_Silent_p.V155V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	155	Actin-binding.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTATGCTGTCCACGGAGGATG	0.478000										HNSCC(10;0.0054)			21	34					0	0	0.008871	0	0
DOK2	9046	broad.mit.edu	37	8	21767052	21767052	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:21767052G>A	ENST00000276420.4	-	5	1267	c.1009C>T	c.(1009-1011)Ctg>Ttg	p.L337L	DOK2_ENST00000544659.1_Silent_p.L183L	NM_003974.2	NP_003965.2	O60496	DOK2_HUMAN	docking protein 2, 56kDa	337	Pro-rich.				blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		CGAGGGGGCAGGGTCTCCTCA	0.642000													24	54					0	0	0.006320	0	0
MIR516B2	574485	broad.mit.edu	37	19	54228773	54228773	+	RNA	SNP	C	C	T	rs141891128	by1000genomes	TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:54228773C>T	ENST00000385190.1	+	0	78					NR_030207.1																						GAGGGTTACTCTTTGAGAAAA	0.403000													9	17					0	0	0.006214	0	0
OR10A3	26496	broad.mit.edu	37	11	7960409	7960409	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:7960409C>T	ENST00000360759.3	-	1	732	c.659G>A	c.(658-660)cGa>cAa	p.R220Q		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AAACAGAACTCGAATGTAAGA	0.448000													10	10					0	0	0.006214	0	0
NPL	80896	broad.mit.edu	37	1	182787806	182787806	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:182787806C>T	ENST00000367554.3	+	7	849	c.531C>T	c.(529-531)ttC>ttT	p.F177F	NPL_ENST00000258317.2_Silent_p.F196F|NPL_ENST00000367552.2_Silent_p.F196F|NPL_ENST00000463899.1_3'UTR|NPL_ENST00000367555.1_Silent_p.F196F|NPL_ENST00000367553.1_Silent_p.F196F	NM_001200050.1	NP_001186979.1	Q9BXD5	NPL_HUMAN	N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase)	196					carbohydrate metabolic process	cytoplasm	N-acetylneuraminate lyase activity			breast(1)|central_nervous_system(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(1)|stomach(1)	15						AGTTTGCTTTCCTTTTTGGGG	0.453000													16	27					0	0	0.006122	0	0
MRVI1	10335	broad.mit.edu	37	11	10597933	10597933	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:10597933C>T	ENST00000547195.1	-	20	2912	c.2412G>A	c.(2410-2412)caG>caA	p.Q804Q	MRVI1_ENST00000527509.2_Silent_p.Q804Q|MRVI1_ENST00000424001.1_Silent_p.Q580Q|MRVI1_ENST00000421747.1_Silent_p.Q886Q|MRVI1_ENST00000541483.1_Silent_p.Q689Q|MRVI1-AS1_ENST00000529829.1_RNA|MRVI1_ENST00000436272.1_Silent_p.Q868Q|MRVI1_ENST00000552103.1_Silent_p.Q804Q|MRVI1_ENST00000558540.1_Silent_p.Q580Q|MRVI1_ENST00000534266.2_Silent_p.Q580Q|MRVI1-AS1_ENST00000529979.1_RNA|MRVI1_ENST00000531107.1_Silent_p.Q887Q|MRVI1_ENST00000423302.2_Silent_p.Q895Q|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000545852.1_Silent_p.Q580Q	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	868	Glu-rich.				platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		AGGAGTCCCTCTGGGCTGCCG	0.562000													16	21					0	0	0.004990	0	0
DPP6	1804	broad.mit.edu	37	7	154002608	154002608	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:154002608C>T	ENST00000332007.3	+	1	414	c.29C>T	c.(28-30)tCg>tTg	p.S10L	DPP6_ENST00000377770.3_Intron|DPP6_ENST00000404039.1_Intron|DPP6_ENST00000427557.1_Missense_Mutation_p.S10L|DPP6_ENST00000496611.1_3'UTR|DPP6_ENST00000406326.1_Intron			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	0					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)			CCAAGCGCTTCGGGGAAATCC	0.607000													3	9					0	0	0.004672	0	0
BCR	613	broad.mit.edu	37	22	23651651	23651651	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr22:23651651C>T	ENST00000305877.8	+	17	3804	c.3053C>T	c.(3052-3054)aCc>aTc	p.T1018I	BCR_ENST00000359540.3_Missense_Mutation_p.T974I	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	1018					regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						TGGCAGCGCACCGTCATCGCC	0.607000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""								5	15					0	0	0.001168	0	0
CCBE1	147372	broad.mit.edu	37	18	57136752	57136752	+	Missense_Mutation	SNP	C	C	T	rs115982879	by1000genomes	TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:57136752C>T	ENST00000439986.4	-	4	390	c.353G>A	c.(352-354)cGa>cAa	p.R118Q	CCBE1_ENST00000398179.2_5'UTR	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	118					lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				CCGGTCATATCGGTATCCCGG	0.512000													54	99					0	0	0.003610	0	0
SNHG14	104472715	broad.mit.edu	37	15	25457038	25457038	+	RNA	SNP	A	A	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:25457038A>T	ENST00000424208.1	+	0	2516				SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA	NR_003305.1																						CTAGGTGAGAAATTTGGAGGA	0.512000													56	130					0	0	0.003610	0	0
ZNF676	163223	broad.mit.edu	37	19	22363780	22363780	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:22363780G>A	ENST00000397121.2	-	3	1056	c.739C>T	c.(739-741)Cat>Tat	p.H247Y		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	247					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TCTCCAGTATGAATTATCTTA	0.368000													17	75					0	0	0.007413	0	0
PKD1	5310	broad.mit.edu	37	16	2169146	2169146	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:2169146T>A	ENST00000262304.4	-	3	536	c.328A>T	c.(328-330)Ata>Tta	p.I110L	PKD1_ENST00000423118.1_Missense_Mutation_p.I110L	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	110					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TTAGCAAATATTCCTTCTTCT	0.478000													4	9					0	0	0.009096	0	0
SLC17A9	63910	broad.mit.edu	37	20	61595008	61595008	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:61595008C>T	ENST00000370349.3	+	8	984	c.780C>T	c.(778-780)ttC>ttT	p.F260F	SLC17A9_ENST00000488738.1_3'UTR|SLC17A9_ENST00000370351.4_Silent_p.F266F			Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	266					exocytosis|transmembrane transport	integral to membrane	transporter activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						CCACCTTCTTCGAGGAGACCT	0.662000													4	8					0	0	0.009096	0	0
ZNF791	163049	broad.mit.edu	37	19	12738595	12738595	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:12738595C>T	ENST00000446165.1	+	3	353	c.191C>T	c.(190-192)tCa>tTa	p.S64L	ZNF791_ENST00000343325.4_Silent_p.F84F|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000540038.1_5'UTR|ZNF791_ENST00000458122.3_Silent_p.F52F			Q3KP31	ZN791_HUMAN	zinc finger protein 791	0	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						CAGAAAACTTCAGTCCCAATC	0.428000													54	95					0	0	0.003610	0	0
HECW1	23072	broad.mit.edu	37	7	43484424	43484424	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:43484424G>A	ENST00000395891.1	+	11	2258	c.1653G>A	c.(1651-1653)ggG>ggA	p.G551G	HECW1_ENST00000453890.1_Silent_p.G551G	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	551					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CAGCCTGCGGGGACCCCGAGA	0.692000													22	51					0	0	0.002299	0	0
ZNF812	729648	broad.mit.edu	37	19	9800950	9800950	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:9800950G>A	ENST00000457674.2	-	5	1747	c.1229C>T	c.(1228-1230)aCt>aTt	p.T410I	ZNF812_ENST00000536819.1_5'UTR	NM_001199814.1	NP_001186743.1	P0C7V5	ZN812_HUMAN	zinc finger protein 812	410					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TCTGGTATGAGTTTGCAGGTG	0.403000													14	37					0	0	0.003163	0	0
ADH6	130	broad.mit.edu	37	4	100134872	100134872	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:100134872C>T	ENST00000394897.1	-	3	235	c.153G>A	c.(151-153)atG>atA	p.M51I	RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000407820.2_Intron|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000237653.7_Missense_Mutation_p.M51I|ADH6_ENST00000394899.2_Missense_Mutation_p.M51I			P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	51					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	CCAACACTTTCATCTCTGTAC	0.488000													22	40					0	0	0.002780	0	0
MAGEC1	9947	broad.mit.edu	37	X	140996503	140996503	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:140996503G>A	ENST00000285879.4	+	4	3599	c.3313G>A	c.(3313-3315)Gat>Aat	p.D1105N	MAGEC1_ENST00000406005.2_Missense_Mutation_p.D172N	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1105	MAGE.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTCTTACAAGGATGCTTTGAA	0.463000										HNSCC(15;0.026)			53	121					0	0	0.003610	0	0
GPC5	2262	broad.mit.edu	37	13	92560288	92560288	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr13:92560288G>A	ENST00000377067.3	+	6	1750	c.1378G>A	c.(1378-1380)Gat>Aat	p.D460N		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	460						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TCAGATTATTGATAAACTGAA	0.328000													7	29					0	0	0.003080	0	0
RP11-481J13.1	0	broad.mit.edu	37	2	56216086	56216086	+	RNA	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:56216086C>T	ENST00000606639.1	+	0	82				MIR216A_ENST00000385063.1_RNA|AC011306.2_ENST00000446139.1_lincRNA																							TCTTTTGATTCGTGAGGGCTA	0.423000													39	105					0	0	0.003610	0	0
MYH4	4622	broad.mit.edu	37	17	10351250	10351250	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:10351250C>T	ENST00000255381.2	-	34	4960	c.4850G>A	c.(4849-4851)aGg>aAg	p.R1617K	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1617					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTTCTTGATCCTCAGAGCATC	0.463000													60	122					0	0	0.003610	0	0
TNFSF15	9966	broad.mit.edu	37	9	117553070	117553070	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:117553070G>A	ENST00000374045.4	-	4	531	c.418C>T	c.(418-420)Ctg>Ttg	p.L140L	TNFSF15_ENST00000374044.1_Silent_p.L63L	NM_001204344.1|NM_005118.3	NP_001191273.1|NP_005109.2	O95150	TNF15_HUMAN	tumor necrosis factor (ligand) superfamily, member 15	140					activation of caspase activity|activation of NF-kappaB-inducing kinase activity|cytokine metabolic process|immune response	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						TCTGGGATCAGCAGGAATTTG	0.488000													23	43					0	0	0.001882	0	0
HEATR4	399671	broad.mit.edu	37	14	73989321	73989321	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:73989321G>A	ENST00000553558.1	-	3	857	c.536C>T	c.(535-537)cCt>cTt	p.P179L	HEATR4_ENST00000334988.2_Missense_Mutation_p.P179L|HEATR4_ENST00000560393.1_Missense_Mutation_p.P132L	NM_001220484.1	NP_001207413.1			HEAT repeat containing 4											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		ATCTAGAGAAGGTGGCCGACC	0.572000													9	30					0	0	0.006214	0	0
EMR1	2015	broad.mit.edu	37	19	6937282	6937282	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:6937282C>T	ENST00000312053.4	+	19	2447	c.2410C>T	c.(2410-2412)Ctc>Ttc	p.L804F	EMR1_ENST00000450315.3_Missense_Mutation_p.L627F|EMR1_ENST00000381407.5_Missense_Mutation_p.L663F|EMR1_ENST00000381404.4_Missense_Mutation_p.L785F|EMR1_ENST00000250572.8_Missense_Mutation_p.L739F	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	804					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					CTTTGCCCAGCTCTTCATCCT	0.547000													36	70					0	0	0.007835	0	0
DCDC1	341019	broad.mit.edu	37	11	30902748	30902748	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:30902748C>A	ENST00000597505.1	-	35	5180	c.5181G>T	c.(5179-5181)atG>atT	p.M1727I				P59894	DCDC1_HUMAN	doublecortin domain containing 1	233					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CACAGATGACCATATCTCGCT	0.448000													7	21					5.18039e-06	5.23882e-06	0.003080	1	0
SERPINA11	256394	broad.mit.edu	37	14	94909132	94909132	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:94909132C>T	ENST00000334708.3	-	5	1144	c.1080G>A	c.(1078-1080)gcG>gcA	p.A360A	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	360					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		TGTCCACCATCGCCTTGTGTG	0.562000													7	27					0	0	0.003080	0	0
KLF5	688	broad.mit.edu	37	13	73636401	73636401	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr13:73636401C>T	ENST00000377687.4	+	2	1200	c.664C>T	c.(664-666)Cct>Tct	p.P222S	KLF5_ENST00000539231.1_Missense_Mutation_p.P131S|KLF5_ENST00000477333.1_3'UTR	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	222					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		TCTTTCTGTCCCTACCCAGCA	0.458000													28	57					0	0	0.006320	0	0
SBK1	388228	broad.mit.edu	37	16	28331844	28331844	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:28331844C>T	ENST00000341901.4	+	4	1666	c.877C>T	c.(877-879)Cag>Tag	p.Q293*		NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN	SH3 domain binding kinase 1	293	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			kidney(1)|lung(3)|ovary(1)	5						GCGCATGTTCCAGCGCTTACT	0.726000													7	14					0	0	0.001984	0	0
SLC4A10	57282	broad.mit.edu	37	2	162661004	162661004	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:162661004G>A	ENST00000375514.5	+	4	496	c.209G>A	c.(208-210)aGa>aAa	p.R70K	SLC4A10_ENST00000421911.1_Missense_Mutation_p.R59K|SLC4A10_ENST00000415876.2_Missense_Mutation_p.R59K|SLC4A10_ENST00000446997.1_Missense_Mutation_p.R59K|SLC4A10_ENST00000272716.5_Missense_Mutation_p.R59K|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000535165.1_Missense_Mutation_p.R59K	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	59					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TTGGGAGGAAGAAAAAGCCAT	0.428000													8	29					0	0	0.003080	0	0
UNC13C	440279	broad.mit.edu	37	15	54307826	54307826	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:54307826C>T	ENST00000545554.1	+	1	2726	c.2726C>T	c.(2725-2727)tCa>tTa	p.S909L	UNC13C_ENST00000260323.11_Missense_Mutation_p.S909L|UNC13C_ENST00000537900.1_Missense_Mutation_p.S909L			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	909					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)		GATCACCTTTCATATGAAACA	0.378000													21	65					0	0	0.001882	0	0
CD8B	926	broad.mit.edu	37	2	87085511	87085511	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:87085511C>T	ENST00000390655.6	-	2	130	c.72G>A	c.(70-72)caG>caA	p.Q24Q	CD8B_ENST00000393761.2_Silent_p.Q24Q|CD8B_ENST00000349455.3_Silent_p.Q24Q|CD8B_ENST00000431506.2_Intron|CD8B_ENST00000331469.2_Silent_p.Q24Q|CD8B_ENST00000393759.2_Silent_p.Q24Q	NM_004931.4	NP_004922.1	P10966	CD8B_HUMAN	CD8b molecule	24	Ig-like V-type.				immune response|regulation of defense response to virus by virus|regulation of immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction	early endosome|extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						ATGCAGGGGTCTGCTGGAGGA	0.502000													10	26					0	0	0.000978	0	0
MYH13	8735	broad.mit.edu	37	17	10258027	10258027	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:10258027G>A	ENST00000418404.3	-	10	1138	c.975C>T	c.(973-975)atC>atT	p.I325I	MYH13_ENST00000252172.4_Silent_p.I325I|MYH13_ENST00000570743.1_Silent_p.I325I			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	325	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CACTGTCATCGATACTGGCTA	0.453000													27	64					0	0	0.009535	0	0
GSPT2	23708	broad.mit.edu	37	X	51488235	51488235	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:51488235C>T	ENST00000340438.4	+	1	1755	c.1513C>T	c.(1513-1515)Cca>Tca	p.P505S		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	505					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					AGAGATTCTTCCAGGATTCAT	0.408000													9	42					0	0	0.006214	0	0
BCOR	54880	broad.mit.edu	37	X	39933510	39933510	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:39933510C>T	ENST00000342274.4	-	4	1451	c.1089G>A	c.(1087-1089)agG>agA	p.R363R	BCOR_ENST00000378444.4_Silent_p.R363R|BCOR_ENST00000397354.3_Silent_p.R363R|BCOR_ENST00000378455.4_Silent_p.R363R	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	363					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						AGGTGGAGATCCTGGCATAGT	0.607000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						13	33					0	0	0.002450	0	0
ABCG1	9619	broad.mit.edu	37	21	43716492	43716492	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr21:43716492C>G	ENST00000398437.1	+	16	2613	c.2465C>G	c.(2464-2466)gCa>gGa	p.A822G	ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000361802.2_Missense_Mutation_p.A676G|ABCG1_ENST00000340588.4_Missense_Mutation_p.A784G|ABCG1_ENST00000343687.3_Missense_Mutation_p.A675G|ABCG1_ENST00000398457.2_Missense_Mutation_p.A666G|ABCG1_ENST00000347800.2_Missense_Mutation_p.A661G|ABCG1_ENST00000398449.3_Missense_Mutation_p.A664G			P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	676					amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	AAAATCCGGGCAGAGAGGTAA	0.522000													6	18					0	0	0.001168	0	0
TCP10	6953	broad.mit.edu	37	6	167790034	167790034	+	Splice_Site	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:167790034C>T	ENST00000366827.2	-	5	787	c.576_splice	c.e5+1	p.K192_splice	TCP10_ENST00000397829.4_Splice_Site_p.K192_splice			Q12799	TCP10_HUMAN	t-complex 10	219						cytosol				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		CCGAGGTCACCTTTCCGTCTT	0.507000													30	49					0	0	0.002096	0	0
KCNQ5	56479	broad.mit.edu	37	6	73751747	73751747	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:73751747G>A	ENST00000342056.2	+	3	976	c.578G>A	c.(577-579)gGa>gAa	p.G193E	KCNQ5_ENST00000414165.2_Missense_Mutation_p.G193E|KCNQ5_ENST00000370392.1_Missense_Mutation_p.G193E|KCNQ5_ENST00000403813.2_Missense_Mutation_p.G193E|KCNQ5_ENST00000355635.3_Missense_Mutation_p.G193E|KCNQ5_ENST00000355194.4_Missense_Mutation_p.G193E|KCNQ5_ENST00000370398.1_Missense_Mutation_p.G193E|KCNQ5_ENST00000402622.2_Missense_Mutation_p.G193E	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	193					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		GGATGGCAAGGAAGACTGAGG	0.438000													53	46					0	0	0.003610	0	0
TRBV11-1	28582	broad.mit.edu	37	7	142223908	142223908	+	RNA	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:142223908C>T	ENST00000390367.3	-	0	275																											TTGAGCCTCTCTGCAGAAAAT	0.532000													23	153					0	0	0.002299	0	0
NBR1	4077	broad.mit.edu	37	17	41346379	41346379	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:41346379C>T	ENST00000422280.1	+	13	1996	c.1537C>T	c.(1537-1539)Ctg>Ttg	p.L513L	NBR1_ENST00000341165.6_Silent_p.L513L|NBR1_ENST00000590996.1_Silent_p.L513L|NBR1_ENST00000589872.1_Silent_p.L513L|NBR1_ENST00000542611.1_Silent_p.L492L|NBR1_ENST00000389312.4_Silent_p.L513L	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	513					macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		AACTTTTCTTCTGGCTAAAGA	0.453000													27	48					0	0	0.009535	0	0
FNDC1	84624	broad.mit.edu	37	6	159644600	159644600	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:159644600G>A	ENST00000297267.9	+	7	1007	c.807G>A	c.(805-807)cgG>cgA	p.R269R	FNDC1_ENST00000340366.6_Silent_p.R269R|FNDC1_ENST00000480856.1_3'UTR	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	269	Fibronectin type-III 3.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TCAGCGTCCGGGTTATGTCAT	0.458000													8	18					0	0	0.003080	0	0
MST1	4485	broad.mit.edu	37	3	49723577	49723577	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:49723577G>A	ENST00000449682.2	-	9	1426	c.1065C>T	c.(1063-1065)ccC>ccT	p.P355P	MST1_ENST00000383728.3_3'UTR	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	341	Kringle 3.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGAAGCACCAGGGCGCCTCTG	0.677000													8	15					0	0	0.003080	0	0
PCDH18	54510	broad.mit.edu	37	4	138450971	138450971	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:138450971C>T	ENST00000344876.4	-	1	2658	c.2272G>A	c.(2272-2274)Gac>Aac	p.D758N	PCDH18_ENST00000412923.2_Missense_Mutation_p.D758N|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.D538N	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	758					brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					AATGTGATGTCCCCTTTGTGA	0.498000													21	50					0	0	0.003330	0	0
CELSR3	1951	broad.mit.edu	37	3	48677414	48677414	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:48677414C>T	ENST00000544264.1	-	35	9899	c.9619G>A	c.(9619-9621)Gag>Aag	p.E3207K	CELSR3_ENST00000164024.4_Missense_Mutation_p.E3202K			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	3202					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)		TCCAGCTGCTCCCGAGAGTTC	0.677000													18	41					0	0	0.004990	0	0
PCED1B	91523	broad.mit.edu	37	12	47629749	47629749	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:47629749C>T	ENST00000546455.1	+	4	1634	c.903C>T	c.(901-903)ccC>ccT	p.P301P	PCED1B_ENST00000432328.1_Silent_p.P301P					PC-esterase domain containing 1B																		cataccgccccctgcttgggt	0.647000													10	29					0	0	0.006214	0	0
ADH1B	125	broad.mit.edu	37	4	100232727	100232727	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:100232727G>A	ENST00000305046.8	-	7	982	c.915C>T	c.(913-915)aaC>aaT	p.N305N	ADH1B_ENST00000394887.3_Silent_p.N265N			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	305					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	GCAGCATAGGGTTTATTGAGA	0.473000													46	103					0	0	0.003214	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101813514	101813514	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:101813514G>A	ENST00000506729.1	-	3	839	c.668C>T	c.(667-669)tCa>tTa	p.S223L	SLCO6A1_ENST00000379807.3_Missense_Mutation_p.S223L|SLCO6A1_ENST00000389019.3_Intron|SLCO6A1_ENST00000514551.1_Intron|SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000513675.1_Intron			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	223						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TGATTGGAATGATATACCACT	0.348000													26	51					0	0	0.006320	0	0
VARS	7407	broad.mit.edu	37	6	31753447	31753447	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:31753447G>A	ENST00000375663.3	-	9	1604	c.1164C>T	c.(1162-1164)acC>acT	p.T388T	VARS_ENST00000444930.2_Silent_p.T93T	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	388					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CCACCACCTGGGTGGCAATAC	0.632000													121	211					0	0	0.003610	0	0
OR4C16	219428	broad.mit.edu	37	11	55339783	55339783	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:55339783C>T	ENST00000314634.3	+	1	180	c.180C>T	c.(178-180)ttC>ttT	p.F60F		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TGTTCTTCTTCCTTTTCTACT	0.398000													39	44					0	0	0.005524	0	0
SPATA18	132671	broad.mit.edu	37	4	52943113	52943113	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:52943113C>T	ENST00000295213.4	+	7	1301	c.927C>T	c.(925-927)tcC>tcT	p.S309S	SPATA18_ENST00000419395.2_Silent_p.S277S	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	309	Ser-rich.				mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TCAGCGATTCCTATTCCCAGG	0.632000													12	26					0	0	0.003163	0	0
ASGR1	432	broad.mit.edu	37	17	7081841	7081841	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:7081841C>T	ENST00000574388.1	-	1	834	c.42G>A	c.(40-42)gaG>gaA	p.E14E	ASGR1_ENST00000269299.3_Silent_p.E14E			P07306	ASGR1_HUMAN	asialoglycoprotein receptor 1	14					receptor-mediated endocytosis	integral to plasma membrane	asialoglycoprotein receptor activity|metal ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	10						GGTCACTCTCCTCATTGTCCA	0.587000													17	29					0	0	0.006122	0	0
MACROD2	140733	broad.mit.edu	37	20	14066288	14066288	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:14066288C>T	ENST00000217246.4	+	3	580	c.185C>T	c.(184-186)tCc>tTc	p.S62F	MACROD2_ENST00000310348.4_Missense_Mutation_p.S62F	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	62	Macro.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				CAGGAAACATCCCAGGTGAAG	0.308000													5	10					0	0	0.001984	0	0
ZFHX4	79776	broad.mit.edu	37	8	77765833	77765833	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:77765833A>C	ENST00000521891.2	+	10	7124	c.6676A>C	c.(6676-6678)Aaa>Caa	p.K2226Q	ZFHX4_ENST00000518282.1_Missense_Mutation_p.K2200Q|ZFHX4_ENST00000455469.2_Missense_Mutation_p.K2181Q|ZFHX4_ENST00000050961.6_Missense_Mutation_p.K2181Q	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2181						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATCATTCAGTAAAAGGTCTTC	0.373000										HNSCC(33;0.089)			22	40					0	0	0.010504	0	0
GABRB2	2561	broad.mit.edu	37	5	160757921	160757921	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:160757921T>C	ENST00000274547.2	-	9	1263	c.1046A>G	c.(1045-1047)aAc>aGc	p.N349S	GABRB2_ENST00000393959.1_Missense_Mutation_p.N349S|GABRB2_ENST00000517901.1_Missense_Mutation_p.N286S|GABRB2_ENST00000520240.1_Missense_Mutation_p.N349S|GABRB2_ENST00000517547.1_Missense_Mutation_p.N189S|GABRB2_ENST00000353437.6_Missense_Mutation_p.N349S	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	349					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CTTCTCATTGTTGGCACTGGC	0.488000													43	93					0	0	0.002852	0	0
ZNF595	152687	broad.mit.edu	37	4	59328	59328	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:59328C>T	ENST00000509152.2	+	2	194	c.9C>T	c.(7-9)ctC>ctT	p.L3L	ZNF595_ENST00000339368.6_3'UTR|ZNF595_ENST00000526473.2_Silent_p.L3L					zinc finger protein 595											endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		TTCAGGAACTCGTAACATTCA	0.403000													29	381					0	0	0.002445	0	0
KIAA1462	57608	broad.mit.edu	37	10	30315735	30315735	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:30315735G>A	ENST00000375377.1	-	3	3443	c.3342C>T	c.(3340-3342)ccC>ccT	p.P1114P		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	1114										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CACTTGCATCGGGCTCAGCAG	0.637000													19	57					0	0	0.008871	0	0
CPA3	1359	broad.mit.edu	37	3	148596485	148596485	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:148596485C>T	ENST00000296046.3	+	5	476	c.424C>T	c.(424-426)Cgt>Tgt	p.R142C	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	142					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding	p.R142C(1)		NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			AATGGTCTCTCGTATTAAAAT	0.294000													46	73					0	0	0.003610	0	0
VCAN	1462	broad.mit.edu	37	5	82868369	82868369	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:82868369G>A	ENST00000265077.3	+	13	10435	c.9870G>A	c.(9868-9870)aaG>aaA	p.K3290K	VCAN_ENST00000342785.4_Silent_p.K1536K|VCAN_ENST00000343200.5_Silent_p.K2303K|VCAN_ENST00000512590.2_Silent_p.K1488K|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000502527.2_Silent_p.K549K	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3290	C-type lectin.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		ATACGTGCAAGAAAGGAACAG	0.363000													16	38					0	0	0.003163	0	0
ZFPM2	23414	broad.mit.edu	37	8	106813439	106813439	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:106813439G>A	ENST00000407775.2	+	8	1379	c.1129G>A	c.(1129-1131)Gag>Aag	p.E377K	ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.E245K|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.E245K|ZFPM2_ENST00000378472.4_Missense_Mutation_p.E108K|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	377					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GACTCAGAGGGAGTTATTGCA	0.507000													42	113					0	0	0.003610	0	0
FAM81B	153643	broad.mit.edu	37	5	94749762	94749762	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:94749762C>T	ENST00000283357.5	+	4	451	c.405C>T	c.(403-405)atC>atT	p.I135I		NM_152548.2	NP_689761.2	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B	135										central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		CCTTCCGCATCAAGGAGGACA	0.522000													21	42					0	0	0.010504	0	0
ACADS	35	broad.mit.edu	37	12	121177141	121177141	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:121177141C>G	ENST00000242592.4	+	10	1280	c.1129C>G	c.(1129-1131)Ccg>Gcg	p.P377A	ACADS_ENST00000411593.2_Missense_Mutation_p.P373A	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	377						mitochondrial matrix	butyryl-CoA dehydrogenase activity			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)	GACAGAGATGCCGGCAGAGCG	0.632000													124	263					0	0	0.003610	0	0
UNC13C	440279	broad.mit.edu	37	15	54916041	54916041	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:54916041C>T	ENST00000545554.1	+	31	6248	c.6248C>T	c.(6247-6249)cCc>cTc	p.P2083L	UNC13C_ENST00000260323.11_Missense_Mutation_p.P2083L|UNC13C_ENST00000537900.1_Missense_Mutation_p.P2081L|UNC13C_ENST00000539562.2_Missense_Mutation_p.P4L			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	2083	C2 2.				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)		ATGTTCCGCCCCTTTGTGGAA	0.383000													11	26					0	0	0.000978	0	0
PARM1	25849	broad.mit.edu	37	4	75938248	75938248	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:75938248A>T	ENST00000307428.7	+	2	869	c.657A>T	c.(655-657)aaA>aaT	p.K219N	PARM1_ENST00000513238.1_Intron|RP11-44F21.2_ENST00000513770.1_RNA	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	219					positive regulation of telomerase activity	early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						CCCAGGAGAAAACACCCCCAA	0.552000													19	55					0	0	0.008871	0	0
ACSM2B	348158	broad.mit.edu	37	16	20559389	20559389	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:20559389C>T	ENST00000329697.6	-	8	1261	c.1093G>A	c.(1093-1095)Gaa>Aaa	p.E365K	ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000565322.1_Missense_Mutation_p.E286K|ACSM2B_ENST00000567001.1_Missense_Mutation_p.E365K|ACSM2B_ENST00000565232.1_Missense_Mutation_p.E365K	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	365					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GGTACCGTTTCTGTCTGGCCA	0.498000													65	180					0	0	0.003610	0	0
SYNJ1	8867	broad.mit.edu	37	21	34003737	34003737	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr21:34003737G>A	ENST00000382491.3	-	28	4273	c.4149C>T	c.(4147-4149)ttC>ttT	p.F1383F	SYNJ1_ENST00000382499.2_3'UTR|SYNJ1_ENST00000322229.7_Silent_p.F1430F|SYNJ1_ENST00000357345.3_3'UTR|SYNJ1_ENST00000433931.2_Silent_p.F1469F	NM_001160306.1	NP_001153778.1	O43426	SYNJ1_HUMAN	synaptojanin 1	1430	Pro-rich.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						CTTCTTTGGAGAACCATGAAG	0.468000													19	37					0	0	0.006122	0	0
CDH7	1005	broad.mit.edu	37	18	63547909	63547909	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:63547909G>A	ENST00000397968.2	+	12	2563	c.2137G>A	c.(2137-2139)Gaa>Aaa	p.E713K	CDH7_ENST00000323011.3_Missense_Mutation_p.E713K	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	713					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				ATTTATTTGGGAAAGATTAAA	0.438000													23	56					0	0	0.002780	0	0
SHROOM4	57477	broad.mit.edu	37	X	50345782	50345782	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:50345782C>T	ENST00000376020.2	-	7	3818	c.3793G>A	c.(3793-3795)Ggg>Agg	p.G1265R	SHROOM4_ENST00000289292.7_Missense_Mutation_p.G1265R|SHROOM4_ENST00000460112.3_Missense_Mutation_p.G1149R	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1265	ASD2.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					CCTGGGGCCCCTGAAGGAGGC	0.463000													25	37					0	0	0.003954	0	0
JADE3	9767	broad.mit.edu	37	X	46915589	46915589	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:46915589G>A	ENST00000218343.4	+	10	1847	c.1549G>A	c.(1549-1551)Gaa>Aaa	p.E517K	PHF16_ENST00000397189.1_Missense_Mutation_p.E517K	NM_014735.3	NP_055550.1	Q92613	JADE3_HUMAN		517					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						TCTTAACCAAGAAATTGATGC	0.358000													9	17					0	0	0.008291	0	0
BNC1	646	broad.mit.edu	37	15	83933428	83933428	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:83933428G>A	ENST00000345382.2	-	4	660	c.575C>T	c.(574-576)tCc>tTc	p.S192F	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.S185F	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	192					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						TATGATGATGGATTGCTCTTC	0.473000													39	114					0	0	0.006999	0	0
CSTL1	128817	broad.mit.edu	37	20	23421109	23421109	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:23421109C>T	ENST00000347397.1	+	2	451	c.205C>T	c.(205-207)Cga>Tga	p.R69*	CSTL1_ENST00000472140.1_3'UTR|CSTL1_ENST00000246020.2_Nonsense_Mutation_p.R69*	NM_138283.1	NP_612140.1	Q9H114	CST1L_HUMAN	cystatin-like 1	69						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(2)|endometrium(2)|large_intestine(3)|lung(4)|skin(2)|stomach(1)	14	Colorectal(13;0.0993)|Lung NSC(19;0.235)					GAGGCTAATTCGAAGTCAGAT	0.463000													30	41					0	0	0.007291	0	0
SEC23IP	11196	broad.mit.edu	37	10	121675273	121675273	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:121675273G>A	ENST00000369075.3	+	8	1488	c.1416G>A	c.(1414-1416)agG>agA	p.R472R	SEC23IP_ENST00000543134.1_Silent_p.R261R	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	472					Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		ATGATTTTAGGGTGGTTTCTC	0.358000													17	30					0	0	0.004990	0	0
NPSR1	387129	broad.mit.edu	37	7	34818119	34818119	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:34818119G>A	ENST00000360581.1	+	3	454	c.326G>A	c.(325-327)cGa>cAa	p.R109Q	NPSR1_ENST00000531252.1_Missense_Mutation_p.R98Q|NPSR1_ENST00000381553.3_Missense_Mutation_p.R109Q|NPSR1_ENST00000381542.1_Intron|NPSR1_ENST00000381539.3_Missense_Mutation_p.R109Q|NPSR1_ENST00000359791.1_Missense_Mutation_p.R109Q	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	109						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	ATTAATTGGCGATTCACTGGA	0.403000													11	40					0	0	0.003163	0	0
LILRA3	11026	broad.mit.edu	37	19	54802747	54802747	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:54802747G>A	ENST00000391745.1	-	9	1061	c.745C>T	c.(745-747)Ccg>Tcg	p.P249S	LILRA3_ENST00000251390.3_Missense_Mutation_p.P232S|LILRA3_ENST00000391744.3_Missense_Mutation_p.P168S					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3											NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ACAGGACCCGGCTGCACTGAG	0.572000													20	6					0	0	0.002780	0	0
CCDC60	160777	broad.mit.edu	37	12	119978481	119978481	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:119978481G>A	ENST00000327554.2	+	14	2079	c.1614G>A	c.(1612-1614)cgG>cgA	p.R538R	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	538										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		TGCAGAGCCGGATCAACATAC	0.522000													16	77					0	0	0.004990	0	0
PSMD2	5708	broad.mit.edu	37	3	184026631	184026631	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:184026631C>T	ENST00000310118.4	+	21	3238	c.2680C>T	c.(2680-2682)Ctg>Ttg	p.L894L	PSMD2_ENST00000435761.1_Silent_p.L735L|PSMD2_ENST00000439383.1_Silent_p.L764L|EIF2B5_ENST00000444495.1_Intron	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	894					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)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	TACCCCCATTCTGGAAGGTTT	0.517000											OREG0015948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	101	150					0	0	0.003610	0	0
ZNF37BP	100129482	broad.mit.edu	37	10	43016349	43016349	+	RNA	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:43016349G>A	ENST00000473592.1	-	0	2850																											GAATTCTCAGGGAAAGCTTTC	0.373000													11	27					0	0	0.000978	0	0
GHR	2690	broad.mit.edu	37	5	42718806	42718806	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:42718806C>T	ENST00000230882.4	+	10	1387	c.1197C>T	c.(1195-1197)ttC>ttT	p.F399F	GHR_ENST00000357703.3_Silent_p.F377F|GHR_ENST00000513625.1_3'UTR|GHR_ENST00000537449.1_Silent_p.F212F	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	399					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AGACTGATTTCAATGCCAATG	0.458000													28	51					0	0	0.002096	0	0
ATXN1	6310	broad.mit.edu	37	6	16328529	16328529	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:16328529G>A	ENST00000244769.4	-	8	949	c.13C>T	c.(13-15)Caa>Taa	p.Q5*	ATXN1_ENST00000436367.1_Nonsense_Mutation_p.Q5*	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	5					cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				CTCCGCTCTTGGTTGGATTTC	0.557000													12	29					0	0	0.001368	0	0
SCN7A	6332	broad.mit.edu	37	2	167262984	167262984	+	Silent	SNP	A	A	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:167262984A>C	ENST00000409855.1	-	25	4281	c.4155T>G	c.(4153-4155)ctT>ctG	p.L1385L		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1385					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						GGAAGATGAGAAGAATGATGT	0.373000													15	75					0	0	0.002450	0	0
SCN11A	11280	broad.mit.edu	37	3	38908887	38908887	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:38908887G>A	ENST00000302328.3	-	23	4074	c.3876C>T	c.(3874-3876)atC>atT	p.I1292I	SCN11A_ENST00000444237.2_Silent_p.I1292I|SCN11A_ENST00000456224.3_Silent_p.I1254I|SCN11A_ENST00000450244.1_Silent_p.I1292I	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1292					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	AGCCAAAGATGATAAAGACTA	0.333000													20	38					0	0	0.001882	0	0
PREPL	9581	broad.mit.edu	37	2	44573430	44573430	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:44573430C>T	ENST00000541738.1	-	2	438	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K	PREPL_ENST00000378520.3_Missense_Mutation_p.E107K|PREPL_ENST00000540817.1_5'UTR|PREPL_ENST00000409936.1_Missense_Mutation_p.E107K|PREPL_ENST00000410081.1_Missense_Mutation_p.E107K|PREPL_ENST00000378511.3_Missense_Mutation_p.E107K|PREPL_ENST00000409957.1_Missense_Mutation_p.E18K|PREPL_ENST00000409272.1_Missense_Mutation_p.E107K|PREPL_ENST00000409411.1_Missense_Mutation_p.E18K|PREPL_ENST00000260648.6_Missense_Mutation_p.E107K	NM_001171617.1	NP_001165088.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	107					proteolysis	cytosol	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ATTTCATATTCTTCTTGTGGC	0.318000													12	32					0	0	0.001368	0	0
KRTAP3-1	83896	broad.mit.edu	37	17	39165283	39165283	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:39165283G>A	ENST00000391588.1	-	1	83	c.44C>T	c.(43-45)cCt>cTt	p.P15L	KRTAP3-1_ENST00000581033.1_5'UTR	NM_031958.1	NP_114164.1	Q9BYR8	KRA31_HUMAN	keratin associated protein 3-1	15	4 X 5 AA repeats of C-C-X(3).					keratin filament	structural molecule activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00043)				GGTGGTGGCAGGGCCGGTGGG	0.562000													42	74					0	0	0.003610	0	0
HNF1B	6928	broad.mit.edu	37	17	36099564	36099564	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:36099564C>T	ENST00000225893.4	-	2	772	c.411G>A	c.(409-411)agG>agA	p.R137R	HNF1B_ENST00000561193.1_Silent_p.R137R|HNF1B_ENST00000560016.1_Silent_p.R137R|HNF1B_ENST00000427275.2_Silent_p.R137R	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	137					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			CGACCACCTCCCTCTGGGGGA	0.552000													236	475					0	0	0.003610	0	0
GMIP	51291	broad.mit.edu	37	19	19745420	19745420	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:19745420G>A	ENST00000203556.4	-	18	2117	c.1980C>T	c.(1978-1980)acC>acT	p.T660T	GMIP_ENST00000445806.2_Silent_p.T631T|GMIP_ENST00000586269.1_Intron|GMIP_ENST00000587238.1_Silent_p.T634T	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	660	Rho-GAP.				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TGGGGCTGGGGGTCCCAGGGT	0.622000													54	158					0	0	0.003610	0	0
KRT33B	3884	broad.mit.edu	37	17	39520160	39520160	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:39520160G>A	ENST00000251646.3	-	7	1192	c.1143C>T	c.(1141-1143)ccC>ccT	p.P381P		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	381	Tail.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				AGGATCCAATGGGCTTTTCAC	0.542000													26	54					0	0	0.006320	0	0
ZNF257	113835	broad.mit.edu	37	19	22270818	22270818	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:22270818G>A	ENST00000594947.1	+	4	410	c.266G>A	c.(265-267)cGa>cAa	p.R89Q	ZNF257_ENST00000600162.1_3'UTR	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	89					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R89Q(1)		haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGCCCAGAGCGAGACATAAAA	0.313000													8	37					0	0	0.006214	0	0
DSG1	1828	broad.mit.edu	37	18	28923508	28923508	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:28923508C>T	ENST00000257192.4	+	12	1995	c.1783C>T	c.(1783-1785)Cat>Tat	p.H595Y	RP11-534N16.1_ENST00000578119.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	595					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)			TGGAGCAATTCATTCATGGGC	0.473000													30	68					0	0	0.006320	0	0
HTR5A	3361	broad.mit.edu	37	7	154876044	154876044	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:154876044C>T	ENST00000287907.2	+	2	1497	c.921C>T	c.(919-921)atC>atT	p.I307I	HTR5A_ENST00000486819.1_3'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	307						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		CCGAGCTCATCAGTCCCCTCT	0.582000													46	149					0	0	0.003610	0	0
ITIH5	80760	broad.mit.edu	37	10	7618460	7618460	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:7618460G>A	ENST00000256861.6	-	10	2012	c.1934C>T	c.(1933-1935)cCc>cTc	p.P645L	ITIH5_ENST00000446830.2_Missense_Mutation_p.P427L|ITIH5_ENST00000397145.2_Missense_Mutation_p.P645L|ITIH5_ENST00000397146.2_Missense_Mutation_p.P645L|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000298441.6_Missense_Mutation_p.P431L	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	645					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CACCGGTTCGGGTCCCATGGC	0.672000													9	26					0	0	0.006214	0	0
CSMD3	114788	broad.mit.edu	37	8	114326902	114326902	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:114326902C>T	ENST00000297405.5	-	2	543	c.299G>A	c.(298-300)cGa>cAa	p.R100Q	CSMD3_ENST00000455883.2_Missense_Mutation_p.R100Q|CSMD3_ENST00000352409.3_Missense_Mutation_p.R100Q|CSMD3_ENST00000343508.3_Missense_Mutation_p.R60Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	100	CUB 1.					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						TATTCTATTTCGTTCTTCTGC	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			26	60					0	0	0.004656	0	0
MCTP2	55784	broad.mit.edu	37	15	94911016	94911016	+	Missense_Mutation	SNP	G	G	A	rs140445827		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:94911016G>A	ENST00000357742.4	+	10	1484	c.1484G>A	c.(1483-1485)cGa>cAa	p.R495Q	MCTP2_ENST00000557742.1_Missense_Mutation_p.R83Q|MCTP2_ENST00000331706.4_Missense_Mutation_p.R83Q|MCTP2_ENST00000451018.3_Missense_Mutation_p.R495Q	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	495					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			ATTACCCAGCGATATGTGAGT	0.448000													17	38					0	0	0.006122	0	0
ITGA5	3678	broad.mit.edu	37	12	54796786	54796786	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:54796786G>A	ENST00000293379.4	-	19	2224	c.1963C>T	c.(1963-1965)Ctg>Ttg	p.L655L	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	655					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						TCCAGCTGCAGGTCAGGCACA	0.552000													29	52					0	0	0.002445	0	0
NLRP13	126204	broad.mit.edu	37	19	56421954	56421954	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:56421954G>A	ENST00000588751.1	-	6	2281	c.2257C>T	c.(2257-2259)Cca>Tca	p.P753S	NLRP13_ENST00000342929.3_Missense_Mutation_p.P753S			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	753							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TTGCATCTTGGATTTTTCAGT	0.458000													21	61					0	0	0.002780	0	0
MORC3	23515	broad.mit.edu	37	21	37744705	37744705	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr21:37744705C>T	ENST00000400485.1	+	16	2618	c.2542C>T	c.(2542-2544)Cgt>Tgt	p.R848C	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	848					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						GTCACAAATCCGTTCACAGTG	0.323000													17	46					0	0	0.001882	0	0
CNTRL	11064	broad.mit.edu	37	9	123911110	123911110	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:123911110G>A	ENST00000373855.1	+	24	3880	c.3620G>A	c.(3619-3621)aGt>aAt	p.S1207N	CNTRL_ENST00000373847.1_Missense_Mutation_p.S655N|CNTRL_ENST00000238341.5_Missense_Mutation_p.S1207N|CNTRL_ENST00000373850.1_Missense_Mutation_p.S655N			Q7Z7A1	CNTRL_HUMAN	centriolin	1207					cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						CCCATCAGGAGTGGGTTACAT	0.458000													9	31					0	0	0.008291	0	0
LRBA	987	broad.mit.edu	37	4	151604791	151604791	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:151604791G>A	ENST00000535741.1	-	37	6306	c.5833C>T	c.(5833-5835)Cgt>Tgt	p.R1945C	LRBA_ENST00000510413.1_Missense_Mutation_p.R1945C|LRBA_ENST00000507224.1_Missense_Mutation_p.R1945C|LRBA_ENST00000357115.3_Missense_Mutation_p.R1945C			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1945						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					ACGTGGTCACGATATTTTGCT	0.408000													12	48					0	0	0.000978	0	0
NOS1	4842	broad.mit.edu	37	12	117768438	117768438	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:117768438G>A	ENST00000317775.6	-	2	1122	c.437C>T	c.(436-438)cCc>cTc	p.P146L	NOS1_ENST00000344089.3_Missense_Mutation_p.P146L|NOS1_ENST00000338101.4_Missense_Mutation_p.P146L	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	146	Interaction with NOSIP (By similarity).				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)	CACTGCCAGGGGCTGTTCTTT	0.682000													27	65					0	0	0.005443	0	0
ASXL2	55252	broad.mit.edu	37	2	25973193	25973193	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:25973193G>A	ENST00000435504.4	-	12	1525	c.1232C>T	c.(1231-1233)tCc>tTc	p.S411F	ASXL2_ENST00000336112.4_Missense_Mutation_p.S383F|ASXL2_ENST00000272341.4_Missense_Mutation_p.S151F|ASXL2_ENST00000404843.1_Missense_Mutation_p.S151F			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	411					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACAGGCATGGATTTTGGTTG	0.443000													67	178					0	0	0.003610	0	0
OR51B6	390058	broad.mit.edu	37	11	5373574	5373574	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:5373574C>T	ENST00000380219.1	+	1	837	c.837C>T	c.(835-837)ttC>ttT	p.F279F	AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACATCCACTTCCTTTTCCCAC	0.393000													28	46					0	0	0.005443	0	0
MUC16	94025	broad.mit.edu	37	19	8995693	8995693	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:8995693C>T	ENST00000397910.4	-	63	41498	c.41295G>A	c.(41293-41295)ggG>ggA	p.G13765G	MUC16_ENST00000380951.5_Silent_p.G406G	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13767				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						CTGTGGGGGTCCCAGGAGCTG	0.488000													6	16					0	0	0.001168	0	0
PYGO2	90780	broad.mit.edu	37	1	154931902	154931902	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:154931902G>A	ENST00000368457.2	-	3	745	c.574C>T	c.(574-576)Ccc>Tcc	p.P192S	PYGO2_ENST00000368456.1_Missense_Mutation_p.P155S	NM_138300.3	NP_612157.1	Q9BRQ0	PYGO2_HUMAN	pygopus family PHD finger 2	192	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding|zinc ion binding	p.P192S(1)		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)			GAGATCATGGGACCAAATCCC	0.587000													23	112					0	0	0.003330	0	0
TTN	7273	broad.mit.edu	37	2	179560116	179560116	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:179560116G>A	ENST00000589042.1	-	115	31453	c.31229C>T	c.(31228-31230)cCa>cTa	p.P10410L	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P10093L|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P9166L|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10093	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TACTTTGGCTGGAACTTTTCT	0.338000													20	67					0	0	0.001882	0	0
USP10	9100	broad.mit.edu	37	16	84792359	84792359	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:84792359G>A	ENST00000219473.7	+	5	1343	c.1230G>A	c.(1228-1230)gtG>gtA	p.V410V	USP10_ENST00000570191.1_Silent_p.V414V	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	410					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						ATAAACCAGTGTCGTTGCAAC	0.448000													30	72					0	0	0.002096	0	0
KIAA2022	340533	broad.mit.edu	37	X	73960926	73960926	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:73960926G>A	ENST00000373468.1	-	3	4117	c.3466C>T	c.(3466-3468)Ctg>Ttg	p.L1156L	KIAA2022_ENST00000055682.5_Silent_p.L1156L			Q5QGS0	K2022_HUMAN	KIAA2022	1156					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						AATGTTGACAGGCAAGGGTTT	0.393000													25	75					0	0	0.008361	0	0
TBX19	9095	broad.mit.edu	37	1	168282176	168282176	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:168282176C>T	ENST00000367821.3	+	8	1334	c.1283C>T	c.(1282-1284)cCc>cTc	p.P428L	TBX19_ENST00000465440.1_3'UTR	NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	428					anatomical structure morphogenesis	nucleus	DNA binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					GCCTCGCATCCCTTCGCGGGC	0.622000													17	49					0	0	0.004990	0	0
CYP4X1	260293	broad.mit.edu	37	1	47515764	47515764	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:47515764G>A	ENST00000371901.3	+	12	1698	c.1448G>A	c.(1447-1449)aGg>aAg	p.R483K	CYP4X1_ENST00000538609.1_Missense_Mutation_p.R482K	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	483						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						GACCCCACCAGGCCTCTTACT	0.458000													43	75					0	0	0.008740	0	0
IFIT2	3433	broad.mit.edu	37	10	91066442	91066442	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:91066442C>T	ENST00000371826.3	+	2	898	c.729C>T	c.(727-729)gcC>gcT	p.A243A	LIPA_ENST00000487618.1_Intron|LIPA_ENST00000371837.1_Intron	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN	interferon-induced protein with tetratricopeptide repeats 2	243					negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				TGGAGAAAGCCCCAGGTGTAA	0.438000													17	44					0	0	0.004007	0	0
LRRC18	474354	broad.mit.edu	37	10	50121667	50121667	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:50121667G>A	ENST00000374160.3	-	1	610	c.534C>T	c.(532-534)ccC>ccT	p.P178P	RP11-523O18.7_ENST00000430438.1_RNA|WDFY4_ENST00000413659.2_Intron|LRRC18_ENST00000298124.3_Silent_p.P178P|WDFY4_ENST00000325239.5_Intron	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	178						cytoplasm				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						GCTTTGGAAAGGGGTTCCGCT	0.512000													12	41					0	0	0.000978	0	0
GPR116	221395	broad.mit.edu	37	6	46846023	46846023	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:46846023G>A	ENST00000283296.7	-	10	1444	c.1156C>T	c.(1156-1158)Cct>Tct	p.P386S	GPR116_ENST00000265417.7_Missense_Mutation_p.P386S|GPR116_ENST00000362015.4_Missense_Mutation_p.P386S|GPR116_ENST00000456426.2_Intron	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	386	Ig-like 2.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			AAAGATACAGGATTGTTGTCG	0.353000													14	45					0	0	0.003163	0	0
DSG3	1830	broad.mit.edu	37	18	29038546	29038546	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:29038546G>A	ENST00000257189.4	+	4	438	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	119	Cadherin 1.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CGACCGGGAGGAAACTCCAAG	0.438000													9	25					0	0	0.006214	0	0
CCDC116	164592	broad.mit.edu	37	22	21989287	21989287	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr22:21989287C>T	ENST00000292779.3	+	4	1096	c.935C>T	c.(934-936)gCc>gTc	p.A312V		NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	312										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					CTCTTCCCTGCCCTGCAAAGC	0.652000													24	66					0	0	0.002780	0	0
CEP135	9662	broad.mit.edu	37	4	56878146	56878146	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:56878146C>T	ENST00000257287.4	+	21	2921	c.2797C>T	c.(2797-2799)Caa>Taa	p.Q933*		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	933					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding	p.Q933E(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					AAAAGAAATTCAAGAGGTAAT	0.299000													5	10					0	0	0.000602	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480581	140480581	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:140480581C>T	ENST00000231130.2	+	1	348	c.348C>T	c.(346-348)ttC>ttT	p.F116F	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		116	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTTGCAATTCGTTACAAACG	0.418000													40	48					0	0	0.004878	0	0
MYO9A	4649	broad.mit.edu	37	15	72195386	72195386	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:72195386G>A	ENST00000356056.5	-	22	3368	c.2896C>T	c.(2896-2898)Cat>Tat	p.H966Y	MYO9A_ENST00000424560.1_Missense_Mutation_p.H966Y|MYO9A_ENST00000566885.1_Missense_Mutation_p.H586Y|MYO9A_ENST00000564571.1_Missense_Mutation_p.H966Y|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.H947Y	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	966	Myosin head-like 2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AGAAGTACATGGAAGTGGCTC	0.269000													12	30					0	0	0.001368	0	0
CASR	846	broad.mit.edu	37	3	121980863	121980863	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:121980863C>T	ENST00000498619.1	+	4	1419	c.981C>T	c.(979-981)atC>atT	p.I327I	CASR_ENST00000296154.5_Silent_p.I327I|CASR_ENST00000490131.1_Silent_p.I327I	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	327					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CTGGGCAGATCCCAGGCTTCC	0.567000													23	53					0	0	0.002299	0	0
MUC17	140453	broad.mit.edu	37	7	100685898	100685898	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:100685898C>T	ENST00000306151.4	+	3	11265	c.11201C>T	c.(11200-11202)tCt>tTt	p.S3734F		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3734	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)					GCCATTTCATCTTCTGCAACT	0.507000													70	153					0	0	0.003610	0	0
MAGEC3	139081	broad.mit.edu	37	X	140953268	140953268	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:140953268G>A	ENST00000298296.1	+	2	135	c.135G>A	c.(133-135)aaG>aaA	p.K45K		NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	45										NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					CCCGGAAAAAGGCCACAGATA	0.483000													19	44					0	0	0.008871	0	0
FRMPD4	9758	broad.mit.edu	37	X	12708397	12708397	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:12708397G>A	ENST00000380682.1	+	8	1271	c.765G>A	c.(763-765)ggG>ggA	p.G255G		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	255	FERM.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GGACAGAAGGGGCTGGAACGA	0.483000													40	89					0	0	0.006999	0	0
ZCWPW2	152098	broad.mit.edu	37	3	28476714	28476714	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:28476714C>T	ENST00000383768.2	+	4	634	c.446C>T	c.(445-447)tCa>tTa	p.S149L	ZCWPW2_ENST00000421010.1_Missense_Mutation_p.S149L			Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	149	PWWP.						zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						CATTCAAGATCATGGATAAAG	0.363000													17	47					0	0	0.006122	0	0
ATP6V0A2	23545	broad.mit.edu	37	12	124221681	124221681	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:124221681C>T	ENST00000330342.3	+	9	1149	c.901C>T	c.(901-903)Cag>Tag	p.Q301*		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	301					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		CCGTGTGATCCAGGTGAAGAA	0.517000													33	69					0	0	0.004289	0	0
SEC14L3	266629	broad.mit.edu	37	22	30864642	30864642	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr22:30864642G>A	ENST00000403066.1	-	6	382	c.99C>T	c.(97-99)gaC>gaT	p.D33D	SEC14L3_ENST00000402286.1_Silent_p.D15D|SEC14L3_ENST00000401751.1_Silent_p.D33D|SEC14L3_ENST00000215812.4_Silent_p.D92D|SEC14L3_ENST00000415957.2_Silent_p.D33D|SEC14L3_ENST00000540910.1_Silent_p.D15D|SEC14L3_ENST00000539629.1_Silent_p.D33D			Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	92						integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	AGCCATCACGGTCATAGCCAC	0.547000													40	87					0	0	0.002522	0	0
MAGEB1	4112	broad.mit.edu	37	X	30269469	30269469	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:30269469G>A	ENST00000378981.3	+	4	1180	c.859G>A	c.(859-861)Gag>Aag	p.E287K	MAGEB1_ENST00000397548.2_Missense_Mutation_p.E287K|MAGEB1_ENST00000397550.1_Missense_Mutation_p.E287K	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	287	MAGE.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						GAAAGTCCTCGAGTTTTTGGC	0.512000													20	68					0	0	0.001882	0	0
KIAA0408	9729	broad.mit.edu	37	6	127768625	127768625	+	Missense_Mutation	SNP	G	G	A	rs140703945		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:127768625G>A	ENST00000483725.3	-	5	1175	c.839C>T	c.(838-840)tCg>tTg	p.S280L	SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	280							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		TTCAGAATCCGAGCTGGGAAA	0.423000													38	34					0	0	0.006999	0	0
VSIG1	340547	broad.mit.edu	37	X	107310287	107310287	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:107310287G>A	ENST00000415430.3	+	4	604	c.443G>A	c.(442-444)gGa>gAa	p.G148E	VSIG1_ENST00000217957.5_Missense_Mutation_p.G112E|VSIG1_ENST00000485533.1_3'UTR	NM_001170553.1	NP_001164024.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	112	Ig-like C2-type 2.					integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						GCAGACAGTGGAATTTACATC	0.458000													52	122					0	0	0.003610	0	0
NCOR1P1	149934	broad.mit.edu	37	20	26084174	26084174	+	RNA	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:26084174C>T	ENST00000478176.1	-	0	283					NR_003678.1																						TGCAATTTCTCGATCTACACG	0.363000													7	23					0	0	0.001984	0	0
EDDM3A	10876	broad.mit.edu	37	14	21216049	21216049	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:21216049G>A	ENST00000326842.2	+	2	437	c.310G>A	c.(310-312)Gag>Aag	p.E104K		NM_006683.4	NP_006674.2	Q14507	EP3A_HUMAN	epididymal protein 3A	104					sperm displacement	extracellular space				breast(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						CAAAGTACTCGAGTGTCACTG	0.443000													9	29					0	0	0.004482	0	0
ZNF536	9745	broad.mit.edu	37	19	30934865	30934865	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:30934865C>T	ENST00000355537.3	+	2	543	c.396C>T	c.(394-396)tgC>tgT	p.C132C		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	132					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AGTACCCGTGCCCACTCTGCG	0.622000													17	43					0	0	0.006122	0	0
RBP3	5949	broad.mit.edu	37	10	48385879	48385879	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:48385879G>A	ENST00000224600.4	-	2	3326	c.3213C>T	c.(3211-3213)atC>atT	p.I1071I		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	1071	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CCGTGTGCATGATCTTCTTCC	0.562000													33	82					0	0	0.003755	0	0
MXRA5	25878	broad.mit.edu	37	X	3228225	3228225	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:3228225G>A	ENST00000217939.6	-	7	8173	c.8019C>T	c.(8017-8019)ctC>ctT	p.L2673L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2673	Ig-like C2-type 11.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGCCATTGGGGAGCGTCCAGG	0.602000													33	78					0	0	0.003755	0	0
HIPK4	147746	broad.mit.edu	37	19	40889927	40889927	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:40889927C>T	ENST00000291823.2	-	2	869	c.585G>A	c.(583-585)aaG>aaA	p.K195K		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	195	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			ACACGTCCACCTTCTCGCAGA	0.632000													21	28					0	0	0.002299	0	0
PNMA2	10687	broad.mit.edu	37	8	26365726	26365726	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:26365726C>T	ENST00000522362.2	-	3	1440	c.546G>A	c.(544-546)gaG>gaA	p.E182E		NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	182					apoptosis	nucleolus	protein binding	p.E182E(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		ccaaccagacctcaaaggact	0.582000													31	73					0	0	0.002096	0	0
AKAP6	9472	broad.mit.edu	37	14	33293838	33293838	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:33293838C>T	ENST00000280979.4	+	13	6989	c.6819C>T	c.(6817-6819)gcC>gcT	p.A2273A	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	2273					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CTGCTTCAGCCAAATCTAAAG	0.428000													17	50					0	0	0.004990	0	0
FBXW10	10517	broad.mit.edu	37	17	18659394	18659394	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:18659394G>A	ENST00000308799.4	+	5	1465	c.1246G>A	c.(1246-1248)Gaa>Aaa	p.E416K	FBXW10_ENST00000395667.1_Missense_Mutation_p.E387K|FBXW10_ENST00000301938.4_Missense_Mutation_p.E387K|FBXW10_ENST00000395665.4_Missense_Mutation_p.E387K			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	387										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						CCAGAACGAGGAAACGCAGCA	0.468000													10	26					0	0	0.001855	0	0
UGT2B10	7365	broad.mit.edu	37	4	69682277	69682277	+	Silent	SNP	A	A	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:69682277A>G	ENST00000265403.7	+	1	567	c.540A>G	c.(538-540)gaA>gaG	p.E180E	UGT2B10_ENST00000458688.2_Intron	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	180					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						ACTCATTTGAAAGGCACAGTG	0.408000													26	73					0	0	0.004656	0	0
NADK2	133686	broad.mit.edu	37	5	36241660	36241660	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:36241660C>T	ENST00000381937.4	-	1	240	c.241G>A	c.(241-243)Gag>Aag	p.E81K	NADK2_ENST00000282512.3_Intron|NADK2_ENST00000506945.1_Intron|NADK2_ENST00000514504.1_Missense_Mutation_p.E81K	NM_001085411.1	NP_001078880.1			NAD kinase 2, mitochondrial																		TGCTCGAACTCGTACCGGGTG	0.741000													3	9					0	0	0.004672	0	0
DPP3	10072	broad.mit.edu	37	11	66260348	66260348	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:66260348T>C	ENST00000532677.1	+	10	1608	c.1207T>C	c.(1207-1209)Tcc>Ccc	p.S403P	DPP3_ENST00000533799.1_3'UTR|DPP3_ENST00000541961.1_Missense_Mutation_p.S384P|DPP3_ENST00000531863.1_Missense_Mutation_p.S404P|DPP3_ENST00000360510.2_Missense_Mutation_p.S384P|DPP3_ENST00000453114.1_Missense_Mutation_p.S384P|DPP3_ENST00000530165.1_Missense_Mutation_p.S354P	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	384					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						CTTCGCTGGCTCCGGCATCCC	0.612000													25	40					0	0	0.002096	0	0
CTC-260E6.6	0	broad.mit.edu	37	19	20369815	20369815	+	RNA	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:20369815G>A	ENST00000593655.1	-	0	199																											GGGGGAGAGAGATTTGAAACA	0.398000													6	15					0	0	0.003080	0	0
DCAF4L1	285429	broad.mit.edu	37	4	41984415	41984415	+	Silent	SNP	A	A	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:41984415A>G	ENST00000333141.5	+	1	703	c.606A>G	c.(604-606)gcA>gcG	p.A202A		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	202										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						GCTTTAGTGCAGGCTTGTCTC	0.567000													52	96					0	0	0.003610	0	0
KCNH8	131096	broad.mit.edu	37	3	19575020	19575020	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:19575020C>T	ENST00000328405.2	+	16	3019	c.2753C>T	c.(2752-2754)tCc>tTc	p.S918F		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	918						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						GTGTGTCCCTCCAGGGAGAGC	0.522000													23	58					0	0	0.002299	0	0
SPTAN1	6709	broad.mit.edu	37	9	131346163	131346163	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:131346163C>T	ENST00000358161.5	+	16	2221	c.2108C>T	c.(2107-2109)tCg>tTg	p.S703L	SPTAN1_ENST00000372731.4_Missense_Mutation_p.S703L|SPTAN1_ENST00000372739.3_Missense_Mutation_p.S703L			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	703					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CACTTGGCTTCGGATGATTAC	0.448000													16	61					0	0	0.004007	0	0
TBC1D10B	26000	broad.mit.edu	37	16	30370638	30370638	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:30370638G>A	ENST00000409939.3	-	7	1577	c.1497C>T	c.(1495-1497)cgC>cgT	p.R499R		NM_015527.3	NP_056342.3	Q4KMP7	TB10B_HUMAN	TBC1 domain family, member 10B	499	Rab-GAP TBC.					cytoplasm	Rab GTPase activator activity			endometrium(2)|kidney(1)|lung(2)|urinary_tract(1)	6			Colorectal(24;0.193)			GGGAGGCCCGGCGCAGGAGTG	0.642000													3	4					0	0	0.004672	0	0
FAM90A1	55138	broad.mit.edu	37	12	8376706	8376706	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:8376706C>T	ENST00000538603.1	-	5	787	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K	FAM90A1_ENST00000307435.6_Missense_Mutation_p.E77K	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	77							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		TCCTTCCCTTCCTTTTCCCCA	0.552000													37	89					0	0	0.006999	0	0
TSIX	9383	broad.mit.edu	37	X	73048905	73048905	+	RNA	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:73048905C>T	ENST00000604411.1	+	0	36866				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						CAACTTACTTCATTCAGCTAT	0.453000													9	47					0	0	0.008291	0	0
CELSR3	1951	broad.mit.edu	37	3	48677415	48677415	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:48677415C>T	ENST00000544264.1	-	35	9898	c.9618G>A	c.(9616-9618)cgG>cgA	p.R3206R	CELSR3_ENST00000164024.4_Silent_p.R3201R			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	3201					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)		CCAGCTGCTCCCGAGAGTTCG	0.672000													17	41					0	0	0.004007	0	0
PCDH18	54510	broad.mit.edu	37	4	138452127	138452127	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:138452127C>T	ENST00000344876.4	-	1	1502	c.1116G>A	c.(1114-1116)ggG>ggA	p.G372G	PCDH18_ENST00000412923.2_Silent_p.G372G|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Silent_p.G152G	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	372	Cadherin 4.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CAATAGGATCCCCTTCAAAAA	0.348000													17	32					0	0	0.004990	0	0
SORL1	6653	broad.mit.edu	37	11	121348826	121348826	+	Splice_Site	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:121348826G>A	ENST00000260197.7	+	3	531		c.e3-1		SORL1_ENST00000532451.1_Splice_Site	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing						cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CTGTATTCCAGGTGTACGTGT	0.353000													23	22					0	0	0.005443	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125298602	125298602	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:125298602A>G	ENST00000538699.1	-	2	1386	c.1306T>C	c.(1306-1308)Tac>Cac	p.Y436H	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.Y436H	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	436										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GGCCAGTTGTAGCAGTGGGTG	0.587000													37	121					0	0	0.006230	0	0
SLC6A4	6532	broad.mit.edu	37	17	28539843	28539843	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:28539843G>A	ENST00000401766.2	-	8	1631	c.1119C>T	c.(1117-1119)ttC>ttT	p.F373F	SLC6A4_ENST00000261707.3_Silent_p.F373F			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	373					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	ATCCCGAAACGAAGCTCGTCA	0.547000													19	36					0	0	0.006122	0	0
ABCA6	23460	broad.mit.edu	37	17	67119506	67119506	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:67119506G>A	ENST00000284425.2	-	10	1484	c.1310C>T	c.(1309-1311)tCa>tTa	p.S437L		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	437					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ACAAGATGATGAATTCAAGAA	0.358000													16	22					0	0	0.004007	0	0
DHX38	9785	broad.mit.edu	37	16	72130759	72130759	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:72130759C>T	ENST00000268482.3	+	3	871	c.362C>T	c.(361-363)cCg>cTg	p.P121L	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	121					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				CCATCCCATCCGGGTGGTGTG	0.542000													54	176					0	0	0.003610	0	0
OR4K2	390431	broad.mit.edu	37	14	20344609	20344609	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:20344609C>T	ENST00000298642.2	+	1	219	c.183C>T	c.(181-183)ttC>ttT	p.F61F		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTATGTATTTCCTGCTTACCA	0.403000													49	96					0	0	0.003610	0	0
HNF1A	6927	broad.mit.edu	37	12	121416631	121416631	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:121416631G>A	ENST00000257555.6	+	1	286	c.60G>A	c.(58-60)ggG>ggA	p.G20G	HNF1A-AS1_ENST00000535301.1_RNA|HNF1A_ENST00000538626.1_Silent_p.G20G|HNF1A-AS1_ENST00000433033.2_RNA|HNF1A_ENST00000402929.1_Silent_p.G20G|HNF1A_ENST00000400024.2_Silent_p.G20G|HNF1A_ENST00000544413.1_Silent_p.G20G|HNF1A_ENST00000543427.1_Intron|HNF1A-AS1_ENST00000537361.1_RNA|HNF1A_ENST00000541395.1_Silent_p.G20G			P20823	HNF1A_HUMAN	HNF1 homeobox A	20	Dimerization.		G -> R (in MODY3; abolishes interaction with PCBD1 and DNA).		glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.L21fs*1(1)|p.?(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCGAGTCAGGGCTGAGCAAAG	0.692000									Hepatic Adenoma, Familial Clustering of				117	283					0	0	0.003610	0	0
FMN2	56776	broad.mit.edu	37	1	240370999	240370999	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:240370999G>A	ENST00000319653.9	+	5	3117	c.2887G>A	c.(2887-2889)Ggc>Agc	p.G963S		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	963	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TCCCGGGGCAGGCATACCCCT	0.697000													11	30					0	0	0.001855	0	0
SNX18	112574	broad.mit.edu	37	5	53839021	53839021	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:53839021A>G	ENST00000381410.4	+	2	1824	c.1634A>G	c.(1633-1635)aAa>aGa	p.K545R	SNX18_ENST00000343017.6_3'UTR	NM_001102575.1	NP_001096045.1	Q96RF0	SNX18_HUMAN	sorting nexin 18	0	BAR.				cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				GCTCTTACCAAAGTCAAGGAG	0.398000													11	22					0	0	0.000978	0	0
TXNRD2	10587	broad.mit.edu	37	22	19865655	19865655	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr22:19865655G>A	ENST00000400519.1	-	16	1399	c.1400C>T	c.(1399-1401)cCc>cTc	p.P467L	TXNRD2_ENST00000400521.1_Missense_Mutation_p.P468L|TXNRD2_ENST00000400525.1_Missense_Mutation_p.P445L|TXNRD2_ENST00000400518.1_Missense_Mutation_p.P438L|TXNRD2_ENST00000535882.1_Missense_Mutation_p.P467L|TXNRD2_ENST00000542719.1_Missense_Mutation_p.P438L			Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	468					cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					GCCTGCGTTGGGGCCAAGGAA	0.612000													11	28					0	0	0.008291	0	0
PARD3	56288	broad.mit.edu	37	10	34400111	34400111	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:34400111G>A	ENST00000374789.3	-	25	4382	c.4057C>T	c.(4057-4059)Ccc>Tcc	p.P1353S	PARD3_ENST00000374790.3_Missense_Mutation_p.P1293S|PARD3_ENST00000374794.3_Missense_Mutation_p.P1241S|PARD3_ENST00000545260.1_Missense_Mutation_p.P1263S|PARD3_ENST00000346874.4_Missense_Mutation_p.P1316S|PARD3_ENST00000545693.1_Missense_Mutation_p.P1337S|PARD3_ENST00000350537.4_Missense_Mutation_p.P1307S|PARD3_ENST00000374788.3_Missense_Mutation_p.P1350S	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	1353					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				GAATAGAAGGGCCTCCCTTTC	0.502000													21	59					0	0	0.001882	0	0
FLG2	388698	broad.mit.edu	37	1	152325811	152325811	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:152325811C>T	ENST00000388718.5	-	3	4523	c.4451G>A	c.(4450-4452)gGa>gAa	p.G1484E	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1484							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGGATTTTCCATGATGATA	0.517000													340	294					0	0	0.003610	0	0
C1orf65	164127	broad.mit.edu	37	1	223568625	223568625	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:223568625G>A	ENST00000366875.3	+	1	1911	c.1808G>A	c.(1807-1809)aGc>aAc	p.S603N		NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN	chromosome 1 open reading frame 65	603										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		CCTCCCAACAGCTCCCTTGAT	0.582000													11	67					0	0	0.008291	0	0
CCER1	196477	broad.mit.edu	37	12	91348214	91348214	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:91348214G>A	ENST00000358859.2	-	1	739	c.306C>T	c.(304-306)ttC>ttT	p.F102F	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1			coiled-coil glutamate-rich protein 1																		CCGGGCAGGGGAATTTCCAGA	0.642000													10	16					0	0	0.008291	0	0
C5orf42	65250	broad.mit.edu	37	5	37201714	37201714	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:37201714G>A	ENST00000274258.7	-	19	3716	c.129C>T	c.(127-129)ccC>ccT	p.P43P	C5orf42_ENST00000425232.2_Silent_p.P1162P|C5orf42_ENST00000508244.1_Silent_p.P1162P			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	1162										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TAGCTGGCTGGGGACAGTACA	0.348000													20	56					0	0	0.008871	0	0
CCDC106	29903	broad.mit.edu	37	19	56163871	56163871	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:56163871G>A	ENST00000586790.1	+	5	1506	c.602G>A	c.(601-603)cGg>cAg	p.R201Q	CCDC106_ENST00000588740.1_Missense_Mutation_p.R201Q|CCDC106_ENST00000591241.1_Missense_Mutation_p.R166Q|CCDC106_ENST00000308964.3_Missense_Mutation_p.R201Q|CCDC106_ENST00000591578.1_Missense_Mutation_p.R201Q			Q9BWC9	CC106_HUMAN	coiled-coil domain containing 106	201						nucleus				endometrium(2)|large_intestine(3)|lung(5)|skin(1)	11		Colorectal(82;0.00403)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		AGCATGTCGCGGGCCTTCGAG	0.667000													20	38					0	0	0.007413	0	0
SEMA3E	9723	broad.mit.edu	37	7	82997226	82997226	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:82997226G>A	ENST00000307792.3	-	17	2471	c.2004C>T	c.(2002-2004)atC>atT	p.I668I	SEMA3E_ENST00000427262.1_Silent_p.I608I	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	668	Ig-like C2-type.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				CCTCCAAGGTGATTTTACGGA	0.468000													31	57					0	0	0.009535	0	0
SPHKAP	80309	broad.mit.edu	37	2	228881890	228881890	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:228881890G>A	ENST00000392056.3	-	7	3726	c.3680C>T	c.(3679-3681)tCt>tTt	p.S1227F	SPHKAP_ENST00000344657.5_Missense_Mutation_p.S1227F	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1227						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GGATCGCAGAGAAGGAGACAG	0.557000													38	62					0	0	0.004878	0	0
FAM214A	56204	broad.mit.edu	37	15	52892394	52892394	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:52892394A>C	ENST00000261844.7	-	9	2731	c.2579T>G	c.(2578-2580)aTt>aGt	p.I860S	FAM214A_ENST00000546305.2_Missense_Mutation_p.I867S	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN	family with sequence similarity 214, member A	860																	TTTTTCATGAATATCTGGATC	0.318000													14	32					0	0	0.003163	0	0
CYP4X1	260293	broad.mit.edu	37	1	47498981	47498981	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:47498981C>T	ENST00000371901.3	+	4	683	c.433C>T	c.(433-435)Cat>Tat	p.H145Y	CYP4X1_ENST00000538609.1_Missense_Mutation_p.H144Y	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	145						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						TCCTGGATTCCATTTTAACAT	0.453000													13	34					0	0	0.001368	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44801181	44801181	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:44801181C>T	ENST00000309315.4	+	10	1497	c.1374C>T	c.(1372-1374)acC>acT	p.T458T	ZMIZ2_ENST00000441627.1_Silent_p.T458T|ZMIZ2_ENST00000265346.7_Silent_p.T432T|ZMIZ2_ENST00000433667.1_Silent_p.T426T|ZMIZ2_ENST00000413916.1_Silent_p.T400T	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	458	Interaction with AR.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TCTACAAGACCCTGATAATGA	0.617000													22	79					0	0	0.005443	0	0
PTPRT	11122	broad.mit.edu	37	20	41408889	41408889	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:41408889C>T	ENST00000373198.3	-	4	772	c.537G>A	c.(535-537)gtG>gtA	p.V179V	PTPRT_ENST00000373187.1_Silent_p.V179V|PTPRT_ENST00000373190.1_Silent_p.V179V|PTPRT_ENST00000356100.2_Silent_p.V179V|PTPRT_ENST00000373201.1_Silent_p.V179V|PTPRT_ENST00000373193.3_Silent_p.V179V|PTPRT_ENST00000373184.1_Silent_p.V179V	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	179	MAM.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGACCTCGTCCACGGCGATGT	0.522000													26	52					0	0	0.004656	0	0
ASTL	431705	broad.mit.edu	37	2	96798415	96798415	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:96798415G>A	ENST00000342380.2	-	6	500	c.501C>T	c.(499-501)tcC>tcT	p.S167S		NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN	astacin-like metallo-endopeptidase (M12 family)	167					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						TGGGCGCCAGGGAGACCACCT	0.647000													23	67					0	0	0.002299	0	0
PAK2	5062	broad.mit.edu	37	3	196533475	196533475	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:196533475C>T	ENST00000327134.3	+	6	816	c.494C>T	c.(493-495)cCc>cTc	p.P165L		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	165					axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		ACAGAAGCACCCGCAGTAGTG	0.488000													23	47					0	0	0.003954	0	0
OR4M1	441670	broad.mit.edu	37	14	20249039	20249039	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:20249039G>A	ENST00000315957.4	+	1	639	c.558G>A	c.(556-558)cgG>cgA	p.R186R		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGGTTGTCCGGATTGCCTGTG	0.453000													53	122					0	0	0.003610	0	0
SLC22A16	85413	broad.mit.edu	37	6	110746124	110746124	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:110746124C>T	ENST00000368919.3	-	8	1752	c.1686G>A	c.(1684-1686)ctG>ctA	p.L562L	SLC22A16_ENST00000330550.4_Silent_p.L528L	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	562					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		CCGTTTTTTCCAGCCCACTAT	0.443000													20	51					0	0	0.010504	0	0
ZFYVE20	64145	broad.mit.edu	37	3	15116339	15116339	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:15116339G>A	ENST00000253699.3	-	14	1918	c.1305C>T	c.(1303-1305)gcC>gcT	p.A435A	ZFYVE20_ENST00000476527.2_Silent_p.A435A	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	435	Necessary for the interaction with EHD1.|Necessary for the interaction with RAB4A.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						TTCTCAAGGGGGCAGGGCCCC	0.637000													19	51					0	0	0.008871	0	0
OR2H2	7932	broad.mit.edu	37	6	29556057	29556057	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:29556057C>T	ENST00000383640.2	+	1	375	c.336C>T	c.(334-336)ctC>ctT	p.L112L	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	112					defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						AGTGCATCCTCTTGACAGTGA	0.577000													34	114					0	0	0.004289	0	0
RHAG	6005	broad.mit.edu	37	6	49604372	49604372	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:49604372G>A	ENST00000371175.4	-	1	180	c.154C>T	c.(154-156)Cct>Tct	p.P52S	RHAG_ENST00000229810.7_Missense_Mutation_p.P52S	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	52					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					TACTCACGAGGATATAACTCA	0.368000													21	65					0	0	0.001882	0	0
SMARCA4	6597	broad.mit.edu	37	19	11123651	11123651	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:11123651C>T	ENST00000358026.2	+	16	2585	c.2301C>T	c.(2299-2301)tcC>tcT	p.S767S	SMARCA4_ENST00000589677.1_Silent_p.S767S|SMARCA4_ENST00000450717.3_Silent_p.S767S|SMARCA4_ENST00000590574.1_Silent_p.S767S|SMARCA4_ENST00000541122.2_Silent_p.S767S|SMARCA4_ENST00000429416.3_Silent_p.S767S|CTC-215O4.4_ENST00000587831.1_RNA|SMARCA4_ENST00000413806.3_Silent_p.S767S|SMARCA4_ENST00000344626.4_Silent_p.S767S|SMARCA4_ENST00000444061.3_Silent_p.S767S	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	767	Helicase ATP-binding.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GGCTGGTGTCCCTGTACAACA	0.592000			"""F, N, Mis"""		NSCLC								20	38					0	0	0.001882	0	0
EFCAB6	64800	broad.mit.edu	37	22	44127674	44127674	+	Missense_Mutation	SNP	T	T	C	rs150224112		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr22:44127674T>C	ENST00000262726.7	-	8	915	c.662A>G	c.(661-663)aAc>aGc	p.N221S	EFCAB6_ENST00000396231.2_Missense_Mutation_p.N69S|EFCAB6_ENST00000356087.4_Missense_Mutation_p.N115S|EFCAB6_ENST00000358439.4_Missense_Mutation_p.N115S	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	221					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)				CTTGTGGATGTTGTAGTGTTT	0.323000													9	19					0	0	0.004482	0	0
ZBTB18	10472	broad.mit.edu	37	1	244217611	244217611	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:244217611C>T	ENST00000358704.4	+	2	684	c.535C>T	c.(535-537)Ctg>Ttg	p.L179L		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1			zinc finger and BTB domain containing 18																		ATTGAACATCCTGCCCAGCAA	0.562000													15	90					0	0	0.007413	0	0
IRF2BP1	26145	broad.mit.edu	37	19	46387736	46387736	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:46387736G>A	ENST00000302165.3	-	1	1640	c.1297C>T	c.(1297-1299)Ctg>Ttg	p.L433L		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	433					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		GAGTGGCCCAGGGCTTCGGCC	0.731000													4	17					0	0	0.000602	0	0
FAM47C	442444	broad.mit.edu	37	X	37028054	37028054	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:37028054C>A	ENST00000358047.3	+	1	1623	c.1571C>A	c.(1570-1572)cCa>cAa	p.P524Q		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	524										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CATCTCCGCCCAGAGCCTCCC	0.607000													43	113					1.57945e-13	1.61319e-13	0.002852	1	0
TMPRSS11D	9407	broad.mit.edu	37	4	68708278	68708278	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:68708278C>T	ENST00000283916.6	-	4	413	c.315G>A	c.(313-315)ctG>ctA	p.L105L	TMPRSS11D_ENST00000509584.1_5'UTR|TMPRSS11D_ENST00000545541.1_5'UTR|RP11-453E17.1_ENST00000500538.2_RNA	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	105	SEA.				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						CCACTCACCTCAGTTTGGCAA	0.328000													11	30					0	0	0.001368	0	0
ZNF490	57474	broad.mit.edu	37	19	12692534	12692534	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:12692534G>A	ENST00000311437.6	-	5	477	c.355C>T	c.(355-357)Cct>Tct	p.P119S		NM_020714.2	NP_065765.1	Q9ULM2	ZN490_HUMAN	zinc finger protein 490	119	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						TCAACCATAGGACTTCTGTAA	0.323000													22	50					0	0	0.002299	0	0
CLEC4C	170482	broad.mit.edu	37	12	7883451	7883451	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:7883451G>A	ENST00000542353.1	-	6	929	c.439C>T	c.(439-441)Cca>Tca	p.P147S	CLEC4C_ENST00000360345.3_Missense_Mutation_p.P147S|CLEC4C_ENST00000540085.1_Missense_Mutation_p.P116S|CLEC4C_ENST00000354629.5_Missense_Mutation_p.P116S	NM_130441.2	NP_569708.1	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C	147	C-type lectin.				innate immune response	integral to membrane	sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		CGACCCCCTGGATCTGACAGC	0.443000													22	67					0	0	0.003954	0	0
THBS1	7057	broad.mit.edu	37	15	39885299	39885299	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:39885299G>A	ENST00000260356.5	+	18	3031	c.2866G>A	c.(2866-2868)Gat>Aat	p.D956N		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	956					activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CAGTGAGACCGATTTCCGCCG	0.502000													19	40					0	0	0.007413	0	0
PEAK1	79834	broad.mit.edu	37	15	77472206	77472206	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:77472206G>A	ENST00000560626.2	-	4	2538	c.2063C>T	c.(2062-2064)aCt>aTt	p.T688I	PEAK1_ENST00000558305.1_Missense_Mutation_p.T688I|PEAK1_ENST00000312493.4_Missense_Mutation_p.T688I			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	688					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										AAACCCTTTAGTTTGAAGACA	0.408000													44	140					0	0	0.002852	0	0
COL5A1	1289	broad.mit.edu	37	9	137676936	137676936	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:137676936G>A	ENST00000371817.3	+	30	3000	c.2586G>A	c.(2584-2586)ggG>ggA	p.G862G		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	862	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)		GACCCCCTGGGGAGAAGGTTT	0.657000													11	34					0	0	0.000978	0	0
PYGM	5837	broad.mit.edu	37	11	64519471	64519471	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:64519471C>T	ENST00000164139.3	-	14	2091	c.1693G>A	c.(1693-1695)Gac>Aac	p.D565N	PYGM_ENST00000462303.1_5'UTR|PYGM_ENST00000377432.3_Missense_Mutation_p.D477N	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	565					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding	p.D565N(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	ACCTGGATGTCGAAGAGTGAG	0.517000													36	46					0	0	0.004289	0	0
DGAT2L6	347516	broad.mit.edu	37	X	69420265	69420265	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:69420265G>A	ENST00000333026.3	+	4	528	c.428G>A	c.(427-429)aGg>aAg	p.R143K		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	143					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						ACCTTAGAAAGGATATTTTGG	0.413000													10	40					0	0	0.000978	0	0
TFEC	22797	broad.mit.edu	37	7	115580778	115580778	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:115580778C>T	ENST00000265440.7	-	8	1051	c.871G>A	c.(871-873)Gat>Aat	p.D291N	TFEC_ENST00000457268.1_Missense_Mutation_p.D224N|TFEC_ENST00000393485.1_3'UTR|TFEC_ENST00000320239.7_Missense_Mutation_p.D262N	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	291	Necessary for transcriptional transactivation.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	p.D291H(1)		NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			AATGATAAATCTGTGAAGTAT	0.433000													30	110					0	0	0.008361	0	0
PTGIR	5739	broad.mit.edu	37	19	47124880	47124880	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:47124880C>T	ENST00000291294.2	-	3	951	c.818G>A	c.(817-819)gGg>gAg	p.G273E	PTGIR_ENST00000594275.1_Missense_Mutation_p.G30E|PTGIR_ENST00000598865.1_Missense_Mutation_p.G61E|PTGIR_ENST00000597185.1_Missense_Mutation_p.G2E	NM_000960.3	NP_000951.1	P43119	PI2R_HUMAN	prostaglandin I2 (prostacyclin) receptor (IP)	273					cell-cell signaling|G-protein signaling, coupled to cyclic nucleotide second messenger|platelet activation	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929)	AAGGAGGTCCCCCATCTCACT	0.627000													23	39					0	0	0.003954	0	0
C17orf70	80233	broad.mit.edu	37	17	79508409	79508409	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:79508409C>T	ENST00000537152.1	-	8	2512	c.1987G>A	c.(1987-1989)Gag>Aag	p.E663K	C17orf70_ENST00000425898.2_Missense_Mutation_p.E463K|C17orf70_ENST00000327787.8_Missense_Mutation_p.E814K	NM_025161.5	NP_079437.5	Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	814					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			GTGGCCTGCTCTGTCACCATC	0.672000													16	36					0	0	0.007413	0	0
LMOD1	25802	broad.mit.edu	37	1	201868629	201868629	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:201868629C>T	ENST00000367288.4	-	2	1758	c.1512G>A	c.(1510-1512)gtG>gtA	p.V504V	RP11-307B6.3_ENST00000458139.1_RNA|RP11-307B6.3_ENST00000414927.1_RNA	NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	504					muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						AGCCCTTAGCCACGGCCCCGG	0.592000													19	53					0	0	0.007413	0	0
TRPM6	140803	broad.mit.edu	37	9	77339623	77339623	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:77339623G>A	ENST00000451710.3	-	38	6224	c.5987C>T	c.(5986-5988)tCc>tTc	p.S1996F	TRPM6_ENST00000449912.2_Missense_Mutation_p.S1987F|TRPM6_ENST00000376871.3_Missense_Mutation_p.S829F|TRPM6_ENST00000361255.3_Missense_Mutation_p.S1987F|TRPM6_ENST00000376872.3_Missense_Mutation_p.S947F|TRPM6_ENST00000360774.1_Missense_Mutation_p.S1992F			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1992					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TCCAAAGGTGGAATTTATCCT	0.403000													22	65					0	0	0.003330	0	0
C6orf222	389384	broad.mit.edu	37	6	36298397	36298397	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:36298397G>A	ENST00000437635.2	-	2	248	c.71C>T	c.(70-72)gCc>gTc	p.A24V		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	24										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						TTTCCCGGGGGCCTGCGGCCT	0.637000													50	32					0	0	0.003610	0	0
PLCB4	5332	broad.mit.edu	37	20	9391683	9391683	+	Splice_Site	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:9391683G>A	ENST00000378501.2	+	21	1978		c.e21-1		PLCB4_ENST00000278655.4_Splice_Site|PLCB4_ENST00000334005.3_Splice_Site|PLCB4_ENST00000414679.2_Splice_Site|PLCB4_ENST00000492632.1_Splice_Site|PLCB4_ENST00000378493.1_Splice_Site|PLCB4_ENST00000378473.3_Splice_Site	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4						intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TCTCTTGACAGATTTAGCGAT	0.378000													9	49					0	0	0.004482	0	0
WFDC10B	280664	broad.mit.edu	37	20	44314548	44314548	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:44314548C>T	ENST00000330523.5	-	3	314	c.84G>A	c.(82-84)agG>agA	p.R28R	WFDC10B_ENST00000335769.2_Intron	NM_172006.2	NP_742003.1	Q8IUB3	WF10B_HUMAN	WAP four-disulfide core domain 10B	28	WAP.					extracellular region	peptidase inhibitor activity			lung(2)|ovary(1)|stomach(1)	4		Myeloproliferative disorder(115;0.0122)				TACTCTGCATCCTCATCTTGT	0.572000													5	19					0	0	0.001168	0	0
XIRP2	129446	broad.mit.edu	37	2	168106365	168106365	+	Silent	SNP	A	A	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:168106365A>G	ENST00000409195.1	+	9	8552	c.8463A>G	c.(8461-8463)aaA>aaG	p.K2821K	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Silent_p.K2599K|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Silent_p.K2821K|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2646					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GTGAAGAAAAAAATCAGGGAC	0.408000													10	31					0	0	0.006214	0	0
DSP	1832	broad.mit.edu	37	6	7565712	7565712	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:7565712G>A	ENST00000379802.3	+	7	1239	c.898G>A	c.(898-900)Gac>Aac	p.D300N	DSP_ENST00000418664.2_Missense_Mutation_p.D300N	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	300	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CGACTGGAGCGACAAGAACAC	0.552000													9	32					0	0	0.004482	0	0
INHA	3623	broad.mit.edu	37	2	220440116	220440116	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:220440116G>A	ENST00000243786.2	+	2	1149	c.969G>A	c.(967-969)ggG>ggA	p.G323G		NM_002191.3	NP_002182.1	P05111	INHA_HUMAN	inhibin, alpha	323					cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development	inhibin A complex|inhibin-betaglycan-ActRII complex	cytokine activity|growth factor activity|hormone activity|signal transducer activity			large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		TGCTGCCAGGGGCCCAGCCCT	0.622000													65	133					0	0	0.003610	0	0
UGT1A1	54658	broad.mit.edu	37	2	234678180	234678180	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:234678180G>A	ENST00000360418.3	+	5	1308	c.1308G>A	c.(1306-1308)aaG>aaA	p.K436K	UGT1A1_ENST00000305208.5_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Silent_p.K433K|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000406651.1_Silent_p.K168K|UGT1A4_ENST00000373409.3_Intron|UGT1A5_ENST00000373414.3_Intron			P22309	UD11_HUMAN		436					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	CCTTTAGAAAGAAGCAGCAGT	0.512000													19	32					0	0	0.002299	0	0
CACNA1C	775	broad.mit.edu	37	12	2693743	2693743	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:2693743A>T	ENST00000399655.1	+	16	2564	c.2299A>T	c.(2299-2301)Aag>Tag	p.K767*	CACNA1C_ENST00000335762.5_Nonsense_Mutation_p.K792*|CACNA1C_ENST00000399595.1_Nonsense_Mutation_p.K767*|CACNA1C_ENST00000402845.3_Nonsense_Mutation_p.K767*|CACNA1C_ENST00000327702.7_Nonsense_Mutation_p.K767*|CACNA1C_ENST00000347598.4_Nonsense_Mutation_p.K767*|CACNA1C_ENST00000406454.3_Nonsense_Mutation_p.K767*|CACNA1C_ENST00000399629.1_Nonsense_Mutation_p.K767*|CACNA1C_ENST00000399591.1_Nonsense_Mutation_p.K767*|CACNA1C_ENST00000399644.1_Nonsense_Mutation_p.K767*|CACNA1C_ENST00000399617.1_Nonsense_Mutation_p.K767*|CACNA1C_ENST00000399638.1_Nonsense_Mutation_p.K767*|CACNA1C_ENST00000399621.1_Nonsense_Mutation_p.K767*|CACNA1C_ENST00000399597.1_Nonsense_Mutation_p.K767*|CACNA1C_ENST00000399641.1_Nonsense_Mutation_p.K767*|CACNA1C_ENST00000480911.1_Nonsense_Mutation_p.K767*|CACNA1C_ENST00000399634.1_Nonsense_Mutation_p.K767*|CACNA1C_ENST00000399649.1_Nonsense_Mutation_p.K767*|CACNA1C_ENST00000344100.3_Nonsense_Mutation_p.K767*|CACNA1C_ENST00000399603.1_Nonsense_Mutation_p.K767*|CACNA1C_ENST00000399606.1_Nonsense_Mutation_p.K767*|CACNA1C_ENST00000399637.1_Nonsense_Mutation_p.K767*|CACNA1C_ENST00000399601.1_Nonsense_Mutation_p.K767*	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	767					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	ATCTGCCCaaaaggaggagga	0.512000													14	50					0	0	0.003163	0	0
DIAPH1	1729	broad.mit.edu	37	5	140903738	140903738	+	Silent	SNP	T	T	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:140903738T>C	ENST00000253811.6	-	27	3776	c.3636A>G	c.(3634-3636)gcA>gcG	p.A1212A	DIAPH1_ENST00000389054.3_Silent_p.A1208A|DIAPH1_ENST00000398566.3_Silent_p.A1203A|DIAPH1_ENST00000518047.1_Silent_p.A1199A|DIAPH1_ENST00000520569.1_Silent_p.A1154A|DIAPH1_ENST00000398562.2_Silent_p.A1187A|DIAPH1_ENST00000389057.5_Silent_p.A1202A|DIAPH1_ENST00000398557.4_Silent_p.A1211A			O60610	DIAP1_HUMAN	diaphanous-related formin 1	1211	DAD.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCGTCGGAATGCTGCCCCTG	0.557000													39	73					0	0	0.006230	0	0
OR4A15	81328	broad.mit.edu	37	11	55135686	55135686	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:55135686G>A	ENST00000314706.3	+	1	327	c.327G>A	c.(325-327)atG>atA	p.M109I		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CTCCCAAAATGATTGTTGACT	0.418000													29	41					0	0	0.006320	0	0
USP29	57663	broad.mit.edu	37	19	57640381	57640381	+	Missense_Mutation	SNP	C	C	T	rs147501741	byFrequency	TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:57640381C>T	ENST00000254181.4	+	4	792	c.338C>T	c.(337-339)tCt>tTt	p.S113F	USP29_ENST00000598197.1_Missense_Mutation_p.S113F	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	113					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCCATGAAATCTGATGATGAT	0.353000													8	24					0	0	0.003080	0	0
PAQR4	124222	broad.mit.edu	37	16	3021895	3021895	+	Silent	SNP	C	C	T	rs138017941	byFrequency	TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:3021895C>T	ENST00000318782.8	+	3	1198	c.768C>T	c.(766-768)gcC>gcT	p.A256A	PAQR4_ENST00000576565.1_Silent_p.A189A|PAQR4_ENST00000572687.1_Silent_p.A182A|PAQR4_ENST00000574988.1_Silent_p.A189A|PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000293978.8_Silent_p.A217A	NM_152341.3	NP_689554.2	Q8N4S7	PAQR4_HUMAN	progestin and adipoQ receptor family member IV	256						integral to membrane	receptor activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						AGCTGCACGCCGGCGTCGTGC	0.672000													10	38					0	0	0.000978	0	0
CDK3	1018	broad.mit.edu	37	17	73998027	73998027	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:73998027C>T	ENST00000425876.2	+	2	277	c.189C>T	c.(187-189)atC>atT	p.I63I	TEN1-CDK3_ENST00000567351.1_RNA|CDK3_ENST00000448471.1_Silent_p.I63I			Q00526	CDK3_HUMAN	cyclin-dependent kinase 3	63	Protein kinase.				cell division|cell proliferation|mitosis		ATP binding|cyclin-dependent protein kinase activity			central_nervous_system(1)	1						ACCCCAACATCGTCCGGTGAG	0.597000													13	35					0	0	0.001368	0	0
FAM65C	140876	broad.mit.edu	37	20	49218800	49218800	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:49218800G>A	ENST00000327979.2	-	13	1867	c.1456C>T	c.(1456-1458)Cac>Tac	p.H486Y	FAM65C_ENST00000535356.1_Missense_Mutation_p.H490Y|FAM65C_ENST00000045083.2_Missense_Mutation_p.H486Y			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	486										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GTGCCGCTGTGGAACAGGGAG	0.682000													9	22					0	0	0.008291	0	0
ZDHHC8	29801	broad.mit.edu	37	22	20132776	20132776	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr22:20132776C>T	ENST00000334554.7	+	11	2292	c.2151C>T	c.(2149-2151)ccC>ccT	p.P717P	ZDHHC8_ENST00000320602.7_Silent_p.P625P|ZDHHC8_ENST00000405930.3_Intron	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	717						cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					TGAAGACTCCCCCAAGTAAGC	0.637000													61	164					0	0	0.003610	0	0
SEMA5A	9037	broad.mit.edu	37	5	9063110	9063110	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:9063110C>T	ENST00000382496.5	-	18	3072	c.2407G>A	c.(2407-2409)Ggc>Agc	p.G803S		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	803	TSP type-1 5.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TTCCGAATGCCCCTGCTGCAG	0.577000													20	42					0	0	0.002299	0	0
GRM8	2918	broad.mit.edu	37	7	126173578	126173578	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:126173578C>T	ENST00000339582.2	-	9	2666	c.1858G>A	c.(1858-1860)Gaa>Aaa	p.E620K	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.E620K|GRM8_ENST00000358373.3_Missense_Mutation_p.E620K			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	620					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.E620K(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TAACTAAGTTCGCGTCCTGAA	0.458000										HNSCC(24;0.065)			15	40					0	0	0.003163	0	0
DNAH7	56171	broad.mit.edu	37	2	196728872	196728872	+	Splice_Site	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:196728872C>T	ENST00000312428.6	-	41	7607		c.e41+1			NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7						ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CATGACAATACCTGAAACCAG	0.388000													13	20					0	0	0.001368	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159818928	159818928	+	RNA	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:159818928G>A	ENST00000497452.1	-	0	517																											GAGACCGGGTGGAGAATGAGG	0.478000													88	115					0	0	0.003610	0	0
SMARCA1	6594	broad.mit.edu	37	X	128614696	128614696	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:128614696C>T	ENST00000371122.4	-	19	2553	c.2424G>A	c.(2422-2424)cgG>cgA	p.R808R	SMARCA1_ENST00000371123.1_Silent_p.R796R|SMARCA1_ENST00000371121.3_Silent_p.R796R	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	808					ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						CTATTGTCTTCCGATAATAAA	0.323000													14	18					0	0	0.001855	0	0
DDX21	9188	broad.mit.edu	37	10	70737410	70737410	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:70737410C>T	ENST00000354185.4	+	12	1966	c.1868C>T	c.(1867-1869)tCc>tTc	p.S623F		NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	623						nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GGTGCCACGTCCGTAGACCAG	0.488000													25	73					0	0	0.005443	0	0
OR8J1	219477	broad.mit.edu	37	11	56127902	56127902	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:56127902C>T	ENST00000303039.3	+	1	212	c.180C>T	c.(178-180)taC>taT	p.Y60Y		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					CCCCCATGTACTTTTTCCTGC	0.448000													43	41					0	0	0.002852	0	0
UBBP4	23666	broad.mit.edu	37	17	21731246	21731246	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:21731246A>G	ENST00000584755.1	+	2	945	c.548A>G	c.(547-549)cAa>cGa	p.Q183R	UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Intron																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GCCAAGATCCAAGATAAAGAA	0.522000													19	53					0	0	0.002299	0	0
MALT1	10892	broad.mit.edu	37	18	56367809	56367809	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:56367809C>T	ENST00000348428.3	+	4	893	c.635C>T	c.(634-636)cCa>cTa	p.P212L	MALT1_ENST00000345724.3_Missense_Mutation_p.P212L|RP11-126O1.4_ENST00000588835.1_RNA	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	212	Ig-like C2-type 2.				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						TGCGACATCCCAGAGAGCTTC	0.373000			T	BIRC3	MALT								8	22					0	0	0.006214	0	0
SIRPG	55423	broad.mit.edu	37	20	1629967	1629967	+	Missense_Mutation	SNP	G	G	A	rs143978848	byFrequency	TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:1629967G>A	ENST00000381580.1	-	2	241	c.62C>T	c.(61-63)aCt>aTt	p.T21I	SIRPG_ENST00000303415.3_Missense_Mutation_p.T54I|SIRPG_ENST00000381583.2_Missense_Mutation_p.T54I|SIRPG_ENST00000216927.4_Missense_Mutation_p.T54I|SIRPG_ENST00000344103.4_Missense_Mutation_p.T54I			Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	54					blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						GGAGGTCACAGTGCAGTGCAG	0.542000													29	40					0	0	0.006320	0	0
TENM1	10178	broad.mit.edu	37	X	123587292	123587292	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:123587292C>T	ENST00000422452.2	-	23	4062	c.3999G>A	c.(3997-3999)atG>atA	p.M1333I	TENM1_ENST00000371130.3_Missense_Mutation_p.M1326I	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TTTTGCGAATCATAGTCCCAT	0.423000													29	51					0	0	0.006320	0	0
DST	667	broad.mit.edu	37	6	56400020	56400020	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:56400020G>A	ENST00000370754.5	-	63	16747	c.16748C>T	c.(16747-16749)tCc>tTc	p.S5583F	DST_ENST00000244364.6_Missense_Mutation_p.S2991F|DST_ENST00000421834.2_Missense_Mutation_p.S3317F|DST_ENST00000446842.2_Missense_Mutation_p.S5079F|DST_ENST00000361203.3_Missense_Mutation_p.S5403F|DST_ENST00000370788.2_Missense_Mutation_p.S3317F|DST_ENST00000340834.4_5'UTR|DST_ENST00000370769.4_Missense_Mutation_p.S5405F|DST_ENST00000312431.6_3'UTR			Q03001	DYST_HUMAN	dystonin	5403					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GCTGAGCAGGGACTCCAGGGC	0.557000													41	73					0	0	0.006999	0	0
SLC9C1	285335	broad.mit.edu	37	3	111996694	111996694	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:111996694G>A	ENST00000305815.5	-	5	584	c.332C>T	c.(331-333)tCa>tTa	p.S111L	SLC9C1_ENST00000487372.1_Missense_Mutation_p.S111L	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	111					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										GCCGGGAATTGAAATTAAAAG	0.303000													9	40					0	0	0.004482	0	0
MICALL2	79778	broad.mit.edu	37	7	1484998	1484998	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:1484998G>A	ENST00000297508.7	-	6	883	c.708C>T	c.(706-708)ttC>ttT	p.F236F	MICALL2_ENST00000405088.4_Intron	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	236	LIM zinc-binding.					cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		TGGTGCAGACGAAGGTGCCCG	0.677000													6	7					0	0	0.001984	0	0
NDOR1	27158	broad.mit.edu	37	9	140109371	140109371	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:140109371C>T	ENST00000371521.4	+	8	1049	c.966C>T	c.(964-966)ctC>ctT	p.L322L	NDOR1_ENST00000458322.2_Silent_p.L322L|NDOR1_ENST00000344894.5_Silent_p.L322L|NDOR1_ENST00000427047.2_Silent_p.L288L	NM_001144026.1	NP_001137498.1	Q9UHB4	NDOR1_HUMAN	NADPH dependent diflavin oxidoreductase 1	322	FAD-binding FR-type.				cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding			breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GTCTATCCCTCCATGAGCTGG	0.632000													21	59					0	0	0.002780	0	0
SOX30	11063	broad.mit.edu	37	5	157078397	157078397	+	Silent	SNP	G	G	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:157078397G>C	ENST00000265007.6	-	1	1031	c.690C>G	c.(688-690)ccC>ccG	p.P230P	SOX30_ENST00000311371.5_Silent_p.P230P|SOX30_ENST00000519442.1_Intron	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	230					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CATTGGACGCGGGCTCCGCGC	0.642000													20	74					0	0	0.008871	0	0
SLC26A9	115019	broad.mit.edu	37	1	205890904	205890904	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:205890904G>A	ENST00000367135.3	-	17	1958	c.1845C>T	c.(1843-1845)acC>acT	p.T615T	SLC26A9_ENST00000367134.2_Silent_p.T615T|SLC26A9_ENST00000340781.4_Silent_p.T615T	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	615	STAS.					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			CGTTAGCCGGGGTCTGGTTGT	0.647000													3	9					0	0	0.004672	0	0
DNAH1	25981	broad.mit.edu	37	3	52404799	52404799	+	Silent	SNP	T	T	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:52404799T>C	ENST00000420323.2	+	41	6744	c.6483T>C	c.(6481-6483)agT>agC	p.S2161S		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2161					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CGGGCATCAGTGGCACCAACG	0.612000													5	11					0	0	0.001984	0	0
FAT4	79633	broad.mit.edu	37	4	126373565	126373565	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:126373565G>A	ENST00000394329.3	+	9	11407	c.11394G>A	c.(11392-11394)gtG>gtA	p.V3798V	FAT4_ENST00000335110.5_Silent_p.V2096V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3798					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GAGTAAAGGTGGAATCTGTGG	0.483000													13	31					0	0	0.002450	0	0
TTC21B	79809	broad.mit.edu	37	2	166806199	166806199	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:166806199G>A	ENST00000243344.7	-	2	194	c.57C>T	c.(55-57)ttC>ttT	p.F19F	AC010127.5_ENST00000440322.1_RNA	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	19						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						ATACATGATGGAAATATCTCT	0.343000													19	37					0	0	0.006122	0	0
FFAR1	2864	broad.mit.edu	37	19	35842971	35842971	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:35842971G>A	ENST00000246553.2	+	1	527	c.517G>A	c.(517-519)Gcc>Acc	p.A173T		NM_005303.2	NP_005294.1	O14842	FFAR1_HUMAN	free fatty acid receptor 1	173					energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity|lipid binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		Icosapent(DB00159)	CTGCCTGGAGGCCTGGGACCC	0.647000													14	30					0	0	0.003163	0	0
ZNF598	90850	broad.mit.edu	37	16	2050130	2050130	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:2050130G>A	ENST00000563630.1	-	9	1497	c.1255C>T	c.(1255-1257)Cct>Tct	p.P419S	ZNF598_ENST00000562103.1_Missense_Mutation_p.P419S|ZNF598_ENST00000431526.1_Missense_Mutation_p.P474S			Q86UK7	ZN598_HUMAN	zinc finger protein 598	474						intracellular	zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						CCTCTGGCAGGGATGGCGTAC	0.677000													23	24					0	0	0.003330	0	0
ZZZ3	26009	broad.mit.edu	37	1	78034136	78034136	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:78034136G>A	ENST00000370801.3	-	13	2822	c.2347C>T	c.(2347-2349)Cct>Tct	p.P783S	ZZZ3_ENST00000370798.1_Missense_Mutation_p.P289S|ZZZ3_ENST00000476275.1_5'UTR	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	783					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						TACATGATAGGAATACTTTCG	0.259000													9	15					0	0	0.004482	0	0
SLC9A6	10479	broad.mit.edu	37	X	135080653	135080653	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:135080653C>T	ENST00000370695.4	+	4	651	c.616C>T	c.(616-618)Cga>Tga	p.R206*	SLC9A6_ENST00000370698.3_Nonsense_Mutation_p.R174*|SLC9A6_ENST00000370701.1_Nonsense_Mutation_p.R154*	NM_001042537.1	NP_001036002.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	174					regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					ACATTTTTTTCGAAATCTTGG	0.313000													19	40					0	0	0.007413	0	0
GGT3P	2679	broad.mit.edu	37	22	18778612	18778612	+	RNA	SNP	C	C	T	rs1055042	by1000genomes	TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr22:18778612C>T	ENST00000412448.1	-	0	793																											GCGGCCACGGCAGCCCTGGTG	0.637000													5	18					0	0	0.003080	0	0
ZBBX	79740	broad.mit.edu	37	3	166960300	166960300	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:166960300C>T	ENST00000392766.2	-	20	2609	c.2269G>A	c.(2269-2271)Gaa>Aaa	p.E757K	ZBBX_ENST00000455345.2_Missense_Mutation_p.E796K|ZBBX_ENST00000392764.1_Missense_Mutation_p.E728K|ZBBX_ENST00000392767.2_Missense_Mutation_p.E757K|ZBBX_ENST00000307529.5_Missense_Mutation_p.E796K	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	757						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TACCTCAATTCCTCAACTCCA	0.353000													37	39					0	0	0.006999	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83372093	83372093	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:83372093G>A	ENST00000262752.2	-	11	931	c.924C>T	c.(922-924)ttC>ttT	p.F308F	RPS6KA6_ENST00000543399.1_Silent_p.F308F	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	308	Protein kinase 1.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						GATTCCTTTTGAATAACATCC	0.313000													10	37					0	0	0.001368	0	0
ZNF512B	57473	broad.mit.edu	37	20	62598119	62598119	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:62598119G>A	ENST00000450537.1	-	5	469	c.409C>T	c.(409-411)Cgc>Tgc	p.R137C	ZNF512B_ENST00000217130.3_Missense_Mutation_p.R137C|ZNF512B_ENST00000369888.1_Missense_Mutation_p.R137C			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	137					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					AAGGCCAGGCGATCTGAGATG	0.652000													15	24					0	0	0.002450	0	0
OR5H2	79310	broad.mit.edu	37	3	98002453	98002453	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:98002453A>T	ENST00000355273.2	+	1	722	c.722A>T	c.(721-723)aAa>aTa	p.K241I	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						GGCGTAAGGAAAGCCTTTTCC	0.413000													44	37					0	0	0.009718	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117431241	117431241	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:117431241G>A	ENST00000160373.3	-	4	2100	c.2009C>T	c.(2008-2010)cCc>cTc	p.P670L		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	670										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GGCACTAACGGGGTTTATGGA	0.498000													29	102					0	0	0.008361	0	0
TRHDE	29953	broad.mit.edu	37	12	72936102	72936102	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:72936102T>A	ENST00000261180.4	+	7	1715	c.1619T>A	c.(1618-1620)tTt>tAt	p.F540Y		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	540					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CTGGCTAATTTTATGGGCCAT	0.303000													10	26					0	0	0.001368	0	0
IRF2BP1	26145	broad.mit.edu	37	19	46387737	46387737	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:46387737G>A	ENST00000302165.3	-	1	1639	c.1296C>T	c.(1294-1296)gcC>gcT	p.A432A		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	432					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		AGTGGCCCAGGGCTTCGGCCA	0.731000													4	18					0	0	0.000602	0	0
MAGEA6	4105	broad.mit.edu	37	X	151869895	151869895	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:151869895C>T	ENST00000329342.5	+	3	810	c.585C>T	c.(583-585)atC>atT	p.I195I		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	195	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					ACAATCAGATCATGCCCAAGA	0.552000													56	148					0	0	0.003610	0	0
CYP4B1	1580	broad.mit.edu	37	1	47282773	47282773	+	Missense_Mutation	SNP	G	G	T	rs144321901		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:47282773G>T	ENST00000271153.4	+	9	1160	c.1124G>T	c.(1123-1125)cGc>cTc	p.R375L	CYP4B1_ENST00000452782.2_Missense_Mutation_p.R213L|CYP4B1_ENST00000371919.4_Missense_Mutation_p.R361L|CYP4B1_ENST00000371923.4_Missense_Mutation_p.R376L			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	375			R -> C (in allele CYP4B1*2; dbSNP:rs2297809).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					GAGAGCTTCCGCCTCTACCCA	0.552000													30	76					3.99451e-17	4.09147e-17	0.009535	1	0
MMP10	4319	broad.mit.edu	37	11	102650040	102650040	+	Missense_Mutation	SNP	C	C	T	rs142065601		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:102650040C>T	ENST00000279441.4	-	3	436	c.400G>A	c.(400-402)Gag>Aag	p.E134K		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	134					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		AGAGCTTTCTCAATGGCAGAA	0.408000													33	47					0	0	0.005524	0	0
LEP	3952	broad.mit.edu	37	7	127894587	127894587	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:127894587G>A	ENST00000308868.4	+	3	326	c.275G>A	c.(274-276)aGa>aAa	p.R92K		NM_000230.2	NP_000221.1	P41159	LEP_HUMAN	leptin	92					adult feeding behavior|energy reserve metabolic process|negative regulation of appetite|placenta development|positive regulation of developmental growth	extracellular space				endometrium(1)|large_intestine(2)|lung(5)	8						ATGCCTTCCAGAAACGTGATC	0.547000													34	108					0	0	0.004289	0	0
ST6GALNAC6	30815	broad.mit.edu	37	9	130656950	130656950	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:130656950G>A	ENST00000373146.1	-	4	317	c.138C>T	c.(136-138)ttC>ttT	p.F46F	ST6GALNAC6_ENST00000373144.3_Silent_p.F12F|ST6GALNAC6_ENST00000373142.1_Silent_p.F46F|ST6GALNAC6_ENST00000291839.5_Silent_p.F46F|ST6GALNAC6_ENST00000373141.1_Silent_p.F12F|ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000542456.1_5'UTR			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	46					protein glycosylation	integral to Golgi membrane|plasma membrane				endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						AGAGGATCACGAACACTGCTG	0.632000													32	69					0	0	0.002096	0	0
MEGF10	84466	broad.mit.edu	37	5	126792946	126792946	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:126792946C>T	ENST00000274473.6	+	26	3626	c.3359C>T	c.(3358-3360)tCa>tTa	p.S1120L	MEGF10_ENST00000503335.2_Missense_Mutation_p.S1120L	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	1120	Necessary for formation of large intracellular vacuoles.|Ser-rich.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CGAGACAGTTCATCCTCCCCT	0.522000													27	62					0	0	0.009535	0	0
BCOR	54880	broad.mit.edu	37	X	39930940	39930940	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:39930940C>T	ENST00000342274.4	-	5	3363	c.3001G>A	c.(3001-3003)Gaa>Aaa	p.E1001K	BCOR_ENST00000378444.4_Missense_Mutation_p.E1001K|BCOR_ENST00000397354.3_Missense_Mutation_p.E1001K|BCOR_ENST00000378455.4_Intron	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1001					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TGTAATCCTTCCATCTATGTA	0.303000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						10	26					0	0	0.000978	0	0
LIG1	3978	broad.mit.edu	37	19	48660362	48660362	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:48660362G>A	ENST00000263274.7	-	5	698	c.279C>T	c.(277-279)ccC>ccT	p.P93P	LIG1_ENST00000599165.1_Intron|LIG1_ENST00000536218.1_Silent_p.P93P|LIG1_ENST00000427526.2_Silent_p.P63P	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	93					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	TGGCAGGACGGGGCGGGGAGA	0.562000								Nucleotide excision repair (NER)					48	101					0	0	0.003610	0	0
HERC2P9	440248	broad.mit.edu	37	15	28929412	28929412	+	RNA	SNP	A	A	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:28929412A>G	ENST00000528584.1	+	0	1949					NR_036443.1																						GTTGTTGTGGAAATTCAATTT	0.478000													5	31					0	0	0.001168	0	0
RAB7L1	8934	broad.mit.edu	37	1	205739572	205739572	+	Silent	SNP	A	A	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:205739572A>G	ENST00000367139.3	-	6	813	c.510T>C	c.(508-510)atT>atC	p.I170I	RAB7L1_ENST00000468887.1_5'UTR|RAB7L1_ENST00000414729.1_Silent_p.I170I|RAB7L1_ENST00000437324.2_Silent_p.I98I|RAB7L1_ENST00000235932.4_Silent_p.I170I|RAB7L1_ENST00000446390.2_Silent_p.I146I	NM_003929.2	NP_003920.1	O14966	RAB7L_HUMAN	RAB7, member RAS oncogene family-like 1	170					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	10	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			TCATCTTTTCAATGAGGACTC	0.408000													9	12					0	0	0.008291	0	0
AKR1C3	8644	broad.mit.edu	37	10	5141520	5141520	+	Splice_Site	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:5141520C>T	ENST00000380554.3	+	5	1101	c.447_splice	c.e5-1	p.A150_splice	AKR1C3_ENST00000605149.1_Splice_Site_p.A127_splice|AKR1C3_ENST00000439082.2_Splice_Site_p.A31_splice	NM_001253908.1|NM_003739.5	NP_001240837.1|NP_003730.4	P42330	AK1C3_HUMAN	aldo-keto reductase family 1, member C3	150					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	TCTCCACAGGCCATGGAGAAG	0.478000													14	30					0	0	0.003163	0	0
OR4L1	122742	broad.mit.edu	37	14	20528394	20528394	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:20528394G>A	ENST00000315683.1	+	1	191	c.191G>A	c.(190-192)gGa>gAa	p.G64E		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TTTCTCCTTGGAAATCTCTCT	0.458000													18	83					0	0	0.008871	0	0
PCID2	55795	broad.mit.edu	37	13	113838775	113838775	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr13:113838775G>A	ENST00000375457.2	-	9	1160	c.564C>T	c.(562-564)ccC>ccT	p.P188P	PCID2_ENST00000375477.1_Silent_p.P190P|PCID2_ENST00000246505.5_Silent_p.P244P|PCID2_ENST00000493650.1_5'UTR|PCID2_ENST00000375479.2_Silent_p.P190P|PCID2_ENST00000337344.4_Silent_p.P190P|PCID2_ENST00000375459.1_Silent_p.P188P|PCID2_ENST00000351317.3_Silent_p.P167P	NM_001258213.1	NP_001245142.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	190					negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			CTCTAATTAGGGGTTTACATA	0.338000													8	20					0	0	0.003080	0	0
LILRB5	10990	broad.mit.edu	37	19	54759940	54759940	+	Silent	SNP	C	C	T	rs144716655		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:54759940C>T	ENST00000450632.1	-	4	671	c.594G>A	c.(592-594)tcG>tcA	p.S198S	LILRB5_ENST00000449561.2_Silent_p.S207S|LILRB5_ENST00000316219.5_Silent_p.S207S|LILRB5_ENST00000345866.6_Intron			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	207	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CACTGGGGTTCGACCACACCT	0.522000													38	66					0	0	0.006999	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857975	9857975	+	Silent	SNP	G	G	A	rs150487431		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:9857975G>A	ENST00000396573.2	-	14	3735	c.3426C>T	c.(3424-3426)ccC>ccT	p.P1142P	GRIN2A_ENST00000330684.3_Silent_p.P1142P|GRIN2A_ENST00000562109.1_Silent_p.P1142P|GRIN2A_ENST00000396575.2_Silent_p.P1142P|GRIN2A_ENST00000404927.2_Silent_p.P1142P|GRIN2A_ENST00000535259.1_Silent_p.P985P	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1142					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCACGTTCTCGGGCAGGGTCA	0.522000													30	93					0	0	0.002096	0	0
GIMAP5	55340	broad.mit.edu	37	7	150439501	150439501	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:150439501G>A	ENST00000358647.3	+	3	641	c.274G>A	c.(274-276)Gat>Aat	p.D92N	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2			GTPase, IMAP family member 5											central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTCACAGGCCGATACCCAAGA	0.597000													21	89					0	0	0.001882	0	0
CNGA4	1262	broad.mit.edu	37	11	6261650	6261650	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:6261650C>T	ENST00000379936.2	+	4	741	c.626C>T	c.(625-627)cCt>cTt	p.P209L	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	209					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCGCGCAGCCTGGCTTTGAG	0.582000													37	66					0	0	0.007835	0	0
BEND5	79656	broad.mit.edu	37	1	49208377	49208377	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:49208377G>A	ENST00000371833.3	-	4	898	c.812C>T	c.(811-813)aCt>aTt	p.T271I	AGBL4_ENST00000371838.1_Intron|AGBL4_ENST00000371839.1_Intron|BEND5_ENST00000476096.1_Intron	NM_024603.2	NP_078879.2	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	271										large_intestine(5)|lung(2)|skin(1)	8						CTCACTGAAAGTGCTCCGTAA	0.468000													32	69					0	0	0.009535	0	0
SALL1	6299	broad.mit.edu	37	16	51174183	51174183	+	Silent	SNP	G	G	A	rs138705495	byFrequency	TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:51174183G>A	ENST00000440970.1	-	2	2090	c.1659C>T	c.(1657-1659)ggC>ggT	p.G553G	SALL1_ENST00000251020.4_Silent_p.G650G|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	650					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TGCCCGCGGGGCCGCAGTCTG	0.622000													16	42					0	0	0.004007	0	0
DHX38	9785	broad.mit.edu	37	16	72138394	72138394	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:72138394C>T	ENST00000268482.3	+	15	2529	c.2020C>T	c.(2020-2022)Cgg>Tgg	p.R674W	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	674	Helicase ATP-binding.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				GGTAGTGGCTCGGCGCTCAGA	0.607000													16	18					0	0	0.004007	0	0
ZSCAN4	201516	broad.mit.edu	37	19	58189737	58189737	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:58189737G>A	ENST00000318203.5	+	5	1463	c.766G>A	c.(766-768)Ggg>Agg	p.G256R		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	256					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATCTCAGGAAGGGTCCATAAA	0.512000													10	45					0	0	0.008291	0	0
CHL1	10752	broad.mit.edu	37	3	391095	391095	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:391095G>A	ENST00000256509.2	+	10	1544	c.902G>A	c.(901-903)aGa>aAa	p.R301K	CHL1_ENST00000397491.2_Missense_Mutation_p.R285K	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	285	Ig-like C2-type 3.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CCAAAGGGGAGAGAAACAAAA	0.373000													18	18					0	0	0.004990	0	0
MFSD8	256471	broad.mit.edu	37	4	128864936	128864936	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:128864936A>G	ENST00000296468.3	-	5	537	c.410T>C	c.(409-411)gTt>gCt	p.V137A	MFSD8_ENST00000541133.1_Missense_Mutation_p.V92A|MFSD8_ENST00000513559.1_Missense_Mutation_p.V92A|MFSD8_ENST00000515130.1_5'UTR	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	137					cell death|transmembrane transport	integral to membrane|lysosomal membrane				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						TCCACGAGCAACCAGCATGTA	0.408000													8	25					0	0	0.004482	0	0
NEK11	79858	broad.mit.edu	37	3	130748605	130748605	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:130748605C>T	ENST00000383366.4	+	3	346	c.53C>T	c.(52-54)tCc>tTc	p.S18F	NEK11_ENST00000507910.1_Missense_Mutation_p.S18F|NEK11_ENST00000356918.4_Missense_Mutation_p.S18F|NEK11_ENST00000429253.2_Missense_Mutation_p.S18F|NEK11_ENST00000412440.2_5'UTR|NEK11_ENST00000508196.1_Missense_Mutation_p.S18F|NEK11_ENST00000511262.1_Missense_Mutation_p.S18F|NEK11_ENST00000510769.1_Missense_Mutation_p.S18F|NEK11_ENST00000510688.1_Missense_Mutation_p.S18F	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11	18					cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						ACAGCCATTTCCACTTATCCA	0.403000													24	39					0	0	0.003330	0	0
GPR111	222611	broad.mit.edu	37	6	47649895	47649895	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:47649895T>A	ENST00000398742.2	+	5	1445	c.1396T>A	c.(1396-1398)Ttc>Atc	p.F466I	GPR111_ENST00000296862.1_Missense_Mutation_p.F534I|GPR111_ENST00000507065.1_Missense_Mutation_p.F466I			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	534					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						TTCTGTATTTTTCTGGATGCT	0.443000													12	35					0	0	0.000978	0	0
MSL3	10943	broad.mit.edu	37	X	11790756	11790756	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:11790756C>T	ENST00000380693.3	+	11	1537	c.900C>T	c.(898-900)atC>atT	p.I300I	MSL3_ENST00000312196.4_Silent_p.I466I|MSL3_ENST00000398527.2_Silent_p.I454I|MSL3_ENST00000361672.2_Silent_p.I317I	NM_006800.3	NP_006791.2	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)	466					histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						TTCCAGAAATCCTTGGAAAGA	0.363000													10	39					0	0	0.001368	0	0
CNTN5	53942	broad.mit.edu	37	11	100169958	100169958	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:100169958G>A	ENST00000524871.1	+	20	2740	c.2450G>A	c.(2449-2451)gGa>gAa	p.G817E	CNTN5_ENST00000279463.3_Missense_Mutation_p.G817E|CNTN5_ENST00000527185.1_Missense_Mutation_p.G817E|CNTN5_ENST00000418526.2_Missense_Mutation_p.G743E|CNTN5_ENST00000528682.1_Missense_Mutation_p.G817E|CNTN5_ENST00000524560.1_3'UTR	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	817	Fibronectin type-III 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AGACCCAATGGAACACGTGGC	0.393000													8	10					0	0	0.003080	0	0
RGPD2	729857	broad.mit.edu	37	2	88125213	88125213	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:88125213G>A	ENST00000398146.3	-	1	258	c.36C>T	c.(34-36)ctC>ctT	p.L12L	RGPD2_ENST00000327544.6_5'UTR|RGPD2_ENST00000420840.2_Intron			Q68DN6	RGPD1_HUMAN	RANBP2-like and GRIP domain containing 2	0					intracellular transport		binding			breast(1)|pancreas(1)	2						GCACCGAGGCGAGGTACCGCT	0.701000													5	7					0	0	0.001984	0	0
HNRNPCL1	343069	broad.mit.edu	37	1	12907865	12907865	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:12907865C>T	ENST00000317869.6	-	2	503	c.278G>A	c.(277-279)gGa>gAa	p.G93E		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						ACCTGCGTTTCCTCGGTTCAC	0.483000													19	109					0	0	0.001882	0	0
ELSPBP1	64100	broad.mit.edu	37	19	48511977	48511977	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:48511977C>T	ENST00000339841.2	+	2	231	c.53C>T	c.(52-54)tCc>tTc	p.S18F	ELSPBP1_ENST00000597519.1_Missense_Mutation_p.S18F	NM_022142.4	NP_071425.3	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1	18					single fertilization	extracellular region				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		CTTCTCTATTCCTATGAGTCA	0.453000													5	11					0	0	0.001984	0	0
CYP8B1	1582	broad.mit.edu	37	3	42916467	42916467	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:42916467C>T	ENST00000316161.4	-	1	1166	c.842G>A	c.(841-843)tGg>tAg	p.W281*	ACKR2_ENST00000471537.1_Intron|KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Nonsense_Mutation_p.W281*	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	281					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		CTGGGAGGCCCAGAGCATCAT	0.577000													10	21					0	0	0.006214	0	0
ANO4	121601	broad.mit.edu	37	12	101381320	101381320	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:101381320C>T	ENST00000392979.3	+	7	862	c.501C>T	c.(499-501)atC>atT	p.I167I	ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392977.3_Silent_p.I202I|ANO4_ENST00000538618.1_3'UTR	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	202						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						ACCACAGGATCGATAAACAAA	0.498000										HNSCC(74;0.22)	OREG0022059	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	128	274					0	0	0.003610	0	0
NCOR2	9612	broad.mit.edu	37	12	124824947	124824947	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:124824947G>A	ENST00000356219.3	-	37	5557	c.5402C>T	c.(5401-5403)tCc>tTc	p.S1801F	NCOR2_ENST00000404121.2_Missense_Mutation_p.S1355F|NCOR2_ENST00000429285.2_Missense_Mutation_p.S1784F|NCOR2_ENST00000405201.1_Missense_Mutation_p.S1794F|NCOR2_ENST00000404621.1_Missense_Mutation_p.S1784F|NCOR2_ENST00000397355.1_Missense_Mutation_p.S1785F	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1802					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CTCCCGCTCGGACGAGGACGT	0.622000													12	20					0	0	0.000978	0	0
KLRK1	22914	broad.mit.edu	37	12	10532318	10532318	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:10532318C>T	ENST00000240618.6	-	4	362	c.222G>A	c.(220-222)tgG>tgA	p.W74*	RP11-277P12.20_ENST00000500682.1_RNA|KLRC4-KLRK1_ENST00000539300.1_3'UTR|KLRK1_ENST00000540818.1_Nonsense_Mutation_p.W74*	NM_001199805.1|NM_007360.3	NP_001186734.1|NP_031386.2	P26718	NKG2D_HUMAN	killer cell lectin-like receptor subfamily K, member 1	74					natural killer cell activation|T cell costimulation	integral to plasma membrane	sugar binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)	9						ATACAGCACTCCATATTGTTA	0.338000													9	31					0	0	0.008291	0	0
EDDM3A	10876	broad.mit.edu	37	14	21216051	21216051	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:21216051G>A	ENST00000326842.2	+	2	439	c.312G>A	c.(310-312)gaG>gaA	p.E104E		NM_006683.4	NP_006674.2	Q14507	EP3A_HUMAN	epididymal protein 3A	104					sperm displacement	extracellular space				breast(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						AAGTACTCGAGTGTCACTGGG	0.448000													9	26					0	0	0.006214	0	0
TNC	3371	broad.mit.edu	37	9	117845000	117845000	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:117845000C>T	ENST00000350763.4	-	5	2629	c.2218G>A	c.(2218-2220)Gaa>Aaa	p.E740K	TNC_ENST00000535648.1_Missense_Mutation_p.E740K|TNC_ENST00000341037.4_Missense_Mutation_p.E740K|TNC_ENST00000542877.1_Missense_Mutation_p.E740K|TNC_ENST00000345230.3_Missense_Mutation_p.E740K|TNC_ENST00000423613.2_Missense_Mutation_p.E740K|TNC_ENST00000346706.3_Missense_Mutation_p.E740K|TNC_ENST00000537320.1_Missense_Mutation_p.E740K|TNC_ENST00000340094.3_Missense_Mutation_p.E740K	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	740	Fibronectin type-III 2.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TCCCAGGTTTCAAAAGCAATG	0.433000													23	41					0	0	0.004656	0	0
CLCN5	1184	broad.mit.edu	37	X	49855482	49855482	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:49855482G>A	ENST00000376088.3	+	14	2940	c.2299G>A	c.(2299-2301)Gag>Aag	p.E767K	CLCN5_ENST00000376091.3_Missense_Mutation_p.E767K|CLCN5_ENST00000307367.2_Missense_Mutation_p.E697K|CLCN5_ENST00000376108.3_Missense_Mutation_p.E697K	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	697					excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					TACACCCATGGAGATCGTAGT	0.502000													16	43					0	0	0.007413	0	0
DHX38	9785	broad.mit.edu	37	16	72130758	72130758	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:72130758C>T	ENST00000268482.3	+	3	870	c.361C>T	c.(361-363)Ccg>Tcg	p.P121S	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	121					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				TCCATCCCATCCGGGTGGTGT	0.537000													53	177					0	0	0.003610	0	0
CACNG3	10368	broad.mit.edu	37	16	24372881	24372881	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:24372881C>T	ENST00000005284.3	+	4	1847	c.645C>T	c.(643-645)ttC>ttT	p.F215F		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	215					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		ACTCGGAGTTCCTGAAGAAAT	0.522000													16	49					0	0	0.004007	0	0
MYO18B	84700	broad.mit.edu	37	22	26400779	26400779	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr22:26400779C>T	ENST00000335473.7	+	42	6678	c.6428C>T	c.(6427-6429)cCt>cTt	p.P2143L	MYO18B_ENST00000407587.2_Missense_Mutation_p.P2144L|MYO18B_ENST00000536101.1_Missense_Mutation_p.P2143L	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2143						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						ATGAGGACTCCTTCTCGACAG	0.547000													28	78					0	0	0.007291	0	0
BCRP7	100133163	broad.mit.edu	37	22	18844766	18844766	+	RNA	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr22:18844766G>A	ENST00000412938.1	+	0	3016																											CAGCCTCTGAGGGCAGCAGTG	0.557000													7	12					0	0	0.001984	0	0
ELOVL3	83401	broad.mit.edu	37	10	103988208	103988208	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:103988208G>A	ENST00000370005.3	+	3	489	c.268G>A	c.(268-270)Ggg>Agg	p.G90R		NM_152310.1	NP_689523.1	Q9HB03	ELOV3_HUMAN	ELOVL fatty acid elongase 3	90					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16		Colorectal(252;0.207)		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)		GGGCATTATGGGGACTGTGCT	0.507000													16	34					0	0	0.004990	0	0
CCDC142	84865	broad.mit.edu	37	2	74709906	74709906	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:74709906C>T	ENST00000393965.3	-	1	455	c.59G>A	c.(58-60)aGg>aAg	p.R20K	CCDC142_ENST00000471713.1_Intron|CCDC142_ENST00000290418.4_Missense_Mutation_p.R20K	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	20										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						GGGTTGCGCCCTCAGCGGGGG	0.667000													20	74					0	0	0.008871	0	0
GRIN3A	116443	broad.mit.edu	37	9	104448938	104448938	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:104448938C>T	ENST00000361820.3	-	2	1844	c.1244G>A	c.(1243-1245)aGc>aAc	p.S415N		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	415					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GTTCATCGTGCTGGGAATGAG	0.478000													30	55					0	0	0.007291	0	0
POTEF	728378	broad.mit.edu	37	2	130832596	130832596	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:130832596C>T	ENST00000357462.5	-	15	2542	c.2449G>A	c.(2449-2451)Gag>Aag	p.E817K	POTEF_ENST00000409914.2_Missense_Mutation_p.E817K			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	817	Actin-like.					cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GTCATCTTCTCGCGGTTGGCC	0.597000													49	130					0	0	0.003610	0	0
SPAG11B	10407	broad.mit.edu	37	8	7308311	7308311	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:7308311C>T	ENST00000398462.2	-	3	476	c.326G>A	c.(325-327)tGg>tAg	p.W109*	SPAG11B_ENST00000359758.5_Intron|SPAG11B_ENST00000458665.1_Nonsense_Mutation_p.W56*|SPAG11B_ENST00000361111.2_Intron|SPAG11B_ENST00000528168.1_3'UTR|SPAG11B_ENST00000297498.2_3'UTR	NM_058201.2	NP_478108.2	Q08648	SG11B_HUMAN	sperm associated antigen 11B	0					spermatogenesis	extracellular region				large_intestine(2)|lung(3)|urinary_tract(1)	6				COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		ACACCTATTCCAGGGATCAGA	0.448000													5	72					0	0	0.000602	0	0
IGLV2-33	28811	broad.mit.edu	37	22	22930894	22930894	+	RNA	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr22:22930894C>T	ENST00000390302.2	+	0	147																											CCTTTTGTGTCCGGGGCTCCT	0.562000													67	164					0	0	0.003610	0	0
SPHKAP	80309	broad.mit.edu	37	2	228881246	228881246	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:228881246C>T	ENST00000392056.3	-	7	4370	c.4324G>A	c.(4324-4326)Gaa>Aaa	p.E1442K	SPHKAP_ENST00000344657.5_Missense_Mutation_p.E1442K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1442						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GGTTCAGGTTCCCCAGCACAG	0.498000													25	55					0	0	0.003330	0	0
EFCAB5	374786	broad.mit.edu	37	17	28417578	28417578	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:28417578A>T	ENST00000394835.3	+	20	4015	c.3823A>T	c.(3823-3825)Atg>Ttg	p.M1275L	EFCAB5_ENST00000320856.5_Missense_Mutation_p.M1151L|EFCAB5_ENST00000394832.2_Intron|RP11-1148O4.2_ENST00000582938.1_RNA	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1275							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CCAAAATAGGATGTTGTTGTG	0.433000													40	108					0	0	0.002522	0	0
BOD1L1	259282	broad.mit.edu	37	4	13621619	13621619	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:13621619G>A	ENST00000040738.5	-	2	451	c.316C>T	c.(316-318)Ccg>Tcg	p.P106S		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	106							DNA binding										TTGAGATGCGGACTCCATGTG	0.418000													6	20					0	0	0.001168	0	0
SH3TC1	54436	broad.mit.edu	37	4	8229591	8229591	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:8229591C>T	ENST00000539824.1	+	12	2316	c.1942C>T	c.(1942-1944)Cac>Tac	p.H648Y	SH3TC1_ENST00000245105.3_Missense_Mutation_p.H724Y			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	724							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GTGCCTGCCCCACCTGGTGCT	0.652000													22	56					0	0	0.004656	0	0
ATXN1	6310	broad.mit.edu	37	6	16327060	16327060	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:16327060G>A	ENST00000244769.4	-	8	2418	c.1482C>T	c.(1480-1482)gtC>gtT	p.V494V	ATXN1_ENST00000436367.1_Silent_p.V494V	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	494	Self-association.				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				CAGTGCTGCCGACCGGGATGA	0.662000													40	104					0	0	0.003610	0	0
CRMP1	1400	broad.mit.edu	37	4	5868472	5868472	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:5868472G>A	ENST00000324989.7	-	2	481	c.393C>T	c.(391-393)ctC>ctT	p.L131L	CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000397890.2_Silent_p.L17L|CRMP1_ENST00000512574.1_Silent_p.L15L	NM_001014809.1	NP_001014809.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	17					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		CTTTGATGAGGAGTCGGTCAC	0.393000													15	44					0	0	0.004990	0	0
ZC3H12D	340152	broad.mit.edu	37	6	149795614	149795614	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:149795614C>T	ENST00000389942.5	-	2	313	c.66G>A	c.(64-66)cgG>cgA	p.R22R	ZC3H12D_ENST00000416573.2_Silent_p.R22R|ZC3H12D_ENST00000409806.3_Silent_p.R22R|ZC3H12D_ENST00000542614.1_Silent_p.R22R|ZC3H12D_ENST00000409948.1_Silent_p.R22R			A2A288	ZC12D_HUMAN	zinc finger CCCH-type containing 12D	22						cytoplasm|nucleus	endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921)		TGCCCAACACCCGGAGCACAT	0.682000													3	4					0	0	0.009096	0	0
RGS6	9628	broad.mit.edu	37	14	72925077	72925077	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:72925077C>T	ENST00000553530.1	+	5	541	c.334C>T	c.(334-336)Cgt>Tgt	p.R112C	RGS6_ENST00000556437.1_Missense_Mutation_p.R112C|RGS6_ENST00000434263.2_Missense_Mutation_p.R43C|RGS6_ENST00000355512.6_Missense_Mutation_p.R112C|RGS6_ENST00000553525.1_Missense_Mutation_p.R112C|RGS6_ENST00000402788.2_Missense_Mutation_p.R112C|RGS6_ENST00000406236.4_Missense_Mutation_p.R112C|RGS6_ENST00000404301.2_Missense_Mutation_p.R112C|RGS6_ENST00000553690.1_3'UTR|RGS6_ENST00000343854.6_Missense_Mutation_p.R112C|RGS6_ENST00000555571.1_Missense_Mutation_p.R112C|RGS6_ENST00000407322.4_Missense_Mutation_p.R112C	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	112	DEP.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	p.R112C(1)		endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		CACCTTTTATCGTTTCCAGGT	0.453000													19	59					0	0	0.010504	0	0
ZBTB11	27107	broad.mit.edu	37	3	101370483	101370483	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:101370483C>T	ENST00000312938.4	-	11	3269	c.2689G>A	c.(2689-2691)Gat>Aat	p.D897N		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	897					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GATCGGGCATCAGCCCAAGCT	0.433000													38	63					0	0	0.006999	0	0
PTPRK	5796	broad.mit.edu	37	6	128410983	128410983	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:128410983C>T	ENST00000368227.3	-	8	1683	c.1317G>A	c.(1315-1317)aaG>aaA	p.K439K	PTPRK_ENST00000368226.4_Silent_p.K439K|PTPRK_ENST00000368207.3_Silent_p.K439K|PTPRK_ENST00000368213.5_Silent_p.K439K|PTPRK_ENST00000368210.3_Silent_p.K439K|PTPRK_ENST00000368215.3_Silent_p.K439K|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000532331.1_Silent_p.K439K			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	439	Fibronectin type-III 2.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		AACAGTCTGCCTTGCTCTCGT	0.478000													21	25					0	0	0.008871	0	0
DHRS3	9249	broad.mit.edu	37	1	12639420	12639420	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:12639420C>T	ENST00000376223.2	-	3	743	c.360G>A	c.(358-360)ctG>ctA	p.L120L		NM_004753.4	NP_004744.2	O75911	DHRS3_HUMAN	dehydrogenase/reductase (SDR family) member 3	120					retinol metabolic process|visual perception	integral to membrane	electron carrier activity|NADP-retinol dehydrogenase activity|nucleotide binding			cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	CATTGTTCACCAGGATGGTGA	0.557000													15	23					0	0	0.004007	0	0
USH2A	7399	broad.mit.edu	37	1	216348792	216348792	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:216348792C>T	ENST00000366943.2	-	21	4815	c.4429G>A	c.(4429-4431)Gga>Aga	p.G1477R	USH2A_ENST00000366942.3_Missense_Mutation_p.G1477R|USH2A_ENST00000307340.3_Missense_Mutation_p.G1477R			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1477					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTGTTGATTCCTTTAACCAGA	0.413000										HNSCC(13;0.011)			11	28					0	0	0.000978	0	0
ALB	213	broad.mit.edu	37	4	74275124	74275124	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:74275124C>T	ENST00000295897.4	+	5	624	c.535C>T	c.(535-537)Ctt>Ttt	p.L179F	ALB_ENST00000509063.1_Missense_Mutation_p.L179F|ALB_ENST00000401494.3_Missense_Mutation_p.L64F|ALB_ENST00000503124.1_Missense_Mutation_p.L29F|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000415165.2_Intron	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	179	Albumin 1.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	CCCGGAACTCCTTTTCTTTGC	0.353000													18	64					0	0	0.006122	0	0
ERGIC1	57222	broad.mit.edu	37	5	172324008	172324008	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:172324008C>T	ENST00000393784.3	+	3	225	c.86C>T	c.(85-87)tCc>tTc	p.S29F	ERGIC1_ENST00000519860.1_3'UTR|ERGIC1_ENST00000523291.1_Missense_Mutation_p.S29F	NM_001031711.2	NP_001026881.1	Q969X5	ERGI1_HUMAN	endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1	29					ER to Golgi vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)	9	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTTCCAGTCTCCATCTGCTGC	0.517000													18	46					0	0	0.001882	0	0
KMT2C	58508	broad.mit.edu	37	7	151970830	151970830	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:151970830G>A	ENST00000355193.2	-	7	1190	c.972C>T	c.(970-972)ttC>ttT	p.F324F	KMT2C_ENST00000262189.6_Silent_p.F324F					lysine (K)-specific methyltransferase 2C																		GACAAAGCAGGAAGATGTGAC	0.398000													6	186					0	0	0.001984	0	0
ANKRD27	84079	broad.mit.edu	37	19	33089106	33089106	+	Missense_Mutation	SNP	G	G	A	rs150349860		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:33089106G>A	ENST00000306065.4	-	29	3256	c.3098C>T	c.(3097-3099)cCg>cTg	p.P1033L		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	1033					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					AGCAGCCTCCGGGCCCTGGGA	0.617000													32	54					0	0	0.002836	0	0
PCDH15	65217	broad.mit.edu	37	10	55566598	55566598	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:55566598G>A	ENST00000373965.2	-	36	5190	c.4796C>T	c.(4795-4797)tCa>tTa	p.S1599L	PCDH15_ENST00000414778.1_Missense_Mutation_p.S1596L	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGGCCCCTTTGATAATGTGTT	0.458000										HNSCC(58;0.16)			67	164					0	0	0.003610	0	0
WDR16	146845	broad.mit.edu	37	17	9515667	9515667	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:9515667G>A	ENST00000352665.5	+	8	965	c.896G>A	c.(895-897)cGa>cAa	p.R299Q	WDR16_ENST00000396219.3_Missense_Mutation_p.R231Q|WDR16_ENST00000299764.5_Missense_Mutation_p.R309Q	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	299						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						ATCACACTTCGAGGAGAAGGA	0.428000													32	43					0	0	0.002445	0	0
RCL1	10171	broad.mit.edu	37	9	4844531	4844531	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:4844531G>A	ENST00000381750.4	+	7	940	c.717G>A	c.(715-717)ccG>ccA	p.P239P	RCL1_ENST00000381728.1_Silent_p.P53P|RCL1_ENST00000448872.2_Silent_p.P53P|RCL1_ENST00000381730.1_Silent_p.P53P	NM_005772.3	NP_005763.3	Q9Y2P8	RCL1_HUMAN	RNA terminal phosphate cyclase-like 1	239					ribosome biogenesis|RNA processing	nucleolus	RNA-3'-phosphate cyclase activity			breast(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0244)		CCAGGTCTCCGGGCTTTGGGT	0.517000													23	75					0	0	0.002780	0	0
POLQ	10721	broad.mit.edu	37	3	121256010	121256010	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:121256010C>T	ENST00000264233.5	-	5	805	c.677G>A	c.(676-678)cGa>cAa	p.R226Q		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	226	Helicase ATP-binding.				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	p.R359Q(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CAGATACCCTCGGTGAGAGTC	0.388000								DNA polymerases (catalytic subunits)					27	40					0	0	0.008361	0	0
ABCC10	89845	broad.mit.edu	37	6	43403587	43403587	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:43403587C>T	ENST00000244533.3	+	3	1937	c.1578C>T	c.(1576-1578)gaC>gaT	p.D526D	ABCC10_ENST00000372530.4_Silent_p.D569D	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	569	ABC transmembrane type-1 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TGTCCTTGGACCGGATCCAGC	0.562000													28	51					0	0	0.006320	0	0
HRG	3273	broad.mit.edu	37	3	186387769	186387769	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:186387769G>A	ENST00000232003.4	+	3	423	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	115	Cystatin 1.				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		ACATTCCCATGAATCTCAGGA	0.393000													35	47					0	0	0.004289	0	0
GABRE	2564	broad.mit.edu	37	X	151138774	151138774	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:151138774C>T	ENST00000370325.1	-	2	210	c.157G>A	c.(157-159)Gaa>Aaa	p.E53K	GABRE_ENST00000393914.3_5'UTR|GABRE_ENST00000370328.3_Missense_Mutation_p.E53K			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	53					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GACTTTGTTTCCTCAGAGAGG	0.507000													63	135					0	0	0.003610	0	0
MIR519D	574480	broad.mit.edu	37	19	54216635	54216635	+	RNA	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:54216635C>T	ENST00000385246.1	+	0	35					NR_030202.1																						GAAGCGCTTTCTGTTTGTTTT	0.438000													27	58					0	0	0.007291	0	0
EXPH5	23086	broad.mit.edu	37	11	108380663	108380663	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:108380663G>A	ENST00000265843.4	-	6	5681	c.5571C>T	c.(5569-5571)tcC>tcT	p.S1857S	EXPH5_ENST00000443411.1_Silent_p.S1669S|EXPH5_ENST00000428840.1_Silent_p.S1781S|EXPH5_ENST00000525344.1_Silent_p.S1850S	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	1857					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TTCCATCACAGGAGGGGAGTT	0.453000													21	11					0	0	0.010504	0	0
CCBE1	147372	broad.mit.edu	37	18	57133995	57133995	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:57133995C>T	ENST00000439986.4	-	5	566	c.529G>A	c.(529-531)Gga>Aga	p.G177R	CCBE1_ENST00000398179.2_5'UTR	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	177					lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				TATTTGTCTCCCCTGGTACAT	0.448000													47	115					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179631139	179631139	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:179631139C>T	ENST00000589042.1	-	41	9896	c.9672G>A	c.(9670-9672)agG>agA	p.R3224R	TTN_ENST00000342175.6_Silent_p.R3178R|TTN_ENST00000591111.1_Silent_p.R3224R|TTN_ENST00000359218.5_Silent_p.R3178R|TTN_ENST00000460472.2_Silent_p.R3178R|TTN_ENST00000360870.5_Silent_p.R3224R|TTN_ENST00000342992.6_Silent_p.R3224R|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2957							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)			AACTCCTGTTCCTTCCTGCCA	0.413000													38	67					0	0	0.008740	0	0
ASAP1	50807	broad.mit.edu	37	8	131179807	131179807	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:131179807G>A	ENST00000357668.1	-	10	911	c.884C>T	c.(883-885)tCc>tTc	p.S295F	ASAP1_ENST00000518721.1_Missense_Mutation_p.S295F			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	295					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TTGAAGAGAGGATTTTATTAA	0.358000													62	166					0	0	0.003610	0	0
CSMD2	114784	broad.mit.edu	37	1	34286101	34286101	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:34286101C>T	ENST00000373381.4	-	8	1344	c.1168G>A	c.(1168-1170)Gaa>Aaa	p.E390K		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	350	Sushi 2.					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)				TTGCCCCTTTCGGGTATGCCA	0.458000													56	147					0	0	0.003610	0	0
SLC26A7	115111	broad.mit.edu	37	8	92378825	92378825	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:92378825G>A	ENST00000276609.3	+	14	1745	c.1506G>A	c.(1504-1506)gtG>gtA	p.V502V	SLC26A7_ENST00000523719.1_Silent_p.V502V|SLC26A7_ENST00000309536.2_Silent_p.V502V|SLC26A7_ENST00000520249.1_3'UTR	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	502	STAS.					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TGCAGCAGGTGAAAATTATCT	0.323000													14	34					0	0	0.001855	0	0
DCLRE1B	64858	broad.mit.edu	37	1	114454215	114454215	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:114454215C>T	ENST00000369563.3	+	4	1447	c.1001C>T	c.(1000-1002)cCa>cTa	p.P334L	DCLRE1B_ENST00000466480.1_3'UTR	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	334					cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		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)		TCTAGAAAACCAAGCCTTCTC	0.522000								Other identified genes with known or suspected DNA repair function					18	42					0	0	0.007413	0	0
KCTD19	146212	broad.mit.edu	37	16	67337091	67337091	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:67337091C>T	ENST00000304372.5	-	4	656	c.601G>A	c.(601-603)Gtg>Atg	p.V201M	KCTD19_ENST00000562860.1_5'UTR	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	201						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		ATGAGGGCCACCGTCTCAGCC	0.612000													12	32					0	0	0.001855	0	0
DUOX2	50506	broad.mit.edu	37	15	45398008	45398008	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:45398008C>T	ENST00000389039.6	-	18	2552	c.2167G>A	c.(2167-2169)Gaa>Aaa	p.E723K	DUOX2_ENST00000603300.1_Missense_Mutation_p.E723K			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	723					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CGTTCCTCTTCAGAACTAAAC	0.592000													18	58					0	0	0.004990	0	0
TULP2	7288	broad.mit.edu	37	19	49391338	49391338	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:49391338C>T	ENST00000221399.3	-	8	961	c.817G>A	c.(817-819)Gaa>Aaa	p.E273K		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	273					visual perception	cytoplasm|extracellular region				NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		ACGTAGGCTTCCATGTCCTCC	0.642000													12	28					0	0	0.001855	0	0
SRGAP3	9901	broad.mit.edu	37	3	9074387	9074387	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:9074387G>A	ENST00000383836.3	-	12	1913	c.1486C>T	c.(1486-1488)Ctc>Ttc	p.L496F	SRGAP3_ENST00000360413.3_Intron|SRGAP3_ENST00000433332.3_5'UTR	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	496	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TACACTGAGAGAGGCCTAGGT	0.468000			T	RAF1	pilocytic astrocytoma								30	50					0	0	0.002096	0	0
FNIP1	96459	broad.mit.edu	37	5	131006312	131006312	+	Silent	SNP	G	G	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:131006312G>T	ENST00000307968.7	-	14	2867	c.2868C>A	c.(2866-2868)atC>atA	p.I956I	FNIP1_ENST00000514667.1_Intron|FNIP1_ENST00000510461.1_Silent_p.I984I|FNIP1_ENST00000307954.8_Silent_p.I939I	NM_001008738.2	NP_001008738.2			folliculin interacting protein 1											NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		CACTCACTTCGATTAACTTTG	0.383000													27	66					2.24059e-21	2.29826e-21	0.006320	1	0
ADAMTS20	80070	broad.mit.edu	37	12	43826249	43826249	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:43826249C>T	ENST00000389420.3	-	21	2953	c.2954G>A	c.(2953-2955)gGg>gAg	p.G985E	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.G985E|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.G139E	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	985	TSP type-1 4.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AGACCTTTCCCCTCCTCCACA	0.363000													14	54					0	0	0.003163	0	0
CCDC40	55036	broad.mit.edu	37	17	78022533	78022533	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:78022533C>T	ENST00000397545.4	+	5	855	c.828C>T	c.(826-828)tcC>tcT	p.S276S	CCDC40_ENST00000269318.5_Silent_p.S276S|CCDC40_ENST00000374876.4_Silent_p.S276S|CCDC40_ENST00000374877.3_Silent_p.S276S	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	276					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			ACGAAGGGTCCCAGCTGGTGG	0.592000													10	10					0	0	0.006214	0	0
SNHG14	104472715	broad.mit.edu	37	15	25427460	25427460	+	RNA	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:25427460C>T	ENST00000424208.1	+	0	257					NR_003305.1																						GCCCTGGTCTCCTGCATTGAG	0.607000													19	55					0	0	0.006122	0	0
MXRA5	25878	broad.mit.edu	37	X	3242075	3242075	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:3242075C>T	ENST00000217939.6	-	5	1805	c.1651G>A	c.(1651-1653)Ggc>Agc	p.G551S		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	551	Ig-like C2-type 1.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGGTACAAGCCTGAGTCAGAT	0.537000													8	31					0	0	0.003080	0	0
OR6V1	346517	broad.mit.edu	37	7	142750181	142750181	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:142750181C>T	ENST00000418316.1	+	1	765	c.744C>T	c.(742-744)atC>atT	p.I248I		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					TGGTCTTCATCGGCTACAGTA	0.552000													41	116					0	0	0.008740	0	0
TULP1	7287	broad.mit.edu	37	6	35477426	35477426	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:35477426C>T	ENST00000229771.6	-	7	782	c.703G>A	c.(703-705)Gcc>Acc	p.A235T	TULP1_ENST00000322263.4_Missense_Mutation_p.A182T	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	235					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						TTCTTCAGGGCTTTCTTGTCA	0.597000													41	66					0	0	0.009718	0	0
PVRL3	25945	broad.mit.edu	37	3	110852551	110852551	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:110852551T>C	ENST00000485303.1	+	6	1414	c.1139T>C	c.(1138-1140)cTa>cCa	p.L380P	PVRL3_ENST00000319792.3_3'UTR|PVRL3_ENST00000493615.1_Intron	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	380					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						ATCGAGGATCTAGCAACAGAA	0.448000													20	67					0	0	0.007413	0	0
DNAH5	1767	broad.mit.edu	37	5	13862836	13862836	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:13862836C>T	ENST00000265104.4	-	29	4721	c.4617G>A	c.(4615-4617)gtG>gtA	p.V1539V	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1539	Stem (By similarity).				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)					CTCTCTCTTTCACCGCACTGA	0.428000									Kartagener syndrome				28	34					0	0	0.009535	0	0
DSG1	1828	broad.mit.edu	37	18	28934464	28934464	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:28934464C>T	ENST00000257192.4	+	15	2517	c.2305C>T	c.(2305-2307)Cca>Tca	p.P769S	DSG1_ENST00000462981.2_Missense_Mutation_p.P128S|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	769					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)			AGAATCATATCCAGACCTTGA	0.478000													33	83					0	0	0.002445	0	0
TAOK2	9344	broad.mit.edu	37	16	29990326	29990326	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:29990326C>T	ENST00000308893.4	+	6	1427	c.384C>T	c.(382-384)atC>atT	p.I128I	TAOK2_ENST00000279394.3_Silent_p.I128I|TAOK2_ENST00000543033.1_Silent_p.I128I	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	128	Protein kinase.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						AGGTAGAGATCGCAGCTGTGA	0.577000													27	93					0	0	0.008361	0	0
FAM47C	442444	broad.mit.edu	37	X	37029438	37029438	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:37029438C>T	ENST00000358047.3	+	1	3007	c.2955C>T	c.(2953-2955)ttC>ttT	p.F985F		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	985										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TTAAGGATTTCATTCTAAGCA	0.448000													47	104					0	0	0.003610	0	0
DSC3	1825	broad.mit.edu	37	18	28604315	28604315	+	Splice_Site	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:28604315C>T	ENST00000434452.1	-	6	929	c.775_splice	c.e6+1	p.G259_splice	DSC3_ENST00000360428.4_Splice_Site_p.G259_splice	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	259	Cadherin 2.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			GCAGACTTACCAGGTCTACTA	0.368000													4	24					0	0	0.009096	0	0
GALNT6	11226	broad.mit.edu	37	12	51752919	51752919	+	Silent	SNP	T	T	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:51752919T>C	ENST00000543196.2	-	7	1570	c.1365A>G	c.(1363-1365)caA>caG	p.Q455Q	GALNT6_ENST00000356317.3_Silent_p.Q455Q			Q8NCL4	GALT6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)	455					protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CTCTCACCTCTTGGGCCATCT	0.517000													4	319					0	0	0.000602	0	0
KRT1	3848	broad.mit.edu	37	12	53070165	53070165	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:53070165C>T	ENST00000252244.3	-	7	1427	c.1369G>A	c.(1369-1371)Gac>Aac	p.D457N		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	457	Coil 2.|Rod.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						CGGGCCAGGTCTTCCTTGGCC	0.592000													16	41					0	0	0.006122	0	0
GJD2	57369	broad.mit.edu	37	15	35045173	35045173	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:35045173C>T	ENST00000290374.4	-	2	948	c.472G>A	c.(472-474)Gag>Aag	p.E158K		NM_020660.2	NP_065711.1	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	158					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)		CTGGTGTTCTCTGTGTTCTGC	0.512000													80	156					0	0	0.003610	0	0
ABCD2	225	broad.mit.edu	37	12	39997802	39997802	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:39997802A>G	ENST00000308666.3	-	5	1547	c.1412T>C	c.(1411-1413)gTt>gCt	p.V471A		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	471					fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						CACATCAATAACTTTTCCTGT	0.313000													23	46					0	0	0.002780	0	0
USP19	10869	broad.mit.edu	37	3	49150050	49150050	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:49150050G>A	ENST00000453664.1	-	18	2800	c.2482C>T	c.(2482-2484)Cgt>Tgt	p.R828C	USP19_ENST00000417901.1_Missense_Mutation_p.R840C|USP19_ENST00000398892.3_Missense_Mutation_p.R777C|USP19_ENST00000398898.2_Missense_Mutation_p.R777C|USP19_ENST00000398888.2_Missense_Mutation_p.R737C|USP19_ENST00000434032.2_Missense_Mutation_p.R838C|USP19_ENST00000398896.1_Missense_Mutation_p.R545C	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	737					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CGATGAAAACGATTCTTAATT	0.522000													21	42					0	0	0.001882	0	0
SALL1	6299	broad.mit.edu	37	16	51173406	51173406	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:51173406C>T	ENST00000440970.1	-	2	2867	c.2436G>A	c.(2434-2436)atG>atA	p.M812I	SALL1_ENST00000251020.4_Missense_Mutation_p.M909I|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	909					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TTTGGCTTTCCATGTCACCAC	0.577000													22	36					0	0	0.010504	0	0
CDKN1B	1027	broad.mit.edu	37	12	12874125	12874125	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:12874125T>C	ENST00000396340.1	+	2	620	c.602T>C	c.(601-603)tTa>tCa	p.L201S	CDKN1B_ENST00000228872.4_3'UTR|CDKN1B_ENST00000477087.1_3'UTR			P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	0					autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		ACTAAAATTTTAGGCACTCTT	0.313000													12	18					0	0	0.001855	0	0
DNAH3	55567	broad.mit.edu	37	16	21069505	21069505	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:21069505G>A	ENST00000261383.3	-	27	3825	c.3826C>T	c.(3826-3828)Cac>Tac	p.H1276Y	DNAH3_ENST00000415178.1_Missense_Mutation_p.H1276Y	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1276	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AAGACCCAGTGATTTCGAGGG	0.507000													9	31					0	0	0.008291	0	0
SCN5A	6331	broad.mit.edu	37	3	38592513	38592513	+	Missense_Mutation	SNP	C	C	T	rs137854601		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:38592513C>T	ENST00000413689.1	-	28	5543	c.5350G>A	c.(5350-5352)Gag>Aag	p.E1784K	SCN5A_ENST00000333535.4_Missense_Mutation_p.E1784K|SCN5A_ENST00000455624.2_Missense_Mutation_p.E1751K|SCN5A_ENST00000451551.2_Missense_Mutation_p.E1730K|SCN5A_ENST00000450102.2_Missense_Mutation_p.E1730K|SCN5A_ENST00000449557.2_Missense_Mutation_p.E1730K|SCN5A_ENST00000443581.1_Missense_Mutation_p.E1783K|SCN5A_ENST00000425664.1_Missense_Mutation_p.E1766K|SCN5A_ENST00000423572.2_Missense_Mutation_p.E1783K|SCN5A_ENST00000414099.2_Missense_Mutation_p.E1766K	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1784			E -> K (in LQT3 and BRS1).		blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CTCAGGGGCTCGGTGCTCTCC	0.498000													23	62					0	0	0.002299	0	0
CD163	9332	broad.mit.edu	37	12	7635337	7635337	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:7635337G>A	ENST00000359156.4	-	14	3351	c.3149C>T	c.(3148-3150)tCc>tTc	p.S1050F	CD163_ENST00000432237.2_Missense_Mutation_p.S1050F|CD163_ENST00000396620.3_Missense_Mutation_p.S1083F|CD163_ENST00000541972.1_Missense_Mutation_p.S1038F	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1050					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TGCAATAAAGGATGACTGACG	0.423000													28	43					0	0	0.008361	0	0
HRG	3273	broad.mit.edu	37	3	186395141	186395141	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:186395141C>T	ENST00000232003.4	+	7	1127	c.1047C>T	c.(1045-1047)ctC>ctT	p.L349L		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	349					fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		CCAGTGACCTccatccccata	0.483000													36	42					0	0	0.004289	0	0
KIAA0368	23392	broad.mit.edu	37	9	114132741	114132741	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:114132741T>G	ENST00000259335.4	-	46	5481	c.5482A>C	c.(5482-5484)Aac>Cac	p.N1828H	KIAA0368_ENST00000374378.3_Missense_Mutation_p.N114H|KIAA0368_ENST00000465499.1_5'UTR|KIAA0368_ENST00000338205.5_Missense_Mutation_p.N1650H	NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						ATGACAATGTTAGAGAACTCC	0.373000													6	14					0	0	0.001984	0	0
GMEB2	26205	broad.mit.edu	37	20	62221454	62221454	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:62221454G>C	ENST00000266068.1	-	9	2059	c.1581C>G	c.(1579-1581)caC>caG	p.H527Q	GMEB2_ENST00000370069.1_Missense_Mutation_p.H476Q|GMEB2_ENST00000370077.1_Missense_Mutation_p.H527Q			Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding protein 2	527					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding	p.H527H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			ACTTCCGCTCGTGGTCCTCTG	0.711000													8	30					0	0	0.003080	0	0
BMP1	649	broad.mit.edu	37	8	22037291	22037291	+	Missense_Mutation	SNP	C	C	T	rs73670368	by1000genomes	TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:22037291C>T	ENST00000306385.5	+	7	1580	c.910C>T	c.(910-912)Cgg>Tgg	p.R304W	BMP1_ENST00000397814.3_Missense_Mutation_p.R304W|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397816.3_Missense_Mutation_p.R304W|BMP1_ENST00000306349.8_Missense_Mutation_p.R304W	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	304	Metalloprotease.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CCAAAGGACACGGCTCAGCAA	0.582000													11	39					0	0	0.000978	0	0
TRBV27	28560	broad.mit.edu	37	7	142423626	142423626	+	RNA	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:142423626C>T	ENST00000506718.1	+	0	634				TRBV27_ENST00000390399.3_RNA																							GGAATTTCCCCCTGATCCTGG	0.493000													12	51					0	0	0.001855	0	0
EXOSC7	23016	broad.mit.edu	37	3	45046796	45046796	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:45046796C>T	ENST00000265564.7	+	6	553	c.505C>T	c.(505-507)Cga>Tga	p.R169*	CLEC3B_ENST00000490386.1_Intron|EXOSC7_ENST00000461361.1_3'UTR	NM_015004.3	NP_055819.2	Q15024	EXOS7_HUMAN	exosome component 7	169			R -> Q (in dbSNP:rs34512144).		exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	3'-5'-exoribonuclease activity|protein binding|RNA binding			endometrium(3)|large_intestine(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064)		ACCAAGGGTTCGAGTTTTGGA	0.438000													25	51					0	0	0.003954	0	0
ADARB2	105	broad.mit.edu	37	10	1279772	1279772	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:1279772G>A	ENST00000381312.1	-	6	1702	c.1377C>T	c.(1375-1377)gaC>gaT	p.D459D	ADARB2_ENST00000469464.1_5'UTR	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	459	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		ATCGCTCTGAGTCCTCGCGCC	0.522000													17	37					0	0	0.007413	0	0
SNCAIP	9627	broad.mit.edu	37	5	121739548	121739548	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:121739548G>A	ENST00000261367.7	+	5	1687	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K	SNCAIP_ENST00000503116.2_Missense_Mutation_p.E87K|SNCAIP_ENST00000379538.3_Silent_p.T24T|SNCAIP_ENST00000414317.2_Silent_p.T30T|SNCAIP_ENST00000379533.2_Missense_Mutation_p.E87K|SNCAIP_ENST00000261368.8_Missense_Mutation_p.E40K|SNCAIP_ENST00000542191.1_5'UTR|SNCAIP_ENST00000379536.2_Missense_Mutation_p.E40K|SNCAIP_ENST00000504884.2_Missense_Mutation_p.E40K			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	40					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		TACGCAAAACGAAGACAGATC	0.478000													25	61					0	0	0.003954	0	0
EIF4EBP1	1978	broad.mit.edu	37	8	37914672	37914672	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:37914672G>A	ENST00000338825.4	+	2	452	c.219G>A	c.(217-219)agG>agA	p.R73R	EIF4EBP1_ENST00000520657.1_3'UTR	NM_004095.3	NP_004086.1	Q13541	4EBP1_HUMAN	eukaryotic translation initiation factor 4E binding protein 1	73					G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|positive regulation of mitotic cell cycle|TOR signaling cascade|translation	cytosol				endometrium(1)|lung(1)|ovary(1)|urinary_tract(1)	4	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)				CACCCCCAAGGGATCTGCCCA	0.572000													29	55					0	0	0.006320	0	0
TMEM50A	23585	broad.mit.edu	37	1	25679392	25679392	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:25679392C>T	ENST00000374358.4	+	5	847	c.294C>T	c.(292-294)ttC>ttT	p.F98F	TMEM50A_ENST00000480937.1_Intron	NM_014313.3	NP_055128.1	O95807	TM50A_HUMAN	transmembrane protein 50A	98						endoplasmic reticulum|integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;3.47e-27)|Colorectal(126;1.1e-08)|COAD - Colon adenocarcinoma(152;7.48e-07)|STAD - Stomach adenocarcinoma(196;0.00035)|BRCA - Breast invasive adenocarcinoma(304;0.00047)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|GBM - Glioblastoma multiforme(114;0.00106)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.204)		TTTGGCTTTTCGTTGGTTTCA	0.333000													12	47					0	0	0.001855	0	0
DPEP1	1800	broad.mit.edu	37	16	89702702	89702702	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:89702702C>T	ENST00000393092.3	+	4	559	c.268C>T	c.(268-270)Cag>Tag	p.Q90*	DPEP1_ENST00000421184.1_Nonsense_Mutation_p.Q90*|DPEP1_ENST00000261615.4_Nonsense_Mutation_p.Q90*	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	90					proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding			large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	CTGCGACACCCAGAACAAAGA	0.652000													7	24					0	0	0.003080	0	0
KRT36	8689	broad.mit.edu	37	17	39645872	39645872	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:39645872C>T	ENST00000393986.2	-	2	307	c.95G>A	c.(94-96)gGc>gAc	p.G32D	KRT36_ENST00000328119.6_Missense_Mutation_p.G82D			O76013	KRT36_HUMAN	keratin 36	82	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)				GCAGAACCAGCCCCCGCTCCC	0.612000													31	77					0	0	0.002096	0	0
DCC	1630	broad.mit.edu	37	18	50985602	50985602	+	Splice_Site	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:50985602G>A	ENST00000442544.2	+	24	4009	c.3392_splice	c.e24-1	p.K1131_splice	DCC_ENST00000581580.1_Splice_Site_p.K766_splice	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1131					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGTTCCATAGGAAACGGGCCA	0.443000													14	32					0	0	0.001855	0	0
ROS1	6098	broad.mit.edu	37	6	117710693	117710693	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:117710693C>T	ENST00000368508.3	-	12	1777	c.1579G>A	c.(1579-1581)Gaa>Aaa	p.E527K	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.E536K	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	527					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ACGATGAATTCATTAAAAGAC	0.448000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								18	26					0	0	0.007413	0	0
GUCY2F	2986	broad.mit.edu	37	X	108696842	108696842	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:108696842C>T	ENST00000218006.2	-	4	1570	c.1279G>A	c.(1279-1281)Gaa>Aaa	p.E427K		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	427					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						AGCTCCATTTCCATGTCCACA	0.478000													31	57					0	0	0.002096	0	0
GLUD2	2747	broad.mit.edu	37	X	120182569	120182569	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:120182569A>G	ENST00000328078.1	+	1	1108	c.1031A>G	c.(1030-1032)gAc>gGc	p.D344G		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	344					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	GATGGTATTGACCCAAAGGAA	0.453000													65	125					0	0	0.003610	0	0
USP19	10869	broad.mit.edu	37	3	49149153	49149153	+	Silent	SNP	A	A	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:49149153A>G	ENST00000453664.1	-	21	3279	c.2961T>C	c.(2959-2961)ggT>ggC	p.G987G	USP19_ENST00000417901.1_Silent_p.G999G|USP19_ENST00000398892.3_Silent_p.G936G|USP19_ENST00000398898.2_Silent_p.G936G|USP19_ENST00000398888.2_Silent_p.G896G|USP19_ENST00000434032.2_Silent_p.G997G|USP19_ENST00000398896.1_Silent_p.G704G	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	896					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCTCCAGGGAACCTGTGGAGA	0.627000													12	42					0	0	0.001855	0	0
CCR1	1230	broad.mit.edu	37	3	46244743	46244743	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:46244743C>T	ENST00000296140.3	-	2	1187	c.1062G>A	c.(1060-1062)ggG>ggA	p.G354G	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	354					cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		TGAGTCAGAACCCAGCAGAGA	0.592000													13	39					0	0	0.001855	0	0
FGFR1	2260	broad.mit.edu	37	8	38314906	38314906	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:38314906G>A	ENST00000341462.5	-	2	1000	c.59C>T	c.(58-60)aCc>aTc	p.T20I	FGFR1_ENST00000356207.5_Missense_Mutation_p.T20I|FGFR1_ENST00000397108.4_Missense_Mutation_p.T20I|FGFR1_ENST00000397091.5_Missense_Mutation_p.T20I|FGFR1_ENST00000532791.1_Missense_Mutation_p.T20I|FGFR1_ENST00000335922.5_5'UTR|FGFR1_ENST00000397113.2_Missense_Mutation_p.T20I|FGFR1_ENST00000397103.1_Missense_Mutation_p.T20I|FGFR1_ENST00000425967.3_Missense_Mutation_p.T53I|FGFR1_ENST00000326324.6_Missense_Mutation_p.T20I|FGFR1_ENST00000447712.2_Missense_Mutation_p.T20I			P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	20					axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	CGGCCTAGCGGTGCAGAGTGT	0.617000		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""						12	36					0	0	0.001855	0	0
LAMA3	3909	broad.mit.edu	37	18	21364004	21364004	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:21364004G>A	ENST00000313654.9	+	12	1727	c.1486G>A	c.(1486-1488)Gaa>Aaa	p.E496K	LAMA3_ENST00000399516.3_Missense_Mutation_p.E496K	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	496	Domain V.|Laminin EGF-like 4.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGTAATCTGGAAGGTGTTCT	0.517000													39	117					0	0	0.006999	0	0
NUCB1	4924	broad.mit.edu	37	19	49416303	49416303	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:49416303T>A	ENST00000405315.4	+	6	850	c.516T>A	c.(514-516)caT>caA	p.H172Q	NUCB1_ENST00000263273.5_Missense_Mutation_p.H172Q|NUCB1-AS1_ENST00000416432.1_RNA|NUCB1_ENST00000407032.1_Missense_Mutation_p.H172Q|NUCB1_ENST00000485798.1_Intron	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	172						ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		ACGCAGCCCATCATGAAGAGT	0.597000													37	83					0	0	0.007835	0	0
L3MBTL3	84456	broad.mit.edu	37	6	130381273	130381273	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:130381273C>T	ENST00000529410.1	+	12	1331	c.852C>T	c.(850-852)ctC>ctT	p.L284L	L3MBTL3_ENST00000361794.2_Silent_p.L284L|L3MBTL3_ENST00000533560.1_Silent_p.L259L|L3MBTL3_ENST00000526019.1_Silent_p.L259L|L3MBTL3_ENST00000368136.2_Silent_p.L284L|L3MBTL3_ENST00000368139.2_Silent_p.L259L			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	284					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		ACTGTGTCCTCACCGTCGCGG	0.383000													9	10					0	0	0.006214	0	0
AMIGO2	347902	broad.mit.edu	37	12	47472390	47472390	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:47472390C>T	ENST00000266581.4	-	2	862	c.396G>A	c.(394-396)gtG>gtA	p.V132V	AMIGO2_ENST00000321382.3_Silent_p.V132V|AMIGO2_ENST00000429635.1_Silent_p.V132V|AMIGO2_ENST00000550413.1_Silent_p.V132V	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	132					heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					CAGCATTTTTCACCGTCTTCA	0.433000													25	45					0	0	0.003330	0	0
ADH6	130	broad.mit.edu	37	4	100137326	100137326	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:100137326G>A	ENST00000394897.1	-	2	194	c.112C>T	c.(112-114)Cgc>Tgc	p.R38C	RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000407820.2_5'UTR|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000237653.7_Missense_Mutation_p.R38C|ADH6_ENST00000394899.2_Missense_Mutation_p.R38C			P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	38					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	ACCTTTATGCGAACTTCCTTT	0.393000													16	28					0	0	0.004007	0	0
PCSK1	5122	broad.mit.edu	37	5	95757642	95757642	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:95757642C>T	ENST00000311106.3	-	5	799	c.562G>A	c.(562-564)Gat>Aat	p.D188N	CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Missense_Mutation_p.D141N	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	188	Catalytic.				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCATTAAAATCATAGCTAGCC	0.328000													38	93					0	0	0.008740	0	0
CTNNA3	29119	broad.mit.edu	37	10	67726406	67726406	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:67726406C>T	ENST00000433211.1	-	17	2538	c.2364G>A	c.(2362-2364)gaG>gaA	p.E788E	CTNNA3_ENST00000373744.4_Silent_p.E788E|CTNNA3_ENST00000373735.1_Silent_p.E127E	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	788					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						GGTTCTGGATCTCAGCTTTAA	0.463000													19	53					0	0	0.008871	0	0
ARMC4	55130	broad.mit.edu	37	10	28233336	28233336	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:28233336C>T	ENST00000305242.5	-	12	1650	c.1558G>A	c.(1558-1560)Gaa>Aaa	p.E520K	ARMC4_ENST00000537576.1_Missense_Mutation_p.E212K|ARMC4_ENST00000545014.1_Missense_Mutation_p.E45K	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	520							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TGACTGATTTCCTTCAGTATT	0.343000													12	17					0	0	0.000978	0	0
LRCH3	84859	broad.mit.edu	37	3	197557648	197557648	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:197557648G>A	ENST00000438796.2	+	7	939	c.895G>A	c.(895-897)Gaa>Aaa	p.E299K	LRCH3_ENST00000536618.1_5'UTR|LRCH3_ENST00000414675.2_Missense_Mutation_p.E299K|LRCH3_ENST00000425562.2_Missense_Mutation_p.E299K|LRCH3_ENST00000441090.2_Missense_Mutation_p.E173K|LRCH3_ENST00000334859.4_Missense_Mutation_p.E299K|AC055764.1_ENST00000454526.1_RNA			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	299						extracellular region				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		CAGCCATGAAGAACTGTACTC	0.353000													25	80					0	0	0.005443	0	0
NEK8	284086	broad.mit.edu	37	17	27064464	27064464	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:27064464G>A	ENST00000268766.6	+	5	793	c.759G>A	c.(757-759)atG>atA	p.M253I	AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	253	Protein kinase.					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					GCCACATCATGGCACAGCCCC	0.657000													18	35					0	0	0.002780	0	0
SLC25A47	283600	broad.mit.edu	37	14	100793639	100793639	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:100793639G>C	ENST00000361529.3	+	4	337	c.259G>C	c.(259-261)Ggc>Cgc	p.G87R	SLC25A47_ENST00000557052.1_5'UTR	NM_207117.2	NP_997000.2	Q6Q0C1	S2547_HUMAN	solute carrier family 25, member 47	87					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	p.G87S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						GCTCCGGTACGGCAACCCTGA	0.692000													25	55					0	0	0.008361	0	0
VN1R2	317701	broad.mit.edu	37	19	53762570	53762570	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:53762570C>T	ENST00000341702.3	+	1	1026	c.942C>T	c.(940-942)atC>atT	p.I314I	VN1R2_ENST00000598458.1_3'UTR	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	314					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		ACAGAGCCATCCAAAGCATCC	0.468000													38	93					0	0	0.004878	0	0
POLR3B	55703	broad.mit.edu	37	12	106820975	106820975	+	Splice_Site	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:106820975C>T	ENST00000228347.4	+	13	1324	c.1101_splice	c.e13-1	p.L368_splice	POLR3B_ENST00000539066.1_Splice_Site_p.L310_splice|POLR3B_ENST00000549195.1_3'UTR	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	368					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	p.L368F(4)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTTTTTTTAGCTTTTATCTCT	0.274000													3	0					0	0	0.009096	0	0
DOCK10	55619	broad.mit.edu	37	2	225681370	225681370	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:225681370G>A	ENST00000409592.3	-	30	3423	c.3310C>T	c.(3310-3312)Cct>Tct	p.P1104S	DOCK10_ENST00000258390.7_Missense_Mutation_p.P1110S			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1110							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AGACACAAAGGGATAAAGTGT	0.363000													6	14					0	0	0.001168	0	0
ATP2C2	9914	broad.mit.edu	37	16	84486808	84486808	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:84486808G>A	ENST00000416219.2	+	19	1985	c.1896G>A	c.(1894-1896)gtG>gtA	p.V632V	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000262429.4_Silent_p.V632V			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	632					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						TGGACAGCGTGGAGAAGGGCG	0.612000													21	36					0	0	0.010504	0	0
ZNF679	168417	broad.mit.edu	37	7	63727078	63727078	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:63727078A>T	ENST00000421025.1	+	5	1336	c.1067A>T	c.(1066-1068)gAa>gTa	p.E356V	ZNF679_ENST00000255746.4_Missense_Mutation_p.E356V	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	356					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						AAATGTAAAGAATGTGGGAAA	0.393000													5	18					0	0	0.000602	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27998321	27998321	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:27998321C>T	ENST00000441525.1	-	1	1245	c.1131G>A	c.(1129-1131)aaG>aaA	p.K377K		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	377										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						GAGTGAATTTCTTGAGTACTC	0.423000													20	57					0	0	0.007413	0	0
TMEM168	64418	broad.mit.edu	37	7	112423807	112423807	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:112423807C>T	ENST00000312814.5	-	2	1634	c.1074G>A	c.(1072-1074)caG>caA	p.Q358Q	TMEM168_ENST00000454074.1_Silent_p.Q358Q	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	358						integral to membrane|transport vesicle				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						AGAACACCAACTGCTCTGAAA	0.408000													42	152					0	0	0.006230	0	0
GRID1	2894	broad.mit.edu	37	10	87484278	87484278	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:87484278G>A	ENST00000327946.7	-	11	1774	c.1689C>T	c.(1687-1689)ttC>ttT	p.F563F	GRID1_ENST00000536331.1_Silent_p.F134F	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	563						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CCCACACAGCGAAATCAAATG	0.507000										Multiple Myeloma(13;0.14)			18	41					0	0	0.006122	0	0
GORASP2	26003	broad.mit.edu	37	2	171804874	171804874	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:171804874C>T	ENST00000234160.4	+	2	893	c.78C>T	c.(76-78)tcC>tcT	p.S26S	GORASP2_ENST00000452526.2_Silent_p.S38S|GORASP2_ENST00000493692.1_3'UTR	NM_001201428.1|NM_015530.4	NP_001188357.1|NP_056345.3	Q9H8Y8	GORS2_HUMAN	golgi reassembly stacking protein 2, 55kDa	26	PDZ.					Golgi membrane				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						AAGAAAATTCCCCAGGACACA	0.328000													11	36					0	0	0.002450	0	0
COL21A1	81578	broad.mit.edu	37	6	55924020	55924020	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:55924020C>T	ENST00000244728.5	-	29	3026	c.2629G>A	c.(2629-2631)Gaa>Aaa	p.E877K	COL21A1_ENST00000370808.2_Missense_Mutation_p.E243K|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370819.1_Missense_Mutation_p.E874K|COL21A1_ENST00000535941.1_Missense_Mutation_p.E877K	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	877	Collagen-like 6.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.E877K(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CTCCCTTTTTCCCCATTTCTT	0.448000													9	33					0	0	0.000978	0	0
ALB	213	broad.mit.edu	37	4	74283322	74283322	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:74283322G>A	ENST00000295897.4	+	11	1453	c.1364G>A	c.(1363-1365)gGa>gAa	p.G455E	ALB_ENST00000509063.1_Missense_Mutation_p.G455E|ALB_ENST00000401494.3_Missense_Mutation_p.G340E|ALB_ENST00000503124.1_Missense_Mutation_p.G305E|ALB_ENST00000505649.1_Intron|ALB_ENST00000415165.2_Missense_Mutation_p.G263E	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	455	Albumin 3.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	AGAAACCTAGGAAAAGTGGGC	0.358000													18	46					0	0	0.001882	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110424614	110424614	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:110424614G>A	ENST00000378402.5	+	20	2310	c.2206G>A	c.(2206-2208)Gga>Aga	p.G736R		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	736					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)			ACGACCATATGGAGATATTTT	0.343000										HNSCC(38;0.096)			5	16					0	0	0.000602	0	0
KIF21B	23046	broad.mit.edu	37	1	200972904	200972904	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:200972904G>A	ENST00000332129.2	-	8	1338	c.1022C>T	c.(1021-1023)aCc>aTc	p.T341I	KIF21B_ENST00000360529.5_Missense_Mutation_p.T341I|KIF21B_ENST00000422435.2_Missense_Mutation_p.T341I|KIF21B_ENST00000461742.2_Missense_Mutation_p.T341I	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	341					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GATCATGATGGTCTGGCTGGG	0.572000													66	36					0	0	0.003610	0	0
AMZ2P1	201283	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	A	G	rs138671696	by1000genomes	TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:62968690A>G	ENST00000430983.1	-	0	1554					NR_026903.1																						AAAATTCCACAAGTCTCTTGG	0.373000													5	108					0	0	0.000602	0	0
TBR1	10716	broad.mit.edu	37	2	162273129	162273129	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:162273129G>T	ENST00000389554.3	+	1	525	c.208G>T	c.(208-210)Gac>Tac	p.D70Y		NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	70						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						CAATTTTCCTGACTCCAAGGA	0.488000													27	66					7.92952e-12	8.07588e-12	0.003954	1	0
POLN	353497	broad.mit.edu	37	4	2083449	2083449	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:2083449C>T	ENST00000511885.2	-	22	2572	c.2219G>A	c.(2218-2220)gGc>gAc	p.G740D	POLN_ENST00000382865.1_Missense_Mutation_p.G740D			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	740					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			TCTCCTTCTGCCCATGATGGA	0.582000								DNA polymerases (catalytic subunits)					6	28					0	0	0.001168	0	0
ST8SIA5	29906	broad.mit.edu	37	18	44260436	44260436	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:44260436G>A	ENST00000315087.7	-	7	1360	c.700C>T	c.(700-702)Cgc>Tgc	p.R234C	ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.R270C|ST8SIA5_ENST00000536490.1_Missense_Mutation_p.R203C	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	234					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						TGCAGCACGCGATAGAACGGC	0.637000													5	3					0	0	0.000602	0	0
CYFIP1	23191	broad.mit.edu	37	15	22960866	22960866	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:22960866C>T	ENST00000313077.7	+	18	2184	c.2059C>T	c.(2059-2061)Ctg>Ttg	p.L687L	CYFIP1_ENST00000560848.1_Silent_p.L687L|CYFIP1_ENST00000435939.2_Silent_p.L256L	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	687					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		CAAGCAGTTCCTGTACGACGA	0.502000													13	27					0	0	0.002450	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891712	18891712	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:18891712G>A	ENST00000317658.3	+	1	668	c.510G>A	c.(508-510)tgG>tgA	p.W170*		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	170					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				ACGGACTTTGGAAATCTAAAT	0.388000													11	29					0	0	0.008291	0	0
RNASEL	6041	broad.mit.edu	37	1	182555381	182555381	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:182555381G>A	ENST00000367559.3	-	2	814	c.561C>T	c.(559-561)ctC>ctT	p.L187L	RNASEL_ENST00000539397.1_Silent_p.L187L|RNASEL_ENST00000444138.1_Silent_p.L187L	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	187					mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						TCTCATCAAGGAGAATCTTCA	0.517000													22	49					0	0	0.010504	0	0
BCL11A	53335	broad.mit.edu	37	2	60687865	60687865	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:60687865G>A	ENST00000335712.6	-	4	2409	c.2182C>T	c.(2182-2184)Ccg>Tcg	p.P728S	BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000537768.1_Missense_Mutation_p.P397S|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000538214.1_Missense_Mutation_p.P694S|BCL11A_ENST00000358510.4_Missense_Mutation_p.P694S|BCL11A_ENST00000356842.4_Missense_Mutation_p.P728S	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	728					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CCCGGGCCCGGACCACTAATA	0.627000			T	IGH@	B-CLL								109	262					0	0	0.003610	0	0
HYDIN	54768	broad.mit.edu	37	16	70889137	70889137	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:70889137C>T	ENST00000393567.2	-	73	12487	c.12337G>A	c.(12337-12339)Gag>Aag	p.E4113K		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4113										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AACCCCTGCTCCTCCTTGTTA	0.547000													24	69					0	0	0.005443	0	0
SNAP25	6616	broad.mit.edu	37	20	10273610	10273610	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:10273610G>A	ENST00000304886.2	+	5	452	c.244G>A	c.(244-246)Ggg>Agg	p.G82R	SNAP25_ENST00000254976.2_Intron|SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000453544.1_RNA	NM_003081.3	NP_003072.2	P60880	SNP25_HUMAN	synaptosomal-associated protein, 25kDa	82					energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis	cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome				endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	AAAAGATTTAGGGAAATGCTG	0.398000													21	30					0	0	0.003954	0	0
PRKDC	5591	broad.mit.edu	37	8	48801781	48801781	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:48801781G>A	ENST00000314191.2	-	34	4127	c.4071C>T	c.(4069-4071)ctC>ctT	p.L1357L	PRKDC_ENST00000338368.3_Silent_p.L1357L|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1358					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)				CCTTCTTCAGGAGCTGTAACA	0.483000								Non-homologous end-joining					7	19					0	0	0.001984	0	0
ALDH3A1	218	broad.mit.edu	37	17	19646547	19646547	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:19646547G>A	ENST00000457500.2	-	2	721	c.392C>T	c.(391-393)gCa>gTa	p.A131V	ALDH3A1_ENST00000225740.6_Missense_Mutation_p.A131V|ALDH3A1_ENST00000395555.3_Missense_Mutation_p.A131V|ALDH3A1_ENST00000485231.1_5'UTR|ALDH3A1_ENST00000444455.1_Missense_Mutation_p.A131V|ALDH3A1_ENST00000494157.2_Missense_Mutation_p.A58V	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	131					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	CCATGCACCTGCAGCGATGGC	0.642000													12	18					0	0	0.002450	0	0
TRHDE	29953	broad.mit.edu	37	12	73012798	73012798	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:73012798G>A	ENST00000261180.4	+	13	2410	c.2314G>A	c.(2314-2316)Gaa>Aaa	p.E772K		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	772					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GGACCGCATGGAAAACTACAA	0.333000													8	39					0	0	0.004482	0	0
SH3GLB2	56904	broad.mit.edu	37	9	131777081	131777081	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:131777081T>A	ENST00000372564.3	-	4	582	c.437A>T	c.(436-438)aAc>aTc	p.N146I	SH3GLB2_ENST00000372554.4_Missense_Mutation_p.N146I|SH3GLB2_ENST00000417224.1_Missense_Mutation_p.N146I|SH3GLB2_ENST00000416629.1_Missense_Mutation_p.N146I|SH3GLB2_ENST00000372559.1_Missense_Mutation_p.N146I	NM_020145.2	NP_064530.1	Q9NR46	SHLB2_HUMAN	SH3-domain GRB2-like endophilin B2	146	BAR.				filopodium assembly|signal transduction	cytoplasm|nucleus	cytoskeletal adaptor activity|SH3 domain binding			NS(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)	12						CTCCAGGAAGTTGCGCAAGGG	0.562000													30	78					0	0	0.009535	0	0
EHMT1	79813	broad.mit.edu	37	9	140729357	140729357	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:140729357G>A	ENST00000460843.1	+	27	3876	c.3849G>A	c.(3847-3849)gaG>gaA	p.E1283E		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1283					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		AGGCCCAGGAGGACGGCTTGC	0.766000													4	8					0	0	0.009096	0	0
FCER1A	2205	broad.mit.edu	37	1	159273776	159273776	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:159273776G>A	ENST00000368115.1	+	4	234	c.135G>A	c.(133-135)gaG>gaA	p.E45E	FCER1A_ENST00000368114.1_Intron	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	45	Ig-like 1.					integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	TTAAAGGAGAGAATGTGACTC	0.368000													48	34					0	0	0.003610	0	0
NDC80	10403	broad.mit.edu	37	18	2578003	2578003	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:2578003C>T	ENST00000261597.4	+	5	521	c.339C>T	c.(337-339)tcC>tcT	p.S113S	NDC80_ENST00000576274.1_3'UTR	NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	113	Interaction with the N-terminus of CDCA1.|Nuclear localization.				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding			NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						ATAATGTGTCCATGAAATCTC	0.358000													16	39					0	0	0.004007	0	0
MGAT3	4248	broad.mit.edu	37	22	39884071	39884071	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr22:39884071C>T	ENST00000341184.6	+	2	934	c.719C>T	c.(718-720)tCc>tTc	p.S240F		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	240					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					GTGTGCGAGTCCAACTTCACG	0.602000													12	34					0	0	0.000978	0	0
THAP4	51078	broad.mit.edu	37	2	242524126	242524126	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:242524126G>A	ENST00000407315.1	-	6	2060	c.1629C>T	c.(1627-1629)ttC>ttT	p.F543F	THAP4_ENST00000402136.1_Silent_p.F131F|THAP4_ENST00000402545.1_Silent_p.F158F	NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	543							DNA binding|metal ion binding			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		AATTCAGCCTGAACTTCCGGG	0.488000													77	174					0	0	0.003610	0	0
ITSN1	6453	broad.mit.edu	37	21	35237482	35237482	+	Silent	SNP	C	C	G	rs141656361		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr21:35237482C>G	ENST00000381318.3	+	32	4206	c.3918C>G	c.(3916-3918)tcC>tcG	p.S1306S	AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000381285.4_Silent_p.S1306S|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000437442.2_Silent_p.S1301S|ITSN1_ENST00000399367.3_Silent_p.S1301S	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1306	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						AGAAGATGTCCGGGGAGAAGA	0.592000													12	17					0	0	0.001368	0	0
PPFIA2	8499	broad.mit.edu	37	12	81741409	81741409	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:81741409G>A	ENST00000550584.2	-	17	2430	c.2135C>T	c.(2134-2136)tCg>tTg	p.S712L	PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000541017.1_Intron|PPFIA2_ENST00000443686.3_Missense_Mutation_p.S613L|PPFIA2_ENST00000550359.2_Missense_Mutation_p.S559L|PPFIA2_ENST00000549396.1_Missense_Mutation_p.S712L|PPFIA2_ENST00000548586.1_Missense_Mutation_p.S712L|PPFIA2_ENST00000552948.1_Missense_Mutation_p.S712L|PPFIA2_ENST00000407050.4_Missense_Mutation_p.S638L|PPFIA2_ENST00000549325.1_Missense_Mutation_p.S694L|PPFIA2_ENST00000541570.2_Missense_Mutation_p.S279L|PPFIA2_ENST00000333447.7_Missense_Mutation_p.S694L	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	638								p.S712L(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						ACTGGCCAGCGATGAAGCTGT	0.532000													50	106					0	0	0.003610	0	0
EML2	24139	broad.mit.edu	37	19	46119792	46119792	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:46119792G>A	ENST00000536630.1	-	18	2015	c.1877C>T	c.(1876-1878)tCc>tTc	p.S626F	EML2_ENST00000587152.1_Missense_Mutation_p.S680F|EML2_ENST00000245925.3_Missense_Mutation_p.S479F|EML2_ENST00000589876.1_Missense_Mutation_p.S479F	NM_001193269.1	NP_001180198.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	479					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		GTTGTCGTGGGAGCCCACGGC	0.706000													22	38					0	0	0.002780	0	0
NLRC4	58484	broad.mit.edu	37	2	32474961	32474961	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:32474961C>T	ENST00000404025.2	-	5	2460	c.1972G>A	c.(1972-1974)Gaa>Aaa	p.E658K	NLRC4_ENST00000402280.1_Missense_Mutation_p.E658K|NLRC4_ENST00000360906.5_Missense_Mutation_p.E658K|NLRC4_ENST00000342905.6_Intron			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	658					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GTCCTGAATTCCTGCTTCCAG	0.483000													30	106					0	0	0.009535	0	0
CYP4F11	57834	broad.mit.edu	37	19	16024623	16024623	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:16024623G>A	ENST00000402119.3	-	12	1920	c.1494C>T	c.(1492-1494)ccC>ccT	p.P498P	CYP4F11_ENST00000326742.7_3'UTR|CYP4F11_ENST00000248041.7_Silent_p.P498P	NM_021187.3	NP_067010.3	Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	498					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						GTTTCCTGCGGGGTTCAGTGT	0.637000													11	15					0	0	0.008291	0	0
GPR116	221395	broad.mit.edu	37	6	46846012	46846012	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:46846012C>T	ENST00000283296.7	-	10	1455	c.1167G>A	c.(1165-1167)ttG>ttA	p.L389L	GPR116_ENST00000265417.7_Silent_p.L389L|GPR116_ENST00000362015.4_Silent_p.L389L|GPR116_ENST00000456426.2_Intron	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	389	Ig-like 2.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TGCAGCAGTTCAAAGATACAG	0.368000													13	45					0	0	0.002450	0	0
PCNX	22990	broad.mit.edu	37	14	71568710	71568710	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:71568710C>T	ENST00000304743.2	+	31	6039	c.5593C>T	c.(5593-5595)Cat>Tat	p.H1865Y	PCNX_ENST00000439984.3_Missense_Mutation_p.H1754Y|PCNX_ENST00000556272.1_3'UTR|PCNX_ENST00000238570.5_Missense_Mutation_p.H1793Y	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1865						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TATTTAGGATCATTTTACTTC	0.323000													15	26					0	0	0.002450	0	0
ANKRD7	56311	broad.mit.edu	37	7	117876961	117876961	+	Silent	SNP	T	T	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:117876961T>C	ENST00000357099.4	+	6	926	c.753T>C	c.(751-753)ttT>ttC	p.F251F	ANKRD7_ENST00000477532.1_3'UTR|ANKRD7_ENST00000433239.1_Silent_p.F178F|ANKRD7_ENST00000265224.4_Silent_p.F231F|ANKRD7_ENST00000417525.1_Silent_p.F178F			Q92527	ANKR7_HUMAN	ankyrin repeat domain 7	231					male gonad development					breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						GGAATATGTTTATTTCCATGG	0.398000													55	165					0	0	0.003610	0	0
SH3TC1	54436	broad.mit.edu	37	4	8239372	8239372	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:8239372G>A	ENST00000539824.1	+	17	3874	c.3500G>A	c.(3499-3501)gGt>gAt	p.G1167D	SH3TC1_ENST00000245105.3_Missense_Mutation_p.G1243D			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	1243							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CTGGTGCTCGGTGACATCATC	0.617000													9	26					0	0	0.000978	0	0
LPIN3	64900	broad.mit.edu	37	20	39981294	39981294	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:39981294C>T	ENST00000373257.3	+	10	1503	c.1412C>T	c.(1411-1413)cCc>cTc	p.P471L		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	471					fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				ACCAAAAACCCCGGACTTTTG	0.542000													66	195					0	0	0.003610	0	0
VIL1	7429	broad.mit.edu	37	2	219299275	219299275	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:219299275G>A	ENST00000248444.5	+	14	1615	c.1527G>A	c.(1525-1527)ttG>ttA	p.L509L	VIL1_ENST00000392114.2_Silent_p.L198L	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	509	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTAACAACTTGGAGACCGGGC	0.577000													25	55					0	0	0.006320	0	0
NLRP2	55655	broad.mit.edu	37	19	55494523	55494523	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:55494523G>A	ENST00000543010.1	+	6	1600	c.1457G>A	c.(1456-1458)gGa>gAa	p.G486E	NLRP2_ENST00000537859.1_Missense_Mutation_p.G464E|NLRP2_ENST00000448584.2_Missense_Mutation_p.G486E|NLRP2_ENST00000339757.7_Missense_Mutation_p.G464E|NLRP2_ENST00000427260.2_Missense_Mutation_p.G463E|NLRP2_ENST00000538819.1_Missense_Mutation_p.G462E|NLRP2_ENST00000391721.4_Missense_Mutation_p.G462E|NLRP2_ENST00000263437.6_Missense_Mutation_p.G483E	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	486	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TTCCTGGACGGAGACATCCTC	0.617000													22	39					0	0	0.001882	0	0
ASB16	92591	broad.mit.edu	37	17	42249505	42249505	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:42249505C>T	ENST00000293414.1	+	2	477	c.393C>T	c.(391-393)atC>atT	p.I131I		NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	131					intracellular signal transduction		protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GACACCTGATCCGGCAGGGAG	0.652000													33	58					0	0	0.002836	0	0
RYR3	6263	broad.mit.edu	37	15	33873807	33873807	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:33873807C>T	ENST00000389232.4	+	14	1606	c.1536C>T	c.(1534-1536)gcC>gcT	p.A512A	RYR3_ENST00000415757.3_Silent_p.A512A	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	512					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GTGGCATGGCCTGGAAAGAAA	0.468000													18	54					0	0	0.008871	0	0
SLC44A5	204962	broad.mit.edu	37	1	75672358	75672358	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:75672358G>A	ENST00000370855.5	-	24	2207	c.2094C>T	c.(2092-2094)ttC>ttT	p.F698F	SLC44A5_ENST00000370859.3_Intron|SLC44A5_ENST00000535611.1_Silent_p.F568F	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	698						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						TAGGGGTTACGAAGTAGGGTT	0.413000													20	65					0	0	0.002299	0	0
SUSD2	56241	broad.mit.edu	37	22	24579589	24579589	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr22:24579589C>T	ENST00000358321.3	+	3	675	c.414C>T	c.(412-414)ttC>ttT	p.F138F		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	138					immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						GCCACTCCTTCCCTCGTGCGG	0.637000													13	43					0	0	0.001368	0	0
LRP1B	53353	broad.mit.edu	37	2	141986902	141986902	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:141986902C>T	ENST00000389484.3	-	6	1671	c.700G>A	c.(700-702)Gaa>Aaa	p.E234K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	234					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTATGAATTTCATTTCCATTG	0.294000										TSP Lung(27;0.18)			10	33					0	0	0.008291	0	0
AQP2	359	broad.mit.edu	37	12	50349313	50349313	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:50349313G>A	ENST00000199280.3	+	4	823	c.738G>A	c.(736-738)tgG>tgA	p.W246*	RP11-469H8.6_ENST00000550530.1_RNA|RP11-469H8.8_ENST00000552806.1_RNA|RP11-469H8.6_ENST00000552379.1_RNA	NM_000486.5	NP_000477.1	P41181	AQP2_HUMAN	aquaporin 2 (collecting duct)	246					cellular response to copper ion|cellular response to mercury ion|excretion	apical plasma membrane|integral to membrane|transport vesicle membrane	glycerol transmembrane transporter activity|water channel activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						ACACCGATTGGGAGGAGCGCG	0.692000													12	14					0	0	0.001855	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159819566	159819566	+	RNA	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:159819566G>A	ENST00000497452.1	-	0	517																											AGAGAGAGCAGGAGCATCTTG	0.433000													92	152					0	0	0.003610	0	0
DENND4A	10260	broad.mit.edu	37	15	66048611	66048611	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:66048611G>A	ENST00000443035.3	-	3	393	c.178C>T	c.(178-180)Cca>Tca	p.P60S	DENND4A_ENST00000431932.2_Missense_Mutation_p.P60S	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	60	MABP.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TAATCCTGTGGGACTTCCTCC	0.373000													12	11					0	0	0.000978	0	0
CRB2	286204	broad.mit.edu	37	9	126128261	126128261	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:126128261C>T	ENST00000373631.3	+	3	485	c.484C>T	c.(484-486)Ctg>Ttg	p.L162L	CRB2_ENST00000359999.3_Silent_p.L162L	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	162	EGF-like 3; calcium-binding (Potential).					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						GGGCTCGTGCCTGGACGGCGT	0.706000													8	15					0	0	0.004482	0	0
ERLIN2	11160	broad.mit.edu	37	8	37601891	37601891	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:37601891C>T	ENST00000276461.5	+	5	322	c.255C>T	c.(253-255)taC>taT	p.Y85Y	ERLIN2_ENST00000518586.1_Silent_p.Y85Y|ERLIN2_ENST00000397228.2_Silent_p.Y85Y|ERLIN2_ENST00000335171.6_Silent_p.Y85Y|ERLIN2_ENST00000519638.1_Silent_p.Y85Y|ERLIN2_ENST00000523107.1_Silent_p.Y85Y|ERLIN2_ENST00000523887.1_Silent_p.Y85Y	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	ER lipid raft associated 2	85					ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding			NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			TGATGATCTACTTTGACAGAA	0.507000													72	179					0	0	0.003610	0	0
MYH10	4628	broad.mit.edu	37	17	8409749	8409749	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:8409749G>A	ENST00000360416.3	-	27	3411	c.3273C>T	c.(3271-3273)ctC>ctT	p.L1091L	MYH10_ENST00000396239.1_Silent_p.L1081L|MYH10_ENST00000379980.4_Silent_p.L1076L|MYH10_ENST00000269243.4_Silent_p.L1060L	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1060					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TCTCCCCGTCGAGTTTTCTTT	0.517000													31	88					0	0	0.002096	0	0
NUP210	23225	broad.mit.edu	37	3	13367352	13367352	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:13367352G>A	ENST00000254508.5	-	33	4669	c.4587C>T	c.(4585-4587)gcC>gcT	p.A1529A		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1529					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CGGATCCCACGGCCCGGGCCA	0.632000													35	85					0	0	0.006230	0	0
SYT10	341359	broad.mit.edu	37	12	33560282	33560282	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:33560282G>A	ENST00000228567.3	-	3	815	c.519C>T	c.(517-519)tcC>tcT	p.S173S	SYT10_ENST00000535526.1_5'UTR	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	173						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					GTCTTCGGAAGGAACTGTGGC	0.438000													22	53					0	0	0.002780	0	0
VIPR2	7434	broad.mit.edu	37	7	158896545	158896545	+	Splice_Site	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:158896545C>T	ENST00000262178.2	-	4	445	c.259_splice	c.e4-1	p.G87_splice	VIPR2_ENST00000402066.1_Splice_Site_p.G228_splice	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	87					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)		GCTTATGTTTCCTGGAAAGTG	0.478000													18	57					0	0	0.004990	0	0
AFAP1	60312	broad.mit.edu	37	4	7787987	7787987	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:7787987G>A	ENST00000420658.1	-	12	1736	c.1464C>T	c.(1462-1464)tcC>tcT	p.S488S	AFAP1_ENST00000358461.2_Silent_p.S488S|AFAP1_ENST00000382543.3_Silent_p.S488S|AFAP1_ENST00000513842.1_5'UTR|AFAP1_ENST00000360265.4_Silent_p.S488S	NM_001134647.1	NP_001128119.1	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	488						actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						CATAGCCGTTGGAGGTGCCCC	0.483000													41	83					0	0	0.002852	0	0
MCHR2	84539	broad.mit.edu	37	6	100368879	100368879	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:100368879G>A	ENST00000281806.2	-	6	1274	c.960C>T	c.(958-960)atC>atT	p.I320I	MCHR2_ENST00000369212.1_Silent_p.I320I|MCHR2_ENST00000445970.1_Silent_p.I320I	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	320						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		CTCTTCTTTGGATTTGAGGCA	0.423000													33	37					0	0	0.002836	0	0
CHD4	1108	broad.mit.edu	37	12	6687655	6687655	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:6687655G>A	ENST00000309577.6	-	34	5286	c.5123C>T	c.(5122-5124)cCc>cTc	p.P1708L	CHD4_ENST00000544484.1_Missense_Mutation_p.P1705L|CHD4_ENST00000357008.2_Missense_Mutation_p.P1680L|CHD4_ENST00000544040.1_Missense_Mutation_p.P1673L			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1680	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						CAGGTCCTTGGGGGTCTCTCC	0.408000													22	28					0	0	0.001882	0	0
BTBD8	284697	broad.mit.edu	37	1	92568184	92568184	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:92568184C>T	ENST00000370382.3	+	3	769	c.502C>T	c.(502-504)Cca>Tca	p.P168S	BTBD8_ENST00000540648.1_Missense_Mutation_p.P168S|BTBD8_ENST00000342818.3_Missense_Mutation_p.P168S			Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	168						nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		GCATGAAATTCCAGAGGATAT	0.328000													17	28					0	0	0.006122	0	0
HHIP	64399	broad.mit.edu	37	4	145567906	145567906	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:145567906G>A	ENST00000296575.3	+	1	734	c.79G>A	c.(79-81)Gaa>Aaa	p.E27K	HHIP_ENST00000434550.2_Missense_Mutation_p.E27K|HHIP-AS1_ENST00000512359.1_RNA	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	27						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		TAAGTTTGGGGAAAGAAACGA	0.572000													24	73					0	0	0.003330	0	0
SPDYE1	285955	broad.mit.edu	37	7	44046923	44046923	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:44046923A>G	ENST00000258704.3	+	5	826	c.689A>G	c.(688-690)cAc>cGc	p.H230R	AC004951.6_ENST00000447643.1_RNA|POLR2J4_ENST00000427076.1_RNA	NM_001099435.2|NM_175064.2	NP_001092905.2|NP_778234.2	Q8NFV5	SPDE1_HUMAN	speedy/RINGO cell cycle regulator family member E1	230										endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	11						AACATCTTCCACTTCCTGTAT	0.557000													81	164					0	0	0.003610	0	0
FRG2B	441581	broad.mit.edu	37	10	135440236	135440236	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:135440236C>T	ENST00000443774.1	-	1	60	c.11G>A	c.(10-12)gGa>gAa	p.G4E	FRG2B_ENST00000425520.1_Missense_Mutation_p.G4E			Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	4						nucleus		p.G4V(1)		endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		GTCTTCATTTCCCTTTCCCAT	0.522000													12	232					0	0	0.002450	0	0
TNFRSF21	27242	broad.mit.edu	37	6	47253756	47253756	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:47253756G>A	ENST00000296861.2	-	2	1065	c.672C>T	c.(670-672)tcC>tcT	p.S224S		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	224					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			CTGTGCCAGGGGAAGGTGAGG	0.527000													19	35					0	0	0.007413	0	0
PCDHB1	29930	broad.mit.edu	37	5	140433112	140433112	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:140433112C>T	ENST00000306549.3	+	1	2134	c.2057C>T	c.(2056-2058)cCa>cTa	p.P686L		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		686					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAGGTAAATCCATCCACTAAA	0.408000													33	98					0	0	0.002836	0	0
SH3TC1	54436	broad.mit.edu	37	4	8229590	8229590	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:8229590C>T	ENST00000539824.1	+	12	2315	c.1941C>T	c.(1939-1941)ccC>ccT	p.P647P	SH3TC1_ENST00000245105.3_Silent_p.P723P			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	723							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						AGTGCCTGCCCCACCTGGTGC	0.657000													22	54					0	0	0.004656	0	0
RYR1	6261	broad.mit.edu	37	19	38976641	38976641	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:38976641C>T	ENST00000355481.4	+	34	5477	c.5346C>T	c.(5344-5346)ttC>ttT	p.F1782F	RYR1_ENST00000360985.3_Silent_p.F1782F|RYR1_ENST00000359596.3_Silent_p.F1782F	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1782	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCCCCTGTTTCGTGGCCGCTC	0.682000													25	33					0	0	0.003954	0	0
CALCRL	10203	broad.mit.edu	37	2	188223828	188223828	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:188223828G>A	ENST00000409998.1	-	13	1652	c.871C>T	c.(871-873)Ctc>Ttc	p.L291F	CALCRL_ENST00000392370.3_Missense_Mutation_p.L291F|AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000410068.1_Missense_Mutation_p.L291F|AC007319.1_ENST00000412276.1_RNA			Q16602	CALRL_HUMAN	calcitonin receptor-like	291						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			ATAATGTAGAGGAGATGGGTA	0.313000													43	71					0	0	0.002852	0	0
REEP5	7905	broad.mit.edu	37	5	112222717	112222717	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:112222717T>A	ENST00000379638.4	-	4	863	c.515A>T	c.(514-516)aAa>aTa	p.K172I	SRP19_ENST00000512790.1_Intron|REEP5_ENST00000474542.2_5'UTR|REEP5_ENST00000513339.1_Intron|REEP5_ENST00000504247.1_3'UTR|REEP5_ENST00000545426.1_3'UTR	NM_005669.4	NP_005660.4	Q00765	REEP5_HUMAN	receptor accessory protein 5	172						integral to membrane	protein binding			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		Epithelial(69;1.3e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.26e-08)|all cancers(49;3.56e-07)|Colorectal(14;0.00778)|COAD - Colon adenocarcinoma(37;0.013)		CTTACCTTCTTTAGTGATGGC	0.498000													27	62					0	0	0.006320	0	0
SLC10A2	6555	broad.mit.edu	37	13	103703705	103703705	+	Silent	SNP	G	G	A	rs140751551		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr13:103703705G>A	ENST00000245312.3	-	4	1259	c.663C>T	c.(661-663)atC>atT	p.I221I		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	221					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity	p.I221I(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TGGGAGCAATGATCCAGGCGC	0.478000													21	46					0	0	0.002299	0	0
INSRR	3645	broad.mit.edu	37	1	156823895	156823895	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:156823895C>T	ENST00000368195.3	-	2	682	c.286G>A	c.(286-288)Gac>Aac	p.D96N	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	96					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGGAAGAGGTCGCGCAGGCTC	0.637000													17	74					0	0	0.004007	0	0
PRUNE2	158471	broad.mit.edu	37	9	79438604	79438604	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:79438604C>T	ENST00000376718.3	-	6	823	c.700G>A	c.(700-702)Gag>Aag	p.E234K	PRUNE2_ENST00000376713.3_Missense_Mutation_p.E234K|PRUNE2_ENST00000428286.1_5'UTR	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	234					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCTGACAGCTCCTTTAGATCT	0.348000													11	51					0	0	0.000978	0	0
GTF2H3	2967	broad.mit.edu	37	12	124139515	124139515	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:124139515C>T	ENST00000543341.2	+	8	562	c.531C>T	c.(529-531)ttC>ttT	p.F177F	GTF2H3_ENST00000228955.7_Silent_p.F136F	NM_001271867.1|NM_001516.3	NP_001258796.1|NP_001507.2	Q13889	TF2H3_HUMAN	general transcription factor IIH, polypeptide 3, 34kDa	177					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	core TFIIH complex|holo TFIIH complex	damaged DNA binding|metal ion binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362)		ATATGAACTTCATGAATGTCA	0.413000								Nucleotide excision repair (NER)					10	32					0	0	0.001855	0	0
KCNQ3	3786	broad.mit.edu	37	8	133492557	133492557	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:133492557C>T	ENST00000388996.4	-	1	643	c.223G>A	c.(223-225)Gac>Aac	p.D75N	KCNQ3_ENST00000519445.1_Missense_Mutation_p.D75N	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	75					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TGCCCCTCGTCGCGGCCGCCG	0.711000													3	8					0	0	0.009096	0	0
CXXC11	285093	broad.mit.edu	37	2	242814397	242814397	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:242814397C>T	ENST00000343216.3	+	2	718	c.690C>T	c.(688-690)ctC>ctT	p.L230L		NM_173821.2	NP_776182.2	Q14D33	CB085_HUMAN	CXXC finger protein 11	230						integral to membrane											GGGCCTCTCTCCCTGTGACTG	0.662000													10	32					0	0	0.008291	0	0
ZBBX	79740	broad.mit.edu	37	3	167016198	167016198	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:167016198G>A	ENST00000392766.2	-	18	2114	c.1774C>T	c.(1774-1776)Caa>Taa	p.Q592*	ZBBX_ENST00000455345.2_Nonsense_Mutation_p.Q592*|ZBBX_ENST00000392764.1_Nonsense_Mutation_p.Q563*|ZBBX_ENST00000392767.2_Nonsense_Mutation_p.Q592*|ZBBX_ENST00000307529.5_Nonsense_Mutation_p.Q592*	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	592						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TCAAGTCCTTGATATTGTTTT	0.299000													19	88					0	0	0.010504	0	0
MYEF2	50804	broad.mit.edu	37	15	48451941	48451941	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:48451941C>T	ENST00000324324.7	-	6	865	c.586G>A	c.(586-588)Gga>Aga	p.G196R	MYEF2_ENST00000267836.6_Missense_Mutation_p.G196R	NM_016132.3	NP_057216.2	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	196					transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		GGGACGTGTCCTCCTGGAAAT	0.433000													9	19					0	0	0.004482	0	0
NPC1L1	29881	broad.mit.edu	37	7	44561318	44561318	+	Silent	SNP	C	C	T	rs143499989	byFrequency	TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:44561318C>T	ENST00000289547.4	-	12	3001	c.2946G>A	c.(2944-2946)tcG>tcA	p.S982S	NPC1L1_ENST00000381160.3_Silent_p.S982S|NPC1L1_ENST00000546276.1_Silent_p.S936S	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	982					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CACTGACGGTCGAGGGGCAGA	0.587000													17	57					0	0	0.006122	0	0
LOC101927079	101927079	broad.mit.edu	37	15	22332492	22332492	+	RNA	SNP	A	A	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:22332492A>C	ENST00000558896.1	+	0	299																											TATTTCTCTTATTACTATTTT	0.383000													3	68					0	0	0.009096	0	0
EPHA7	2045	broad.mit.edu	37	6	93974317	93974317	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:93974317C>T	ENST00000369303.4	-	8	1921	c.1737G>A	c.(1735-1737)ggG>ggA	p.G579G		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	579						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TCTACCTTCTCCCAATGATGA	0.348000													17	21					0	0	0.006122	0	0
STT3A	3703	broad.mit.edu	37	11	125479396	125479396	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:125479396C>T	ENST00000392708.4	+	10	1188	c.1029C>T	c.(1027-1029)atC>atT	p.I343I	STT3A_ENST00000531491.1_Silent_p.I251I|STT3A_ENST00000529196.1_Silent_p.I343I	NM_001278503.1|NM_001278504.1|NM_152713.3	NP_001265432.1|NP_001265433.1|NP_689926.1	P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	343					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		AGAACAACATCCCCATCATTG	0.483000													34	65					0	0	0.002836	0	0
TMEM198	130612	broad.mit.edu	37	2	220409514	220409514	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:220409514G>A	ENST00000344458.2	+	3	650	c.65G>A	c.(64-66)tGg>tAg	p.W22*	TMEM198_ENST00000373883.3_Nonsense_Mutation_p.W22*			Q66K66	TM198_HUMAN	transmembrane protein 198	22						integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GATGCCTTCTGGGGTGCACCT	0.592000													23	45					0	0	0.002299	0	0
EGFLAM	133584	broad.mit.edu	37	5	38431358	38431358	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:38431358G>A	ENST00000322350.5	+	15	2480	c.2134G>A	c.(2134-2136)Gat>Aat	p.D712N	EGFLAM_ENST00000354891.3_Missense_Mutation_p.D712N|EGFLAM_ENST00000397202.2_Missense_Mutation_p.D78N|EGFLAM_ENST00000336740.6_Missense_Mutation_p.D478N	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	712	Laminin G-like 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CTTACAGGTGGATAAGCAGAA	0.478000													10	36					0	0	0.008291	0	0
CDHR1	92211	broad.mit.edu	37	10	85960389	85960389	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:85960389C>T	ENST00000372117.3	+	6	574	c.471C>T	c.(469-471)gtC>gtT	p.V157V	CDHR1_ENST00000332904.3_Silent_p.V157V	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	157	Cadherin 2.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						TCTTTAAGGTCCATGCAGTGG	0.597000													9	9					0	0	0.008291	0	0
TRANK1	9881	broad.mit.edu	37	3	36897228	36897228	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:36897228C>T	ENST00000301807.6	-	12	4100	c.2203G>A	c.(2203-2205)Gaa>Aaa	p.E735K	TRANK1_ENST00000428977.2_Missense_Mutation_p.E735K|TRANK1_ENST00000429976.2_Missense_Mutation_p.E1285K	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1285					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	p.E735K(2)|p.E1285K(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GGCCATATTTCATTTTTGAAC	0.468000													50	118					0	0	0.003610	0	0
OR2F2	135948	broad.mit.edu	37	7	143633090	143633090	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:143633090G>A	ENST00000408955.2	+	1	832	c.765G>A	c.(763-765)acG>acA	p.T255T		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					ACGGCACAACGATTTTCACTT	0.512000													25	81					0	0	0.005443	0	0
RCL1	10171	broad.mit.edu	37	9	4844532	4844532	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:4844532G>A	ENST00000381750.4	+	7	941	c.718G>A	c.(718-720)Ggc>Agc	p.G240S	RCL1_ENST00000381728.1_Missense_Mutation_p.G54S|RCL1_ENST00000448872.2_Missense_Mutation_p.G54S|RCL1_ENST00000381730.1_Missense_Mutation_p.G54S	NM_005772.3	NP_005763.3	Q9Y2P8	RCL1_HUMAN	RNA terminal phosphate cyclase-like 1	240					ribosome biogenesis|RNA processing	nucleolus	RNA-3'-phosphate cyclase activity	p.G240C(1)		breast(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0244)		CAGGTCTCCGGGCTTTGGGTT	0.517000													23	74					0	0	0.002780	0	0
KLHL5	51088	broad.mit.edu	37	4	39064637	39064637	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:39064637C>T	ENST00000261425.3	+	2	517	c.365C>T	c.(364-366)tCt>tTt	p.S122F	KLHL5_ENST00000359687.2_Missense_Mutation_p.S168F|KLHL5_ENST00000508137.2_Intron|KLHL5_ENST00000261426.5_Missense_Mutation_p.S168F|KLHL5_ENST00000504108.1_Missense_Mutation_p.S168F|KLHL5_ENST00000381930.3_Missense_Mutation_p.S168F	NM_001007075.2	NP_001007076.1	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	168						cytoplasm|cytoskeleton	actin binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						GAAAATGAATCTGATTCCAGT	0.378000													29	64					0	0	0.002096	0	0
VCP	7415	broad.mit.edu	37	9	35068289	35068289	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:35068289C>T	ENST00000358901.6	-	2	983	c.88G>A	c.(88-90)Gaa>Aaa	p.E30K		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	30					activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TTGATGGCTTCATCAACAATT	0.453000													117	113					0	0	0.003610	0	0
FLG	2312	broad.mit.edu	37	1	152283121	152283121	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:152283121C>T	ENST00000368799.1	-	3	4276	c.4241G>A	c.(4240-4242)gGa>gAa	p.G1414E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1414	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCAGCTTGTCCGTGGGCTGA	0.567000									Ichthyosis				104	433					0	0	0.003610	0	0
CXorf22	170063	broad.mit.edu	37	X	35993312	35993312	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:35993312C>A	ENST00000297866.5	+	14	2369	c.2303C>A	c.(2302-2304)aCt>aAt	p.T768N		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	768										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TCTCCAAATACTCATCTACTT	0.328000													26	65					1.17739e-12	1.20026e-12	0.005443	1	0
OR52I2	143502	broad.mit.edu	37	11	4608150	4608150	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:4608150G>A	ENST00000312614.4	+	1	130	c.108G>A	c.(106-108)atG>atA	p.M36I		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACCACACAATGGAAACCCCTG	0.453000													35	47					0	0	0.006999	0	0
MICU2	221154	broad.mit.edu	37	13	22096766	22096766	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr13:22096766G>A	ENST00000382374.4	-	5	555	c.490C>T	c.(490-492)Ctt>Ttt	p.L164F		NM_152726.2	NP_689939.1			mitochondrial calcium uptake 2																		AGCAAGAAAAGATACTCGGTA	0.323000													13	30					0	0	0.004007	0	0
DLEC1	9940	broad.mit.edu	37	3	38104270	38104270	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:38104270C>T	ENST00000308059.6	+	5	1093	c.1072C>T	c.(1072-1074)Cag>Tag	p.Q358*	DLEC1_ENST00000346219.3_Nonsense_Mutation_p.Q358*|DLEC1_ENST00000469151.1_3'UTR|DLEC1_ENST00000452631.2_Nonsense_Mutation_p.Q358*			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	358					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		AGGAGAATTCCAGAGTACAGA	0.468000													9	38					0	0	0.004482	0	0
GDF2	2658	broad.mit.edu	37	10	48413649	48413649	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:48413649C>T	ENST00000249598.1	-	2	1378	c.1219G>A	c.(1219-1221)Gat>Aat	p.D407N		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	407					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						CCCATGTCATCCTTGTAGAGG	0.612000													6	22					0	0	0.001168	0	0
FLNA	2316	broad.mit.edu	37	X	153577218	153577218	+	Nonstop_Mutation	SNP	C	C	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:153577218C>A	ENST00000422373.1	-	47	8167	c.7919G>T	c.(7918-7920)tGa>tTa	p.*2640L	FLNA_ENST00000369856.3_Nonstop_Mutation_p.*781L|FLNA_ENST00000344736.4_Nonstop_Mutation_p.*2608L|FLNA_ENST00000360319.4_Nonstop_Mutation_p.*2640L|FLNA_ENST00000369850.3_Nonstop_Mutation_p.*2648L	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	0	Self-association site, tail.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCCCCAGACTCAGGGCACCAC	0.701000													22	33					3.28513e-13	3.35052e-13	0.003954	1	0
THSD7B	80731	broad.mit.edu	37	2	138163337	138163337	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:138163337G>A	ENST00000409968.1	+	13	2833	c.2655G>A	c.(2653-2655)acG>acA	p.T885T	THSD7B_ENST00000272643.3_Silent_p.T885T|THSD7B_ENST00000413152.2_Silent_p.T854T|THSD7B_ENST00000543459.1_Intron					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CCTGCTCCACGAACTGTGAAG	0.498000													6	12					0	0	0.003080	0	0
SLC30A8	169026	broad.mit.edu	37	8	118183386	118183386	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:118183386C>T	ENST00000427715.2	+	10	1230	c.796C>T	c.(796-798)Ctc>Ttc	p.L266F	SLC30A8_ENST00000456015.2_Missense_Mutation_p.L315F|SLC30A8_ENST00000519688.1_Missense_Mutation_p.L266F|SLC30A8_ENST00000521243.1_Missense_Mutation_p.L266F	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	315					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity	p.L315I(1)		breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			TCAAGTAATTCTCTCAGCTCA	0.423000													118	356					0	0	0.003610	0	0
CRB1	23418	broad.mit.edu	37	1	197390638	197390638	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:197390638C>T	ENST00000367400.3	+	6	1815	c.1680C>T	c.(1678-1680)caC>caT	p.H560H	CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000367399.2_Silent_p.H448H|CRB1_ENST00000543483.1_Silent_p.H259H|CRB1_ENST00000535699.1_Silent_p.H491H|CRB1_ENST00000538660.1_Silent_p.H560H|CRB1_ENST00000544212.1_Silent_p.H41H	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	560	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TCATTTCCCACAACACCAGCG	0.463000													30	45					0	0	0.009535	0	0
OR2A5	393046	broad.mit.edu	37	7	143748028	143748028	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:143748028C>T	ENST00000408906.2	+	1	568	c.534C>T	c.(532-534)ttC>ttT	p.F178F		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					ACCACTTCTTCTGTGAAATCC	0.552000													66	244					0	0	0.003610	0	0
PNPLA8	50640	broad.mit.edu	37	7	108143006	108143006	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:108143006G>A	ENST00000426128.2	-	4	1412	c.1287C>T	c.(1285-1287)gcC>gcT	p.A429A	PNPLA8_ENST00000257694.8_Silent_p.A429A|PNPLA8_ENST00000436062.1_Silent_p.A429A|PNPLA8_ENST00000453144.1_Silent_p.A329A|PNPLA8_ENST00000422087.1_Silent_p.A429A|PNPLA8_ENST00000483879.1_5'UTR|PNPLA8_ENST00000388728.5_Silent_p.A429A	NM_001256009.1	NP_001242938.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	429					fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						AGCCAATTAGGGCCAAAATTT	0.368000													19	48					0	0	0.007413	0	0
BEND4	389206	broad.mit.edu	37	4	42145655	42145655	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:42145655G>A	ENST00000502486.1	-	3	1423	c.844C>T	c.(844-846)Ctg>Ttg	p.L282L	BEND4_ENST00000504360.1_Silent_p.L278L	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	282										NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						GAGGTTGACAGAGGATCCACG	0.527000													11	17					0	0	0.008291	0	0
AAED1	195827	broad.mit.edu	37	9	99408285	99408285	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:99408285G>A	ENST00000375234.3	-	5	442	c.443C>T	c.(442-444)tCa>tTa	p.S148L	AAED1_ENST00000464512.1_5'UTR	NM_153698.1	NP_714542.1	Q7RTV5	CI021_HUMAN	AhpC/TSA antioxidant enzyme domain containing 1	148							antioxidant activity|oxidoreductase activity										GAGTAGATTTGATTTTATGTG	0.408000													16	53					0	0	0.004990	0	0
C3	718	broad.mit.edu	37	19	6707508	6707508	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:6707508G>A	ENST00000245907.6	-	16	2108	c.2016C>T	c.(2014-2016)tcC>tcT	p.S672S		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	672					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TGAGCTGCACGGAACGGCGTC	0.667000													37	64					0	0	0.003610	0	0
SPOCD1	90853	broad.mit.edu	37	1	32259361	32259361	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:32259361C>T	ENST00000360482.2	-	12	2650	c.2521G>A	c.(2521-2523)Gaa>Aaa	p.E841K	SPOCD1_ENST00000533231.1_Missense_Mutation_p.E841K|SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000257100.3_Missense_Mutation_p.E334K	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	841					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		TCCTGTGGTTCCGTGGGAGAC	0.582000													30	72					0	0	0.008361	0	0
TRIML2	205860	broad.mit.edu	37	4	189013014	189013014	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:189013014C>T	ENST00000512729.1	-	7	1051	c.677G>A	c.(676-678)gGg>gAg	p.G226E	TRIML2_ENST00000326754.3_Missense_Mutation_p.G251E	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	226	B30.2/SPRY.						ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		ATCCTGCTGCCCATGTCTCAA	0.532000													34	67					0	0	0.002836	0	0
CDH23	64072	broad.mit.edu	37	10	73330619	73330619	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:73330619G>A	ENST00000224721.6	+	7	717	c.712G>A	c.(712-714)Gac>Aac	p.D238N	CDH23_ENST00000299366.7_Missense_Mutation_p.D278N|CDH23_ENST00000461841.3_Missense_Mutation_p.D278N|CDH23_ENST00000398809.4_Missense_Mutation_p.D233N|CDH23_ENST00000398842.3_Missense_Mutation_p.D233N	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	233	Cadherin 3.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CCAGGACATGGACCCCATCTT	0.537000											OREG0020254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	25					0	0	0.006320	0	0
ACTL7A	10881	broad.mit.edu	37	9	111624689	111624689	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:111624689G>A	ENST00000333999.3	+	1	87	c.87G>A	c.(85-87)caG>caA	p.Q29Q		NM_006687.2	NP_006678.1	Q9Y615	ACL7A_HUMAN	actin-like 7A	29						cytoplasm|cytoskeleton|protein complex	structural constituent of cytoskeleton			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AGGCCCTCCAGACTGCCTCTT	0.612000													16	42					0	0	0.006122	0	0
CACNA1F	778	broad.mit.edu	37	X	49072916	49072916	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:49072916A>C	ENST00000376265.2	-	27	3256	c.3195T>G	c.(3193-3195)agT>agG	p.S1065R	CACNA1F_ENST00000376251.1_Missense_Mutation_p.S1000R|CACNA1F_ENST00000323022.5_Missense_Mutation_p.S1054R	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1065	Dihydropyridine binding (By similarity).				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	AGTTGAAATCACTGTTGACCC	0.567000													12	26					0	0	0.001368	0	0
OR5D13	390142	broad.mit.edu	37	11	55541375	55541375	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:55541375G>A	ENST00000361760.1	+	1	462	c.462G>A	c.(460-462)ggG>ggA	p.G154G		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				ATACATGGGGGATAGTGTGCT	0.398000													60	71					0	0	0.003610	0	0
OTOF	9381	broad.mit.edu	37	2	26693463	26693463	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:26693463C>T	ENST00000272371.2	-	32	4147	c.4021G>A	c.(4021-4023)Gag>Aag	p.E1341K	OTOF_ENST00000402415.3_Missense_Mutation_p.E651K|OTOF_ENST00000403946.3_Missense_Mutation_p.E1341K|OTOF_ENST00000339598.3_Missense_Mutation_p.E574K|OTOF_ENST00000338581.6_Missense_Mutation_p.E574K	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1341					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTCTCACCTCCTTCATGGTG	0.602000													52	80					0	0	0.003610	0	0
UNC5A	90249	broad.mit.edu	37	5	176305340	176305340	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:176305340C>T	ENST00000329542.4	+	12	2239	c.1965C>T	c.(1963-1965)tcC>tcT	p.S655S	UNC5A_ENST00000261961.3_Silent_p.S615S	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	655					apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGCGCCTATCCATCCACGATG	0.622000													51	65					0	0	0.003610	0	0
NREP	9315	broad.mit.edu	37	5	111066701	111066701	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:111066701C>T	ENST00000379671.3	-	5	388	c.124G>A	c.(124-126)Gat>Aat	p.D42N	NREP_ENST00000515855.1_3'UTR|NREP_ENST00000395634.3_Missense_Mutation_p.D86N|NREP_ENST00000257435.7_Missense_Mutation_p.D42N|NREP_ENST00000509979.1_3'UTR|STARD4-AS1_ENST00000500779.2_RNA|NREP_ENST00000455559.2_Missense_Mutation_p.D42N|NREP_ENST00000507742.1_5'UTR|NREP_ENST00000509025.1_Intron|NREP_ENST00000450761.2_Missense_Mutation_p.D42N|NREP_ENST00000509427.1_Missense_Mutation_p.D42N|NREP_ENST00000419114.2_Missense_Mutation_p.D42N|NREP_ENST00000453526.2_Missense_Mutation_p.D42N|NREP_ENST00000447165.2_Missense_Mutation_p.D42N|NREP_ENST00000508870.1_Missense_Mutation_p.D42N|NREP_ENST00000446294.2_Missense_Mutation_p.D42N|STARD4-AS1_ENST00000513221.1_RNA	NM_001142478.1	NP_001135950.1	Q16612	NP311_HUMAN	neuronal regeneration related protein	42						cytoplasm											TTTGTCTCATCGTTCTTCTTG	0.478000													21	41					0	0	0.008871	0	0
ENTPD7	57089	broad.mit.edu	37	10	101464379	101464379	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:101464379C>T	ENST00000370489.4	+	13	1932	c.1754C>T	c.(1753-1755)cCa>cTa	p.P585L	CUTC_ENST00000493385.1_Intron	NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	585						cytoplasmic vesicle membrane|integral to membrane	hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		GCCTCAGCTCCATTGGACTTG	0.562000													7	27					0	0	0.003080	0	0
PRUNE2	158471	broad.mit.edu	37	9	79320216	79320216	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:79320216G>A	ENST00000428286.1	-	8	7097	c.5897C>T	c.(5896-5898)tCc>tTc	p.S1966F	PRUNE2_ENST00000376718.3_Missense_Mutation_p.S2325F			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2325					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ATGGCCTTCGGATAATGTCAG	0.483000													25	54					0	0	0.005443	0	0
OR2W1	26692	broad.mit.edu	37	6	29012117	29012117	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:29012117G>A	ENST00000377175.1	-	1	900	c.836C>T	c.(835-837)aCc>aTc	p.T279I		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						AGTGATGACGGTGTAAAAGAG	0.433000													16	20					0	0	0.004007	0	0
TRHDE	29953	broad.mit.edu	37	12	73015526	73015526	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:73015526G>A	ENST00000261180.4	+	15	2631	c.2535G>A	c.(2533-2535)agG>agA	p.R845R		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	845					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CCAGCAACAGGAACAGGTAAA	0.393000													9	17					0	0	0.008291	0	0
FOLR1	2348	broad.mit.edu	37	11	71906375	71906375	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:71906375G>A	ENST00000393679.1	+	3	665	c.229G>A	c.(229-231)Gat>Aat	p.D77N	RP11-807H22.7_ENST00000378140.3_RNA|FOLR1_ENST00000312293.4_Missense_Mutation_p.D77N|FOLR1_ENST00000393681.2_Missense_Mutation_p.D77N|FOLR1_ENST00000393676.3_Missense_Mutation_p.D77N			P15328	FOLR1_HUMAN	folate receptor 1 (adult)	77					cell death|folic acid transport|receptor-mediated endocytosis	anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction	folic acid binding|receptor activity			cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14						AGCCCATAAGGATGTTTCCTA	0.537000													49	75					0	0	0.003610	0	0
FTMT	94033	broad.mit.edu	37	5	121188103	121188103	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:121188103G>A	ENST00000321339.1	+	1	454	c.445G>A	c.(445-447)Gaa>Aaa	p.E149K		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	149	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		CAAGAAGCCGGAACAGGACGA	0.597000													26	69					0	0	0.006320	0	0
SLC9A5	6553	broad.mit.edu	37	16	67289037	67289037	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:67289037C>T	ENST00000299798.11	+	3	669	c.604C>T	c.(604-606)Ctc>Ttc	p.L202F	SLC9A5_ENST00000561472.2_3'UTR	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	202				L -> V (in Ref. 4; AAA87678).	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)		CAATGAGACTCTCTTTATCAT	0.587000													24	64					0	0	0.003330	0	0
SPZ1	84654	broad.mit.edu	37	5	79616892	79616892	+	Silent	SNP	A	A	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:79616892A>T	ENST00000296739.4	+	1	1103	c.858A>T	c.(856-858)ggA>ggT	p.G286G		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		GAAATAATGGAGTCGGTTTCC	0.408000													21	56					0	0	0.001882	0	0
DNALI1	7802	broad.mit.edu	37	1	38027169	38027169	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:38027169C>T	ENST00000296218.7	+	4	485	c.475C>T	c.(475-477)Cgg>Tgg	p.R159W	DNALI1_ENST00000541606.1_Missense_Mutation_p.R11W|DNALI1_ENST00000497858.1_3'UTR	NM_003462.3	NP_003453.2	O14645	IDLC_HUMAN	dynein, axonemal, light intermediate chain 1	137					cellular component movement|single fertilization	axonemal dynein complex	microtubule motor activity			breast(1)|kidney(1)|large_intestine(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGAGTTGATCCGGGAGGTCAC	0.587000											OREG0013380	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	18					0	0	0.001368	0	0
DCX	1641	broad.mit.edu	37	X	110644401	110644401	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:110644401C>T	ENST00000338081.3	-	3	936	c.765G>A	c.(763-765)aaG>aaA	p.K255K	DCX_ENST00000356220.3_Silent_p.K174K|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000371993.2_Silent_p.K174K|DCX_ENST00000488120.1_Silent_p.K174K|DCX_ENST00000356915.2_Silent_p.K174K	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	255					axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						GCACAAAGTCCTTGTTCTCCC	0.532000													17	55					0	0	0.004007	0	0
EIF4G1	1981	broad.mit.edu	37	3	184041377	184041377	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:184041377C>T	ENST00000342981.4	+	14	2687	c.2273C>T	c.(2272-2274)aCc>aTc	p.T758I	EIF4G1_ENST00000441154.1_Missense_Mutation_p.T594I|EIF4G1_ENST00000427845.1_Missense_Mutation_p.T671I|EIF4G1_ENST00000414031.1_Missense_Mutation_p.T717I|EIF4G1_ENST00000350481.5_Missense_Mutation_p.T593I|EIF4G1_ENST00000382330.3_Missense_Mutation_p.T764I|EIF4G1_ENST00000392537.2_Missense_Mutation_p.T670I|EIF4G1_ENST00000352767.3_Missense_Mutation_p.T764I|EIF4G1_ENST00000411531.1_Missense_Mutation_p.T718I|EIF4G1_ENST00000424196.1_Missense_Mutation_p.T764I|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000346169.2_Missense_Mutation_p.T757I|EIF4G1_ENST00000319274.6_Missense_Mutation_p.T757I|EIF4G1_ENST00000434061.2_Missense_Mutation_p.T562I|EIF4G1_ENST00000435046.2_Missense_Mutation_p.T561I	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	757	MIF4G.|eIF3/EIF4A-binding.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGCAGCAAAACCCAGGTACTG	0.493000													15	72					0	0	0.002450	0	0
ADAM19	8728	broad.mit.edu	37	5	156946990	156946990	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:156946990G>A	ENST00000257527.4	-	6	535	c.457C>T	c.(457-459)Cct>Tct	p.P153S	ADAM19_ENST00000517905.1_Missense_Mutation_p.P153S|ADAM19_ENST00000430702.2_5'UTR|ADAM19_ENST00000394020.1_Missense_Mutation_p.P155S	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	153					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTGCTGTCAGGGAGGGGCTCG	0.517000													48	88					0	0	0.003610	0	0
BCR	613	broad.mit.edu	37	22	23657640	23657640	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr22:23657640C>T	ENST00000305877.8	+	23	4498	c.3747C>T	c.(3745-3747)ttC>ttT	p.F1249F	BCR_ENST00000359540.3_Silent_p.F1205F|BCR_ENST00000436990.2_3'UTR	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	1249					regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						TGCTGTACTTCCTGCAGCTGG	0.622000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""								17	51					0	0	0.010504	0	0
SRPX	8406	broad.mit.edu	37	X	38020264	38020264	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:38020264C>T	ENST00000378533.3	-	6	803	c.697G>A	c.(697-699)Gga>Aga	p.G233R	TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000343800.6_Missense_Mutation_p.G220R|SRPX_ENST00000544439.1_Missense_Mutation_p.G213R|SRPX_ENST00000432886.2_Missense_Mutation_p.G174R|SRPX_ENST00000538295.1_Missense_Mutation_p.G233R	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	233	HYR.				cell adhesion	cell surface|membrane				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						TTGTGGTCTCCTTCTGGAAAG	0.418000													25	51					0	0	0.003954	0	0
SYNM	23336	broad.mit.edu	37	15	99670160	99670160	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:99670160C>T	ENST00000336292.6	+	5	1712	c.1592C>T	c.(1591-1593)tCc>tTc	p.S531F	SYNM_ENST00000560674.1_Missense_Mutation_p.S246F|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000328642.7_Missense_Mutation_p.S531F	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	532	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						GAGAAGGCTTCCGAGGAGAGA	0.443000													5	13					0	0	0.000602	0	0
CCDC86	79080	broad.mit.edu	37	11	60615428	60615428	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:60615428C>T	ENST00000227520.5	+	2	844	c.790C>T	c.(790-792)Cgc>Tgc	p.R264C	RP11-804A23.4_ENST00000538705.1_RNA|CCDC86_ENST00000545580.1_Missense_Mutation_p.R8C	NM_024098.3	NP_077003.1	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	264					interspecies interaction between organisms	nucleus				endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3)	10						CAAGCCCCTGCGCACATCGTG	0.617000													12	87					0	0	0.001368	0	0
RXRA	6256	broad.mit.edu	37	9	137300902	137300902	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:137300902C>T	ENST00000540193.1	+	3	1179	c.256C>T	c.(256-258)Cag>Tag	p.Q86*	RXRA_ENST00000481739.1_Nonsense_Mutation_p.Q183*|RXRA_ENST00000356384.4_3'UTR			P19793	RXRA_HUMAN	retinoid X receptor, alpha	183	Modulating (By similarity).				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	TGACAAGCGGCAGCGGAACCG	0.652000													26	64					0	0	0.002836	0	0
DISP2	85455	broad.mit.edu	37	15	40655878	40655878	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:40655878C>T	ENST00000267889.3	+	2	259	c.172C>T	c.(172-174)Ctc>Ttc	p.L58F		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	58					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		AAGCTGCTCCCTCCACAGCTG	0.642000													70	111					0	0	0.003610	0	0
EGFL6	25975	broad.mit.edu	37	X	13624618	13624618	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:13624618G>A	ENST00000361306.1	+	6	898	c.641G>A	c.(640-642)cGa>cAa	p.R214Q	EGFL6_ENST00000380602.3_Missense_Mutation_p.R214Q	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	214					cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						ATCAGTGGACGATATGACTGT	0.403000													36	82					0	0	0.004878	0	0
DYSF	8291	broad.mit.edu	37	2	71778824	71778824	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:71778824C>T	ENST00000258104.3	+	19	2003	c.1726C>T	c.(1726-1728)Cct>Tct	p.P576S	DYSF_ENST00000429174.2_Missense_Mutation_p.P576S|DYSF_ENST00000413539.2_Missense_Mutation_p.P607S|DYSF_ENST00000409651.1_Missense_Mutation_p.P608S|DYSF_ENST00000409366.1_Missense_Mutation_p.P577S|DYSF_ENST00000410020.3_Missense_Mutation_p.P594S|DYSF_ENST00000409762.1_Missense_Mutation_p.P593S|DYSF_ENST00000409582.3_Missense_Mutation_p.P593S|DYSF_ENST00000394120.2_Missense_Mutation_p.P577S|DYSF_ENST00000409744.1_Missense_Mutation_p.P563S|DYSF_ENST00000410041.1_Missense_Mutation_p.P594S	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	576						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GGAGGACCTTCCTGCGGATGA	0.652000													7	32					0	0	0.001984	0	0
TLR4	7099	broad.mit.edu	37	9	120475004	120475004	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:120475004C>T	ENST00000355622.6	+	3	699	c.598C>T	c.(598-600)Caa>Taa	p.Q200*	TLR4_ENST00000394487.4_Nonsense_Mutation_p.Q160*|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	200					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						GGTTCTACATCAAATGCCCCT	0.393000													24	54					0	0	0.002780	0	0
SCAND3	114821	broad.mit.edu	37	6	28541392	28541392	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:28541392C>T	ENST00000452236.2	-	4	2891	c.2274G>A	c.(2272-2274)caG>caA	p.Q758Q		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	758					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						aaataatacactgtggtttta	0.323000													12	24					0	0	0.000978	0	0
ARHGEF1	9138	broad.mit.edu	37	19	42396720	42396720	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:42396720C>T	ENST00000599846.1	+	7	539	c.414C>T	c.(412-414)ttC>ttT	p.F138F	ARHGEF1_ENST00000347545.4_Silent_p.F105F|ARHGEF1_ENST00000354532.3_Silent_p.F138F|ARHGEF1_ENST00000378152.4_Silent_p.F120F|ARHGEF1_ENST00000337665.4_Silent_p.F153F			Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	138	RGSL.				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		AGCGGCGGTTCGTGCAGGAGG	0.662000													23	32					0	0	0.004656	0	0
EXOC6B	23233	broad.mit.edu	37	2	72723613	72723613	+	Silent	SNP	T	T	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:72723613T>C	ENST00000272427.6	-	14	1543	c.1413A>G	c.(1411-1413)caA>caG	p.Q471Q	EXOC6B_ENST00000410104.1_Silent_p.Q471Q	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	471					protein transport|vesicle docking involved in exocytosis	exocyst				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						GAAATGGGAATTGTCCTACCA	0.343000													3	12					0	0	0.004672	0	0
SPEF2	79925	broad.mit.edu	37	5	35763670	35763670	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:35763670C>T	ENST00000440995.2	+	26	3652	c.3652C>T	c.(3652-3654)Ccc>Tcc	p.P1218S	SPEF2_ENST00000356031.3_Missense_Mutation_p.P1223S|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1223					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AACAGTTACACCCAAACCAAA	0.373000													22	41					0	0	0.002780	0	0
GPR34	2857	broad.mit.edu	37	X	41555682	41555682	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:41555682C>T	ENST00000378142.4	+	3	1080	c.796C>T	c.(796-798)Cgt>Tgt	p.R266C	CASK_ENST00000442742.2_Intron|CASK_ENST00000421587.2_Intron|GPR34_ENST00000378138.5_Missense_Mutation_p.R266C|CASK_ENST00000318588.9_Intron|CASK_ENST00000378158.1_Intron|CASK_ENST00000361962.4_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000378166.4_Intron|CASK_ENST00000378154.1_Intron	NM_001097579.1|NM_005300.3	NP_001091048.1|NP_005291.1	Q9UPC5	GPR34_HUMAN	G protein-coupled receptor 34	266						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						CACTACAGCTCGTAACTCCTT	0.313000													7	19					0	0	0.001984	0	0
CLCA1	1179	broad.mit.edu	37	1	86965350	86965350	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:86965350C>T	ENST00000234701.3	+	15	2718	c.2367C>T	c.(2365-2367)atC>atT	p.I789I	CLCA1_ENST00000394711.1_Silent_p.I789I			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	789					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		ACAAGTATATCATTCGAATAA	0.308000													15	32					0	0	0.002450	0	0
BTG1	694	broad.mit.edu	37	12	92537991	92537991	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:92537991G>A	ENST00000256015.3	-	2	742	c.381C>T	c.(379-381)gcC>gcT	p.A127A		NM_001731.2	NP_001722.1	P62324	BTG1_HUMAN	B-cell translocation gene 1, anti-proliferative	127					cell migration|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of endothelial cell differentiation|positive regulation of myoblast differentiation|regulation of apoptosis|regulation of transcription, DNA-dependent	cytoplasm|nucleus	kinase binding|transcription cofactor activity			haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(1)|lung(2)	16		Acute lymphoblastic leukemia(6;3.02e-13)|all_hematologic(6;4.32e-09)				CTGCTGGTGAGGCTTCATACA	0.512000			T	MYC	BCLL						OREG0022024	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	75					0	0	0.008361	0	0
SUPT7L	9913	broad.mit.edu	37	2	27880321	27880321	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:27880321A>G	ENST00000337768.5	-	4	1204	c.635T>C	c.(634-636)tTt>tCt	p.F212S	SUPT7L_ENST00000405491.1_Missense_Mutation_p.F210S|SUPT7L_ENST00000404798.2_Missense_Mutation_p.F77S|SUPT7L_ENST00000406540.1_Missense_Mutation_p.F210S|SUPT7L_ENST00000464789.2_Missense_Mutation_p.F210S	NM_014860.1	NP_055675.1	O94864	ST65G_HUMAN	suppressor of Ty 7 (S. cerevisiae)-like	212					histone H3 acetylation|maintenance of protein location in nucleus|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)					CACATCAGGAAAAGGAGTCTG	0.522000													9	28					0	0	0.006214	0	0
FAM170A	340069	broad.mit.edu	37	5	118969720	118969720	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:118969720G>A	ENST00000515256.1	+	3	449	c.277G>A	c.(277-279)Gga>Aga	p.G93R				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	93						intracellular	zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						TCAGGAACGAGGAGAGACTCC	0.498000													20	53					0	0	0.007413	0	0
SCAF8	22828	broad.mit.edu	37	6	155152088	155152088	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:155152088G>T	ENST00000367178.3	+	19	2749	c.2173G>T	c.(2173-2175)Gaa>Taa	p.E725*	SCAF8_ENST00000367186.4_Nonsense_Mutation_p.E791*|SCAF8_ENST00000417268.1_Nonsense_Mutation_p.E725*	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	725	Pro-rich.				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						CATGACACCGGAAACTGTGAA	0.408000													19	41					2.39187e-15	2.4476e-15	0.008871	1	0
TMEM202	338949	broad.mit.edu	37	15	72699073	72699073	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:72699073C>T	ENST00000341689.3	+	3	522	c.468C>T	c.(466-468)tcC>tcT	p.S156S	TMEM202_ENST00000567679.1_3'UTR	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	156						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						TGAAGGTATCCATGCTCAGCT	0.443000													50	120					0	0	0.003610	0	0
MUSK	4593	broad.mit.edu	37	9	113550028	113550028	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:113550028G>A	ENST00000416899.2	+	12	1939	c.1813G>A	c.(1813-1815)Gaa>Aaa	p.E605K	MUSK_ENST00000189978.5_Missense_Mutation_p.E613K|MUSK_ENST00000374438.1_Missense_Mutation_p.E129K|MUSK_ENST00000374448.4_Missense_Mutation_p.E613K			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	613	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						GATGCTCAAAGAAGAAGCCTC	0.433000													11	21					0	0	0.008291	0	0
KCND1	3750	broad.mit.edu	37	X	48819939	48819939	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:48819939G>A	ENST00000218176.3	-	6	3144	c.1847C>T	c.(1846-1848)tCc>tTc	p.S616F	KCND1_ENST00000376477.1_Missense_Mutation_p.S239F	NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1	616						voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24						GCCGCCAGGGGAGGAAGGTTG	0.632000													8	18					0	0	0.004482	0	0
MAP3K3	4215	broad.mit.edu	37	17	61744305	61744305	+	Silent	SNP	T	T	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:61744305T>C	ENST00000361357.3	+	7	798	c.480T>C	c.(478-480)agT>agC	p.S160S	MAP3K3_ENST00000584573.1_Silent_p.S160S|MAP3K3_ENST00000361733.3_Silent_p.S129S|MAP3K3_ENST00000577395.1_Silent_p.S129S|MAP3K3_ENST00000579585.1_Silent_p.S160S	NM_203351.1	NP_976226.1	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	129					MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						TACAGAACAGTTCCTCTCCCC	0.527000													16	55					0	0	0.008871	0	0
SORL1	6653	broad.mit.edu	37	11	121481797	121481797	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:121481797C>T	ENST00000260197.7	+	39	5381	c.5252C>T	c.(5251-5253)cCa>cTa	p.P1751L	SORL1_ENST00000527934.1_Missense_Mutation_p.P366L|SORL1_ENST00000534286.1_Missense_Mutation_p.P661L|SORL1_ENST00000525532.1_Missense_Mutation_p.P695L|SORL1_ENST00000532694.1_Missense_Mutation_p.P597L	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1751	Fibronectin type-III 3.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		ATCCCACCACCAGATATCCAC	0.418000													20	49					0	0	0.010504	0	0
C5orf42	65250	broad.mit.edu	37	5	37183116	37183116	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:37183116G>A	ENST00000274258.7	-	26	5397	c.1810C>T	c.(1810-1812)Cag>Tag	p.Q604*	C5orf42_ENST00000425232.2_Nonsense_Mutation_p.Q1723*|C5orf42_ENST00000508244.1_Nonsense_Mutation_p.Q1723*			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	1723										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TCATTGCACTGAATAGCTTTG	0.368000													11	53					0	0	0.008291	0	0
SLC9A5	6553	broad.mit.edu	37	16	67304790	67304790	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:67304790G>A	ENST00000299798.11	+	16	2433	c.2368G>A	c.(2368-2370)Ggt>Agt	p.G790S		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	790					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)		CATGCAGACGGGTTGGAACCA	0.607000													23	57					0	0	0.002299	0	0
DMBT1	1755	broad.mit.edu	37	10	124358464	124358464	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:124358464G>A	ENST00000368909.3	+	26	3237	c.3131G>A	c.(3130-3132)gGa>gAa	p.G1044E	DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.G1034E|DMBT1_ENST00000330163.4_Missense_Mutation_p.G545E|DMBT1_ENST00000368956.2_Missense_Mutation_p.G545E|DMBT1_ENST00000338354.3_Missense_Mutation_p.G1044E|DMBT1_ENST00000344338.3_Missense_Mutation_p.G1034E	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1044	SRCR 8.				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)				TCAGCCCCAGGAAATGCCCGG	0.612000													152	104					0	0	0.003610	0	0
MYH13	8735	broad.mit.edu	37	17	10214431	10214431	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:10214431C>T	ENST00000418404.3	-	32	4808	c.4645G>A	c.(4645-4647)Gaa>Aaa	p.E1549K	MYH13_ENST00000252172.4_Missense_Mutation_p.E1549K|MYH13_ENST00000570743.1_Missense_Mutation_p.E1549K			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1549					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCCACTTCTTCTAAGGCGACC	0.493000													35	55					0	0	0.004878	0	0
POTEC	388468	broad.mit.edu	37	18	14542879	14542879	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:14542879G>A	ENST00000358970.5	-	1	266	c.267C>T	c.(265-267)tcC>tcT	p.S89S	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	89										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TCTTCATAAAGGAGTTGTCAT	0.607000													19	194					0	0	0.003954	0	0
ASXL2	55252	broad.mit.edu	37	2	25965059	25965059	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:25965059G>A	ENST00000435504.4	-	13	4440	c.4147C>T	c.(4147-4149)Cct>Tct	p.P1383S	ASXL2_ENST00000336112.4_Missense_Mutation_p.P1355S|ASXL2_ENST00000272341.4_Missense_Mutation_p.P866S|ASXL2_ENST00000404843.1_Missense_Mutation_p.P866S			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	1383					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCTGAACAGGAATGGTCTGG	0.502000													24	91					0	0	0.004656	0	0
ABCD2	225	broad.mit.edu	37	12	39998563	39998563	+	Splice_Site	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:39998563C>T	ENST00000308666.3	-	4	1541		c.e4+1			NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2						fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						GAGTTTAATACCTTTAATTGC	0.328000													19	38					0	0	0.001882	0	0
BDKRB2	624	broad.mit.edu	37	14	96707205	96707205	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:96707205G>A	ENST00000542454.2	+	3	3547	c.459G>A	c.(457-459)gtG>gtA	p.V153V	RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000539359.1_Silent_p.V153V|BDKRB2_ENST00000554311.1_Silent_p.V180V|BDKRB2_ENST00000306005.3_Silent_p.V180V			P30411	BKRB2_HUMAN	bradykinin receptor B2	180					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		ACAGCTTGGTGATCTGGGGGT	0.607000													27	61					0	0	0.005443	0	0
SNHG14	104472715	broad.mit.edu	37	15	25296652	25296652	+	RNA	SNP	A	A	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:25296652A>G	ENST00000549804.2	+	0	98				SNHG14_ENST00000552781.1_RNA|SNHG14_ENST00000547292.1_RNA|SNORD116-1_ENST00000384335.1_RNA																							CTATAAAAACATTCCTTGGAA	0.478000													34	85					0	0	0.005524	0	0
ANKS1B	56899	broad.mit.edu	37	12	99548100	99548100	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:99548100C>T	ENST00000547776.2	-	15	2492	c.2493G>A	c.(2491-2493)ctG>ctA	p.L831L	ANKS1B_ENST00000547010.1_Silent_p.L407L|ANKS1B_ENST00000549493.2_Silent_p.L57L|ANKS1B_ENST00000547446.1_Silent_p.L26L|ANKS1B_ENST00000550693.2_Silent_p.L57L|ANKS1B_ENST00000546568.1_Silent_p.L57L|ANKS1B_ENST00000549025.2_5'UTR|ANKS1B_ENST00000332712.7_Silent_p.L57L|ANKS1B_ENST00000546960.1_Silent_p.L57L|ANKS1B_ENST00000329257.7_Silent_p.L831L|ANKS1B_ENST00000549558.2_Silent_p.L57L	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	831	SAM 1.					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)		CATTAGCCATCAGGTGGTTCT	0.478000													15	41					0	0	0.004007	0	0
HMGB4	127540	broad.mit.edu	37	1	34330328	34330328	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:34330328G>A	ENST00000522796.1	+	4	2441	c.536G>A	c.(535-537)aGa>aAa	p.R179K	HMGB4_ENST00000519684.1_Missense_Mutation_p.R179K|HMGB4_ENST00000425537.1_3'UTR|CSMD2_ENST00000373381.4_Intron			B2R4X7	B2R4X7_HUMAN	high mobility group box 4	179						nucleus	DNA binding			NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AACCGGTGCAGAGGGAAAAGA	0.453000													13	33					0	0	0.001855	0	0
PIF1	80119	broad.mit.edu	37	15	65112122	65112122	+	Silent	SNP	C	C	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:65112122C>A	ENST00000268043.4	-	8	1351	c.1257G>T	c.(1255-1257)ggG>ggT	p.G419G	PIF1_ENST00000333425.6_Silent_p.G419G|PIF1_ENST00000559239.1_Silent_p.G419G			Q9H611	PIF1_HUMAN	PIF1 5'-to-3' DNA helicase	419	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding			kidney(1)|lung(1)	2						TGGCCACAATCCCATCTCGCC	0.652000													27	47					3.73148e-12	3.80215e-12	0.007291	1	0
NDUFS2	4720	broad.mit.edu	37	1	161179046	161179046	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:161179046C>A	ENST00000392179.4	+	4	696	c.457C>A	c.(457-459)Cta>Ata	p.L153I	NDUFS2_ENST00000367993.3_Missense_Mutation_p.L153I|NDUFS2_ENST00000476409.2_Missense_Mutation_p.L55I	NM_001166159.1	NP_001159631.1	O75306	NDUS2_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)	153					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)	GGCCTATTCTCTAGCTGTGGA	0.532000											OREG0013941	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	46					2.98393e-07	3.02042e-07	0.002780	1	0
HSD3B2	3284	broad.mit.edu	37	1	119964988	119964988	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:119964988C>T	ENST00000543831.1	+	4	1113	c.864C>T	c.(862-864)acC>acT	p.T288T	HSD3B2_ENST00000369416.3_Silent_p.T288T	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	288					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	TTCCTTTAACCCTGATGTACT	0.478000													31	76					0	0	0.002096	0	0
SLC7A1	6541	broad.mit.edu	37	13	30091756	30091756	+	Silent	SNP	A	A	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr13:30091756A>G	ENST00000380752.5	-	10	1850	c.1464T>C	c.(1462-1464)ccT>ccC	p.P488P	SLC7A1_ENST00000473577.1_5'UTR	NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	488					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	AGATTTTGGAAGGCTCCATGT	0.458000													38	104					0	0	0.002522	0	0
PRR12	57479	broad.mit.edu	37	19	50098289	50098289	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:50098289G>A	ENST00000418929.2	+	4	709	c.697G>A	c.(697-699)Gac>Aac	p.D233N		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	19	Pro-rich.						DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		TGGCCCCCCAGACCCACCACC	0.697000													8	10					0	0	0.003080	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29883583	29883583	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:29883583G>A	ENST00000308713.5	-	16	3155	c.2628C>T	c.(2626-2628)ttC>ttT	p.F876F	SEZ6L2_ENST00000537485.1_Silent_p.F845F|SEZ6L2_ENST00000346932.5_Silent_p.F775F|SEZ6L2_ENST00000350527.3_Silent_p.F819F	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	876						endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCGAGAAGCCGAAAAGGGACT	0.602000													22	34					0	0	0.002299	0	0
ATIC	471	broad.mit.edu	37	2	216197147	216197147	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:216197147T>C	ENST00000435675.1	+	7	1119	c.728T>C	c.(727-729)tTg>tCg	p.L243S	ATIC_ENST00000540518.1_Missense_Mutation_p.L185S|ATIC_ENST00000236959.9_Missense_Mutation_p.L244S			P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	244					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Tetrahydrofolic acid(DB00116)	TGCGATGCTTTGAACGCCTGG	0.448000			T	ALK	ALCL								32	44					0	0	0.002445	0	0
BBS2	583	broad.mit.edu	37	16	56519580	56519580	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:56519580G>A	ENST00000245157.5	-	16	2401	c.1981C>T	c.(1981-1983)Cgc>Tgc	p.R661C	BBS2_ENST00000568104.1_Missense_Mutation_p.R615C	NM_031885.3	NP_114091.3	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	661					adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						TTGTTACAGCGAATTTTATAT	0.378000									Bardet-Biedl syndrome				33	83					0	0	0.002445	0	0
KCNV1	27012	broad.mit.edu	37	8	110980738	110980738	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:110980738G>A	ENST00000524391.1	-	4	2114	c.1082C>T	c.(1081-1083)tCa>tTa	p.S361L	KCNV1_ENST00000297404.1_Missense_Mutation_p.S361L			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	361						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			TTCTACAGTTGAAAATATAGA	0.478000													15	40					0	0	0.002450	0	0
MAGEB18	286514	broad.mit.edu	37	X	26157999	26157999	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:26157999C>T	ENST00000325250.1	+	2	1084	c.897C>T	c.(895-897)ttC>ttT	p.F299F		NM_173699.3	NP_775970.1	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	299	MAGE.						protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						CTAGTGCCTTCCCATCCTGCT	0.517000													5	20					0	0	0.000602	0	0
ZRANB3	84083	broad.mit.edu	37	2	135960445	135960445	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:135960445G>A	ENST00000401392.1	-	20	3304	c.3092C>T	c.(3091-3093)tCc>tTc	p.S1031F	ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000264159.6_Missense_Mutation_p.S1033F|ZRANB3_ENST00000536680.1_Missense_Mutation_p.S1031F			Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	1033						intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		GTTGTCCAGGGAACACTGTCC	0.463000													4	11					0	0	0.009096	0	0
MGAM	8972	broad.mit.edu	37	7	141803141	141803141	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:141803141G>A	ENST00000475668.2	+	70	8140	c.8086G>A	c.(8086-8088)Gaa>Aaa	p.E2696K	MGAM_ENST00000549489.2_Missense_Mutation_p.E1800K			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1800					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GGGCTACATTGAAATCTGGGG	0.428000													5	12					0	0	0.000602	0	0
AVIL	10677	broad.mit.edu	37	12	58197420	58197420	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:58197420C>T	ENST00000537081.1	-	14	1682	c.1683G>A	c.(1681-1683)aaG>aaA	p.K561K	AVIL_ENST00000550083.1_Intron|TSFM_ENST00000548851.1_Intron|AVIL_ENST00000257861.3_Silent_p.K568K			O75366	AVIL_HUMAN	advillin	568	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					TGGCCAGCTCCTTAGCCATTG	0.587000											OREG0021955	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	28					0	0	0.001368	0	0
APOB	338	broad.mit.edu	37	2	21231384	21231384	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:21231384C>T	ENST00000233242.1	-	26	8483	c.8356G>A	c.(8356-8358)Gaa>Aaa	p.E2786K		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2786					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATACCTGCTTCGTTTGCTGAG	0.403000													204	445					0	0	0.003610	0	0
IGHA1	3493	broad.mit.edu	37	14	106173899	106173899	+	RNA	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:106173899C>T	ENST00000390547.2	-	0	667																											GAATGTGTTTCCTGGAGGGTA	0.697000													5	31					0	0	0.004482	0	0
ENAM	10117	broad.mit.edu	37	4	71508414	71508414	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:71508414C>T	ENST00000396073.3	+	9	1552	c.1271C>T	c.(1270-1272)cCt>cTt	p.P424L	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	424					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			GGTCCCAAACCTGGCCCTGTT	0.463000													28	57					0	0	0.004656	0	0
PTPRT	11122	broad.mit.edu	37	20	41419868	41419868	+	Silent	SNP	G	G	A	rs140340339		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:41419868G>A	ENST00000373198.3	-	3	688	c.453C>T	c.(451-453)ctC>ctT	p.L151L	PTPRT_ENST00000373187.1_Silent_p.L151L|PTPRT_ENST00000373190.1_Silent_p.L151L|PTPRT_ENST00000356100.2_Silent_p.L151L|PTPRT_ENST00000373201.1_Silent_p.L151L|PTPRT_ENST00000373193.3_Silent_p.L151L|PTPRT_ENST00000373184.1_Silent_p.L151L	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	151	MAM.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.L151L(2)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGCTGATGGCGAGCTCTGCCT	0.488000													32	89					0	0	0.004289	0	0
CR1L	1379	broad.mit.edu	37	1	207890829	207890829	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:207890829C>T	ENST00000508064.2	+	11	1495	c.1435C>T	c.(1435-1437)Cca>Tca	p.P479S		NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	479	Sushi 8.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TCCAAATCCTCCAGCTATCCT	0.413000													35	87					0	0	0.005524	0	0
OPCML	4978	broad.mit.edu	37	11	132399032	132399032	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:132399032C>T	ENST00000331898.7	-	3	1027	c.449G>A	c.(448-450)gGa>gAa	p.G150E	OPCML_ENST00000541867.1_Missense_Mutation_p.G150E|OPCML_ENST00000374778.4_Missense_Mutation_p.G109E|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000524381.1_Missense_Mutation_p.G143E	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	150	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		CACACTGCTTCCCTCATTCAC	0.468000													14	17					0	0	0.001855	0	0
PLCB4	5332	broad.mit.edu	37	20	9400458	9400458	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:9400458C>T	ENST00000378501.2	+	22	2035	c.2020C>T	c.(2020-2022)Ctt>Ttt	p.L674F	PLCB4_ENST00000278655.4_Missense_Mutation_p.L674F|PLCB4_ENST00000334005.3_Missense_Mutation_p.L674F|PLCB4_ENST00000414679.2_Missense_Mutation_p.L686F|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Missense_Mutation_p.L674F|PLCB4_ENST00000378473.3_Missense_Mutation_p.L686F	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	674	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TACCAGGTACCTTCTCAAACC	0.428000													31	86					0	0	0.003271	0	0
OR9A2	135924	broad.mit.edu	37	7	142723915	142723915	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:142723915G>A	ENST00000350513.2	-	1	367	c.305C>T	c.(304-306)tCc>tTc	p.S102F		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					GGTCCCACAGGAAAAGTTGAG	0.463000													24	44					0	0	0.002780	0	0
TRBV3-1	28619	broad.mit.edu	37	7	142008598	142008598	+	RNA	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:142008598C>T	ENST00000390387.3	+	0	118																											ACAGCTGTTTCCCAGACTCCA	0.453000													13	51					0	0	0.001368	0	0
OR51A2	401667	broad.mit.edu	37	11	4976460	4976460	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:4976460G>A	ENST00000380371.1	-	1	483	c.484C>T	c.(484-486)Cct>Tct	p.P162S	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAAGTGAAAGGGAAGGGAAGA	0.438000													34	48					0	0	0.007835	0	0
SH2D4B	387694	broad.mit.edu	37	10	82331305	82331305	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:82331305C>T	ENST00000339284.2	+	3	896	c.466C>T	c.(466-468)Ctg>Ttg	p.L156L	SH2D4B_ENST00000313455.4_Silent_p.L107L|SH2D4B_ENST00000470604.2_Silent_p.L155L	NM_207372.2	NP_997255.2	Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B	155	Glu-rich.									endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			TGCCAAAGTCCTGGAGGAACG	0.597000													16	50					0	0	0.004007	0	0
TBC1D3B	414059	broad.mit.edu	37	17	34499226	34499226	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:34499226C>T	ENST00000454519.3	-	7	634	c.485G>A	c.(484-486)cGa>cAa	p.R162Q	TBC1D3B_ENST00000398801.3_Missense_Mutation_p.R162Q|CTB-91J4.1_ENST00000592460.1_RNA	NM_001001417.5	NP_001001417.5	A6NDS4	TBC3B_HUMAN	TBC1 domain family, member 3B	162	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			endometrium(2)|lung(3)|pancreas(1)	6		Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGTTCCGTATCGATCCCTGAA	0.567000													70	842					0	0	0.003610	0	0
PDE4A	5141	broad.mit.edu	37	19	10578289	10578289	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:10578289C>T	ENST00000380702.2	+	16	2587	c.2587C>T	c.(2587-2589)Cct>Tct	p.P863S	PDE4A_ENST00000592685.1_Missense_Mutation_p.P863S|PDE4A_ENST00000344979.3_Missense_Mutation_p.P646S|PDE4A_ENST00000293683.5_Missense_Mutation_p.P859S|PDE4A_ENST00000440014.2_Missense_Mutation_p.P824S|PDE4A_ENST00000352831.6_Missense_Mutation_p.P885S			P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	885					signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	AGGTGGAGACCCTACCTGATC	0.652000													13	52					0	0	0.001855	0	0
INVS	27130	broad.mit.edu	37	9	103002492	103002492	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:103002492C>T	ENST00000262457.2	+	6	951	c.766C>T	c.(766-768)Cga>Tga	p.R256*	INVS_ENST00000541287.1_Nonsense_Mutation_p.R160*|INVS_ENST00000262456.2_Nonsense_Mutation_p.R256*	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	256					negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding	p.R256*(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				TAACTTATTTCGAACCCCACT	0.418000													15	37					0	0	0.004007	0	0
TPTE	7179	broad.mit.edu	37	21	10971338	10971338	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr21:10971338G>A	ENST00000298232.7	-	5	386	c.19C>T	c.(19-21)Ccg>Tcg	p.P7S	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.P7S|TPTE_ENST00000361285.4_Missense_Mutation_p.P7S	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	7					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)		AGGTCAGTCGGATCAGGACTA	0.448000													10	53					0	0	0.006214	0	0
UGT2B4	7363	broad.mit.edu	37	4	70359453	70359453	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:70359453G>A	ENST00000305107.6	-	2	874	c.828C>T	c.(826-828)ttC>ttT	p.F276F	UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_Silent_p.F276F|UGT2B4_ENST00000381096.3_Silent_p.F140F	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	276					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						GTCCTCCAACGAACTCAACAT	0.413000													46	95					0	0	0.003610	0	0
KCNN3	3782	broad.mit.edu	37	1	154841945	154841945	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:154841945C>T	ENST00000271915.3	-	1	811	c.496G>A	c.(496-498)Gac>Aac	p.D166N		NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	171						integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			GGGTTGCTGTCCCGCCGGTGC	0.647000													10	108					0	0	0.006214	0	0
KIF26B	55083	broad.mit.edu	37	1	245850315	245850315	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:245850315T>A	ENST00000366518.4	+	9	2991	c.2887T>A	c.(2887-2889)Tct>Act	p.S963T	KIF26B_ENST00000407071.2_Missense_Mutation_p.S1344T			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1344					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GCTCATCCTGTCTGAGATGGG	0.557000													42	14					0	0	0.007835	0	0
PDZD2	23037	broad.mit.edu	37	5	32010572	32010572	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:32010572C>T	ENST00000438447.1	+	6	1779	c.1391C>T	c.(1390-1392)tCt>tTt	p.S464F	PDZD2_ENST00000282493.3_Missense_Mutation_p.S464F			O15018	PDZD2_HUMAN	PDZ domain containing 2	464					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GGAACCAGCTCTTCTGTCCAG	0.517000													19	40					0	0	0.006122	0	0
MYRF	745	broad.mit.edu	37	11	61533560	61533560	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:61533560C>T	ENST00000278836.5	+	3	361	c.265C>T	c.(265-267)Ccc>Tcc	p.P89S	MYRF_ENST00000265460.5_Missense_Mutation_p.P80S	NM_001127392.1	NP_001120864.1			myelin regulatory factor																		GCGCCATGGTCCCCTCCCACC	0.741000													12	15					0	0	0.000978	0	0
GMEB1	10691	broad.mit.edu	37	1	29028969	29028969	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:29028969C>T	ENST00000373816.1	+	7	756	c.618C>T	c.(616-618)gcC>gcT	p.A206A	GMEB1_ENST00000480454.1_3'UTR|GMEB1_ENST00000361872.4_Silent_p.A206A|GMEB1_ENST00000294409.2_Silent_p.A216A	NM_024482.2	NP_077808.1	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1	216					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		CGCAGATTGCCATCTCAGAAG	0.463000													21	67					0	0	0.002780	0	0
LCT	3938	broad.mit.edu	37	2	136566146	136566146	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:136566146C>T	ENST00000264162.2	-	8	3781	c.3771G>A	c.(3769-3771)ctG>ctA	p.L1257L		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1257	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TGATCCAGTTCAGCAGCCTTC	0.552000													38	94					0	0	0.003755	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64766845	64766845	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:64766845G>A	ENST00000536360.1	-	3	1035	c.222C>T	c.(220-222)gaC>gaT	p.D74D				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	74					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		GATCAATAGGGTCCATACTCC	0.378000													17	37					0	0	0.006122	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102304772	102304772	+	RNA	SNP	T	T	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:102304772T>C	ENST00000561463.1	+	0	12818																											CACAGCGGCGTGACGAGACTC	0.587000													4	20					0	0	0.001168	0	0
FAM83B	222584	broad.mit.edu	37	6	54806553	54806553	+	Silent	SNP	A	A	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:54806553A>T	ENST00000306858.7	+	5	2900	c.2784A>T	c.(2782-2784)tcA>tcT	p.S928S		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	928										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GATCTCATTCAACTGATCGGC	0.443000													19	46					0	0	0.007413	0	0
LAIR1	3903	broad.mit.edu	37	19	54872792	54872792	+	Missense_Mutation	SNP	G	G	A	rs141229178		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:54872792G>A	ENST00000391743.3	-	2	321	c.41C>T	c.(40-42)tCg>tTg	p.S14L	LAIR1_ENST00000463489.1_5'UTR|LAIR1_ENST00000434277.2_Missense_Mutation_p.S31L|LAIR1_ENST00000313038.6_Missense_Mutation_p.S25L|LAIR1_ENST00000474878.1_Missense_Mutation_p.S31L|LAIR1_ENST00000348231.4_Missense_Mutation_p.S32L|LAIR1_ENST00000391742.2_Missense_Mutation_p.S32L			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	32						integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		TGGCTCAGCCGAGATGGAGGG	0.587000													40	92					0	0	0.008740	0	0
NUP98	4928	broad.mit.edu	37	11	3744453	3744453	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:3744453G>A	ENST00000324932.7	-	16	2500	c.2080C>T	c.(2080-2082)Cat>Tat	p.H694Y	NUP98_ENST00000397007.4_Missense_Mutation_p.H711Y|NUP98_ENST00000397004.4_Missense_Mutation_p.H694Y|NUP98_ENST00000355260.3_Missense_Mutation_p.H694Y|NUP98_ENST00000359171.4_Missense_Mutation_p.H694Y	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	711					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity	p.H694N(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		GACTCATCATGAAAAGACGTT	0.423000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								28	29					0	0	0.008361	0	0
SHROOM4	57477	broad.mit.edu	37	X	50438892	50438892	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:50438892C>T	ENST00000376020.2	-	2	188	c.163G>A	c.(163-165)Ggt>Agt	p.G55S	SHROOM4_ENST00000289292.7_Missense_Mutation_p.G55S	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	55	PDZ.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					AGCTCATCACCAGTCCTCATC	0.478000													14	40					0	0	0.003163	0	0
CSTL1	128817	broad.mit.edu	37	20	23420962	23420962	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:23420962G>A	ENST00000347397.1	+	2	304	c.58G>A	c.(58-60)Gcc>Acc	p.A20T	CSTL1_ENST00000472140.1_3'UTR|CSTL1_ENST00000246020.2_Missense_Mutation_p.A20T	NM_138283.1	NP_612140.1	Q9H114	CST1L_HUMAN	cystatin-like 1	20						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(2)|endometrium(2)|large_intestine(3)|lung(4)|skin(2)|stomach(1)	14	Colorectal(13;0.0993)|Lung NSC(19;0.235)					GGTCCTGTCAGCCAAGCTGGG	0.512000													20	35					0	0	0.008871	0	0
ST7L	54879	broad.mit.edu	37	1	113153619	113153619	+	Nonsense_Mutation	SNP	C	C	A	rs140260708	byFrequency	TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:113153619C>A	ENST00000358039.4	-	3	599	c.295G>T	c.(295-297)Gaa>Taa	p.E99*	ST7L_ENST00000544629.1_Nonsense_Mutation_p.E99*|ST7L_ENST00000543570.1_Nonsense_Mutation_p.E82*|ST7L_ENST00000538187.1_Nonsense_Mutation_p.E43*|ST7L_ENST00000490067.1_Nonsense_Mutation_p.E82*|ST7L_ENST00000369666.1_Nonsense_Mutation_p.E82*|ST7L_ENST00000369668.2_Nonsense_Mutation_p.E99*|ST7L_ENST00000343210.7_Nonsense_Mutation_p.E99*|ST7L_ENST00000369669.1_5'UTR|ST7L_ENST00000360743.4_Nonsense_Mutation_p.E99*|ST7L_ENST00000463235.1_5'UTR	NM_017744.4|NM_138727.3	NP_060214.2|NP_620055.1	Q8TDW4	ST7L_HUMAN	suppression of tumorigenicity 7 like	99					negative regulation of cell growth	integral to membrane	binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(1)|prostate(2)|stomach(1)|urinary_tract(3)	15	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACCACCATTCAAATATCTAT	0.383000													13	19					3.27435e-08	3.32378e-08	0.002450	1	0
SGSM1	129049	broad.mit.edu	37	22	25294301	25294301	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr22:25294301C>T	ENST00000400358.4	+	19	2442	c.2385C>T	c.(2383-2385)ttC>ttT	p.F795F	SGSM1_ENST00000400359.4_Silent_p.F850F	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	850	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						TGGACGAGTTCATGTCCATCA	0.627000													17	52					0	0	0.004007	0	0
KLHL14	57565	broad.mit.edu	37	18	30254720	30254720	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:30254720T>A	ENST00000359358.4	-	9	2225	c.1787A>T	c.(1786-1788)aAa>aTa	p.K596I		NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	596						cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						CCAGGTTCCTTTCTCTGGACA	0.468000													56	132					0	0	0.003610	0	0
TYK2	7297	broad.mit.edu	37	19	10463122	10463122	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:10463122C>A	ENST00000525621.1	-	23	3787	c.3306G>T	c.(3304-3306)caG>caT	p.Q1102H	TYK2_ENST00000529422.1_Intron|TYK2_ENST00000524462.1_Missense_Mutation_p.Q917H|TYK2_ENST00000264818.6_Missense_Mutation_p.Q1102H	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	1102	Protein kinase 2.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			TGGGGGGGCTCTGGCTGGAGT	0.607000													41	97					5.85753e-14	5.98832e-14	0.003610	1	0
RTBDN	83546	broad.mit.edu	37	19	12936681	12936681	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:12936681C>T	ENST00000322912.5	-	7	942	c.625G>A	c.(625-627)Gga>Aga	p.G209R	RTBDN_ENST00000589272.1_3'UTR|RTBDN_ENST00000592204.1_Missense_Mutation_p.G187R|RTBDN_ENST00000458671.2_Missense_Mutation_p.G177R|CTD-2265O21.3_ENST00000588469.1_RNA|RTBDN_ENST00000393233.2_3'UTR	NM_031429.2	NP_113617.1	Q9BSG5	RTBDN_HUMAN	retbindin	177						extracellular region				kidney(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12						TGACGGGCTCCAGGAGCAGCC	0.662000											OREG0025275	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	25					0	0	0.003080	0	0
TRBV7-3	28595	broad.mit.edu	37	7	142247384	142247384	+	RNA	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:142247384G>A	ENST00000390361.3	-	0	121																											TGGGGGTCTGGGAGACTCCAG	0.483000													14	86					0	0	0.004007	0	0
SPARC	6678	broad.mit.edu	37	5	151047122	151047122	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:151047122G>A	ENST00000231061.4	-	7	804	c.491C>T	c.(490-492)cCc>cTc	p.P164L	SPARC_ENST00000537849.1_5'UTR	NM_003118.3	NP_003109.1	P09486	SPRC_HUMAN	secreted protein, acidic, cysteine-rich (osteonectin)	164					ossification|platelet activation|platelet degranulation|signal transduction	basement membrane|extracellular space|platelet alpha granule lumen	calcium ion binding|collagen binding			central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)	Becaplermin(DB00102)	CATGCGCAGGGGGAATTCGGT	0.597000													15	20					0	0	0.004007	0	0
GPR112	139378	broad.mit.edu	37	X	135428072	135428072	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:135428072T>A	ENST00000394143.1	+	6	2498	c.2207T>A	c.(2206-2208)tTt>tAt	p.F736Y	GPR112_ENST00000287534.4_Missense_Mutation_p.F673Y|GPR112_ENST00000412101.1_Missense_Mutation_p.F531Y|GPR112_ENST00000394141.1_Missense_Mutation_p.F531Y|GPR112_ENST00000370652.1_Missense_Mutation_p.F736Y	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	736					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.F736Y(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TCACCATGGTTTGCTAATTTC	0.393000													24	56					0	0	0.002780	0	0
HDAC9	9734	broad.mit.edu	37	7	18788706	18788706	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:18788706G>A	ENST00000406451.3	+	14	2129	c.1979G>A	c.(1978-1980)cGa>cAa	p.R660Q	HDAC9_ENST00000441542.2_Missense_Mutation_p.R663Q|HDAC9_ENST00000432645.2_Missense_Mutation_p.R660Q|HDAC9_ENST00000401921.1_Missense_Mutation_p.R619Q	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	660	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	p.R663Q(2)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CATGCTGGACGAATACAGAGT	0.433000													10	22					0	0	0.008291	0	0
MYOM2	9172	broad.mit.edu	37	8	2077143	2077143	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:2077143C>T	ENST00000262113.4	+	32	3864	c.3723C>T	c.(3721-3723)ctC>ctT	p.L1241L	MYOM2_ENST00000523438.1_Silent_p.L666L	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1241					muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TGAAGGTACTCTGCACCCCAG	0.453000													10	29					0	0	0.008291	0	0
MCOLN2	255231	broad.mit.edu	37	1	85424216	85424216	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:85424216T>A	ENST00000370608.3	-	3	474	c.407A>T	c.(406-408)aAt>aTt	p.N136I	MCOLN2_ENST00000284027.5_Missense_Mutation_p.N108I|MCOLN2_ENST00000531325.1_5'UTR	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	136						integral to membrane	ion channel activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		ACTTGCCTGATTAATAGCAAA	0.338000													28	73					0	0	0.002096	0	0
NUDT5	11164	broad.mit.edu	37	10	12221127	12221127	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:12221127A>G	ENST00000491614.1	-	4	531	c.136T>C	c.(136-138)Tgg>Cgg	p.W46R	NUDT5_ENST00000537776.1_Missense_Mutation_p.W46R|NUDT5_ENST00000378927.3_Missense_Mutation_p.W46R|NUDT5_ENST00000378940.3_Missense_Mutation_p.W46R|NUDT5_ENST00000378937.3_Missense_Mutation_p.W59R|NUDT5_ENST00000378952.3_5'UTR			Q9UKK9	NUDT5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 5	46	Substrate binding; shared with dimeric partner.				D-ribose catabolic process|ribonucleoside diphosphate catabolic process	intracellular	ADP-ribose diphosphatase activity|magnesium ion binding			breast(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)	8		Renal(717;0.228)				ACTGATTCCCAAGTTCTGTTC	0.408000													116	276					0	0	0.003610	0	0
OR5K1	26339	broad.mit.edu	37	3	98189280	98189280	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:98189280C>T	ENST00000332650.5	+	1	957	c.860C>T	c.(859-861)cCt>cTt	p.P287L		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTACTAAATCCTTTCATTTAT	0.318000													31	35					0	0	0.002836	0	0
RIT2	6014	broad.mit.edu	37	18	40503584	40503584	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:40503584G>A	ENST00000589109.1	-	4	550	c.379C>T	c.(379-381)Ccc>Tcc	p.P127S	RIT2_ENST00000326695.5_Missense_Mutation_p.P127S|RIT2_ENST00000282028.4_Missense_Mutation_p.P127S|RIT2_ENST00000590910.1_Silent_p.F147F	NM_001272077.1	NP_001259006.1	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	127					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGCACCAGGGGAATTTCATAG	0.478000													66	160					0	0	0.003610	0	0
KALRN	8997	broad.mit.edu	37	3	123987692	123987692	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:123987692G>A	ENST00000360013.3	+	5	680	c.553G>A	c.(553-555)Gaa>Aaa	p.E185K	KALRN_ENST00000240874.3_Missense_Mutation_p.E185K|KALRN_ENST00000460856.1_Missense_Mutation_p.E185K	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	185					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GGAGTGGATCGAACTGCGGCT	0.602000													22	42					0	0	0.002299	0	0
ADH4	127	broad.mit.edu	37	4	100057638	100057638	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:100057638C>T	ENST00000508393.1	-	6	783	c.618G>A	c.(616-618)ggG>ggA	p.G206G	ADH4_ENST00000423445.1_Silent_p.G206G|ADH4_ENST00000505590.1_Silent_p.G206G|ADH4_ENST00000265512.7_Silent_p.G187G|RP11-696N14.1_ENST00000500358.2_RNA			P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	187					alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	NADH(DB00157)	TGATTGCAGCCCCATAGCCAG	0.393000													15	53					0	0	0.004990	0	0
ADD3	120	broad.mit.edu	37	10	111879043	111879043	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:111879043C>T	ENST00000277900.8	+	7	1157	c.792C>T	c.(790-792)gaC>gaT	p.D264D	ADD3_ENST00000360162.3_Silent_p.D264D|ADD3_ENST00000356080.4_Silent_p.D264D	NM_001121.2	NP_001112.2	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	264						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		CCTATTATGACTACCAAGGGT	0.428000													17	51					0	0	0.004007	0	0
TPO	7173	broad.mit.edu	37	2	1546351	1546351	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:1546351C>T	ENST00000337415.3	+	16	2868	c.2777C>T	c.(2776-2778)tCc>tTc	p.S926F	TPO_ENST00000497517.2_3'UTR|TPO_ENST00000329066.4_3'UTR|TPO_ENST00000382201.3_3'UTR|TPO_ENST00000345913.4_3'UTR|TPO_ENST00000349624.3_3'UTR|TPO_ENST00000346956.3_3'UTR			P07202	PERT_HUMAN	thyroid peroxidase	0					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CGACTGTTTTCCCAACACGGG	0.438000													3	3					0	0	0.004672	0	0
PASD1	139135	broad.mit.edu	37	X	150840954	150840954	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:150840954G>A	ENST00000370357.4	+	14	1982	c.1737G>A	c.(1735-1737)ggG>ggA	p.G579G		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	579						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					TCATCGTGGGGAATGAGAGGG	0.532000													20	54					0	0	0.008871	0	0
ABL1	25	broad.mit.edu	37	9	133760588	133760588	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:133760588C>T	ENST00000318560.5	+	11	3292	c.2911C>T	c.(2911-2913)Ccg>Tcg	p.P971S		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	971	F-actin-binding.|Pro-rich.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	GTCCGCCAAGCCGTCGGGGAC	0.672000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								30	69					0	0	0.009535	0	0
RP1	6101	broad.mit.edu	37	8	55541696	55541696	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:55541696C>T	ENST00000220676.1	+	4	5402	c.5254C>T	c.(5254-5256)Cat>Tat	p.H1752Y		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1752					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GAAAGAAAATCATTTGCTAAG	0.413000													15	30					0	0	0.003163	0	0
IGHV3-21	28444	broad.mit.edu	37	14	106691775	106691775	+	RNA	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:106691775C>T	ENST00000390607.2	-	0	327																											ATCGGCCCTTCACTGAGTCTG	0.517000													68	198					0	0	0.003610	0	0
APOB	338	broad.mit.edu	37	2	21249823	21249823	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:21249823C>T	ENST00000233242.1	-	15	2208	c.2081G>A	c.(2080-2082)gGa>gAa	p.G694E	APOB_ENST00000399256.4_Missense_Mutation_p.G694E	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	694					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AAAGCCTTTTCCTTCCAAGCC	0.418000													84	176					0	0	0.003610	0	0
HELZ2	85441	broad.mit.edu	37	20	62197209	62197209	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:62197209G>A	ENST00000467148.1	-	8	3035	c.2966C>T	c.(2965-2967)gCg>gTg	p.A989V	HELZ2_ENST00000427522.2_Missense_Mutation_p.A420V	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		CACCACAGCCGCCTGCTCCTC	0.701000													4	16					0	0	0.000602	0	0
SLC34A2	10568	broad.mit.edu	37	4	25677928	25677928	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:25677928G>A	ENST00000382051.3	+	13	1680	c.1630G>A	c.(1630-1632)Gtg>Atg	p.V544M	SLC34A2_ENST00000503434.1_Missense_Mutation_p.V543M|SLC34A2_ENST00000504570.1_Missense_Mutation_p.V543M	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	544					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				CCCGCTGACGGTGTTTGGCCT	0.607000			T	ROS1	NSCLC								59	98					0	0	0.003610	0	0
ACACA	31	broad.mit.edu	37	17	35609886	35609886	+	Silent	SNP	A	A	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:35609886A>G	ENST00000353139.5	-	15	2384	c.1903T>C	c.(1903-1905)Tta>Cta	p.L635L	ACACA_ENST00000335166.5_Silent_p.L520L|ACACA_ENST00000360679.3_Silent_p.L540L|ACACA_ENST00000394406.2_Silent_p.L598L	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	598					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)	TCAGTCTCTAACAATTTGATC	0.433000													40	67					0	0	0.006999	0	0
CEACAM7	1087	broad.mit.edu	37	19	42187889	42187889	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:42187889A>G	ENST00000006724.3	-	3	734	c.533T>C	c.(532-534)cTg>cCg	p.L178P	CEACAM7_ENST00000401731.1_Missense_Mutation_p.L178P|CEACAM7_ENST00000602225.1_Intron|CEACAM7_ENST00000338196.4_Intron	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	178	Ig-like C2-type.					anchored to membrane|integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		TACCCACCACAGGTAGGTTGT	0.507000													40	93					0	0	0.006999	0	0
GJA4	2701	broad.mit.edu	37	1	35260571	35260571	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:35260571G>A	ENST00000342280.4	+	2	845	c.757G>A	c.(757-759)Ggc>Agc	p.G253S		NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN	gap junction protein, alpha 4, 37kDa	253					cell-cell junction assembly	integral to plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				CCCGACCCAGGGCACCTCCTC	0.652000													11	26					0	0	0.000978	0	0
SCAND3	114821	broad.mit.edu	37	6	28541289	28541289	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:28541289C>T	ENST00000452236.2	-	4	2994	c.2377G>A	c.(2377-2379)Gaa>Aaa	p.E793K		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	793					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						tcaaagaattcttttggttgt	0.323000													12	31					0	0	0.001368	0	0
ACE2	59272	broad.mit.edu	37	X	15582305	15582305	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:15582305C>T	ENST00000427411.1	-	18	2367	c.2151G>A	c.(2149-2151)ctG>ctA	p.L717L	ACE2_ENST00000252519.3_Silent_p.L717L|ACE2_ENST00000471548.1_5'UTR	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	717					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	TGTTGTCATTCAGACGGAAAG	0.438000													53	99					0	0	0.003610	0	0
OR4X1	390113	broad.mit.edu	37	11	48286018	48286018	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:48286018C>T	ENST00000320048.1	+	1	606	c.606C>T	c.(604-606)ggC>ggT	p.G202G		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						CCAATGGCGGCTCCATCTCCG	0.547000													23	15					0	0	0.002780	0	0
KEL	3792	broad.mit.edu	37	7	142654920	142654920	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:142654920G>A	ENST00000355265.2	-	6	1140	c.666C>T	c.(664-666)gtC>gtT	p.V222V	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	222					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TCACCTGGATGACTGGTGTGT	0.527000													25	87					0	0	0.004656	0	0
SIRPD	128646	broad.mit.edu	37	20	1532446	1532446	+	Silent	SNP	G	G	A	rs111431969		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:1532446G>A	ENST00000381623.3	-	2	1501	c.312C>T	c.(310-312)atC>atT	p.I104I	SIRPD_ENST00000381621.1_Silent_p.I104I			Q9H106	SIRPD_HUMAN	signal-regulatory protein delta	104	Ig-like V-type.					extracellular region				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						AGATTTCACGGATGCGGGTGG	0.458000													40	62					0	0	0.006999	0	0
CSGALNACT2	55454	broad.mit.edu	37	10	43651086	43651086	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:43651086C>T	ENST00000374466.3	+	2	824	c.489C>T	c.(487-489)ctC>ctT	p.L163L	CSGALNACT2_ENST00000374464.1_Silent_p.L163L	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	163					chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AAATGGGTCTCACTCGCCATC	0.413000													12	29					0	0	0.002450	0	0
FAM86HP	729375	broad.mit.edu	37	3	129830228	129830228	+	RNA	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:129830228G>A	ENST00000500074.2	-	0	48																											ACCTGCCAGGGGAAGGAGCGC	0.706000													4	3					0	0	0.000602	0	0
MARCO	8685	broad.mit.edu	37	2	119732105	119732105	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:119732105G>A	ENST00000541757.1	+	7	723	c.343G>A	c.(343-345)Gga>Aga	p.G115R	MARCO_ENST00000327097.4_Missense_Mutation_p.G193R			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	193					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						AGGCCCCTCGGGACCCCAAGG	0.542000													11	40					0	0	0.003163	0	0
ZC3HAV1	56829	broad.mit.edu	37	7	138732568	138732568	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:138732568G>A	ENST00000242351.5	-	13	2797	c.2481C>T	c.(2479-2481)tcC>tcT	p.S827S	ZC3HAV1_ENST00000464606.1_Silent_p.S949S	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	827	PARP catalytic.				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						AATTTTTGTGGGAATAGATGG	0.338000													11	61					0	0	0.001368	0	0
THSD7B	80731	broad.mit.edu	37	2	137990487	137990487	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:137990487C>T	ENST00000409968.1	+	9	2112	c.1934C>T	c.(1933-1935)cCt>cTt	p.P645L	THSD7B_ENST00000272643.3_Missense_Mutation_p.P645L|THSD7B_ENST00000413152.2_Missense_Mutation_p.P614L|THSD7B_ENST00000543459.1_Intron					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CCATGTCCCCCTAGTCAGGCT	0.458000													13	29					0	0	0.002450	0	0
KRT19P2	160313	broad.mit.edu	37	12	95228418	95228418	+	RNA	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:95228418G>A	ENST00000405395.2	+	0	189					NR_036685.1																						GCATGAGGAGGAAATCAATGC	0.557000													7	12					0	0	0.003080	0	0
CCDC167	154467	broad.mit.edu	37	6	37452896	37452896	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:37452896C>T	ENST00000373408.3	-	2	175	c.117G>A	c.(115-117)cgG>cgA	p.R39R		NM_138493.2	NP_612502.1	Q9P0B6	CF129_HUMAN	coiled-coil domain containing 167	39						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6						GGCTCAGCTCCCGGCTGTGGA	0.622000													42	27					0	0	0.002522	0	0
OGT	8473	broad.mit.edu	37	X	70787443	70787443	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:70787443C>T	ENST00000373719.3	+	20	2900	c.2683C>T	c.(2683-2685)Ctg>Ttg	p.L895L	OGT_ENST00000373701.3_Silent_p.L885L	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	895					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					AAACATGGGCCTGCCCCAGAA	0.468000													16	45					0	0	0.004007	0	0
ZAN	7455	broad.mit.edu	37	7	100361455	100361455	+	RNA	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:100361455C>T	ENST00000542585.1	+	0	4161				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GTGGTGAATTCCCCGTCTTGT	0.557000													35	100					0	0	0.004878	0	0
PCDHB13	56123	broad.mit.edu	37	5	140594388	140594388	+	Silent	SNP	C	C	T	rs137857098		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:140594388C>T	ENST00000341948.4	+	1	880	c.693C>T	c.(691-693)atC>atT	p.I231I		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		231	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGTCTACATCGAAGTCCTGG	0.532000													50	138					0	0	0.003610	0	0
OR2G3	81469	broad.mit.edu	37	1	247769028	247769028	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:247769028C>T	ENST00000320002.2	+	1	173	c.141C>T	c.(139-141)atC>atT	p.I47I	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CCATAATCATCATCTCATATC	0.458000													66	213					0	0	0.003610	0	0
ATAT1	79969	broad.mit.edu	37	6	30594768	30594768	+	Splice_Site	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:30594768C>T	ENST00000376483.4	+	1	116	c.107_splice	c.e1+1	p.R36_splice	ATAT1_ENST00000329992.8_Splice_Site_p.R36_splice|ATAT1_ENST00000330083.5_5'UTR|ATAT1_ENST00000319027.5_Splice_Site_p.R36_splice|ATAT1_ENST00000468713.1_3'UTR|ATAT1_ENST00000318999.7_Splice_Site_p.R36_splice|ATAT1_ENST00000376485.4_Splice_Site_p.R36_splice|ATAT1_ENST00000376478.2_Splice_Site_p.R36_splice			Q5SQI0	ATAT_HUMAN	alpha tubulin acetyltransferase 1	36							tubulin N-acetyltransferase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	9						AACGCCGGCCCGGTGACAGCT	0.662000													7	12					0	0	0.001984	0	0
PLCH1	23007	broad.mit.edu	37	3	155212159	155212159	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:155212159G>A	ENST00000460012.1	-	16	2309	c.1952C>T	c.(1951-1953)cCt>cTt	p.P651L	PLCH1_ENST00000447496.2_Missense_Mutation_p.P669L|PLCH1_ENST00000414191.1_Missense_Mutation_p.P651L|PLCH1_ENST00000334686.6_Missense_Mutation_p.P651L|PLCH1_ENST00000494598.1_Missense_Mutation_p.P669L|PLCH1_ENST00000340059.7_Missense_Mutation_p.P669L			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	669	PI-PLC Y-box.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GTAGGGGAGAGGGTTGAAGTT	0.458000													10	56					0	0	0.001855	0	0
KCNK1	3775	broad.mit.edu	37	1	233807252	233807252	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:233807252C>T	ENST00000366621.3	+	3	1155	c.987C>T	c.(985-987)tgC>tgT	p.C329C	KCNK1_ENST00000472190.1_3'UTR|KCNK1_ENST00000366620.1_Silent_p.C213C	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	329						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	CATCTGCCTGCGTGGATGGCC	0.498000													18	86					0	0	0.007413	0	0
MAGEB10	139422	broad.mit.edu	37	X	27839460	27839460	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:27839460G>A	ENST00000356790.2	+	3	282	c.37G>A	c.(37-39)Gaa>Aaa	p.E13K		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	13										NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						CCGTGCCAGGGAAAAACGCCG	0.527000													15	39					0	0	0.006122	0	0
EPRS	2058	broad.mit.edu	37	1	220192405	220192405	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:220192405G>A	ENST00000366923.3	-	11	1635	c.1366C>T	c.(1366-1368)Cct>Tct	p.P456S		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	456	Glutamyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	CGAACCGTAGGAAATCTTGGG	0.378000													23	50					0	0	0.004656	0	0
SSR4	6748	broad.mit.edu	37	X	153062943	153062943	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:153062943A>T	ENST00000320857.3	+	4	1301	c.217A>T	c.(217-219)Aaa>Taa	p.K73*	SSR4_ENST00000370085.3_Intron|SSR4_ENST00000460616.1_3'UTR|SSR4_ENST00000370087.1_Nonsense_Mutation_p.K73*|SSR4_ENST00000370086.3_Nonsense_Mutation_p.K73*	NM_001204526.1	NP_001191455.1	P51571	SSRD_HUMAN	signal sequence receptor, delta	73					intracellular protein transport	integral to membrane|Sec61 translocon complex	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(1)|lung(2)	4	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CGTCGGTGGAAAACAATTCCC	0.612000													15	55					0	0	0.004990	0	0
KLK6	5653	broad.mit.edu	37	19	51465129	51465129	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:51465129G>A	ENST00000376851.3	-	5	892	c.453C>T	c.(451-453)ttC>ttT	p.F151F	KLK6_ENST00000456750.2_Silent_p.F44F|KLK6_ENST00000391808.1_Silent_p.F44F|CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000310157.2_Silent_p.F151F|KLK6_ENST00000376853.4_Intron|KLK6_ENST00000594641.1_Silent_p.F151F	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	151	Peptidase S1.				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		TGGTGTCAGGGAAATCACCTG	0.587000													22	46					0	0	0.003330	0	0
SCN1A	6323	broad.mit.edu	37	2	166896101	166896101	+	Silent	SNP	G	G	A	rs145101180	byFrequency	TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:166896101G>A	ENST00000423058.2	-	14	2438	c.2421C>T	c.(2419-2421)ttC>ttT	p.F807F	SCN1A_ENST00000303395.4_Silent_p.F807F|SCN1A_ENST00000375405.3_Silent_p.F796F|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Silent_p.F779F|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000595647.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	807						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)	AGATCCCAGTGAAAACCTAAG	0.318000													10	20					0	0	0.000978	0	0
ZPLD1	131368	broad.mit.edu	37	3	102175104	102175104	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:102175104G>A	ENST00000306176.1	+	4	543	c.443G>A	c.(442-444)gGa>gAa	p.G148E	ZPLD1_ENST00000491959.1_Missense_Mutation_p.G132E|ZPLD1_ENST00000466937.1_Missense_Mutation_p.G132E	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	132	ZP.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						AATATTTCAGGATATATTGAT	0.358000													26	102					0	0	0.003330	0	0
EWSR1	2130	broad.mit.edu	37	22	29684726	29684726	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr22:29684726C>T	ENST00000397938.2	+	8	1244	c.925C>T	c.(925-927)Cgt>Tgt	p.R309C	EWSR1_ENST00000333395.6_Missense_Mutation_p.R309C|EWSR1_ENST00000332035.6_Missense_Mutation_p.R253C|EWSR1_ENST00000414183.2_Missense_Mutation_p.R315C|EWSR1_ENST00000332050.6_Intron|EWSR1_ENST00000331029.7_Missense_Mutation_p.R309C|EWSR1_ENST00000406548.1_Missense_Mutation_p.R309C	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	309	Arg/Gly/Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGGATTTGATCGTGGAGGCAT	0.547000			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""								8	19					0	0	0.003080	0	0
GPR156	165829	broad.mit.edu	37	3	119887108	119887108	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:119887108G>A	ENST00000464295.1	-	10	1661	c.1216C>T	c.(1216-1218)Ccg>Tcg	p.P406S	GPR156_ENST00000461057.1_Missense_Mutation_p.P402S|GPR156_ENST00000315843.3_Missense_Mutation_p.P406S			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	406						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		TCCTTGTTCGGGGAAGAGGCA	0.592000													25	21					0	0	0.006320	0	0
TKTL2	84076	broad.mit.edu	37	4	164393468	164393468	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:164393468G>A	ENST00000280605.3	-	1	1579	c.1419C>T	c.(1417-1419)ttC>ttT	p.F473F		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	473						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TGGTTCGAATGAAGCACATTC	0.453000													37	67					0	0	0.003755	0	0
RP1	6101	broad.mit.edu	37	8	55539605	55539605	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:55539605G>A	ENST00000220676.1	+	4	3311	c.3163G>A	c.(3163-3165)Gaa>Aaa	p.E1055K		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1055					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGTTTACCAGGAAATAAACCT	0.378000													34	64					0	0	0.002445	0	0
PREX2	80243	broad.mit.edu	37	8	69002888	69002888	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:69002888G>A	ENST00000288368.4	+	20	2465	c.2188G>A	c.(2188-2190)Gag>Aag	p.E730K	PREX2_ENST00000529398.1_3'UTR|RP11-403D15.2_ENST00000526901.1_RNA	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	730	PDZ 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	p.E730*(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TGTCAGCAAAGAGACACATGC	0.468000													21	46					0	0	0.001882	0	0
TTN	7273	broad.mit.edu	37	2	179589255	179589255	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:179589255G>A	ENST00000589042.1	-	72	21071	c.20847C>T	c.(20845-20847)gtC>gtT	p.V6949V	RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.V6632V|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.V5705V|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6632	Ig-like 51.						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)			TCTCAACAATGACTGCGGGCT	0.468000													12	30					0	0	0.001855	0	0
SPANXC	64663	broad.mit.edu	37	X	140335748	140335748	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:140335748C>T	ENST00000358993.2	-	2	234	c.196G>A	c.(196-198)Gaa>Aaa	p.E66K		NM_022661.2	NP_073152.1	Q9NY87	SPNXC_HUMAN	SPANX family, member C	66						cytoplasm|nucleus				large_intestine(2)|lung(3)|pancreas(1)	6	Acute lymphoblastic leukemia(192;7.65e-05)					TTCAGCAGTTCCTCTGGAGAT	0.468000													87	243					0	0	0.003610	0	0
RNF213	57674	broad.mit.edu	37	17	78362453	78362453	+	Silent	SNP	A	A	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:78362453A>G	ENST00000582970.1	+	64	15107	c.14964A>G	c.(14962-14964)gaA>gaG	p.E4988E	RNF213_ENST00000336301.6_Silent_p.E3061E|CTD-2047H16.4_ENST00000573394.1_RNA|RNF213_ENST00000427003.3_3'UTR|CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Silent_p.E5037E	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	1145										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GGAACTATGAACATCTCTTTA	0.433000													77	153					0	0	0.003610	0	0
STAMBPL1	57559	broad.mit.edu	37	10	90673100	90673100	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:90673100C>T	ENST00000371927.3	+	6	1621	c.663C>T	c.(661-663)tcC>tcT	p.S221S	STAMBPL1_ENST00000371926.3_Silent_p.S221S|STAMBPL1_ENST00000371924.1_Silent_p.S221S|STAMBPL1_ENST00000371922.1_Silent_p.S55S			Q96FJ0	STALP_HUMAN	STAM binding protein-like 1	221							metal ion binding|metallopeptidase activity|protein binding			breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		AGAACAATTCCTTGCTGAATG	0.478000													20	59					0	0	0.010504	0	0
FGF16	8823	broad.mit.edu	37	X	76711906	76711906	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:76711906G>A	ENST00000439435.1	+	2	243	c.243G>A	c.(241-243)ggG>ggA	p.G81G				O43320	FGF16_HUMAN	fibroblast growth factor 16	0					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|metabolic process|organ morphogenesis|response to temperature stimulus	extracellular space	growth factor activity			NS(1)|breast(1)|lung(2)	4						CTCACCCCGGGAGGGATACAG	0.473000													26	55					0	0	0.004656	0	0
VRTN	55237	broad.mit.edu	37	14	74824771	74824771	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:74824771C>T	ENST00000256362.4	+	2	1526	c.1285C>T	c.(1285-1287)Cct>Tct	p.P429S		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	429					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						ACGCAGGTTCCCTGGCATCTC	0.572000													32	65					0	0	0.003271	0	0
SPERT	220082	broad.mit.edu	37	13	46287907	46287907	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr13:46287907C>T	ENST00000378966.3	+	2	1055	c.639C>T	c.(637-639)ctC>ctT	p.L213L	SPERT_ENST00000310521.1_Silent_p.L249L			Q8NA61	SPERT_HUMAN	spermatid associated	249						cytoplasmic membrane-bounded vesicle				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		CCCTGCAGCTCCTCCGGGAGG	0.672000													5	16					0	0	0.000602	0	0
C17orf53	78995	broad.mit.edu	37	17	42225865	42225865	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:42225865C>T	ENST00000319977.4	+	3	931	c.694C>T	c.(694-696)Cct>Tct	p.P232S	C17orf53_ENST00000245382.6_Missense_Mutation_p.P232S|C17orf53_ENST00000585683.1_Missense_Mutation_p.P232S	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	232										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GTCTCTAGATCCTGTCATCCA	0.552000													51	109					0	0	0.003610	0	0
KCTD16	57528	broad.mit.edu	37	5	143586533	143586533	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:143586533C>T	ENST00000507359.2	+	2	1347	c.256C>T	c.(256-258)Ctg>Ttg	p.L86L	KCTD16_ENST00000512467.1_Silent_p.L86L	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	86	BTB.					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			CCGTTATATTCTGGACTATCT	0.458000													12	21					0	0	0.001855	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50187179	50187179	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:50187179G>A	ENST00000335999.6	-	10	3497	c.3296C>T	c.(3295-3297)tCg>tTg	p.S1099L		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	1095	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						GCTGTCCTCCGAGGGCATCTC	0.662000													23	52					0	0	0.006320	0	0
BAGE2	85319	broad.mit.edu	37	21	11058201	11058201	+	RNA	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr21:11058201G>A	ENST00000470054.1	-	0	446									B melanoma antigen family, member 2															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)		GACAAAGCAGGAAGATGTGAC	0.398000													4	78					0	0	0.000602	0	0
FLG2	388698	broad.mit.edu	37	1	152325163	152325163	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:152325163C>T	ENST00000388718.5	-	3	5171	c.5099G>A	c.(5098-5100)gGa>gAa	p.G1700E	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1700							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTGGTATCTCCTGTCTGTCC	0.488000													260	204					0	0	0.003610	0	0
GABRG1	2565	broad.mit.edu	37	4	46060539	46060539	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:46060539C>T	ENST00000295452.4	-	6	893	c.726G>A	c.(724-726)ggG>ggA	p.G242G		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	242					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		AGTTCCGTAACCCTACAAATG	0.333000													8	27					0	0	0.006214	0	0
MC2R	4158	broad.mit.edu	37	18	13885119	13885119	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:13885119G>A	ENST00000327606.3	-	2	579	c.399C>T	c.(397-399)ttC>ttT	p.F133F		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	133					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	GCAGTGCGTGGAAGATGGTGA	0.582000													13	40					0	0	0.001368	0	0
TTC40	54777	broad.mit.edu	37	10	134627675	134627675	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:134627675C>T	ENST00000368586.5	-	54	7469	c.7369G>A	c.(7369-7371)Gga>Aga	p.G2457R	TTC40_ENST00000263170.5_Missense_Mutation_p.G618R	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	618										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						TGCTTGCTTCCCAGATGTCCC	0.587000													17	14					0	0	0.007413	0	0
WBSCR17	64409	broad.mit.edu	37	7	70800608	70800608	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:70800608C>A	ENST00000333538.5	+	2	945	c.311C>A	c.(310-312)tCc>tAc	p.S104Y	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	104						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GCTACTCTTTCCCCGGCTGAA	0.463000													19	39					8.28177e-16	8.47877e-16	0.007413	1	0
EPHA7	2045	broad.mit.edu	37	6	94067992	94067992	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:94067992G>A	ENST00000369303.4	-	4	1154	c.970C>T	c.(970-972)Cca>Tca	p.P324S		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	324	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GCAACGTATGGTGGGTCAGAT	0.418000													22	37					0	0	0.003330	0	0
SEMA4C	54910	broad.mit.edu	37	2	97526701	97526701	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:97526701G>A	ENST00000305476.5	-	15	2296	c.2164C>T	c.(2164-2166)Ccc>Tcc	p.P722S		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	722	Pro-rich.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						TCAGGACAGGGCCGGAAGGGG	0.607000													14	29					0	0	0.001855	0	0
CPNE6	9362	broad.mit.edu	37	14	24542791	24542791	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:24542791G>A	ENST00000397016.2	+	4	563	c.252G>A	c.(250-252)aaG>aaA	p.K84K	CPNE6_ENST00000560092.1_3'UTR|CPNE6_ENST00000216775.2_Silent_p.K84K|CPNE6_ENST00000537691.1_Silent_p.K139K			O95741	CPNE6_HUMAN	copine VI (neuronal)	84	C2 1.				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		TTGAGGAGAAGCAGCCCCTGC	0.587000													26	70					0	0	0.004656	0	0
LRP1B	53353	broad.mit.edu	37	2	141032006	141032006	+	Missense_Mutation	SNP	C	C	T	rs150457308	byFrequency	TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:141032006C>T	ENST00000389484.3	-	85	14100	c.13129G>A	c.(13129-13131)Gat>Aat	p.D4377N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4377					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.D4377Y(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAAAATATATCTTCACTGTCT	0.383000										TSP Lung(27;0.18)			10	28					0	0	0.008291	0	0
ITGB4	3691	broad.mit.edu	37	17	73727398	73727398	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:73727398G>A	ENST00000200181.3	+	10	1351	c.1164G>A	c.(1162-1164)aaG>aaA	p.K388K	ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000339591.3_Silent_p.K388K|ITGB4_ENST00000449880.2_Silent_p.K388K|ITGB4_ENST00000579662.1_Silent_p.K388K|ITGB4_ENST00000450894.3_Silent_p.K388K	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	388					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)			TCACCTCCAAGATGTTCCAGA	0.637000													22	66					0	0	0.003330	0	0
TTC18	118491	broad.mit.edu	37	10	75082833	75082833	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:75082833G>A	ENST00000310715.3	-	10	1130	c.1010C>T	c.(1009-1011)tCg>tTg	p.S337L	TTC18_ENST00000401621.2_Missense_Mutation_p.S337L|TTC18_ENST00000394865.1_Missense_Mutation_p.S337L|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000493787.1_Intron	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	337							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					ACCATGAAACGAAAGCTGAGC	0.403000													23	36					0	0	0.003954	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204399119	204399119	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:204399119G>A	ENST00000367187.3	-	30	4884	c.4328C>T	c.(4327-4329)gCc>gTc	p.A1443V	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.A1415V|RP11-739N20.2_ENST00000443515.1_RNA	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1443	PX.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CCGCCGCTCGGCCACCGCCTC	0.657000													80	24					0	0	0.003610	0	0
OTUD7B	56957	broad.mit.edu	37	1	149942998	149942998	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:149942998G>A	ENST00000369135.3	-	3	561	c.267C>T	c.(265-267)atC>atT	p.I89I	OTUD7B_ENST00000479905.1_5'UTR	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU domain containing 7B	89					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			TACCTTGAACGATGTCATCCT	0.522000													56	63					0	0	0.003610	0	0
PDGFRB	5159	broad.mit.edu	37	5	149497198	149497198	+	Silent	SNP	A	A	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:149497198A>C	ENST00000261799.4	-	22	3589	c.3120T>G	c.(3118-3120)ggT>ggG	p.G1040G		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	1040					aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GGCTGGGGGAACCCTCCAGTG	0.607000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								11	51					0	0	0.004007	0	0
SHOX	6473	broad.mit.edu	37	X	595510	595510	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:595510C>T	ENST00000381578.1	+	3	1126	c.435C>T	c.(433-435)ttC>ttT	p.F145F	SHOX_ENST00000334060.3_Silent_p.F145F|SHOX_ENST00000554971.1_Silent_p.F145F|SHOX_ENST00000381575.1_Silent_p.F145F	NM_000451.3	NP_000442.1	O15266	SHOX_HUMAN	short stature homeobox	145					skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|lung(9)|prostate(1)	13		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)				CCGACGCCTTCATGCGCGAGG	0.692000													6	13					0	0	0.001168	0	0
THSD7B	80731	broad.mit.edu	37	2	138208496	138208496	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:138208496C>T	ENST00000409968.1	+	15	3219	c.3041C>T	c.(3040-3042)tCa>tTa	p.S1014L	THSD7B_ENST00000272643.3_Missense_Mutation_p.S1014L|THSD7B_ENST00000413152.2_Missense_Mutation_p.S983L|THSD7B_ENST00000543459.1_Intron					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TCTTGCAGTTCATCTTGTGGA	0.403000													7	24					0	0	0.003080	0	0
ZNF182	7569	broad.mit.edu	37	X	47842375	47842375	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:47842375C>T	ENST00000396965.1	-	6	613	c.263G>A	c.(262-264)gGa>gAa	p.G88E	ZNF182_ENST00000305127.6_Missense_Mutation_p.G88E|ZNF182_ENST00000376943.3_Missense_Mutation_p.G69E	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	88	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						TGGGATTTTTCCTTCTGCCGG	0.483000													17	45					0	0	0.007413	0	0
PCDHA1	56147	broad.mit.edu	37	5	140166584	140166584	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:140166584G>A	ENST00000504120.2	+	1	709	c.709G>A	c.(709-711)Gat>Aat	p.D237N	PCDHA1_ENST00000394633.3_Missense_Mutation_p.D237N|PCDHA1_ENST00000378133.3_Missense_Mutation_p.D237N	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGACGTTAATGATAACGCCCC	0.478000													29	56					0	0	0.009535	0	0
REV1	51455	broad.mit.edu	37	2	100050810	100050810	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:100050810G>A	ENST00000258428.3	-	8	1650	c.1422C>T	c.(1420-1422)atC>atT	p.I474I	REV1_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_Silent_p.I474I	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	474	UmuC.				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGCCTTTCAGGATTTTATTCT	0.458000								Direct reversal of damage					24	48					0	0	0.003954	0	0
COL28A1	340267	broad.mit.edu	37	7	7516760	7516760	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:7516760C>T	ENST00000399429.3	-	14	1356	c.1216G>A	c.(1216-1218)Gga>Aga	p.G406R		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	406					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CCTGGAAATCCTTCTCCGGGT	0.473000													25	54					0	0	0.008361	0	0
XKR5	389610	broad.mit.edu	37	8	6673346	6673346	+	RNA	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:6673346G>A	ENST00000518724.1	-	0	1052							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		AATCCAGACAGGACCCCAGCT	0.507000											OREG0018511	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	12					0	0	0.001984	0	0
ZNF563	147837	broad.mit.edu	37	19	12430286	12430286	+	Nonsense_Mutation	SNP	G	G	A	rs150045277		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:12430286G>A	ENST00000293725.5	-	4	758	c.553C>T	c.(553-555)Cga>Tga	p.R185*	ZNF563_ENST00000595977.1_Nonsense_Mutation_p.R185*	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	185					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						ATGTGTCTTCGAAGGTTTCTA	0.418000													38	100					0	0	0.005524	0	0
AMER1	139285	broad.mit.edu	37	X	63412488	63412488	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:63412488C>T	ENST00000330258.3	-	2	951	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K	AMER1_ENST00000403336.1_Missense_Mutation_p.E227K|AMER1_ENST00000374869.3_Missense_Mutation_p.E227K	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									TTAGCATTTTCCTTTCTAGGG	0.552000													36	78					0	0	0.005524	0	0
S100A8	6279	broad.mit.edu	37	1	153362584	153362584	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:153362584C>T	ENST00000368733.3	-	3	446	c.277G>A	c.(277-279)Gag>Aag	p.E93K	S100A8_ENST00000368732.1_Missense_Mutation_p.E93K	NM_002964.4	NP_002955.2	P05109	S10A8_HUMAN	S100 calcium binding protein A8	93				VAAHKKSHEESHKE -> WQPTKKAMKKATKSS (in Ref. 1; CAA68390).	chemotaxis	cytoplasm|cytoskeleton|plasma membrane	calcium ion binding|protein binding			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTCAGCTACTCTTTGTGGCTT	0.473000													29	174					0	0	0.008361	0	0
SYK	6850	broad.mit.edu	37	9	93640054	93640054	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:93640054G>A	ENST00000375754.4	+	10	1531	c.1383G>A	c.(1381-1383)caG>caA	p.Q461Q	SYK_ENST00000375751.4_Silent_p.Q438Q|SYK_ENST00000375747.1_Silent_p.Q438Q|SYK_ENST00000375746.1_Silent_p.Q461Q	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	461	Protein kinase.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						AGTATTTGCAGCAGAACAGGT	0.557000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""								12	32					0	0	0.001368	0	0
MMP27	64066	broad.mit.edu	37	11	102573610	102573610	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:102573610G>A	ENST00000260229.4	-	4	584	c.493C>T	c.(493-495)Cat>Tat	p.H165Y		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	165					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		CACCGACCATGGACTGAGATA	0.473000													14	32					0	0	0.001855	0	0
ATP6V1B2	526	broad.mit.edu	37	8	20072457	20072457	+	Silent	SNP	T	T	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:20072457T>C	ENST00000276390.2	+	10	1096	c.1056T>C	c.(1054-1056)ccT>ccC	p.P352P		NM_001693.3	NP_001684.2	P21281	VATB2_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2	352					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|endomembrane system|Golgi apparatus|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(1)|kidney(2)|lung(5)|prostate(1)	9				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)		CTCAAATCCCTATTCTAACCA	0.413000													26	49					0	0	0.005443	0	0
GPR112	139378	broad.mit.edu	37	X	135390975	135390975	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:135390975G>A	ENST00000394143.1	+	4	330	c.39G>A	c.(37-39)ttG>ttA	p.L13L	GPR112_ENST00000287534.4_5'UTR|GPR112_ENST00000412101.1_Silent_p.L13L|GPR112_ENST00000394141.1_Silent_p.L13L|GPR112_ENST00000370652.1_Silent_p.L13L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	13					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TTTATGGATTGATTCTCATGT	0.294000													33	84					0	0	0.002836	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174302	150174302	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:150174302C>T	ENST00000307271.3	+	5	2006	c.1432C>T	c.(1432-1434)Cag>Tag	p.Q478*		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	478						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CAAGACCAGCCAGAGTGGCAG	0.612000													15	59					0	0	0.001882	0	0
DST	667	broad.mit.edu	37	6	56374636	56374636	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:56374636C>T	ENST00000370754.5	-	74	18722	c.18723G>A	c.(18721-18723)ctG>ctA	p.L6241L	DST_ENST00000244364.6_Silent_p.L3649L|DST_ENST00000421834.2_Silent_p.L3975L|DST_ENST00000446842.2_Silent_p.L5737L|DST_ENST00000361203.3_Silent_p.L5952L|DST_ENST00000370788.2_Silent_p.L3866L|DST_ENST00000340834.4_5'UTR|DST_ENST00000370769.4_Silent_p.L6063L|DST_ENST00000312431.6_3'UTR			Q03001	DYST_HUMAN	dystonin	6061					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CGATGCGTTCCAGGCTCTCAA	0.413000													11	45					0	0	0.000978	0	0
PTPRG	5793	broad.mit.edu	37	3	62259508	62259508	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:62259508A>T	ENST00000474889.1	+	23	3831	c.3454A>T	c.(3454-3456)Aag>Tag	p.K1152*	PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG_ENST00000295874.10_Nonsense_Mutation_p.K1123*|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	1152	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		ACGACTGGAAAAGCAATTCAA	0.388000													12	34					0	0	0.001368	0	0
CDH8	1006	broad.mit.edu	37	16	61747794	61747794	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:61747794G>A	ENST00000577390.1	-	10	2559	c.1605C>T	c.(1603-1605)ctC>ctT	p.L535L	CDH8_ENST00000580044.1_5'UTR|CDH8_ENST00000577730.1_Silent_p.L535L|CDH8_ENST00000299345.6_Silent_p.L535L	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	535	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TTTCTGGAAGGAGACTGTATA	0.348000													10	38					0	0	0.006214	0	0
MYC	4609	broad.mit.edu	37	8	128750945	128750945	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:128750945C>T	ENST00000377970.2	+	2	992	c.482C>T	c.(481-483)tCa>tTa	p.S161L	MYC_ENST00000259523.6_Missense_Mutation_p.S146L|MYC_ENST00000524013.1_Missense_Mutation_p.S160L	NM_002467.4	NP_002458.2	P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	146					branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)		AAGCTCGTCTCAGAGAAGCTG	0.622000		3	"""A, T"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""	"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	32					0	0	0.002450	0	0
CNTN4	152330	broad.mit.edu	37	3	2928874	2928874	+	Silent	SNP	G	G	A	rs141461698	by1000genomes	TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:2928874G>A	ENST00000397461.1	+	9	1290	c.906G>A	c.(904-906)ggG>ggA	p.G302G	CNTN4_ENST00000418658.1_Silent_p.G302G|CNTN4_ENST00000427331.1_Silent_p.G302G|CNTN4_ENST00000358480.3_Silent_p.G83G	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	302	Ig-like C2-type 3.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		ATTCCAGAGGGAAAAATGTAG	0.373000													8	26					0	0	0.003080	0	0
TADA2B	93624	broad.mit.edu	37	4	7056043	7056043	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:7056043C>T	ENST00000310074.7	+	2	714	c.525C>T	c.(523-525)atC>atT	p.I175I	TADA2B_ENST00000512388.1_Silent_p.I100I|TADA2B_ENST00000515646.1_Silent_p.I83I	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2B	175					regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|zinc ion binding			breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						ATTACGAGATCGAGTATGACC	0.617000													12	18					0	0	0.000978	0	0
PRC1	9055	broad.mit.edu	37	15	91517854	91517854	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:91517854C>T	ENST00000361188.5	-	10	2522	c.1311G>A	c.(1309-1311)gaG>gaA	p.E437E	PRC1_ENST00000361919.3_Silent_p.E437E|PRC1_ENST00000394249.3_Silent_p.E437E|PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000442656.2_Silent_p.E396E			O43663	PRC1_HUMAN	protein regulator of cytokinesis 1	437	Spectrin-fold.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					ATCGATGCATCTCCCATTGTT	0.433000													266	636					0	0	0.003610	0	0
BRWD1	54014	broad.mit.edu	37	21	40574346	40574346	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr21:40574346G>A	ENST00000342449.3	-	38	4568	c.4490C>T	c.(4489-4491)tCt>tTt	p.S1497F	BRWD1_ENST00000380800.3_Missense_Mutation_p.S1497F|BRWD1_ENST00000333229.2_Missense_Mutation_p.S1497F	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1497					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				AACACCTGAAGAGATACCAGC	0.413000													15	39					0	0	0.002450	0	0
GDF9	2661	broad.mit.edu	37	5	132199880	132199880	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:132199880G>A	ENST00000378673.2	-	2	1212	c.346C>T	c.(346-348)Ctc>Ttc	p.L116F	GDF9_ENST00000464378.1_5'UTR|GDF9_ENST00000296875.2_Missense_Mutation_p.L116F			O60383	GDF9_HUMAN	growth differentiation factor 9	116					female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGGGTGAAGAGCCGAACAGTG	0.483000													25	80					0	0	0.002780	0	0
TTBK2	146057	broad.mit.edu	37	15	43045324	43045324	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:43045324G>A	ENST00000267890.6	-	14	2228	c.2120C>T	c.(2119-2121)cCa>cTa	p.P707L		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	707					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		GTTTTCCCTTGGAGAGTAAAG	0.493000													34	82					0	0	0.003271	0	0
COL12A1	1303	broad.mit.edu	37	6	75797356	75797356	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:75797356G>A	ENST00000322507.8	-	65	9427	c.9118C>T	c.(9118-9120)Cct>Tct	p.P3040S	COL12A1_ENST00000483888.2_Missense_Mutation_p.P3036S|COL12A1_ENST00000416123.2_Missense_Mutation_p.P2964S|COL12A1_ENST00000345356.6_Missense_Mutation_p.P1876S	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	3040	Triple-helical region (COL1) with 2 imperfections.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TATCCAGGAGGACCTGGGGGT	0.577000													42	33					0	0	0.009718	0	0
COL4A2	1284	broad.mit.edu	37	13	111156235	111156235	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr13:111156235C>T	ENST00000360467.5	+	44	4486	c.4180C>T	c.(4180-4182)Ccc>Tcc	p.P1394S	COL4A2-AS1_ENST00000417970.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1394	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TGCAGGAATCCCCCAGAAGAT	0.682000													20	51					0	0	0.004656	0	0
KLKB1	3818	broad.mit.edu	37	4	187173248	187173248	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:187173248C>T	ENST00000264690.6	+	11	1409	c.1222C>T	c.(1222-1224)Ctg>Ttg	p.L408L	KLKB1_ENST00000513864.1_Silent_p.L408L	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	408	Peptidase S1.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		GCAGGTGAGCCTGCAGGTGAA	0.537000													26	54					0	0	0.004656	0	0
OTX2	5015	broad.mit.edu	37	14	57271053	57271053	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:57271053G>A	ENST00000339475.5	-	4	402	c.126C>T	c.(124-126)acC>acT	p.T42T	OTX2_ENST00000554559.1_Intron|OTX2_ENST00000554788.1_Intron|OTX2_ENST00000408990.3_Silent_p.T34T|OTX2_ENST00000555006.1_Silent_p.T34T	NM_001270523.1|NM_001270524.1|NM_001270525.1|NM_021728.3	NP_001257452.1|NP_001257453.1|NP_001257454.1|NP_068374.1	P32243	OTX2_HUMAN	orthodenticle homeobox 2	34					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					GTTTCCGGGGGGTGGCTGCGG	0.637000													17	33					0	0	0.001882	0	0
WBP2NL	164684	broad.mit.edu	37	22	42415351	42415351	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr22:42415351C>T	ENST00000328823.9	+	2	130	c.99C>T	c.(97-99)ttC>ttT	p.F33F		NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	33					egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding			breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						AGCTCTCCTTCCCACAGCGAT	0.408000													22	46					0	0	0.002780	0	0
ACSM1	116285	broad.mit.edu	37	16	20696586	20696586	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:20696586C>T	ENST00000307493.4	-	2	399	c.332G>A	c.(331-333)gGa>gAa	p.G111E	ACSM1_ENST00000520010.1_Missense_Mutation_p.G111E|ACSM1_ENST00000219151.4_5'UTR	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	111					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						CAGATGGTCTCCCTGTTGTAG	0.572000													29	80					0	0	0.008361	0	0
IGKV1D-8	28904	broad.mit.edu	37	2	90260185	90260185	+	RNA	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:90260185C>T	ENST00000471857.1	+	0	469																											TCACTCTCACCATCAGTTGCC	0.488000													54	130					0	0	0.003610	0	0
MCTP2	55784	broad.mit.edu	37	15	94945245	94945245	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:94945245C>T	ENST00000357742.4	+	16	2082	c.2082C>T	c.(2080-2082)ttC>ttT	p.F694F	MCTP2_ENST00000557742.1_Silent_p.F282F|MCTP2_ENST00000331706.4_Silent_p.F282F|MCTP2_ENST00000451018.3_Silent_p.F694F	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	694					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			CAATAGCATTCGCGGTAAGCT	0.383000													11	35					0	0	0.000978	0	0
FBN3	84467	broad.mit.edu	37	19	8175829	8175829	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:8175829C>T	ENST00000600128.1	-	34	4647	c.4233G>A	c.(4231-4233)ggG>ggA	p.G1411G	FBN3_ENST00000270509.2_Silent_p.G1411G|FBN3_ENST00000601739.1_Silent_p.G1411G			Q75N90	FBN3_HUMAN	fibrillin 3	1411	EGF-like 22; 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						CACAGAGGTTCCCTTGCGCAC	0.632000													32	61					0	0	0.009535	0	0
GALNT8	26290	broad.mit.edu	37	12	4853838	4853838	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:4853838G>A	ENST00000252318.2	+	4	1169	c.832G>A	c.(832-834)Gat>Aat	p.D278N		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	278	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						CGCCATCTTGGATGCTCACAT	0.493000													8	22					0	0	0.006214	0	0
ALX4	60529	broad.mit.edu	37	11	44331188	44331188	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:44331188C>T	ENST00000329255.3	-	1	528	c.425G>A	c.(424-426)gGc>gAc	p.G142D		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	142					hair follicle development					central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						GCCGCTGCTGCCTTCCTGGAG	0.692000													9	6					0	0	0.008291	0	0
ADCY5	111	broad.mit.edu	37	3	123008708	123008708	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:123008708C>T	ENST00000462833.1	-	19	4633	c.3421G>A	c.(3421-3423)Gac>Aac	p.D1141N	ADCY5_ENST00000491190.1_Missense_Mutation_p.D799N|ADCY5_ENST00000309879.5_Missense_Mutation_p.D791N	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	1141	Guanylate cyclase 2.				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CCCACCTTGTCGTAGGTAGAG	0.542000													22	70					0	0	0.010504	0	0
ZNF804B	219578	broad.mit.edu	37	7	88964647	88964647	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:88964647A>G	ENST00000333190.4	+	4	2960	c.2351A>G	c.(2350-2352)aAc>aGc	p.N784S		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	784						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AAAGAGAGGAACTGCAAATTG	0.363000										HNSCC(36;0.09)			8	16					0	0	0.003080	0	0
PSG3	5671	broad.mit.edu	37	19	43233375	43233375	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:43233375G>A	ENST00000327495.5	-	5	1327	c.1143C>T	c.(1141-1143)atC>atT	p.I381I	PSG3_ENST00000595140.1_Silent_p.I381I	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	381	Ig-like C2-type 3.			Missing (in Ref. 9).	defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TAATCTGGGGGATAAAGAGCT	0.458000													80	201					0	0	0.003610	0	0
NXF4	55999	broad.mit.edu	37	X	101818027	101818027	+	RNA	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:101818027G>A	ENST00000360035.2	+	0	724					NR_002216.1															endometrium(2)|lung(8)	10						CATAGCTAAAGGTAATACAGA	0.458000													15	23					0	0	0.002450	0	0
CD86	942	broad.mit.edu	37	3	121822475	121822475	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:121822475G>A	ENST00000330540.2	+	3	297	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K	CD86_ENST00000483949.1_3'UTR|CD86_ENST00000393627.2_Missense_Mutation_p.E55K|CD86_ENST00000264468.5_Intron|CD86_ENST00000493101.1_Intron|CD86_ENST00000469710.1_5'UTR	NM_175862.4	NP_787058.4	P42081	CD86_HUMAN	CD86 molecule	61	Ig-like V-type.				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	GCAGGACCAGGAAAACTTGGT	0.423000													48	46					0	0	0.003610	0	0
NRP1	8829	broad.mit.edu	37	10	33491907	33491907	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:33491907C>T	ENST00000265371.4	-	12	2301	c.1776G>A	c.(1774-1776)ccG>ccA	p.P592P	NRP1_ENST00000466932.1_Intron|NRP1_ENST00000374822.4_Silent_p.P592P|NRP1_ENST00000374823.5_Silent_p.P592P|NRP1_ENST00000395995.1_Silent_p.P592P|NRP1_ENST00000374867.2_Silent_p.P592P|NRP1_ENST00000374821.5_Intron			O14786	NRP1_HUMAN	neuropilin 1	592					axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	TGGGAGTGGTCGGTCCAGCTG	0.502000													15	58					0	0	0.003163	0	0
C8orf4	56892	broad.mit.edu	37	8	40011284	40011284	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:40011284C>T	ENST00000315792.3	+	1	296	c.233C>T	c.(232-234)aCg>aTg	p.T78M		NM_020130.4	NP_064515.1	Q9NR00	CH004_HUMAN	chromosome 8 open reading frame 4	78					apoptosis					breast(1)|large_intestine(1)|ovary(1)	3	Ovarian(28;0.0173)	all_cancers(7;5.34e-21)|all_epithelial(6;1.04e-14)|Lung NSC(58;9.35e-06)|all_lung(54;1.39e-05)|Hepatocellular(245;0.00745)|Breast(189;0.0334)|Colorectal(162;0.0815)|Myeloproliferative disorder(644;0.116)|Esophageal squamous(32;0.141)	LUSC - Lung squamous cell carcinoma(45;0.000149)	KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111)		GAGGAGAAAACGCGTGCCCTG	0.433000													21	62					0	0	0.002780	0	0
EBI3	10148	broad.mit.edu	37	19	4234773	4234773	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:4234773G>A	ENST00000221847.5	+	4	542	c.489G>A	c.(487-489)ctG>ctA	p.L163L		NM_005755.2	NP_005746.2	Q14213	IL27B_HUMAN	Epstein-Barr virus induced 3	163	Fibronectin type-III 2.				humoral immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of interferon-gamma biosynthetic process|T-helper 1 type immune response	extracellular space|plasma membrane	cytokine activity|cytokine receptor activity			large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0336)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTTCTCACTGAAGTACTGGA	0.642000													53	137					0	0	0.003610	0	0
ZBTB22	9278	broad.mit.edu	37	6	33283250	33283250	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:33283250C>T	ENST00000431845.2	-	2	1595	c.1444G>A	c.(1444-1446)Ggg>Agg	p.G482R	ZBTB22_ENST00000418724.1_Missense_Mutation_p.G482R	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	482					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						ATCTTATTCCCGTCCCCACTG	0.632000													58	145					0	0	0.003610	0	0
DNAJC13	23317	broad.mit.edu	37	3	132172289	132172289	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:132172289G>A	ENST00000260818.6	+	7	933	c.685G>A	c.(685-687)Gat>Aat	p.D229N	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	229							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						ATACAGCACTGATGAATCCAT	0.363000													22	42					0	0	0.002780	0	0
GABRR3	200959	broad.mit.edu	37	3	97731240	97731240	+	RNA	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:97731240C>T	ENST00000472788.1	-	0	479					NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 3						gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			large_intestine(2)|lung(1)	3						ATGATATTCTCCATAGTTGTA	0.448000													7	49					0	0	0.001984	0	0
ARHGAP10	79658	broad.mit.edu	37	4	148887936	148887936	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:148887936G>A	ENST00000336498.3	+	18	1901	c.1662G>A	c.(1660-1662)atG>atA	p.M554I	ARHGAP10_ENST00000414545.2_Missense_Mutation_p.M203I	NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10	554	Rho-GAP.				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		CTGCCCTCATGGACTTGAAGT	0.403000													18	47					0	0	0.007413	0	0
ATP8B4	79895	broad.mit.edu	37	15	50209220	50209220	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:50209220G>A	ENST00000284509.6	-	20	2193	c.2052C>T	c.(2050-2052)atC>atT	p.I684I	ATP8B4_ENST00000559829.1_Silent_p.I684I	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	684					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		AGGCATAACCGATGTTGATGG	0.383000													20	59					0	0	0.010504	0	0
LPCAT1	79888	broad.mit.edu	37	5	1494882	1494882	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:1494882G>A	ENST00000283415.3	-	3	558	c.426C>T	c.(424-426)atC>atT	p.I142I		NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	142					phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		TGGTCACAGGGATGGCGTCGA	0.657000													20	48					0	0	0.002780	0	0
RASGRP3	25780	broad.mit.edu	37	2	33740208	33740208	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:33740208G>A	ENST00000403687.3	+	3	745	c.5G>A	c.(4-6)gGa>gAa	p.G2E	RASGRP3_ENST00000407811.1_Missense_Mutation_p.G2E|RASGRP3_ENST00000402538.3_Missense_Mutation_p.G2E	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	2					MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					ATAACCATGGGATCAAGTGGC	0.428000													27	56					0	0	0.006320	0	0
DCC	1630	broad.mit.edu	37	18	50432427	50432427	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:50432427C>T	ENST00000442544.2	+	3	1042	c.426C>T	c.(424-426)ttC>ttT	p.F142F	DCC_ENST00000412726.1_5'UTR	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	142	Ig-like C2-type 2.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CACTGAGGTTCCTTTCACAGA	0.413000													24	33					0	0	0.003954	0	0
KIF4B	285643	broad.mit.edu	37	5	154395111	154395111	+	Silent	SNP	A	A	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:154395111A>G	ENST00000435029.4	+	1	1852	c.1692A>G	c.(1690-1692)ctA>ctG	p.L564L		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	564					axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TAAAAAATCTAGAATTAGAAG	0.423000													18	36					0	0	0.008871	0	0
DCC	1630	broad.mit.edu	37	18	51053115	51053115	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:51053115G>A	ENST00000442544.2	+	28	4856	c.4240G>A	c.(4240-4242)Gag>Aag	p.E1414K	RP11-671P2.1_ENST00000582064.1_RNA|DCC_ENST00000581580.1_Missense_Mutation_p.E1047K	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1414					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CAAACCAACAGAGGATTCAGC	0.483000													14	51					0	0	0.002450	0	0
CFAP54	144535	broad.mit.edu	37	12	97150267	97150267	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:97150267G>A	ENST00000524981.3	+	24	3225	c.3225G>A	c.(3223-3225)gaG>gaA	p.E1075E				Q6ZTY8	CL063_HUMAN		1049										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						TAATGGAAGAGAAATCTCCAA	0.308000													5	22					0	0	0.000602	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45457951	45457951	+	RNA	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:45457951C>T	ENST00000548424.1	+	0	448																											TGAGGAATTTCTCTTTCAGCT	0.423000													11	43					0	0	0.000978	0	0
BBS10	79738	broad.mit.edu	37	12	76740304	76740304	+	Silent	SNP	T	T	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:76740304T>C	ENST00000393262.3	-	2	1544	c.1461A>G	c.(1459-1461)ttA>ttG	p.L487L		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	487					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						AATGTACTTTTAAATATGTTT	0.368000									Bardet-Biedl syndrome				24	61					0	0	0.002780	0	0
PCLO	27445	broad.mit.edu	37	7	82531969	82531969	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:82531969G>A	ENST00000423517.2	-	9	13863	c.13526C>T	c.(13525-13527)tCa>tTa	p.S4509L	PCLO_ENST00000333891.8_Missense_Mutation_p.S4509L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4440					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGCTTTACCTGAAACTGTGTG	0.284000													9	15					0	0	0.008291	0	0
CLK1	1195	broad.mit.edu	37	2	201718044	201718044	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:201718044C>T	ENST00000434813.2	-	13	1900	c.1566G>A	c.(1564-1566)ctG>ctA	p.L522L	CLK1_ENST00000321356.4_Silent_p.L480L|CLK1_ENST00000409769.2_Silent_p.L303L	NM_001162407.1	NP_001155879.1	P49759	CLK1_HUMAN	CDC-like kinase 1	480					cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						TACTTTTCTTCAGAAGGTCAA	0.348000													10	32					0	0	0.006214	0	0
SSBP2	23635	broad.mit.edu	37	5	80785071	80785071	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:80785071G>A	ENST00000320672.4	-	6	640	c.430C>T	c.(430-432)Cag>Tag	p.Q144*	SSBP2_ENST00000505980.1_Intron|SSBP2_ENST00000514493.1_Nonsense_Mutation_p.Q114*|SSBP2_ENST00000509053.1_Nonsense_Mutation_p.Q114*|SSBP2_ENST00000515395.1_Nonsense_Mutation_p.Q114*	NM_001256732.1|NM_001256733.1|NM_012446.3	NP_001243661.1|NP_001243662.1|NP_036578.2	P81877	SSBP2_HUMAN	single-stranded DNA binding protein 2	144	Pro-rich.				regulation of transcription, DNA-dependent	cytoplasm|nucleus	single-stranded DNA binding		SSBP2/JAK2(4)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		AATCTTACCTGATTAGGTATC	0.323000													6	22					0	0	0.001168	0	0
KIAA0195	9772	broad.mit.edu	37	17	73488651	73488651	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:73488651C>T	ENST00000314256.7	+	15	2087	c.1693C>T	c.(1693-1695)Ccc>Tcc	p.P565S	KIAA0195_ENST00000579208.1_Missense_Mutation_p.P216S|KIAA0195_ENST00000375248.5_Missense_Mutation_p.P575S	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	565					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCAGCAGAACCCCTCCTGCAT	0.592000													31	55					0	0	0.008361	0	0
KLF5	688	broad.mit.edu	37	13	73636402	73636402	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr13:73636402C>T	ENST00000377687.4	+	2	1201	c.665C>T	c.(664-666)cCt>cTt	p.P222L	KLF5_ENST00000539231.1_Missense_Mutation_p.P131L|KLF5_ENST00000477333.1_3'UTR	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	222					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		CTTTCTGTCCCTACCCAGCAG	0.453000													28	57					0	0	0.006320	0	0
KCNQ3	3786	broad.mit.edu	37	8	133141970	133141970	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:133141970G>A	ENST00000388996.4	-	15	2578	c.2158C>T	c.(2158-2160)Ctg>Ttg	p.L720L	KCNQ3_ENST00000519445.1_Silent_p.L708L|KCNQ3_ENST00000521134.1_Silent_p.L600L	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	720					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CCTCGGGGCAGGTTCACAGGG	0.562000													23	33					0	0	0.001882	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20496664	20496664	+	RNA	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:20496664C>T	ENST00000555186.1	+	0	717					NR_038836.1																						AAGCGCCCGGCTGTGTGTGCT	0.433000													4	54					0	0	0.009096	0	0
ARHGAP9	64333	broad.mit.edu	37	12	57869688	57869688	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:57869688G>T	ENST00000393797.2	-	13	1644	c.1452C>A	c.(1450-1452)ttC>ttA	p.F484L	ARHGAP9_ENST00000430041.2_Missense_Mutation_p.F229L|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.F413L|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.F492L|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.F413L|ARHGAP9_ENST00000356411.2_Missense_Mutation_p.F413L			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	413					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			ACTGCAGCAGGAACTCGTGGC	0.647000													9	17					1.33987e-11	1.36331e-11	0.008291	1	0
CD163	9332	broad.mit.edu	37	12	7639223	7639223	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:7639223C>T	ENST00000359156.4	-	10	2532	c.2330G>A	c.(2329-2331)gGa>gAa	p.G777E	CD163_ENST00000432237.2_Missense_Mutation_p.G777E|CD163_ENST00000396620.3_Missense_Mutation_p.G810E|CD163_ENST00000541972.1_Missense_Mutation_p.G765E	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	777	SRCR 7.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						GGGCCCTGTTCCTTCCCCAAA	0.542000													70	142					0	0	0.003610	0	0
MED12L	116931	broad.mit.edu	37	3	150911423	150911423	+	Silent	SNP	A	A	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:150911423A>G	ENST00000474524.1	+	14	2153	c.2115A>G	c.(2113-2115)ttA>ttG	p.L705L	MED12L_ENST00000273432.4_Silent_p.L565L|MED12L_ENST00000309237.4_Silent_p.L740L|MED12L_ENST00000422248.2_Silent_p.L705L	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	705					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTCGCCACTTACAGTATGCAA	0.368000													37	52					0	0	0.008740	0	0
SALL1	6299	broad.mit.edu	37	16	51174819	51174819	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:51174819C>T	ENST00000440970.1	-	2	1454	c.1023G>A	c.(1021-1023)gcG>gcA	p.A341A	SALL1_ENST00000251020.4_Silent_p.A438A|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	438					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A438A(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AAGTACTTTTCGCTTCAAAGG	0.488000													25	88					0	0	0.004656	0	0
ANXA2R	389289	broad.mit.edu	37	5	43040011	43040011	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:43040011C>T	ENST00000314890.3	-	2	1557	c.138G>A	c.(136-138)gaG>gaA	p.E46E		NM_001014279.2	NP_001014301.1	Q3ZCQ2	AX2R_HUMAN	annexin A2 receptor	46							receptor activity										CCAGTGAGTACTCTCCTAGTA	0.582000											OREG0016598	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	51					0	0	0.004990	0	0
PTCHD3	374308	broad.mit.edu	37	10	27687745	27687745	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:27687745G>A	ENST00000438700.3	-	4	1899	c.1782C>T	c.(1780-1782)ccC>ccT	p.P594P		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	594					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						TTGTGAGAAAGGGGCCAAAAT	0.363000													7	20					0	0	0.001984	0	0
CS	1431	broad.mit.edu	37	12	56666955	56666955	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:56666955C>T	ENST00000548567.1	-	12	1586	c.1116G>A	c.(1114-1116)tgG>tgA	p.W372*	CS_ENST00000542324.2_Nonsense_Mutation_p.W425*|CS_ENST00000351328.3_Nonsense_Mutation_p.W438*			O75390	CISY_HUMAN	citrate synthase	438					cellular carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	citrate (Si)-synthase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	17		Myeloproliferative disorder(1001;0.000374)		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)		AGGCTCGGCTCCAGATGAGCT	0.502000													24	37					0	0	0.003330	0	0
FRMD1	79981	broad.mit.edu	37	6	168458000	168458000	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:168458000C>T	ENST00000283309.6	-	11	1491	c.1427G>A	c.(1426-1428)gGg>gAg	p.G476E	FRMD1_ENST00000537786.1_Missense_Mutation_p.G247E|FRMD1_ENST00000432403.1_5'UTR|FRMD1_ENST00000440994.2_Missense_Mutation_p.G408E	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	476						cytoskeleton	binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CTCACTGACCCCGGCTGTCAT	0.662000													6	16					0	0	0.001168	0	0
SPTA1	6708	broad.mit.edu	37	1	158636129	158636129	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:158636129C>T	ENST00000368148.3	-	16	2377	c.2197G>A	c.(2197-2199)Gag>Aag	p.E733K	SPTA1_ENST00000368147.3_Missense_Mutation_p.E733K	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	733					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ACAGCCGACTCCAGGAGGCCG	0.522000													10	12					0	0	0.008291	0	0
RAPGEF5	9771	broad.mit.edu	37	7	22202128	22202128	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:22202128C>T	ENST00000344041.6	-	13	1168	c.856G>A	c.(856-858)Gaa>Aaa	p.E286K	RAPGEF5_ENST00000401957.2_Missense_Mutation_p.E136K	NM_012294.3	NP_036426.3	Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	136					nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						TCTGAGTTTTCCTCTTTGCCT	0.348000													11	36					0	0	0.008291	0	0
KRTAP1-1	81851	broad.mit.edu	37	17	39197308	39197308	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:39197308G>A	ENST00000306271.4	-	1	405	c.342C>T	c.(340-342)acC>acT	p.T114T		NM_030967.2	NP_112229.1	Q07627	KRA11_HUMAN	keratin associated protein 1-1	114						extracellular region|keratin filament				NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1)	14		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACCTGATACGGGTGCTCACAG	0.662000													18	33					0	0	0.006122	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110520061	110520061	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:110520061A>G	ENST00000378402.5	+	69	11268	c.11164A>G	c.(11164-11166)Aag>Gag	p.K3722E		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3722					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)			CAGAATTCCTAAGGCGATGCT	0.433000										HNSCC(38;0.096)			29	58					0	0	0.009535	0	0
DPP3	10072	broad.mit.edu	37	11	66260350	66260350	+	Silent	SNP	C	C	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:66260350C>A	ENST00000532677.1	+	10	1610	c.1209C>A	c.(1207-1209)tcC>tcA	p.S403S	DPP3_ENST00000533799.1_3'UTR|DPP3_ENST00000541961.1_Silent_p.S384S|DPP3_ENST00000531863.1_Silent_p.S404S|DPP3_ENST00000360510.2_Silent_p.S384S|DPP3_ENST00000453114.1_Silent_p.S384S|DPP3_ENST00000530165.1_Silent_p.S354S	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	384					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						TCGCTGGCTCCGGCATCCCTG	0.612000													25	41					1.22384e-17	1.25414e-17	0.002836	1	0
ABCC10	89845	broad.mit.edu	37	6	43413539	43413539	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:43413539A>G	ENST00000244533.3	+	13	3508	c.3149A>G	c.(3148-3150)tAc>tGc	p.Y1050C	ABCC10_ENST00000372530.4_Missense_Mutation_p.Y1078C	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1078	ABC transmembrane type-1 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			AGCATCATGTACTATCACGTG	0.662000													14	51					0	0	0.002450	0	0
PLCB1	23236	broad.mit.edu	37	20	8713986	8713986	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:8713986C>T	ENST00000378641.3	+	19	2465	c.1990C>T	c.(1990-1992)Cca>Tca	p.P664S	PLCB1_ENST00000338037.6_Missense_Mutation_p.P664S|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Missense_Mutation_p.P664S	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	664	C2.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GCATTTTGATCCATTTACTGA	0.413000													13	41					0	0	0.003163	0	0
MUC16	94025	broad.mit.edu	37	19	9076139	9076139	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:9076139G>A	ENST00000397910.4	-	3	11510	c.11307C>T	c.(11305-11307)atC>atT	p.I3769I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3770	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						TAGCTGGGCTGATCATGGTTT	0.527000													46	68					0	0	0.003214	0	0
SH3GLB2	56904	broad.mit.edu	37	9	131777080	131777080	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:131777080G>A	ENST00000372564.3	-	4	583	c.438C>T	c.(436-438)aaC>aaT	p.N146N	SH3GLB2_ENST00000372554.4_Silent_p.N146N|SH3GLB2_ENST00000417224.1_Silent_p.N146N|SH3GLB2_ENST00000416629.1_Silent_p.N146N|SH3GLB2_ENST00000372559.1_Silent_p.N146N	NM_020145.2	NP_064530.1	Q9NR46	SHLB2_HUMAN	SH3-domain GRB2-like endophilin B2	146	BAR.				filopodium assembly|signal transduction	cytoplasm|nucleus	cytoskeletal adaptor activity|SH3 domain binding			NS(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)	12						CCTCCAGGAAGTTGCGCAAGG	0.567000													30	76					0	0	0.009535	0	0
OR4E2	26686	broad.mit.edu	37	14	22134151	22134151	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:22134151C>T	ENST00000408935.1	+	1	855	c.855C>T	c.(853-855)ttC>ttT	p.F285F		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		TGAATCCCTTCATTTACACCT	0.453000													4	28					0	0	0.000602	0	0
MOV10L1	54456	broad.mit.edu	37	22	50552093	50552093	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr22:50552093C>T	ENST00000262794.5	+	6	843	c.760C>T	c.(760-762)Cat>Tat	p.H254Y	MOV10L1_ENST00000545383.1_Missense_Mutation_p.H254Y|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Missense_Mutation_p.H254Y|MOV10L1_ENST00000540615.1_Missense_Mutation_p.H234Y	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	254					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		CGCCCCTGTTCATGAGGCCAC	0.507000													21	49					0	0	0.002780	0	0
EPB41L4B	54566	broad.mit.edu	37	9	111936874	111936874	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:111936874C>T	ENST00000374566.3	-	26	3180	c.2663G>A	c.(2662-2664)aGa>aAa	p.R888K		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	888						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CATCTTCTCTCTCTCCAGTTC	0.443000													15	18					0	0	0.004007	0	0
ZNF536	9745	broad.mit.edu	37	19	30935979	30935979	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:30935979G>A	ENST00000355537.3	+	2	1657	c.1510G>A	c.(1510-1512)Gag>Aag	p.E504K		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	504					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CAGCTGCATCGAGCGGCTGCA	0.652000													21	52					0	0	0.010504	0	0
FAM83G	644815	broad.mit.edu	37	17	18874806	18874806	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:18874806G>A	ENST00000388995.6	-	6	2561	c.2338C>T	c.(2338-2340)Ccg>Tcg	p.P780S	SLC5A10_ENST00000395647.2_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.P780S|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000417251.2_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.P780S			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	780										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						AAGGGACTCGGATGCTCCTCG	0.622000													48	126					0	0	0.003610	0	0
HERC1	8925	broad.mit.edu	37	15	63948490	63948490	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:63948490G>A	ENST00000443617.2	-	49	9754	c.9667C>T	c.(9667-9669)Cga>Tga	p.R3223*		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3223					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CACATTAATCGAACTAGCGTT	0.532000													10	32					0	0	0.006214	0	0
ERGIC1	57222	broad.mit.edu	37	5	172324009	172324009	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:172324009C>T	ENST00000393784.3	+	3	226	c.87C>T	c.(85-87)tcC>tcT	p.S29S	ERGIC1_ENST00000519860.1_3'UTR|ERGIC1_ENST00000523291.1_Silent_p.S29S	NM_001031711.2	NP_001026881.1	Q969X5	ERGI1_HUMAN	endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1	29					ER to Golgi vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)	9	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TTCCAGTCTCCATCTGCTGCT	0.517000													19	46					0	0	0.002299	0	0
TTN	7273	broad.mit.edu	37	2	179585312	179585312	+	Missense_Mutation	SNP	G	G	A	rs17452588	by1000genomes	TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:179585312G>A	ENST00000589042.1	-	80	23401	c.23177C>T	c.(23176-23178)tCg>tTg	p.S7726L	TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.S7409L|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S6482L|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7409	Ig-like 59.						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)			GGGAGTTCCCGAAATTTCACA	0.383000													6	17					0	0	0.001168	0	0
NLRP4	147945	broad.mit.edu	37	19	56369832	56369832	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:56369832G>A	ENST00000301295.6	+	3	1495	c.1073G>A	c.(1072-1074)gGa>gAa	p.G358E	NLRP4_ENST00000587891.1_Missense_Mutation_p.G283E|NLRP4_ENST00000346986.5_Missense_Mutation_p.G358E	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	358	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		ATGCAGAAAGGAAAAGACCTG	0.512000													17	43					0	0	0.004007	0	0
SERPINA13P	388007	broad.mit.edu	37	14	95108045	95108045	+	RNA	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:95108045C>T	ENST00000469935.1	+	0	650					NR_015340.1																						TGGGCAGGGTCCCCGGCTCCT	0.632000													26	73					0	0	0.004656	0	0
NEB	4703	broad.mit.edu	37	2	152566275	152566275	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:152566275C>T	ENST00000427231.2	-	12	1132	c.930G>A	c.(928-930)agG>agA	p.R310R	NEB_ENST00000604864.1_Silent_p.R310R|NEB_ENST00000603639.1_Silent_p.R310R|NEB_ENST00000172853.10_Silent_p.R310R|NEB_ENST00000397345.3_Silent_p.R310R|NEB_ENST00000409198.1_Silent_p.R310R	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	310					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CCTGGTATTTCCTCTGTAAGA	0.393000													4	12					0	0	0.009096	0	0
IGHV3-7	28452	broad.mit.edu	37	14	106518494	106518494	+	RNA	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:106518494C>T	ENST00000390598.2	-	0	335																											GATGGTGAATCGGCCCTTCAC	0.532000													8	263					0	0	0.001368	0	0
SNHG14	104472715	broad.mit.edu	37	15	25427583	25427583	+	RNA	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:25427583C>T	ENST00000424208.1	+	0	272				SNHG14_ENST00000365306.1_RNA	NR_003305.1																						ACTTAAAAATCATGCTCAATA	0.522000													74	200					0	0	0.003610	0	0
MAGEB16	139604	broad.mit.edu	37	X	35820547	35820547	+	Silent	SNP	C	C	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:35820547C>A	ENST00000399989.1	+	2	513	c.234C>A	c.(232-234)acC>acA	p.T78T	MAGEB16_ENST00000399985.1_Silent_p.T78T|MAGEB16_ENST00000399992.1_Silent_p.T110T|MAGEB16_ENST00000399988.1_Silent_p.T78T|MAGEB16_ENST00000399987.1_Silent_p.T78T	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	78										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						TCACAACCACCTCATCAAGTG	0.512000													6	22					1.06961e-07	1.08371e-07	0.003080	1	0
CCNB3	85417	broad.mit.edu	37	X	50094243	50094243	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:50094243C>T	ENST00000376042.1	+	12	4262	c.3964C>T	c.(3964-3966)Ccc>Tcc	p.P1322S	CCNB3_ENST00000276014.7_Missense_Mutation_p.P1322S|CCNB3_ENST00000348603.2_Missense_Mutation_p.P218S|CCNB3_ENST00000376038.1_Missense_Mutation_p.P218S			Q8WWL7	CCNB3_HUMAN	cyclin B3	1322					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					CTTCCAGGTTCCCTTCCTGGA	0.458000													36	93					0	0	0.004289	0	0
SLC12A5	57468	broad.mit.edu	37	20	44664487	44664487	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:44664487C>T	ENST00000454036.1	+	4	496	c.420C>T	c.(418-420)ttC>ttT	p.F140F	SLC12A5_ENST00000372315.1_Silent_p.F117F|SLC12A5_ENST00000243964.3_Silent_p.F117F|SLC12A5_ENST00000539566.1_Silent_p.F117F	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	140					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TCATCCTCTTCCTGCGGCTCA	0.612000													11	32					0	0	0.008291	0	0
SLC12A3	6559	broad.mit.edu	37	16	56928554	56928554	+	Splice_Site	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:56928554C>T	ENST00000438926.2	+	22	2689	c.2660_splice	c.e22+1	p.A887_splice	SLC12A3_ENST00000563236.1_Splice_Site_p.A878_splice|SLC12A3_ENST00000262502.5_Splice_Site_p.A877_splice|SLC12A3_ENST00000566786.1_Splice_Site_p.A886_splice	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	878					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	GAGAGAAAGGCGTAAGTGTGG	0.582000													7	20					0	0	0.001984	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45567061	45567061	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:45567061C>T	ENST00000588982.1	-	3	919	c.418G>A	c.(418-420)Gag>Aag	p.E140K	ZBTB7C_ENST00000590800.1_Missense_Mutation_p.E140K|ZBTB7C_ENST00000332053.2_Missense_Mutation_p.E140K|ZBTB7C_ENST00000535628.2_Missense_Mutation_p.E140K|ZBTB7C_ENST00000586438.1_Missense_Mutation_p.E140K			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	140	Asp-rich.|Glu-rich.					intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						tcatcgtcctccttgtcatcc	0.577000													12	22					0	0	0.001368	0	0
FLT1	2321	broad.mit.edu	37	13	28896933	28896933	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr13:28896933C>A	ENST00000282397.4	-	21	3198	c.2947G>T	c.(2947-2949)Gag>Tag	p.E983*	FLT1_ENST00000540678.1_Nonsense_Mutation_p.E201*	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	983	Protein kinase.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	CTACCCTCCTCTTCCTCAACA	0.408000													37	100					2.66277e-13	2.71834e-13	0.006999	1	0
SYNE1	23345	broad.mit.edu	37	6	152772238	152772238	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:152772238G>A	ENST00000367255.5	-	26	3731	c.3130C>T	c.(3130-3132)Cga>Tga	p.R1044*	SYNE1_ENST00000341594.5_Nonsense_Mutation_p.R1110*|SYNE1_ENST00000367248.3_Nonsense_Mutation_p.R1034*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.R1051*|SYNE1_ENST00000367253.4_Nonsense_Mutation_p.R1044*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.R1051*|SYNE1_ENST00000413186.2_Nonsense_Mutation_p.R1044*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.R1044*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1044					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTGGTCTCTCGATCCAGCTCA	0.463000										HNSCC(10;0.0054)			57	40					0	0	0.003610	0	0
ANK3	288	broad.mit.edu	37	10	61815475	61815475	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:61815475C>T	ENST00000280772.1	-	42	13197	c.13006G>A	c.(13006-13008)Gat>Aat	p.D4336N	ANK3_ENST00000503366.1_Missense_Mutation_p.D1827N|ANK3_ENST00000373827.2_Missense_Mutation_p.D1820N|ANK3_ENST00000355288.2_Missense_Mutation_p.D960N	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	4336					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GGCTTGCCATCTGCTGGAGAA	0.453000													65	172					0	0	0.003610	0	0
CES1P1	51716	broad.mit.edu	37	16	55806417	55806417	+	RNA	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:55806417G>A	ENST00000571348.1	+	0	719					NR_003276.2																						AGTGGGAGGAGAAAGTGTCTC	0.562000													9	26					0	0	0.008291	0	0
CSMD2	114784	broad.mit.edu	37	1	34182076	34182076	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:34182076G>A	ENST00000373381.4	-	20	3203	c.3027C>T	c.(3025-3027)ttC>ttT	p.F1009F		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	969	CUB 6.					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)				TTTCCAGGTGGAAGGTGTGGA	0.557000													6	24					0	0	0.001168	0	0
CDC20B	166979	broad.mit.edu	37	5	54423134	54423134	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:54423134G>A	ENST00000334206.5	-	8	1116	c.940C>T	c.(940-942)Cat>Tat	p.H314Y	CDC20B_ENST00000322374.6_Missense_Mutation_p.H314Y|CDC20B_ENST00000381375.2_Missense_Mutation_p.H314Y|CDC20B_ENST00000296733.1_Missense_Mutation_p.H314Y			Q86Y33	CD20B_HUMAN	cell division cycle 20B	314										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			ACTGACAAATGACCAAGCATA	0.398000													35	70					0	0	0.004878	0	0
TTN	7273	broad.mit.edu	37	2	179516677	179516677	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:179516677C>T	ENST00000589042.1	-	205	39537	c.39313G>A	c.(39313-39315)Gaa>Aaa	p.E13105K	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E11598K|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E10671K|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11458							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)			AGGGCAACTTCCTCAGGCTCC	0.468000													5	16					0	0	0.001984	0	0
TUBA4A	7277	broad.mit.edu	37	2	220116755	220116755	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:220116755A>C	ENST00000392088.2	-	2	711	c.156T>G	c.(154-156)ttT>ttG	p.F52L	TUBA4A_ENST00000498660.1_Intron|TUBA4A_ENST00000248437.4_Missense_Mutation_p.F67L	NM_001278552.1	NP_001265481.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	67					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCAGATCCACAAAAACTGCCC	0.532000													18	32					0	0	0.008871	0	0
HBD	3045	broad.mit.edu	37	11	5255304	5255304	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:5255304G>A	ENST00000380299.3	-	2	446	c.232C>T	c.(232-234)Cac>Tac	p.H78Y	HBD_ENST00000292901.3_Missense_Mutation_p.H78Y	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN	hemoglobin, delta	78					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTGTCCAGGTGAGCCAGGCCA	0.542000													28	34					0	0	0.004656	0	0
BMP15	9210	broad.mit.edu	37	X	50659177	50659177	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:50659177C>A	ENST00000252677.3	+	2	749	c.749C>A	c.(748-750)cCc>cAc	p.P250H		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	250					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity	p.P250F(1)		NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					AAATTTCTTCCCAGGGGCATG	0.463000													23	48					3.28513e-13	3.35052e-13	0.003954	1	0
KCNJ4	3761	broad.mit.edu	37	22	38823280	38823280	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr22:38823280G>A	ENST00000303592.3	-	2	1116	c.858C>T	c.(856-858)atC>atT	p.I286I	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	286					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					GGATGACCACGATCTCAAAGT	0.622000													15	30					0	0	0.002450	0	0
ZNF346	23567	broad.mit.edu	37	5	176471521	176471521	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:176471521C>T	ENST00000503039.1	+	5	583	c.579C>T	c.(577-579)tcC>tcT	p.S193S	ZNF346_ENST00000503425.1_Silent_p.S136S|ZNF346_ENST00000512315.1_Intron|ZNF346_ENST00000358149.3_Silent_p.S168S|ZNF346_ENST00000511834.1_Silent_p.S168S|ZNF346_ENST00000506693.1_Intron|ZNF346_ENST00000261948.4_Silent_p.S193S			Q9UL40	ZN346_HUMAN	zinc finger protein 346	168						cytoplasm|nucleolus	double-stranded RNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	14	all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	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)			AGCAGCAGTCCACTAAGGTGG	0.562000													21	82					0	0	0.002299	0	0
RPP30	10556	broad.mit.edu	37	10	92634652	92634652	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:92634652C>T	ENST00000413330.1	+	2	144	c.109C>T	c.(109-111)Cat>Tat	p.H37Y	RPP30_ENST00000371703.3_Missense_Mutation_p.H37Y	NM_001104546.1	NP_001098016.1	P78346	RPP30_HUMAN	ribonuclease P/MRP 30kDa subunit	37					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						TGCTATCAATCATATCGTTGA	0.289000													14	30					0	0	0.008871	0	0
LPPR2	64748	broad.mit.edu	37	19	11474442	11474442	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:11474442C>T	ENST00000251473.5	+	8	1270	c.894C>T	c.(892-894)ctC>ctT	p.L298L	DKFZP761J1410_ENST00000591608.1_Silent_p.L273L	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2																					GCCGAAGGCTCTCTCCCTGGG	0.632000													16	51					0	0	0.008871	0	0
DNAH1	25981	broad.mit.edu	37	3	52420831	52420831	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:52420831C>T	ENST00000420323.2	+	56	9226	c.8965C>T	c.(8965-8967)Ccg>Tcg	p.P2989S		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2989	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCTGCAGGACCCGGGCCACTT	0.602000													4	7					0	0	0.000602	0	0
PLXND1	23129	broad.mit.edu	37	3	129290360	129290360	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:129290360C>T	ENST00000393239.1	-	17	3506	c.3328G>A	c.(3328-3330)Gag>Aag	p.E1110K	PLXND1_ENST00000324093.4_Missense_Mutation_p.E1110K			Q9Y4D7	PLXD1_HUMAN	plexin D1	1110	IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						ACCGTGGGCTCCCGGCCAATG	0.647000													53	50					0	0	0.003610	0	0
TENM3	55714	broad.mit.edu	37	4	183674626	183674626	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:183674626T>A	ENST00000511685.1	+	21	4009	c.3886T>A	c.(3886-3888)Tta>Ata	p.L1296I	TENM3_ENST00000406950.2_Missense_Mutation_p.L1296I|TENM3_ENST00000502950.1_3'UTR					teneurin transmembrane protein 3																		TAAGAATGGATTAATCTACTT	0.333000													21	47					0	0	0.002299	0	0
PASD1	139135	broad.mit.edu	37	X	150832597	150832597	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:150832597C>T	ENST00000370357.4	+	11	1093	c.848C>T	c.(847-849)tCc>tTc	p.S283F		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	283						nucleus	signal transducer activity	p.S283F(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					TCAGCCTTATCCTTGCAAGAC	0.473000													19	58					0	0	0.007413	0	0
KIF21A	55605	broad.mit.edu	37	12	39703441	39703441	+	Silent	SNP	A	A	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:39703441A>G	ENST00000395670.3	-	32	4646	c.4227T>C	c.(4225-4227)tcT>tcC	p.S1409S	KIF21A_ENST00000544797.2_Silent_p.S1371S|KIF21A_ENST00000361418.5_Silent_p.S1408S|KIF21A_ENST00000541463.2_Silent_p.S1355S|KIF21A_ENST00000361961.3_Silent_p.S1395S			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1408					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CCTTAATATAAGATGTTGATA	0.388000													10	21					0	0	0.006214	0	0
GLUD2	2747	broad.mit.edu	37	X	120181778	120181778	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:120181778C>T	ENST00000328078.1	+	1	317	c.240C>T	c.(238-240)atC>atT	p.I80I		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	80					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding	p.I80I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	GCGCCAGCATCGTGGAGGACA	0.642000													32	64					0	0	0.003755	0	0
NCKAP5	344148	broad.mit.edu	37	2	133541515	133541515	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:133541515C>T	ENST00000409261.1	-	14	3242	c.2869G>A	c.(2869-2871)Gaa>Aaa	p.E957K	NCKAP5_ENST00000317721.6_Missense_Mutation_p.E957K|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	957							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						ACCCTGGTTTCGGACTTGGTG	0.567000													8	10					0	0	0.003080	0	0
SI	6476	broad.mit.edu	37	3	164714552	164714552	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:164714552C>T	ENST00000264382.3	-	39	4611	c.4549G>A	c.(4549-4551)Gaa>Aaa	p.E1517K		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1517	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	AGACTAAATTCCATCATACCT	0.194000										HNSCC(35;0.089)			2	0					0	0	0.004672	0	0
PAMR1	25891	broad.mit.edu	37	11	35456111	35456111	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:35456111C>T	ENST00000378880.2	-	10	2020	c.1575G>A	c.(1573-1575)ggG>ggA	p.G525G	PAMR1_ENST00000532848.1_Silent_p.G485G|PAMR1_ENST00000378878.3_Silent_p.G414G|PAMR1_ENST00000278360.3_Silent_p.G542G	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	525	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						GGTAGAATTTCCCCAAAACAA	0.532000													29	34					0	0	0.002836	0	0
OR6V1	346517	broad.mit.edu	37	7	142749510	142749510	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:142749510C>T	ENST00000418316.1	+	1	94	c.73C>T	c.(73-75)Ctg>Ttg	p.L25L		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					GCAGGCCCTTCTGTATGGCCC	0.512000													71	196					0	0	0.003610	0	0
ENTHD1	150350	broad.mit.edu	37	22	40140033	40140033	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr22:40140033C>T	ENST00000325157.6	-	7	1725	c.1475G>A	c.(1474-1476)gGa>gAa	p.G492E		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	492										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					TGGAAGAATTCCCAGTAGATT	0.408000													9	32					0	0	0.006214	0	0
TPO	7173	broad.mit.edu	37	2	1499897	1499897	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:1499897C>T	ENST00000345913.4	+	12	2234	c.2143C>T	c.(2143-2145)Ccc>Tcc	p.P715S	TPO_ENST00000497517.2_Intron|TPO_ENST00000329066.4_Missense_Mutation_p.P715S|TPO_ENST00000382201.3_Missense_Mutation_p.P658S|TPO_ENST00000337415.3_Missense_Mutation_p.P715S|TPO_ENST00000382198.1_Missense_Mutation_p.P542S|TPO_ENST00000349624.3_Missense_Mutation_p.P542S|TPO_ENST00000346956.3_Missense_Mutation_p.P715S	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	715					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CGGCAAATTCCCCGAAGACTT	0.562000													3	15					0	0	0.003080	0	0
GPR116	221395	broad.mit.edu	37	6	46874485	46874485	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:46874485C>T	ENST00000283296.7	-	2	303	c.15G>A	c.(13-15)agG>agA	p.R5R	GPR116_ENST00000265417.7_Silent_p.R5R|GPR116_ENST00000362015.4_Silent_p.R5R|GPR116_ENST00000456426.2_Silent_p.R5R|RP3-365O12.2_ENST00000451135.1_RNA	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	5					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			AAGTGGTTCTCCTTGGGGATT	0.358000													17	42					0	0	0.006122	0	0
PTPLAD2	401494	broad.mit.edu	37	9	21029305	21029305	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:21029305G>A	ENST00000495827.1	-	2	176	c.131C>T	c.(130-132)tCa>tTa	p.S44L	PTPLAD2_ENST00000513293.2_Missense_Mutation_p.S44L	NM_001010915.3	NP_001010915.2	Q5VWC8	HACD4_HUMAN	protein tyrosine phosphatase-like A domain containing 2	44					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	lyase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10				Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10)		TTTTCCAAATGAAAAGAATCT	0.308000													14	34					0	0	0.001855	0	0
KLK7	5650	broad.mit.edu	37	19	51483547	51483547	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:51483547G>A	ENST00000391807.1	-	4	519	c.418C>T	c.(418-420)Cct>Tct	p.P140S	KLK7_ENST00000597707.1_Missense_Mutation_p.P68S|CTB-147C22.9_ENST00000594512.1_RNA|KLK7_ENST00000595820.1_Missense_Mutation_p.P140S|KLK7_ENST00000336317.4_Missense_Mutation_p.P27S	NM_139277.2	NP_644806.1	P49862	KLK7_HUMAN	kallikrein-related peptidase 7	140	Peptidase S1.				epidermis development|proteolysis	extracellular region	serine-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)		GTGGTTCCAGGGGGTTCGCAG	0.612000													6	34					0	0	0.004482	0	0
CPLX4	339302	broad.mit.edu	37	18	56985621	56985621	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:56985621T>A	ENST00000299721.3	-	1	260	c.74A>T	c.(73-75)aAt>aTt	p.N25I	CPLX4_ENST00000587244.1_Missense_Mutation_p.N25I	NM_181654.3	NP_857637.1	Q7Z7G2	CPLX4_HUMAN	complexin 4	25					exocytosis|neurotransmitter transport	cell junction|synapse	syntaxin binding			autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	16		Colorectal(73;0.175)				TTCTTCTTTATTTTCTTCAGA	0.398000													12	56					0	0	0.001855	0	0
RCL1	10171	broad.mit.edu	37	9	4841214	4841214	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:4841214C>T	ENST00000448872.2	+	2	104	c.9C>T	c.(7-9)tcC>tcT	p.S3S	RCL1_ENST00000381728.1_Silent_p.S3S|RCL1_ENST00000381750.4_Intron|RCL1_ENST00000381730.1_Silent_p.S3S			Q9Y2P8	RCL1_HUMAN	RNA terminal phosphate cyclase-like 1	0					ribosome biogenesis|RNA processing	nucleolus	RNA-3'-phosphate cyclase activity			breast(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0244)		GAATGACATCCTTAACTCCAG	0.433000													16	44					0	0	0.004007	0	0
OLAH	55301	broad.mit.edu	37	10	15106425	15106425	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:15106425G>A	ENST00000378217.3	+	6	672	c.485G>A	c.(484-486)aGg>aAg	p.R162K	OLAH_ENST00000378228.3_Missense_Mutation_p.R109K	NM_018324.2	NP_060794.1	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase	109					fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity			endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						ATTGCTTTTAGGACTGCACTA	0.358000													11	41					0	0	0.000978	0	0
SEMA4C	54910	broad.mit.edu	37	2	97526700	97526700	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:97526700G>A	ENST00000305476.5	-	15	2297	c.2165C>T	c.(2164-2166)cCc>cTc	p.P722L		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	722	Pro-rich.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						TTCAGGACAGGGCCGGAAGGG	0.602000													14	29					0	0	0.001855	0	0
NSUN7	79730	broad.mit.edu	37	4	40778152	40778152	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:40778152G>A	ENST00000381782.2	+	7	1407	c.912G>A	c.(910-912)tgG>tgA	p.W304*	NSUN7_ENST00000316607.5_Nonsense_Mutation_p.W304*|NSUN7_ENST00000463952.1_3'UTR	NM_024677.4	NP_078953.3			NOP2/Sun domain family, member 7											NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						CAGGCTCATGGTACACAGTTT	0.368000													13	34					0	0	0.001368	0	0
ZDHHC7	55625	broad.mit.edu	37	16	85010020	85010020	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:85010020G>A	ENST00000313732.4	-	8	1208	c.856C>T	c.(856-858)Ccc>Tcc	p.P286S	ZDHHC7_ENST00000564466.1_Missense_Mutation_p.P323S	NM_017740.2	NP_060210.2	Q9NXF8	ZDHC7_HUMAN	zinc finger, DHHC-type containing 7	286						integral to membrane	acyltransferase activity|protein binding|zinc ion binding			large_intestine(6)|lung(4)	10						CCCACAAAGGGATTCATCCAG	0.582000													20	53					0	0	0.001882	0	0
SRRM2	23524	broad.mit.edu	37	16	2812251	2812251	+	Silent	SNP	T	T	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:2812251T>C	ENST00000301740.8	+	11	2271	c.1722T>C	c.(1720-1722)cgT>cgC	p.R574R		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	574	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GTAGATCTCGTTCTAGAACAC	0.597000													11	14					0	0	0.000978	0	0
DNAH7	56171	broad.mit.edu	37	2	196774856	196774856	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:196774856C>T	ENST00000312428.6	-	25	4099	c.3999G>A	c.(3997-3999)ggG>ggA	p.G1333G		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1333	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTTCAGTCTTCCCAGTGCCAG	0.418000													12	28					0	0	0.001855	0	0
MGAT4C	25834	broad.mit.edu	37	12	86374166	86374166	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:86374166C>T	ENST00000604798.1	-	8	1542	c.338G>A	c.(337-339)gGa>gAa	p.G113E	MGAT4C_ENST00000552808.2_Missense_Mutation_p.G113E|MGAT4C_ENST00000549405.2_Missense_Mutation_p.G113E|MGAT4C_ENST00000548651.1_Missense_Mutation_p.G113E|MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000332156.1_Missense_Mutation_p.G113E|MGAT4C_ENST00000393205.2_Missense_Mutation_p.G142E			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	113					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TAAATAGTTTCCTTTTTTTCG	0.328000													14	20					0	0	0.001855	0	0
ALX4	60529	broad.mit.edu	37	11	44331189	44331189	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:44331189C>T	ENST00000329255.3	-	1	527	c.424G>A	c.(424-426)Ggc>Agc	p.G142S		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	142					hair follicle development					central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						CCGCTGCTGCCTTCCTGGAGT	0.692000													9	6					0	0	0.008291	0	0
STEAP4	79689	broad.mit.edu	37	7	87908728	87908728	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:87908728C>T	ENST00000380079.4	-	5	1466	c.1365G>A	c.(1363-1365)agG>agA	p.R455R	STEAP4_ENST00000301959.5_Silent_p.R279R|AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000434733.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	455					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					GTTTTGAGTTCCTTTCCCAGC	0.378000													22	57					0	0	0.003954	0	0
HHIPL2	79802	broad.mit.edu	37	1	222713617	222713617	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:222713617G>A	ENST00000343410.6	-	4	1243	c.1185C>T	c.(1183-1185)taC>taT	p.Y395Y		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	395					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		AGGGGACTCGGTACCGCTTGC	0.537000													458	284					0	0	0.003610	0	0
XPOT	11260	broad.mit.edu	37	12	64825499	64825499	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:64825499C>T	ENST00000332707.5	+	18	2687	c.2158C>T	c.(2158-2160)Ctt>Ttt	p.L720F		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	720	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		GGAAGAAGTTCTTCCGTTCAT	0.418000													7	39					0	0	0.001984	0	0
ZNF99	7652	broad.mit.edu	37	19	22939459	22939459	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:22939459C>T	ENST00000397104.3	-	7	2711	c.2712G>A	c.(2710-2712)atG>atA	p.M904I						zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TCTTATGTTTCATAAGGGTCG	0.353000													18	29					0	0	0.006122	0	0
CACNA1H	8912	broad.mit.edu	37	16	1258083	1258083	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:1258083C>T	ENST00000348261.5	+	16	3473	c.3225C>T	c.(3223-3225)ccC>ccT	p.P1075P	CACNA1H_ENST00000358590.4_Silent_p.P1075P|CACNA1H_ENST00000565831.1_Silent_p.P1075P	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1075					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	TGTCCCCTCCCCTCATCATGT	0.657000													6	5					0	0	0.001168	0	0
MDGA2	161357	broad.mit.edu	37	14	47426821	47426821	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:47426821G>A	ENST00000426342.1	-	9	1697	c.951C>T	c.(949-951)ttC>ttT	p.F317F	MDGA2_ENST00000399232.2_Silent_p.F615F|MDGA2_ENST00000439988.2_Silent_p.F546F|MDGA2_ENST00000357362.3_Silent_p.F317F	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	546	Ig-like 3.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GGATTTCCAAGAATGCTGGTT	0.453000													15	49					0	0	0.006122	0	0
CYP4F12	66002	broad.mit.edu	37	19	15807289	15807289	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:15807289C>T	ENST00000550308.1	+	12	1744	c.1364C>T	c.(1363-1365)cCt>cTt	p.P455L	CYP4F12_ENST00000324632.9_Missense_Mutation_p.P455L	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					GGGAGGTCACCTCTGGCTTTT	0.557000													48	103					0	0	0.003610	0	0
C6	729	broad.mit.edu	37	5	41176678	41176678	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:41176678C>T	ENST00000263413.3	-	8	1331	c.1067G>A	c.(1066-1068)cGa>cAa	p.R356Q	C6_ENST00000337836.5_Missense_Mutation_p.R356Q|C6_ENST00000475349.1_5'UTR	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	356	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				ATCGAATATTCGGCTGTACAA	0.423000													24	21					0	0	0.003954	0	0
ADH1C	126	broad.mit.edu	37	4	100261800	100261800	+	RNA	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:100261800G>A	ENST00000515683.1	-	0	1247					NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	GAGGTTCTGGGAATCAGGAGG	0.448000													68	139					0	0	0.003610	0	0
MYH8	4626	broad.mit.edu	37	17	10300232	10300232	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:10300232A>G	ENST00000403437.2	-	31	4344	c.4250T>C	c.(4249-4251)cTt>cCt	p.L1417P	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1417					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CGTCTTCTCAAGGGAAGCACA	0.498000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				23	52					0	0	0.003330	0	0
SOGA1	140710	broad.mit.edu	37	20	35443545	35443545	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:35443545A>G	ENST00000237536.4	-	5	2641	c.2300T>C	c.(2299-2301)cTt>cCt	p.L767P	SOGA1_ENST00000456801.2_Missense_Mutation_p.L370P|SOGA1_ENST00000357779.3_Missense_Mutation_p.L529P|SOGA1_ENST00000279034.5_Missense_Mutation_p.L529P	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN	suppressor of glucose, autophagy associated 1	529										endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						GTCTGAGCCAAGGTCTTTTGC	0.488000													49	127					0	0	0.003610	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173782587	173782587	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:173782587G>A	ENST00000264111.6	+	5	689	c.502G>A	c.(502-504)Ggc>Agc	p.G168S	RAPGEF4_ENST00000538974.1_Missense_Mutation_p.G15S|RAPGEF4_ENST00000473043.1_3'UTR|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.G168S|RAPGEF4_ENST00000397081.3_Missense_Mutation_p.G168S|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.G15S|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.G24S|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.G15S			Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	168					blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			TATGGAAACGGGCTCTAACAA	0.363000													25	62					0	0	0.008361	0	0
RELN	5649	broad.mit.edu	37	7	103207118	103207118	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:103207118G>A	ENST00000428762.1	-	32	4836	c.4677C>T	c.(4675-4677)atC>atT	p.I1559I	RELN_ENST00000343529.5_Silent_p.I1559I|RELN_ENST00000424685.2_Silent_p.I1559I	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1559					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CAATGGAAATGATCTGTGGTT	0.473000													13	41					0	0	0.002450	0	0
NLGN4X	57502	broad.mit.edu	37	X	5811469	5811469	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:5811469G>A	ENST00000381095.3	-	6	2467	c.1840C>T	c.(1840-1842)Cct>Tct	p.P614S	NLGN4X_ENST00000381092.1_Missense_Mutation_p.P614S|NLGN4X_ENST00000538097.1_Missense_Mutation_p.P614S|NLGN4X_ENST00000275857.6_Missense_Mutation_p.P614S|NLGN4X_ENST00000381093.2_Missense_Mutation_p.P634S	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	614					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TCTGGTGGAGGAACCTTTGTG	0.502000													39	97					0	0	0.002852	0	0
NXPE4	54827	broad.mit.edu	37	11	114453255	114453255	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:114453255C>T	ENST00000375478.3	-	3	765	c.585G>A	c.(583-585)agG>agA	p.R195R	NXPE4_ENST00000424261.2_Intron	NM_001077639.1	NP_001071107.1			neurexophilin and PC-esterase domain family, member 4																		AGCCTTGGTTCCTTGCACTCC	0.532000													9	32					0	0	0.006214	0	0
KIAA2022	340533	broad.mit.edu	37	X	73961993	73961993	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:73961993G>A	ENST00000373468.1	-	3	3050	c.2399C>T	c.(2398-2400)tCt>tTt	p.S800F	KIAA2022_ENST00000055682.5_Missense_Mutation_p.S800F			Q5QGS0	K2022_HUMAN	KIAA2022	800					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						AACATTAGCAGATGATAAAGG	0.403000													40	117					0	0	0.007835	0	0
PRDM9	56979	broad.mit.edu	37	5	23522948	23522948	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:23522948G>A	ENST00000296682.3	+	8	1018	c.836G>A	c.(835-837)cGa>cAa	p.R279Q		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	279	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			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						TATGAGGGCCGAATTACAGAA	0.547000										HNSCC(3;0.000094)			14	55					0	0	0.002450	0	0
CNOT6	57472	broad.mit.edu	37	5	179996161	179996161	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:179996161C>T	ENST00000393356.1	+	12	1503	c.1079C>T	c.(1078-1080)gCc>gTc	p.A360V	CNOT6_ENST00000261951.4_Missense_Mutation_p.A360V			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	360					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	exonuclease activity|metal ion binding|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		GTGGCTAACGCCCACATGCAT	0.413000													13	60					0	0	0.001368	0	0
TECRL	253017	broad.mit.edu	37	4	65175598	65175598	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:65175598G>A	ENST00000381210.3	-	6	713	c.603C>T	c.(601-603)acC>acT	p.T201T	TECRL_ENST00000513125.1_5'UTR|TECRL_ENST00000507440.1_Silent_p.T201T	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	201					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						GAACAAATAAGGTTTCCAAAA	0.323000													18	53					0	0	0.001882	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159819110	159819110	+	RNA	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:159819110C>T	ENST00000497452.1	-	0	517																											TTTTCATTTCCTGTGACTGAT	0.373000													9	36					0	0	0.008291	0	0
DSN1	79980	broad.mit.edu	37	20	35396435	35396435	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:35396435C>T	ENST00000426836.1	-	4	738	c.366G>A	c.(364-366)cgG>cgA	p.R122R	DSN1_ENST00000373740.3_Silent_p.R50R|DSN1_ENST00000373750.4_Silent_p.R122R|DSN1_ENST00000373734.4_Silent_p.R15R|DSN1_ENST00000448110.1_Silent_p.R106R|DSN1_ENST00000373745.3_Silent_p.R122R|DSN1_ENST00000473615.1_5'UTR	NM_001145316.1	NP_001138788.1	Q9H410	DSN1_HUMAN	DSN1, MIS12 kinetochore complex component	122					cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16		Myeloproliferative disorder(115;0.00874)				CACTGATAGACCGGCTGAGCT	0.393000													26	43					0	0	0.006320	0	0
DSG4	147409	broad.mit.edu	37	18	28968435	28968435	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:28968435G>A	ENST00000359747.4	+	4	351	c.322G>A	c.(322-324)Gaa>Aaa	p.E108K	RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.E108K|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	108	Cadherin 1.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TCGCACTGGGGAAATTAACAT	0.398000													14	30					0	0	0.003163	0	0
HRNR	388697	broad.mit.edu	37	1	152185640	152185640	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:152185640C>T	ENST00000368801.2	-	3	8540	c.8465G>A	c.(8464-8466)gGa>gAa	p.G2822E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2822					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCAGAACTTCCCCCATCATG	0.438000													106	78					0	0	0.003610	0	0
GUCY1B3	2983	broad.mit.edu	37	4	156716567	156716567	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:156716567G>A	ENST00000264424.8	+	7	883	c.801G>A	c.(799-801)ggG>ggA	p.G267G	GUCY1B3_ENST00000513437.1_Silent_p.G199G|GUCY1B3_ENST00000507146.1_Silent_p.G199G|GUCY1B3_ENST00000505154.1_Silent_p.G199G|GUCY1B3_ENST00000502959.1_Silent_p.G289G|GUCY1B3_ENST00000505764.1_Silent_p.G247G|GUCY1B3_ENST00000503520.1_Silent_p.G267G	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	267					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		GTTTCCATGGGATCCTTTCTC	0.363000													20	43					0	0	0.001882	0	0
ZEB1	6935	broad.mit.edu	37	10	31810202	31810202	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:31810202C>T	ENST00000446923.2	+	7	2282	c.1891C>T	c.(1891-1893)Cct>Tct	p.P631S	ZEB1_ENST00000560721.2_Missense_Mutation_p.P627S|ZEB1_ENST00000320985.10_Missense_Mutation_p.P647S|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000361642.5_Missense_Mutation_p.P648S|ZEB1_ENST00000542815.3_Missense_Mutation_p.P580S	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	647					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				ACCATCTTCTCCTGAACCAGG	0.418000													13	17					0	0	0.001855	0	0
DNAH7	56171	broad.mit.edu	37	2	196825573	196825573	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:196825573G>A	ENST00000312428.6	-	18	2402	c.2302C>T	c.(2302-2304)Cgt>Tgt	p.R768C		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	768	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCATAAAGACGAAGATAAGGG	0.403000													33	61					0	0	0.002836	0	0
TSC22D2	9819	broad.mit.edu	37	3	150127379	150127379	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:150127379C>T	ENST00000361875.2	+	1	1258	c.242C>T	c.(241-243)cCc>cTc	p.P81L	TSC22D2_ENST00000361136.2_Missense_Mutation_p.P81L	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2	81							sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GCGGAGACTCCCGGGACCGTC	0.632000													9	31					0	0	0.006214	0	0
PCLO	27445	broad.mit.edu	37	7	82544827	82544827	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:82544827G>A	ENST00000423517.2	-	7	12812	c.12475C>T	c.(12475-12477)Cca>Tca	p.P4159S	PCLO_ENST00000437081.1_Missense_Mutation_p.P879S|PCLO_ENST00000333891.8_Missense_Mutation_p.P4159S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4090					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCAGATTTTGGAAAATGTCTG	0.388000													33	75					0	0	0.005524	0	0
DMBT1	1755	broad.mit.edu	37	10	124358450	124358450	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:124358450C>T	ENST00000368909.3	+	26	3223	c.3117C>T	c.(3115-3117)gcC>gcT	p.A1039A	DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368955.3_Silent_p.A1029A|DMBT1_ENST00000330163.4_Silent_p.A540A|DMBT1_ENST00000368956.2_Silent_p.A540A|DMBT1_ENST00000338354.3_Silent_p.A1039A|DMBT1_ENST00000344338.3_Silent_p.A1029A	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1039	SRCR 8.				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)				GTGGCTGGGCCATGTCAGCCC	0.602000													168	113					0	0	0.003610	0	0
DNAH11	8701	broad.mit.edu	37	7	21698497	21698497	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:21698497G>A	ENST00000328843.6	+	30	5222	c.5191G>A	c.(5191-5193)Gag>Aag	p.E1731K	DNAH11_ENST00000409508.3_Missense_Mutation_p.E1726K			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1731	Stem (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						AGTGGCCTACGAGGAAAAACC	0.448000									Kartagener syndrome				4	13					0	0	0.009096	0	0
ZFHX4	79776	broad.mit.edu	37	8	77765725	77765725	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:77765725G>A	ENST00000521891.2	+	10	7016	c.6568G>A	c.(6568-6570)Gat>Aat	p.D2190N	ZFHX4_ENST00000518282.1_Missense_Mutation_p.D2164N|ZFHX4_ENST00000455469.2_Missense_Mutation_p.D2145N|ZFHX4_ENST00000050961.6_Missense_Mutation_p.D2145N	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2145						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)			GAGAAATAAAGATTCACCATA	0.383000										HNSCC(33;0.089)			30	97					0	0	0.003271	0	0
CACNA1H	8912	broad.mit.edu	37	16	1265266	1265266	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:1265266C>T	ENST00000348261.5	+	29	5312	c.5064C>T	c.(5062-5064)atC>atT	p.I1688I	CACNA1H_ENST00000358590.4_Silent_p.I1682I|CACNA1H_ENST00000565831.1_Silent_p.I1682I	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1688					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	ACCTGGCCATCGTGCTGCTGT	0.647000													6	10					0	0	0.004482	0	0
USP33	23032	broad.mit.edu	37	1	78191348	78191348	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:78191348G>A	ENST00000370793.1	-	12	1674	c.1328C>T	c.(1327-1329)tCa>tTa	p.S443L	USP33_ENST00000370792.3_Missense_Mutation_p.S443L|USP33_ENST00000357428.1_Missense_Mutation_p.S443L|USP33_ENST00000370794.3_Missense_Mutation_p.S412L	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	443					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						CAAATTGCCTGATTTAGGAGG	0.408000													16	27					0	0	0.003163	0	0
DSG3	1830	broad.mit.edu	37	18	29055931	29055931	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:29055931G>A	ENST00000257189.4	+	16	2791	c.2708G>A	c.(2707-2709)gGa>gAa	p.G903E		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	903					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ACTTTGTCAGGAAGTCAAGGA	0.502000													23	61					0	0	0.002299	0	0
KIAA1804	84451	broad.mit.edu	37	1	233518443	233518443	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:233518443G>A	ENST00000366624.3	+	10	3358	c.3097G>A	c.(3097-3099)Gaa>Aaa	p.E1033K	MLK4_ENST00000366622.1_Missense_Mutation_p.E479K	NM_032435.2	NP_115811.2																					ACTGGAGAAAGAATTCCTGTC	0.423000													26	19					0	0	0.003330	0	0
MEP1A	4224	broad.mit.edu	37	6	46803009	46803009	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:46803009G>A	ENST00000230588.4	+	13	1816	c.1807G>A	c.(1807-1809)Gaa>Aaa	p.E603K		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	603					digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			CAGCCAGACTGAAGTTCCCAC	0.488000													3	10					0	0	0.004672	0	0
TCAIM	285343	broad.mit.edu	37	3	44449140	44449140	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:44449140C>T	ENST00000342649.4	+	11	1884	c.1457C>T	c.(1456-1458)cCt>cTt	p.P486L	TCAIM_ENST00000417237.1_Missense_Mutation_p.P486L	NM_173826.3	NP_776187.2			T cell activation inhibitor, mitochondrial																		CTTTGTATTCCTTGGAATTGG	0.328000													20	41					0	0	0.001882	0	0
DCTN4	51164	broad.mit.edu	37	5	150095183	150095183	+	Silent	SNP	A	A	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:150095183A>G	ENST00000447998.2	-	12	1228	c.1113T>C	c.(1111-1113)gaT>gaC	p.D371D	DCTN4_ENST00000446090.2_Silent_p.D378D|DCTN4_ENST00000424236.1_Silent_p.D314D	NM_016221.3	NP_057305.1	Q9UJW0	DCTN4_HUMAN	dynactin 4 (p62)	371						centrosome|nucleus	protein N-terminus binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	10		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGCTGCTGCATCCTTGCCAG	0.498000													20	45					0	0	0.002780	0	0
DNAJA3	9093	broad.mit.edu	37	16	4504910	4504910	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:4504910T>G	ENST00000262375.6	+	11	1515	c.1438T>G	c.(1438-1440)Tca>Gca	p.S480A	DNAJA3_ENST00000431375.2_Intron|DNAJA3_ENST00000355296.4_Intron	NM_005147.5	NP_005138.3	Q96EY1	DNJA3_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 3	480					activation of caspase activity|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of cell proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|neuromuscular junction development|positive regulation of apoptosis|positive regulation of protein ubiquitination|protein folding|protein stabilization|response to heat|response to interferon-gamma	cytosol|mitochondrial matrix|mitochondrial nucleoid|nucleus	ATP binding|heat shock protein binding|interferon-gamma receptor binding|metal ion binding|NF-kappaB binding|protein kinase binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2)	15						AATGTTTACCTCATGATATCC	0.478000													7	20					0	0	0.004482	0	0
TIMM50	92609	broad.mit.edu	37	19	39977088	39977088	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:39977088C>T	ENST00000314349.4	+	8	1091	c.958C>T	c.(958-960)Cgc>Tgc	p.R320C	TIMM50_ENST00000607714.1_Missense_Mutation_p.R217C|TIMM50_ENST00000544017.1_Missense_Mutation_p.R104C|TIMM50_ENST00000599794.1_Intron	NM_001001563.1	NP_001001563.1	Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)	217					mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CATCTCCTACCGCCTATTCCG	0.582000													25	71					0	0	0.007291	0	0
FER1L6	654463	broad.mit.edu	37	8	125083777	125083777	+	Missense_Mutation	SNP	G	G	A	rs139878625		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:125083777G>A	ENST00000522917.1	+	31	4203	c.3997G>A	c.(3997-3999)Gat>Aat	p.D1333N	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.D1333N	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1333						integral to membrane		p.D1333N(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AAGCCCCCAGGATTCTAGCTC	0.522000													19	42					0	0	0.008871	0	0
TMEM100	55273	broad.mit.edu	37	17	53798372	53798372	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:53798372C>T	ENST00000575734.1	-	4	868	c.60G>A	c.(58-60)acG>acA	p.T20T	TMEM100_ENST00000424486.2_Silent_p.T20T	NM_001099640.1	NP_001093110.1	Q9NV29	TM100_HUMAN	transmembrane protein 100	20						integral to membrane				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	11						TCTTCTCCATCGTCGCTGCCA	0.522000													57	103					0	0	0.003610	0	0
POU5F2	134187	broad.mit.edu	37	5	93076823	93076823	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:93076823G>A	ENST00000510627.4	-	1	520	c.447C>T	c.(445-447)atC>atT	p.I149I	POU5F2_ENST00000606183.1_5'UTR|FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000395965.3_Intron|FAM172A_ENST00000505869.1_Intron	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	149	POU-specific.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		CTCCCACAGCGATCCCCACAT	0.582000													7	32					0	0	0.003080	0	0
ZNF560	147741	broad.mit.edu	37	19	9580312	9580312	+	Missense_Mutation	SNP	G	G	A	rs149939433	by1000genomes	TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:9580312G>A	ENST00000301480.4	-	8	736	c.523C>T	c.(523-525)Ctc>Ttc	p.L175F		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	175	KRAB 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TCACCTTGGAGAACTCTTGGC	0.448000													14	45					0	0	0.002450	0	0
KRT80	144501	broad.mit.edu	37	12	52567548	52567548	+	Splice_Site	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:52567548C>T	ENST00000313234.5	-	5	764	c.666_splice	c.e5-1	p.E223_splice	KRT80_ENST00000394815.2_Splice_Site_p.E223_splice	NM_001081492.1	NP_001074961.1	Q6KB66	K2C80_HUMAN	keratin 80	223	Coil 1B.|Rod.					keratin filament	structural molecule activity			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		TCCTTCAGCTCCTGACCGGGC	0.647000													13	38					0	0	0.001855	0	0
SPERT	220082	broad.mit.edu	37	13	46287908	46287908	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr13:46287908C>T	ENST00000378966.3	+	2	1056	c.640C>T	c.(640-642)Ctc>Ttc	p.L214F	SPERT_ENST00000310521.1_Missense_Mutation_p.L250F			Q8NA61	SPERT_HUMAN	spermatid associated	250						cytoplasmic membrane-bounded vesicle				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		CCTGCAGCTCCTCCGGGAGGA	0.672000													5	16					0	0	0.000602	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147546	26147546	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:26147546G>A	ENST00000331351.5	+	2	1740	c.1348G>A	c.(1348-1350)Gaa>Aaa	p.E450K		NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	450					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		TTTTCAGTGGGAACAGGAAGA	0.463000													5	16					0	0	0.001168	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325428	150325428	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:150325428C>T	ENST00000328902.5	-	3	474	c.258G>A	c.(256-258)tgG>tgA	p.W86*	GIMAP6_ENST00000493969.1_Intron	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	86							GTP binding	p.W86C(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTTCCCAGCCCACTCTCGGC	0.582000													43	188					0	0	0.008740	0	0
CASKIN1	57524	broad.mit.edu	37	16	2229903	2229903	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:2229903C>T	ENST00000343516.6	-	18	3558	c.3466G>A	c.(3466-3468)Gag>Aag	p.E1156K		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	1156	Pro-rich.				signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GCCTCCCGCTCCTTGGCCTTG	0.667000													4	14					0	0	0.000602	0	0
OR10G2	26534	broad.mit.edu	37	14	22102994	22102994	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:22102994C>T	ENST00000542433.1	-	1	102	c.5G>A	c.(4-6)gGa>gAa	p.G2E		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		TTTGGTCTTTCCCATGTCTTT	0.438000													24	74					0	0	0.003954	0	0
ABLIM2	84448	broad.mit.edu	37	4	7985003	7985003	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:7985003C>T	ENST00000318888.4	-	19	1786	c.915G>A	c.(913-915)cgG>cgA	p.R305R	ABLIM2_ENST00000447017.2_Silent_p.R604R|ABLIM2_ENST00000341937.5_Silent_p.R570R|ABLIM2_ENST00000546334.1_Silent_p.R490R|ABLIM2_ENST00000407564.3_Silent_p.R480R|ABLIM2_ENST00000361737.5_Silent_p.R490R|ABLIM2_ENST00000296372.8_Silent_p.R532R|ABLIM2_ENST00000545242.1_Silent_p.R530R|ABLIM2_ENST00000514025.1_Silent_p.R305R|ABLIM2_ENST00000361581.5_Silent_p.R531R|ABLIM2_ENST00000505872.1_Silent_p.R518R			Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	570					axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						CCAGTCTCGTCCGGTCCACGT	0.597000													6	12					0	0	0.001168	0	0
NUB1	51667	broad.mit.edu	37	7	151073817	151073817	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:151073817G>A	ENST00000568733.1	+	14	1727	c.1661G>A	c.(1660-1662)gGa>gAa	p.G554E	NUB1_ENST00000413040.2_Missense_Mutation_p.G540E|WDR86_ENST00000463000.1_5'UTR|NUB1_ENST00000566856.1_Missense_Mutation_p.G516E|NUB1_ENST00000355851.4_Missense_Mutation_p.G530E			Q9Y5A7	NUB1_HUMAN	negative regulator of ubiquitin-like proteins 1	530	NEDD8-binding 2.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding			endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		GCTCACAACGGAGGAAGCCTG	0.607000													4	11					0	0	0.000602	0	0
TPM1	7168	broad.mit.edu	37	15	63349295	63349295	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:63349295A>T	ENST00000357980.4	+	4	557	c.478A>T	c.(478-480)Aag>Tag	p.K160*	TPM1_ENST00000403994.3_Nonsense_Mutation_p.K118*|TPM1_ENST00000559556.1_Nonsense_Mutation_p.K118*|TPM1_ENST00000317516.7_Nonsense_Mutation_p.K82*|TPM1_ENST00000559397.1_Nonsense_Mutation_p.K118*|TPM1_ENST00000560959.1_Nonsense_Mutation_p.K82*|TPM1_ENST00000560445.1_Intron|TPM1_ENST00000559281.1_Nonsense_Mutation_p.K82*|TPM1_ENST00000404484.4_Nonsense_Mutation_p.K82*|TPM1_ENST00000334895.5_Nonsense_Mutation_p.K82*|TPM1_ENST00000288398.6_Nonsense_Mutation_p.K118*|TPM1_ENST00000267996.7_Nonsense_Mutation_p.K118*|TPM1_ENST00000358278.3_Nonsense_Mutation_p.K118*			P09493	TPM1_HUMAN	tropomyosin 1 (alpha)	118					cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing	bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber	actin binding|structural constituent of cytoskeleton|structural constituent of muscle			endometrium(1)|large_intestine(1)|lung(2)	4						GGAAGCTGAGAAGGCAGCAGA	0.537000													29	65					0	0	0.008361	0	0
CORIN	10699	broad.mit.edu	37	4	47663828	47663828	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:47663828C>T	ENST00000273857.4	-	12	1634	c.1635G>A	c.(1633-1635)ggG>ggA	p.G545G	CORIN_ENST00000505909.1_Silent_p.G508G|CORIN_ENST00000502252.1_Silent_p.G478G|CORIN_ENST00000508498.1_Silent_p.G406G|CORIN_ENST00000504584.1_Silent_p.G508G	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	545	FZ 2.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						GGCCCACAATCCCAAGAACAG	0.433000													16	27					0	0	0.004007	0	0
SYT10	341359	broad.mit.edu	37	12	33532878	33532878	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:33532878G>A	ENST00000228567.3	-	6	1685	c.1389C>T	c.(1387-1389)gtC>gtT	p.V463V	SYT10_ENST00000535526.1_Silent_p.V282V	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	463	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					ACACTCCTATGACCTCATTGT	0.423000													22	58					0	0	0.001882	0	0
OR5P2	120065	broad.mit.edu	37	11	7818017	7818017	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:7818017G>A	ENST00000329434.2	-	1	503	c.473C>T	c.(472-474)tCc>tTc	p.S158F	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AAAATAGAAGGAAGTAGTATA	0.393000													24	26					0	0	0.005443	0	0
RBP3	5949	broad.mit.edu	37	10	48388693	48388693	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:48388693G>A	ENST00000224600.4	-	1	2298	c.2185C>T	c.(2185-2187)Ctt>Ttt	p.L729F		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	729	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	p.L729I(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GCCTCAATAAGGTAGGTGAGC	0.632000													18	44					0	0	0.007413	0	0
UNC5D	137970	broad.mit.edu	37	8	35425615	35425615	+	Splice_Site	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:35425615G>A	ENST00000287272.2	+	3	342		c.e3-1		UNC5D_ENST00000404895.2_Splice_Site|UNC5D_ENST00000416672.1_Splice_Site|UNC5D_ENST00000453357.2_Splice_Site|UNC5D_ENST00000420357.1_Splice_Site			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)						apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CCCACCATCAGGTTTGAAGGT	0.453000													60	154					0	0	0.003610	0	0
TM7SF3	51768	broad.mit.edu	37	12	27132786	27132786	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:27132786T>G	ENST00000343028.4	-	9	1345	c.1120A>C	c.(1120-1122)Atc>Ctc	p.I374L		NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	374						integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					AGCATGCAGATCGAGAGGATT	0.483000													10	19					0	0	0.006214	0	0
PRKCI	5584	broad.mit.edu	37	3	169988339	169988339	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:169988339C>T	ENST00000295797.4	+	6	886	c.581C>T	c.(580-582)tCt>tTt	p.S194F		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	194	Regulatory domain.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			GGGCGGCATTCTTTGCCACAG	0.398000													10	43					0	0	0.008291	0	0
PTCH1	5727	broad.mit.edu	37	9	98232142	98232142	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:98232142T>A	ENST00000430669.2	-	13	2187	c.1602A>T	c.(1600-1602)ttA>ttT	p.L534F	PTCH1_ENST00000331920.6_Missense_Mutation_p.L600F|PTCH1_ENST00000421141.1_Missense_Mutation_p.L449F|PTCH1_ENST00000375274.2_Missense_Mutation_p.L599F|PTCH1_ENST00000437951.1_Missense_Mutation_p.L534F|PTCH1_ENST00000418258.1_Missense_Mutation_p.L449F|PTCH1_ENST00000429896.2_Missense_Mutation_p.L449F			Q13635	PTC1_HUMAN	patched 1	600	SSD.				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CGCGTCGATATAAATCCATGC	0.443000													36	75					0	0	0.003755	0	0
CYP4X1	260293	broad.mit.edu	37	1	47504382	47504382	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:47504382G>A	ENST00000371901.3	+	7	1076	c.826G>A	c.(826-828)Gat>Aat	p.D276N	CYP4X1_ENST00000538609.1_Missense_Mutation_p.D275N|CYP4X1_ENST00000466294.1_3'UTR	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	276						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding	p.D276N(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						GGTAAAGCAGGATAACACTCC	0.393000													17	35					0	0	0.006122	0	0
PSAP	5660	broad.mit.edu	37	10	73594158	73594158	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:73594158G>A	ENST00000394936.3	-	2	292	c.145C>T	c.(145-147)Ctg>Ttg	p.L49L	PSAP_ENST00000394934.1_Silent_p.L49L			P07602	SAP_HUMAN	prosaposin	49	Saposin A-type 1.				glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						ACGGTCTGCAGGCAGTGCTTC	0.617000													10	18					0	0	0.006214	0	0
CWH43	80157	broad.mit.edu	37	4	49032892	49032892	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:49032892G>A	ENST00000226432.4	+	11	1606	c.1423G>A	c.(1423-1425)Ggg>Agg	p.G475R	CWH43_ENST00000513409.1_Missense_Mutation_p.G448R	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	475					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GCCCTATATGGGGAACAATGA	0.418000													32	86					0	0	0.002096	0	0
NEK11	79858	broad.mit.edu	37	3	130873927	130873927	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:130873927G>A	ENST00000383366.4	+	10	1217	c.924G>A	c.(922-924)ttG>ttA	p.L308L	NEK11_ENST00000508196.1_Silent_p.L308L|NEK11_ENST00000507910.1_Silent_p.L308L|NEK11_ENST00000429253.2_Silent_p.L308L|NEK11_ENST00000511262.1_Silent_p.L308L|NEK11_ENST00000510688.1_Silent_p.L308L|NEK11_ENST00000510769.1_Intron|NEK11_ENST00000356918.4_Silent_p.L308L|NEK11_ENST00000412440.2_Silent_p.L160L	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11	308					cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						ACAAAAATTTGGATTGTCAGA	0.333000													13	26					0	0	0.001855	0	0
LYST	1130	broad.mit.edu	37	1	235972340	235972340	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:235972340A>G	ENST00000389794.3	-	5	1952	c.1778T>C	c.(1777-1779)aTt>aCt	p.I593T	LYST_ENST00000389793.2_Missense_Mutation_p.I593T|LYST_ENST00000536965.1_Missense_Mutation_p.I593T			Q99698	LYST_HUMAN	lysosomal trafficking regulator	593					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)			GAGCAAAGGAATGATTACAGA	0.388000													25	78					0	0	0.004656	0	0
WDR35	57539	broad.mit.edu	37	2	20114007	20114007	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:20114007G>A	ENST00000345530.3	-	27	3301	c.3186C>T	c.(3184-3186)atC>atT	p.I1062I	WDR35_ENST00000281405.4_Silent_p.I1051I|WDR35_ENST00000416055.2_Intron	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	1062										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCACAGGAGGGATGATGTCTT	0.388000													18	38					0	0	0.007413	0	0
IGSF9B	22997	broad.mit.edu	37	11	133816061	133816061	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:133816061C>T	ENST00000321016.8	-	2	387	c.157G>A	c.(157-159)Gga>Aga	p.G53R	IGSF9B_ENST00000533871.2_Missense_Mutation_p.G53R			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	53	Ig-like 1.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GGGGGCTGTCCCGTCACTGGG	0.622000													6	7					0	0	0.003080	0	0
CDC5L	988	broad.mit.edu	37	6	44392179	44392179	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:44392179C>T	ENST00000371477.3	+	11	1727	c.1428C>T	c.(1426-1428)ctC>ctT	p.L476L		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	476	Interaction with PPP1R8.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GAGAACATCTCCGTTTAGGGT	0.388000													22	25					0	0	0.003330	0	0
UBBP4	23666	broad.mit.edu	37	17	21731256	21731256	+	Silent	SNP	A	A	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:21731256A>G	ENST00000584755.1	+	2	955	c.558A>G	c.(556-558)gaA>gaG	p.E186E	UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Intron																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						AAGATAAAGAAGGCATCCCCC	0.532000													18	57					0	0	0.008871	0	0
HERC2	8924	broad.mit.edu	37	15	28447305	28447305	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:28447305G>A	ENST00000261609.7	-	47	7679	c.7571C>T	c.(7570-7572)tCt>tTt	p.S2524F		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	2524					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTCCTCGTCAGAATACTCGTC	0.622000													10	18					0	0	0.001368	0	0
DNAH7	56171	broad.mit.edu	37	2	196728875	196728875	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:196728875G>A	ENST00000312428.6	-	41	7604	c.7504C>T	c.(7504-7506)Cag>Tag	p.Q2502*		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2502	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GACAATACCTGAAACCAGTCA	0.393000													12	24					0	0	0.000978	0	0
ZNF728	388523	broad.mit.edu	37	19	23159561	23159561	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:23159561C>T	ENST00000594710.1	-	4	723	c.578G>A	c.(577-579)aGa>aAa	p.R193K		NM_001267716.1	NP_001254645.1			zinc finger protein 728																		AGTATAAATTCTTTTATGTTG	0.333000													8	21					0	0	0.004482	0	0
TTN	7273	broad.mit.edu	37	2	179597410	179597410	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:179597410C>T	ENST00000589042.1	-	56	16602	c.16378G>A	c.(16378-16380)Gat>Aat	p.D5460N	TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.D5143N|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.D4216N|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5143	Ig-like 35.						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)			GGCAGAACATCCTTTGAGCCG	0.448000													6	16					0	0	0.003080	0	0
NF1	4763	broad.mit.edu	37	17	29533315	29533315	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:29533315C>T	ENST00000358273.4	+	12	1701	c.1318C>T	c.(1318-1320)Cga>Tga	p.R440*	NF1_ENST00000431387.4_Nonsense_Mutation_p.R440*|NF1_ENST00000356175.3_Nonsense_Mutation_p.R440*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	440					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(6)|p.R440*(3)|p.R440>?(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GGTTGAACTTCGAAATATGTT	0.398000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			28	67					0	0	0.008361	0	0
MUSK	4593	broad.mit.edu	37	9	113538218	113538218	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:113538218G>A	ENST00000374438.1	+	1	592	c.109G>A	c.(109-111)Ggc>Agc	p.G37S	MUSK_ENST00000189978.5_Silent_p.T445T|MUSK_ENST00000416899.2_Silent_p.T445T|MUSK_ENST00000374448.4_Silent_p.T445T			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	0	Ig-like 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						GGGACCCCACGGCCTGTGCCA	0.473000													47	129					0	0	0.003610	0	0
PNPLA4	8228	broad.mit.edu	37	X	7894014	7894014	+	Silent	SNP	A	A	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:7894014A>G	ENST00000381042.4	-	2	317	c.147T>C	c.(145-147)gcT>gcC	p.A49A	PNPLA4_ENST00000537427.1_Intron|PNPLA4_ENST00000444736.1_Silent_p.A49A	NM_004650.2	NP_004641.1	P41247	PLPL4_HUMAN	patatin-like phospholipase domain containing 4	49	Patatin.				lipid catabolic process		triglyceride lipase activity			kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)				GCAGAACAGAAGCAACCAACG	0.458000											OREG0019651	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	41					0	0	0.002450	0	0
KCNN2	3781	broad.mit.edu	37	5	113822788	113822788	+	Silent	SNP	A	A	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:113822788A>T	ENST00000512097.3	+	7	2314	c.1296A>T	c.(1294-1296)ctA>ctT	p.L432L	KCNN2_ENST00000503706.1_Silent_p.L84L|KCNN2_ENST00000507750.1_3'UTR|KCNN2_ENST00000264773.3_Silent_p.L432L			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	432	Calmodulin-binding (By similarity).					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		AAACATGGCTAATTTACAAAA	0.328000													23	37					0	0	0.002780	0	0
ANK3	288	broad.mit.edu	37	10	61802491	61802491	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:61802491C>T	ENST00000280772.1	-	43	13283	c.13092G>A	c.(13090-13092)acG>acA	p.T4364T	ANK3_ENST00000503366.1_Silent_p.T1855T|ANK3_ENST00000373827.2_Silent_p.T1848T|ANK3_ENST00000355288.2_Silent_p.T988T	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	4364					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTTCTTTCTTCGTTTTCACCT	0.398000													21	71					0	0	0.003954	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414934	14414934	+	RNA	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr21:14414934G>A	ENST00000507941.1	+	0	95																											CAACTCTGATGAAGGTAAATG	0.393000													4	32					0	0	0.009096	0	0
CSTF2	1478	broad.mit.edu	37	X	100088234	100088234	+	Silent	SNP	T	T	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:100088234T>C	ENST00000415585.2	+	12	1355	c.1333T>C	c.(1333-1335)Tta>Cta	p.L445L	CSTF2_ENST00000372972.2_Silent_p.L425L|CSTF2_ENST00000486615.1_3'UTR			P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	425	12 X 5 AA tandem repeats of M-E-A-R-[AG].				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						GGCAAGAGGGTTAGATGCCAG	0.557000													8	15					0	0	0.008291	0	0
AGAP1	116987	broad.mit.edu	37	2	236957847	236957847	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:236957847C>T	ENST00000409538.1	+	15	3168	c.2672C>T	c.(2671-2673)tCc>tTc	p.S891F	AGAP1_ENST00000336665.5_Missense_Mutation_p.S626F|AGAP1_ENST00000304032.7_Missense_Mutation_p.S679F|AGAP1_ENST00000428334.2_Missense_Mutation_p.S518F			Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	679					protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						GTGATGTCATCCATCGGGAAC	0.567000													29	72					0	0	0.006320	0	0
OR6C4	341418	broad.mit.edu	37	12	55945204	55945204	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:55945204C>T	ENST00000394256.2	+	1	222	c.194C>T	c.(193-195)tCc>tTc	p.S65F	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S65F(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						CGGAATTTCTCCTTCTTAGAA	0.428000													47	89					0	0	0.003610	0	0
ZNF679	168417	broad.mit.edu	37	7	63720662	63720662	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:63720662C>T	ENST00000421025.1	+	3	372	c.103C>T	c.(103-105)Cac>Tac	p.H35Y	ZNF679_ENST00000255746.4_Missense_Mutation_p.H35Y	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	35	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						ATGCCTGGATCACGCTCAGCA	0.383000													32	72					0	0	0.004878	0	0
CPN1	1369	broad.mit.edu	37	10	101814184	101814184	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:101814184C>T	ENST00000370418.3	-	7	1282	c.1031G>A	c.(1030-1032)gGa>gAa	p.G344E		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	344					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		AAGCACCATTCCCTTGATGCC	0.413000													31	66					0	0	0.008361	0	0
AOX1	316	broad.mit.edu	37	2	201503014	201503014	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:201503014G>A	ENST00000374700.2	+	23	2798	c.2557G>A	c.(2557-2559)Gga>Aga	p.G853R	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	853					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	p.G853*(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TCCTTACCTTGGAAAGTACAA	0.453000													26	53					0	0	0.006320	0	0
GUCY2C	2984	broad.mit.edu	37	12	14827637	14827637	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:14827637G>A	ENST00000261170.3	-	8	1142	c.1006C>T	c.(1006-1008)Ctg>Ttg	p.L336L	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	336					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						AATATCTTCAGCATATGTCCA	0.353000													28	48					0	0	0.006320	0	0
ATP1B4	23439	broad.mit.edu	37	X	119500515	119500515	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:119500515G>A	ENST00000218008.3	+	2	256	c.199G>A	c.(199-201)Gaa>Aaa	p.E67K	ATP1B4_ENST00000361319.3_Missense_Mutation_p.E67K|ATP1B4_ENST00000539306.1_Missense_Mutation_p.E67K	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	67	Glu-rich.				ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						ggaagaggaggaaaaggagga	0.527000													13	35					0	0	0.001368	0	0
TFEC	22797	broad.mit.edu	37	7	115596807	115596807	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:115596807C>T	ENST00000265440.7	-	4	488	c.308G>A	c.(307-309)gGa>gAa	p.G103E	TFEC_ENST00000457268.1_Missense_Mutation_p.G36E|TFEC_ENST00000393485.1_Missense_Mutation_p.G74E|TFEC_ENST00000484212.1_Missense_Mutation_p.G193E|TFEC_ENST00000320239.7_Missense_Mutation_p.G74E	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	103	Necessary for transcriptional transactivation.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			TGGTGAAATTCCTTGTTCACC	0.333000													13	53					0	0	0.001855	0	0
SLC16A9	220963	broad.mit.edu	37	10	61443980	61443980	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:61443980A>G	ENST00000395348.3	-	2	706	c.70T>C	c.(70-72)Ttt>Ctt	p.F24L	SLC16A9_ENST00000490066.1_5'UTR|SLC16A9_ENST00000395347.1_Missense_Mutation_p.F24L	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	24					urate metabolic process	integral to membrane|plasma membrane	symporter activity			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						TAACACAAAAACTGAGTAAGG	0.478000													36	91					0	0	0.006230	0	0
SCARF1	8578	broad.mit.edu	37	17	1538487	1538487	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:1538487G>A	ENST00000263071.4	-	11	2107	c.2058C>T	c.(2056-2058)ggC>ggT	p.G686G	SCARF1_ENST00000348987.3_Silent_p.G600G|SCARF1_ENST00000571272.1_3'UTR	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	686	Gly-rich.				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TGGTCACAGGGCCCGAGCTCT	0.657000													15	38					0	0	0.004990	0	0
KCNB2	9312	broad.mit.edu	37	8	73849561	73849561	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:73849561G>A	ENST00000523207.1	+	3	2559	c.1971G>A	c.(1969-1971)gaG>gaA	p.E657E		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	657			E -> G (in dbSNP:rs16938507).		regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TATCCAGAGAGAAAGGACCTG	0.567000													18	51					0	0	0.007413	0	0
MMD	23531	broad.mit.edu	37	17	53481219	53481219	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:53481219G>A	ENST00000262065.3	-	5	651	c.355C>T	c.(355-357)Cgt>Tgt	p.R119C		NM_012329.2	NP_036461.2	Q15546	PAQRB_HUMAN	monocyte to macrophage differentiation-associated	119					cytolysis	integral to plasma membrane|late endosome membrane|lysosomal membrane|membrane fraction	receptor activity			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						CCAAGTTCACGAAGATTTAAC	0.383000													21	55					0	0	0.001882	0	0
FAM169B	283777	broad.mit.edu	37	15	99023990	99023990	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:99023990T>C	ENST00000558256.1	-	4	272	c.23A>G	c.(22-24)gAa>gGa	p.E8G	FAM169B_ENST00000332908.4_Missense_Mutation_p.E8G	NM_182562.2	NP_872368.2	Q8N8A8	F169B_HUMAN	family with sequence similarity 169, member B	8										large_intestine(3)|lung(3)|urinary_tract(1)	7						CACAACCCTTTCCCCAAACGA	0.373000													14	27					0	0	0.002450	0	0
FRAS1	80144	broad.mit.edu	37	4	79371446	79371446	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:79371446C>T	ENST00000264895.6	+	45	6856	c.6416C>T	c.(6415-6417)tCt>tTt	p.S2139F		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2138					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GAGCAAATTTCTATTAAAGGC	0.502000													27	61					0	0	0.009535	0	0
CLCN7	1186	broad.mit.edu	37	16	1498401	1498401	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:1498401G>A	ENST00000382745.4	-	21	2573	c.1968C>T	c.(1966-1968)tcC>tcT	p.S656S	CLCN7_ENST00000262318.8_Silent_p.S632S|CLCN7_ENST00000448525.1_Silent_p.S632S	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	656	CBS 1.					integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				CGTTGTGATTGGACGCCGTGT	0.632000													15	29					0	0	0.003163	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858383	9858383	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:9858383C>T	ENST00000396573.2	-	14	3327	c.3018G>A	c.(3016-3018)gcG>gcA	p.A1006A	GRIN2A_ENST00000330684.3_Silent_p.A1006A|GRIN2A_ENST00000562109.1_Silent_p.A1006A|GRIN2A_ENST00000396575.2_Silent_p.A1006A|GRIN2A_ENST00000404927.2_Silent_p.A1006A|GRIN2A_ENST00000535259.1_Silent_p.A849A	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1006					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.A1006A(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTCTAGAGTTCGCTTTGGATT	0.507000													34	66					0	0	0.002836	0	0
TGM4	7047	broad.mit.edu	37	3	44952563	44952563	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:44952563G>A	ENST00000296125.4	+	12	1788	c.1720G>A	c.(1720-1722)Gaa>Aaa	p.E574K		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	574					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	GGAGTCTAAGGAAATCATGGC	0.468000													25	69					0	0	0.003954	0	0
WAS	7454	broad.mit.edu	37	X	48546827	48546827	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:48546827G>A	ENST00000376701.4	+	9	991	c.916G>A	c.(916-918)Gag>Aag	p.E306K		NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome	306					blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				TGTGCGGCAGGAGATGAGGCG	0.577000			"""Mis, N, F, S"""			lymphoma							11	23					0	0	0.001368	0	0
TNR	7143	broad.mit.edu	37	1	175375367	175375367	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:175375367C>T	ENST00000367674.1	-	3	1192	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K	TNR_ENST00000263525.2_Missense_Mutation_p.E162K	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	162	Cys-rich.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GCAGCACTTTCTTGGCAGCAG	0.612000													25	33					0	0	0.007291	0	0
C8orf34	116328	broad.mit.edu	37	8	69434140	69434140	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:69434140C>T	ENST00000337103.4	+	5	2131	c.539C>T	c.(538-540)cCt>cTt	p.P180L	C8orf34_ENST00000539993.1_Missense_Mutation_p.P205L|C8orf34_ENST00000348340.2_Missense_Mutation_p.P205L|C8orf34_ENST00000349492.3_3'UTR|C8orf34_ENST00000518698.1_Missense_Mutation_p.P291L			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	205					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			ATGCTACAGCCTCCAATTCCA	0.443000													19	34					0	0	0.008871	0	0
BZRAP1	9256	broad.mit.edu	37	17	56389042	56389042	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:56389042G>A	ENST00000355701.3	-	18	3841	c.2971C>T	c.(2971-2973)Ccc>Tcc	p.P991S	BZRAP1_ENST00000343736.4_Missense_Mutation_p.P991S|BZRAP1_ENST00000268893.6_Missense_Mutation_p.P931S	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	991	Fibronectin type-III 3.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCAGGGGAGGGCCCAGGCTCG	0.617000													13	27					0	0	0.001855	0	0
ZNF407	55628	broad.mit.edu	37	18	72347218	72347218	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:72347218C>T	ENST00000299687.5	+	1	4243	c.4243C>T	c.(4243-4245)Cgc>Tgc	p.R1415C	ZNF407_ENST00000577538.1_Missense_Mutation_p.R1415C|ZNF407_ENST00000309902.6_Missense_Mutation_p.R1415C|ZNF407_ENST00000582337.1_Missense_Mutation_p.R1415C	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1415				R -> C (in Ref. 2; BAA91077).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TACACGAATTCGCTGTGATGA	0.443000													20	29					0	0	0.008871	0	0
PTPRT	11122	broad.mit.edu	37	20	40727112	40727112	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:40727112G>A	ENST00000373198.3	-	28	4096	c.3861C>T	c.(3859-3861)ttC>ttT	p.F1287F	PTPRT_ENST00000373187.1_Silent_p.F1265F|PTPRT_ENST00000373190.1_Silent_p.F1264F|PTPRT_ENST00000356100.2_Silent_p.F1274F|PTPRT_ENST00000373201.1_Silent_p.F1255F|PTPRT_ENST00000373193.3_Silent_p.F1268F|PTPRT_ENST00000373184.1_Silent_p.F1275F	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1265	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.F1287F(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				AGTTGTAATCGAACACCAGCC	0.592000													23	48					0	0	0.002780	0	0
MIR517C	574492	broad.mit.edu	37	19	54244625	54244625	+	RNA	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:54244625C>T	ENST00000385103.1	+	0	59					NR_030214.1																						AAGAAAAGATCGTGCATCCTT	0.403000													15	29					0	0	0.006122	0	0
TRIM9	114088	broad.mit.edu	37	14	51467457	51467457	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:51467457C>T	ENST00000298355.3	-	6	2529	c.1408G>A	c.(1408-1410)Gtg>Atg	p.V470M	TRIM9_ENST00000338969.5_Missense_Mutation_p.V466M|TRIM9_ENST00000360392.4_Missense_Mutation_p.V470M	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	470	Fibronectin type-III.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					TCGGCGGGCACCGTGGACAGA	0.542000													13	39					0	0	0.003163	0	0
HIPK4	147746	broad.mit.edu	37	19	40886649	40886649	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:40886649C>T	ENST00000291823.2	-	3	1533	c.1249G>A	c.(1249-1251)Gag>Aag	p.E417K		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	417						cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			GGTGCCTTCTCCTCTCGGAAG	0.627000													32	71					0	0	0.002096	0	0
ALDH16A1	126133	broad.mit.edu	37	19	49963007	49963007	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:49963007T>C	ENST00000293350.4	+	4	564	c.401T>C	c.(400-402)gTt>gCt	p.V134A	ALDH16A1_ENST00000540132.1_Intron|ALDH16A1_ENST00000433981.2_5'UTR|ALDH16A1_ENST00000455361.2_Missense_Mutation_p.V134A	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	134							oxidoreductase activity|protein binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		GTTCGAGAGGTTCGAGACGGG	0.647000													13	37					0	0	0.001855	0	0
AOX1	316	broad.mit.edu	37	2	201503015	201503015	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:201503015G>A	ENST00000374700.2	+	23	2799	c.2558G>A	c.(2557-2559)gGa>gAa	p.G853E	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	853					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CCTTACCTTGGAAAGTACAAA	0.458000													26	50					0	0	0.006320	0	0
SVEP1	79987	broad.mit.edu	37	9	113170129	113170129	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:113170129G>A	ENST00000401783.2	-	38	8087	c.7751C>T	c.(7750-7752)cCt>cTt	p.P2584L	SVEP1_ENST00000297826.5_Missense_Mutation_p.P510L|SVEP1_ENST00000374469.1_Missense_Mutation_p.P2561L	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2584	Sushi 20.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CTGAAACCCAGGGAAGCAACT	0.488000													17	67					0	0	0.004990	0	0
BACH1	571	broad.mit.edu	37	21	30698572	30698572	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr21:30698572A>C	ENST00000399921.1	+	3	670	c.427A>C	c.(427-429)Aaa>Caa	p.K143Q	BACH1_ENST00000286800.3_Missense_Mutation_p.K143Q	NM_206866.1	NP_996749.1	O14867	BACH1_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	143						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						ATGCCCAAGAAAAAAATGCTT	0.373000													15	29					0	0	0.003163	0	0
GADL1	339896	broad.mit.edu	37	3	30891538	30891538	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:30891538C>T	ENST00000454381.3	-	6	647	c.601G>A	c.(601-603)Gaa>Aaa	p.E201K	GADL1_ENST00000282538.5_Missense_Mutation_p.E201K			Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	201					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25					Pyridoxal Phosphate(DB00114)	AGCCCCTTTTCCTTAATATCA	0.323000													22	20					0	0	0.003330	0	0
PHKB	5257	broad.mit.edu	37	16	47621611	47621611	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:47621611C>T	ENST00000455779.1	+	10	971	c.786C>T	c.(784-786)ctC>ctT	p.L262L	PHKB_ENST00000323584.5_Silent_p.L269L|PHKB_ENST00000299167.8_Silent_p.L269L|PHKB_ENST00000567402.1_3'UTR|PHKB_ENST00000566044.1_Silent_p.L262L			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	269					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				TTGTGGATCTCGATGCTCACA	0.358000													12	41					0	0	0.001855	0	0
ZNF782	158431	broad.mit.edu	37	9	99581524	99581524	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:99581524G>A	ENST00000481138.1	-	6	1442	c.781C>T	c.(781-783)Cct>Tct	p.P261S	ZNF782_ENST00000535338.1_Missense_Mutation_p.P129S	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	261					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				ATGTTCTGAGGAATAATAAAG	0.353000													22	44					0	0	0.010504	0	0
SLC26A9	115019	broad.mit.edu	37	1	205884511	205884511	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:205884511G>A	ENST00000367135.3	-	21	2463	c.2350C>T	c.(2350-2352)Cac>Tac	p.H784Y	SLC26A9_ENST00000367134.2_Missense_Mutation_p.H784Y|SLC26A9_ENST00000340781.4_Missense_Mutation_p.H784Y	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	784						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			GTCTCTGCGTGAAACATGCTC	0.582000													60	92					0	0	0.003610	0	0
TMEM119	338773	broad.mit.edu	37	12	108985963	108985963	+	Missense_Mutation	SNP	G	G	A	rs146247958		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:108985963G>A	ENST00000392806.3	-	2	365	c.197C>T	c.(196-198)tCg>tTg	p.S66L		NM_181724.2	NP_859075.2	Q4V9L6	TM119_HUMAN	transmembrane protein 119	66						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						GGGCCCCATCGATGTGGGGCT	0.672000													13	41					0	0	0.002450	0	0
BEND4	389206	broad.mit.edu	37	4	42119643	42119643	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:42119643C>T	ENST00000502486.1	-	6	2076	c.1497G>A	c.(1495-1497)gcG>gcA	p.A499A	BEND4_ENST00000504360.1_3'UTR	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	499										NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						AAGTCCCCACCGCCCGCCCCT	0.542000													8	9					0	0	0.004482	0	0
GPHN	10243	broad.mit.edu	37	14	67579811	67579811	+	Missense_Mutation	SNP	C	C	T	rs138042556		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:67579811C>T	ENST00000478722.1	+	16	2670	c.1549C>T	c.(1549-1551)Ctt>Ttt	p.L517F	GPHN_ENST00000315266.5_Missense_Mutation_p.L484F|GPHN_ENST00000305960.9_Missense_Mutation_p.L453F|GPHN_ENST00000543237.1_Missense_Mutation_p.L530F|GPHN_ENST00000544752.2_3'UTR	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN	gephyrin	484	MPT adenylyltransferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		AGAGATTGGTCTTCTGGCAAC	0.443000			T	MLL	AL								14	28					0	0	0.003163	0	0
PARP14	54625	broad.mit.edu	37	3	122414467	122414467	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:122414467C>T	ENST00000474629.2	+	5	1059	c.793C>T	c.(793-795)Cct>Tct	p.P265S		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	265					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		TGAATATTTTCCTGAAGAGAG	0.373000													7	12					0	0	0.003080	0	0
OR1J4	26219	broad.mit.edu	37	9	125282145	125282145	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:125282145C>T	ENST00000340750.1	+	1	726	c.726C>T	c.(724-726)ggC>ggT	p.G242G		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						CCACCTGTGGCTCTCACCTCT	0.473000													25	44					0	0	0.003954	0	0
TESPA1	9840	broad.mit.edu	37	12	55356606	55356606	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:55356606G>A	ENST00000524622.1	-	7	1323	c.662C>T	c.(661-663)cCa>cTa	p.P221L	TESPA1_ENST00000531122.1_Missense_Mutation_p.P221L|TESPA1_ENST00000316577.8_Missense_Mutation_p.P359L|TESPA1_ENST00000532804.1_Missense_Mutation_p.P221L|TESPA1_ENST00000449076.1_Missense_Mutation_p.P359L	NM_001261844.1|NM_014796.2	NP_001248773.1|NP_055611.1	A2RU30	K0748_HUMAN	thymocyte expressed, positive selection associated 1	359																	GAAGACACATGGATAGGGAGA	0.522000													4	31					0	0	0.009096	0	0
NOVA1	4857	broad.mit.edu	37	14	26917978	26917978	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:26917978G>A	ENST00000539517.2	-	5	1028	c.711C>T	c.(709-711)atC>atT	p.I237I	NOVA1_ENST00000465357.2_Silent_p.I213I|NOVA1_ENST00000267422.7_Silent_p.I115I	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	240	KH 2.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TCTTCTGGATGATAAGTTCAA	0.468000													33	49					0	0	0.003755	0	0
IGHV3-48	28424	broad.mit.edu	37	14	106993908	106993908	+	RNA	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:106993908C>T	ENST00000390624.2	-	0	335																											GATGGTGAATCGGCCCTTCAC	0.502000													10	401					0	0	0.001855	0	0
DROSHA	29102	broad.mit.edu	37	5	31472318	31472318	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:31472318G>A	ENST00000511367.2	-	16	2337	c.2093C>T	c.(2092-2094)tCc>tTc	p.S698F	DROSHA_ENST00000442743.1_Missense_Mutation_p.S661F|DROSHA_ENST00000344624.3_Missense_Mutation_p.S698F|DROSHA_ENST00000513349.1_Missense_Mutation_p.S661F	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	698	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				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						CTGGTGCATGGACAGCACTTC	0.493000													19	50					0	0	0.007413	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519565	113519565	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:113519565C>T	ENST00000284601.3	-	4	1650	c.1582G>A	c.(1582-1584)Gaa>Aaa	p.E528K		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	528					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CTTTGTTTTTCATTAACACCT	0.348000													15	34					0	0	0.002450	0	0
PCSK5	5125	broad.mit.edu	37	9	78789959	78789959	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:78789959C>T	ENST00000545128.1	+	14	2352	c.1814C>T	c.(1813-1815)cCa>cTa	p.P605L	PCSK5_ENST00000376752.4_Missense_Mutation_p.P605L|PCSK5_ENST00000376767.3_Missense_Mutation_p.P605L	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	605					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CCATATTCACCAACCAATGAA	0.463000													16	54					0	0	0.004007	0	0
SAMD7	344658	broad.mit.edu	37	3	169644946	169644946	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:169644946C>T	ENST00000428432.2	+	6	1285	c.896C>T	c.(895-897)cCa>cTa	p.P299L	SAMD7_ENST00000335556.3_Missense_Mutation_p.P299L	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	299										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			GTTTGCCCTCCAGTTCCTCGA	0.512000													22	75					0	0	0.003954	0	0
PCDHB1	29930	broad.mit.edu	37	5	140432487	140432487	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:140432487G>A	ENST00000306549.3	+	1	1509	c.1432G>A	c.(1432-1434)Gat>Aat	p.D478N		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		478	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCATGCTGAGGATCTTGATTT	0.393000													21	38					0	0	0.010504	0	0
DNAH7	56171	broad.mit.edu	37	2	196825381	196825381	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:196825381C>T	ENST00000312428.6	-	18	2594	c.2494G>A	c.(2494-2496)Gaa>Aaa	p.E832K		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	832	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTGAAATCTTCCACCTTTGAT	0.413000													27	53					0	0	0.005443	0	0
IL9R	3581	broad.mit.edu	37	X	155235098	155235098	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:155235098G>A	ENST00000424344.3	+	7	1039	c.672G>A	c.(670-672)tgG>tgA	p.W224*	IL9R_ENST00000540897.1_Nonsense_Mutation_p.W270*|IL9R_ENST00000369423.2_Nonsense_Mutation_p.W280*|IL9R_ENST00000244174.5_Nonsense_Mutation_p.W245*			Q01113	IL9R_HUMAN	interleukin 9 receptor	245	Fibronectin type-III.				cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CAGGCCAGTGGAGTGAGTGGA	0.607000													18	44					0	0	0.008871	0	0
LRRC49	54839	broad.mit.edu	37	15	71305224	71305224	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:71305224C>T	ENST00000260382.5	+	14	1935	c.1675C>T	c.(1675-1677)Cgt>Tgt	p.R559C	LRRC49_ENST00000443425.2_Missense_Mutation_p.R515C|LRRC49_ENST00000560369.1_Missense_Mutation_p.R564C|LRRC49_ENST00000544974.2_Missense_Mutation_p.R549C|LRRC49_ENST00000560158.2_Missense_Mutation_p.R247C|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560691.1_Missense_Mutation_p.R265C	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	559						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						ACCCCAGTATCGTCTGATTTC	0.363000													21	65					0	0	0.001882	0	0
TROAP	10024	broad.mit.edu	37	12	49717983	49717983	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:49717983C>T	ENST00000380327.5	+	4	483	c.383C>T	c.(382-384)cCc>cTc	p.P128L	TROAP_ENST00000549534.1_3'UTR|TROAP_ENST00000549275.1_Intron|TROAP_ENST00000548311.1_Intron|RP11-161H23.9_ENST00000553259.1_RNA|TROAP_ENST00000551245.1_Intron|TROAP_ENST00000550709.1_3'UTR|TROAP_ENST00000257909.3_Intron	NM_001100620.1	NP_001094090.1	Q12815	TROAP_HUMAN	trophinin associated protein	333					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						AGAAGATCTCCCTTTCCTCCA	0.522000													14	36					0	0	0.002450	0	0
CCDC102B	79839	broad.mit.edu	37	18	66564501	66564501	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:66564501G>A	ENST00000360242.5	+	6	1216	c.1099G>A	c.(1099-1101)Gaa>Aaa	p.E367K	CCDC102B_ENST00000584156.1_Missense_Mutation_p.E367K|CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000319445.6_Missense_Mutation_p.E367K|CCDC102B_ENST00000358653.5_Missense_Mutation_p.E367K	NM_024781.2	NP_079057.2	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	367										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				GGACAAGAGGGAAATACTTGA	0.403000													15	62					0	0	0.004990	0	0
CYP2C9	1559	broad.mit.edu	37	10	96740982	96740982	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:96740982G>A	ENST00000260682.6	+	7	1016	c.1004G>A	c.(1003-1005)cGg>cAg	p.R335Q		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	335			R -> W (in allele CYP2C9*11; dbSNP:rs28371685).		exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	GGCAGAAACCGGAGCCCCTGC	0.493000													42	94					0	0	0.003610	0	0
PTK7	5754	broad.mit.edu	37	6	43107157	43107157	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:43107157C>T	ENST00000230419.4	+	10	1733	c.1512C>T	c.(1510-1512)ttC>ttT	p.F504F	PTK7_ENST00000481273.1_Silent_p.F512F|PTK7_ENST00000352931.2_Silent_p.F504F|PTK7_ENST00000349241.2_Intron|PTK7_ENST00000345201.2_Intron	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	504	Ig-like C2-type 6.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			AGCTCAAGTTCACACCACCAC	0.592000													15	35					0	0	0.003163	0	0
OR5K1	26339	broad.mit.edu	37	3	98188564	98188564	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:98188564G>A	ENST00000332650.5	+	1	241	c.144G>A	c.(142-144)ctG>ctA	p.L48L		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGGTGGCACTGATATTTACAC	0.463000													73	274					0	0	0.003610	0	0
FMN2	56776	broad.mit.edu	37	1	240256751	240256751	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:240256751G>A	ENST00000319653.9	+	1	1572	c.1342G>A	c.(1342-1344)Gaa>Aaa	p.E448K		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	448					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GAGGCGGCCGGAACCCTCCCT	0.697000													22	66					0	0	0.002780	0	0
NEFM	4741	broad.mit.edu	37	8	24775118	24775118	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:24775118G>A	ENST00000221166.5	+	3	2532	c.1750G>A	c.(1750-1752)Gag>Aag	p.E584K	NEFM_ENST00000437366.2_Missense_Mutation_p.E584K|NEFM_ENST00000521540.1_Intron|NEFM_ENST00000433454.2_Missense_Mutation_p.E208K|NEFM_ENST00000518131.1_Missense_Mutation_p.E584K			P07197	NFM_HUMAN	neurofilament, medium polypeptide	584	Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		cgaagctaaagaggaaaagaa	0.502000													5	12					0	0	0.000602	0	0
SLC10A2	6555	broad.mit.edu	37	13	103703631	103703631	+	Missense_Mutation	SNP	C	C	T	rs138811603		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr13:103703631C>T	ENST00000245312.3	-	4	1333	c.737G>A	c.(736-738)aGa>aAa	p.R246K		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	246					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					ACCAGCAATTCTAGCCAGAAG	0.423000													18	43					0	0	0.007413	0	0
CYLC2	1539	broad.mit.edu	37	9	105767323	105767323	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:105767323G>A	ENST00000374798.3	+	5	480	c.410G>A	c.(409-411)gGa>gAa	p.G137E	CYLC2_ENST00000487798.1_Missense_Mutation_p.G137E	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	137	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				TTAaaacaaggaaaaaaagat	0.328000													3	24					0	0	0.004672	0	0
AQP2	359	broad.mit.edu	37	12	50348455	50348455	+	Missense_Mutation	SNP	G	G	A	rs104894341		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:50348455G>A	ENST00000199280.3	+	3	653	c.568G>A	c.(568-570)Gct>Act	p.A190T	RP11-469H8.6_ENST00000550530.1_RNA|RP11-469H8.8_ENST00000552806.1_RNA|RP11-469H8.6_ENST00000552379.1_RNA	NM_000486.5	NP_000477.1	P41181	AQP2_HUMAN	aquaporin 2 (collecting duct)	190			A -> T (in ANDI; mutant protein does not fold properly and is not functional).		cellular response to copper ion|cellular response to mercury ion|excretion	apical plasma membrane|integral to membrane|transport vesicle membrane	glycerol transmembrane transporter activity|water channel activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						CCGCTCCCTGGCTCCAGCTGT	0.552000													29	77					0	0	0.002836	0	0
WASF3	10810	broad.mit.edu	37	13	27256917	27256917	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr13:27256917C>T	ENST00000361042.4	+	9	1373	c.1148C>T	c.(1147-1149)cCc>cTc	p.P383L	WASF3_ENST00000335327.5_Missense_Mutation_p.P386L			Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	386					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CCTCACCCACCCTCCACCGGG	0.692000													15	53					0	0	0.004007	0	0
BSN	8927	broad.mit.edu	37	3	49692992	49692992	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:49692992C>T	ENST00000296452.4	+	5	6117	c.6003C>T	c.(6001-6003)atC>atT	p.I2001I		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2001					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)		CCCAGAGGATCGGGCAGCTCT	0.602000													23	75					0	0	0.002780	0	0
MGAT4C	25834	broad.mit.edu	37	12	86373909	86373909	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:86373909G>A	ENST00000604798.1	-	8	1799	c.595C>T	c.(595-597)Cgt>Tgt	p.R199C	MGAT4C_ENST00000552808.2_Missense_Mutation_p.R199C|MGAT4C_ENST00000549405.2_Missense_Mutation_p.R199C|MGAT4C_ENST00000548651.1_Missense_Mutation_p.R199C|MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000332156.1_Missense_Mutation_p.R199C|MGAT4C_ENST00000393205.2_Missense_Mutation_p.R228C			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	199					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TGCTTGGAACGAAATTTGACT	0.338000													20	54					0	0	0.001882	0	0
PLB1	151056	broad.mit.edu	37	2	28748155	28748155	+	Missense_Mutation	SNP	G	G	A	rs139585910		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:28748155G>A	ENST00000422425.2	+	5	309	c.265G>A	c.(265-267)Gat>Aat	p.D89N	PLB1_ENST00000327757.5_Missense_Mutation_p.D89N	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	89	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					AGGGACGGGCGATCTGGAGAA	0.507000													12	18					0	0	0.004007	0	0
GRIP2	80852	broad.mit.edu	37	3	14565975	14565975	+	RNA	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:14565975C>T	ENST00000273083.3	-	0	393							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						ATGATCTCATCGTGGCGGAGC	0.597000													5	6					0	0	0.000602	0	0
PCDHB5	26167	broad.mit.edu	37	5	140515463	140515463	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:140515463G>A	ENST00000231134.5	+	1	664	c.447G>A	c.(445-447)ggG>ggA	p.G149G		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		149	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCAGCCAGGGACTGTGTTTC	0.448000													35	60					0	0	0.004289	0	0
MIEF2	125170	broad.mit.edu	37	17	18167891	18167891	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:18167891C>T	ENST00000323019.4	+	4	1389	c.1178C>T	c.(1177-1179)aCg>aTg	p.T393M	SMCR7_ENST00000395704.4_3'UTR|SMCR7_ENST00000395706.2_Missense_Mutation_p.T404M	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	SMCR7_HUMAN		393						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(4)	9	all_neural(463;0.228)					GTGGATTGGACGGAGGAGGCC	0.667000													26	66					0	0	0.006320	0	0
SEC24D	9871	broad.mit.edu	37	4	119736660	119736660	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:119736660G>A	ENST00000379735.5	-	5	890	c.619C>T	c.(619-621)Cag>Tag	p.Q207*	SEC24D_ENST00000419654.2_5'UTR|SEC24D_ENST00000280551.6_Nonsense_Mutation_p.Q207*	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	207	Pro-rich.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						GGTGGGGGCTGGTACTGGGCA	0.602000													20	38					0	0	0.007413	0	0
TOR2A	27433	broad.mit.edu	37	9	130494359	130494359	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:130494359G>A	ENST00000373284.5	-	5	966	c.920C>T	c.(919-921)tCc>tTc	p.S307F	TOR2A_ENST00000373281.5_3'UTR|TOR2A_ENST00000336067.6_3'UTR|TOR2A_ENST00000472723.1_5'UTR|TOR2A_ENST00000458505.3_3'UTR	NM_001085347.2	NP_001078816.1	Q5JU69	TOR2A_HUMAN	torsin family 2, member A	307					chaperone mediated protein folding requiring cofactor	endoplasmic reticulum|extracellular region	ATP binding|nucleoside-triphosphatase activity			NS(1)|endometrium(2)	3						GCAGCCGTTGGAGGAGAAGAG	0.627000													31	61					0	0	0.002445	0	0
IGHMBP2	3508	broad.mit.edu	37	11	68704194	68704194	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:68704194C>T	ENST00000255078.3	+	13	2357	c.2246C>T	c.(2245-2247)tCc>tTc	p.S749F		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	749	R3H.				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TTTCCTCCTTCCCTCAATTCC	0.587000													16	17					0	0	0.004990	0	0
OR10H5	284433	broad.mit.edu	37	19	15905325	15905325	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:15905325G>A	ENST00000308940.8	+	1	565	c.467G>A	c.(466-468)gGg>gAg	p.G156E		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						TTGGTCATGGGGATGGTGGTG	0.612000													24	52					0	0	0.006320	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15587070	15587070	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:15587070G>A	ENST00000292609.4	-	2	540	c.411C>T	c.(409-411)gtC>gtT	p.V137V	PGLYRP2_ENST00000340880.4_Silent_p.V137V			Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	137					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GCAAATTTATGACCCTGCGCC	0.602000													32	58					0	0	0.009535	0	0
MYOF	26509	broad.mit.edu	37	10	95111581	95111581	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:95111581G>A	ENST00000371501.4	-	33	3626	c.3504C>T	c.(3502-3504)ttC>ttT	p.F1168F	MYOF_ENST00000371502.4_Silent_p.F1168F|MYOF_ENST00000358334.5_Silent_p.F1155F|MYOF_ENST00000359263.4_Silent_p.F1168F			Q9NZM1	MYOF_HUMAN	myoferlin	1168	C2 4.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TCCGATGGAGGAAACAGATAT	0.438000													14	35					0	0	0.004007	0	0
BAIAP2	10458	broad.mit.edu	37	17	79080642	79080642	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:79080642C>T	ENST00000321300.6	+	12	1528	c.1435C>T	c.(1435-1437)Ccc>Tcc	p.P479S	BAIAP2_ENST00000416299.2_Missense_Mutation_p.P342S|BAIAP2_ENST00000392411.3_Missense_Mutation_p.P401S|BAIAP2_ENST00000575245.1_Missense_Mutation_p.P512S|BAIAP2_ENST00000435091.3_Missense_Mutation_p.P479S|BAIAP2_ENST00000575712.1_Missense_Mutation_p.P479S|BAIAP2_ENST00000428708.2_Missense_Mutation_p.P479S|BAIAP2_ENST00000321280.7_Missense_Mutation_p.P479S	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	479					axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CCGGGCCTTCCCCGCCCAGAC	0.726000													19	18					0	0	0.001882	0	0
TRHR	7201	broad.mit.edu	37	8	110131616	110131616	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:110131616C>T	ENST00000518632.1	+	3	1480	c.1129C>T	c.(1129-1131)Ctg>Ttg	p.L377L	TRHR_ENST00000311762.2_Silent_p.L377L			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	377						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			TGACACTTACCTGTCTGCCAC	0.423000													24	74					0	0	0.003330	0	0
HUWE1	10075	broad.mit.edu	37	X	53564554	53564554	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:53564554G>A	ENST00000342160.3	-	77	12557	c.12100C>T	c.(12100-12102)Ctg>Ttg	p.L4034L	HUWE1_ENST00000262854.6_Silent_p.L4034L			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4034					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TTGCGATGCAGCTCACGATAG	0.547000													6	34					0	0	0.001168	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50658708	50658708	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr22:50658708G>A	ENST00000439308.2	-	16	4572	c.4080C>T	c.(4078-4080)acC>acT	p.T1360T	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000248846.5_Silent_p.T1360T	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1360					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TGTCTCCCGGGGTGTTGGGCC	0.647000													14	37					0	0	0.003163	0	0
PTPRB	5787	broad.mit.edu	37	12	70980852	70980852	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:70980852T>A	ENST00000334414.6	-	9	2290	c.2246A>T	c.(2245-2247)tAc>tTc	p.Y749F	PTPRB_ENST00000551525.1_Missense_Mutation_p.Y748F|PTPRB_ENST00000550857.1_Missense_Mutation_p.Y441F|PTPRB_ENST00000538708.1_Missense_Mutation_p.Y531F|PTPRB_ENST00000261266.5_Missense_Mutation_p.Y531F|PTPRB_ENST00000451516.2_Missense_Mutation_p.Y441F|PTPRB_ENST00000550358.1_Missense_Mutation_p.Y749F|PTPRB_ENST00000538174.2_5'UTR	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	531	Fibronectin type-III 9.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TGTAGCCATGTATTTTCGTCC	0.378000													28	55					0	0	0.007291	0	0
ACSL4	2182	broad.mit.edu	37	X	108926538	108926538	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:108926538G>A	ENST00000340800.2	-	4	682	c.178C>T	c.(178-180)Cgc>Tgc	p.R60C	ACSL4_ENST00000348502.6_Missense_Mutation_p.R19C|ACSL4_ENST00000469796.2_Missense_Mutation_p.R60C	NM_022977.2	NP_075266.1	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	60					fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	GTGACAGAGCGATATGGACTT	0.403000													84	181					0	0	0.003610	0	0
CALCRL	10203	broad.mit.edu	37	2	188210982	188210982	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:188210982C>T	ENST00000409998.1	-	16	2096	c.1315G>A	c.(1315-1317)Gaa>Aaa	p.E439K	CALCRL_ENST00000392370.3_Missense_Mutation_p.E439K|AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000410068.1_Missense_Mutation_p.E439K|AC007319.1_ENST00000412276.1_RNA			Q16602	CALRL_HUMAN	calcitonin receptor-like	439						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			TTTAAGTGTTCACTAGGACAG	0.353000													6	26					0	0	0.001984	0	0
RNF133	168433	broad.mit.edu	37	7	122338180	122338180	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:122338180G>A	ENST00000340112.2	-	1	1030	c.793C>T	c.(793-795)Cct>Tct	p.P265S	CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000412584.2_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	265						endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						ATGTCATTAGGCTTATAGCGT	0.403000													32	108					0	0	0.003271	0	0
CTC-260E6.6	0	broad.mit.edu	37	19	20369281	20369281	+	RNA	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:20369281G>A	ENST00000593655.1	-	0	199																											GGCATAGTACGAAATTGGGAT	0.378000													35	72					0	0	0.004289	0	0
C2orf71	388939	broad.mit.edu	37	2	29296596	29296596	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:29296596C>T	ENST00000331664.5	-	1	531	c.532G>A	c.(532-534)Gag>Aag	p.E178K		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	178					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						ACCAGAGGCTCCGGGAAGTCC	0.522000													28	51					0	0	0.007291	0	0
CNOT6L	246175	broad.mit.edu	37	4	78697486	78697486	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:78697486G>A	ENST00000504123.1	-	2	196	c.66C>T	c.(64-66)atC>atT	p.I22I	CNOT6L_ENST00000506166.1_5'UTR|CNOT6L_ENST00000264903.4_Silent_p.I22I			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	22					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						CTGCTGACATGATGGTATAAA	0.368000													25	59					0	0	0.004656	0	0
ERCC6	2074	broad.mit.edu	37	10	50740990	50740990	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:50740990G>A	ENST00000355832.5	-	2	99	c.21C>T	c.(19-21)ccC>ccT	p.P7P	ERCC6-PGBD3_ENST00000447839.2_Silent_p.P7P|ERCC6-PGBD3_ENST00000515869.1_Silent_p.P7P|PGBD3_ENST00000603152.1_Silent_p.P7P	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	7					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GACTTGAGTGGGGGATTCCCT	0.373000								Direct reversal of damage;Nucleotide excision repair (NER)					20	32					0	0	0.001882	0	0
SLC34A2	10568	broad.mit.edu	37	4	25664129	25664129	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:25664129C>T	ENST00000382051.3	+	2	57	c.7C>T	c.(7-9)Ccc>Tcc	p.P3S	SLC34A2_ENST00000503434.1_Missense_Mutation_p.P3S|SLC34A2_ENST00000504570.1_Missense_Mutation_p.P3S	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	3					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				GACCATGGCTCCCTGGCCTGA	0.532000			T	ROS1	NSCLC								14	27					0	0	0.002450	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24261524	24261524	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:24261524C>T	ENST00000538205.1	+	14	1639	c.1092C>T	c.(1090-1092)acC>acT	p.T364T	RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000256412.4_Silent_p.T443T|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000522298.1_Silent_p.T364T	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	443	Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		AGGAGTGTACCAATCTCTGCT	0.433000													9	23					0	0	0.001368	0	0
TRANK1	9881	broad.mit.edu	37	3	36897937	36897937	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:36897937C>T	ENST00000301807.6	-	12	3391	c.1494G>A	c.(1492-1494)aaG>aaA	p.K498K	TRANK1_ENST00000428977.2_Silent_p.K498K|TRANK1_ENST00000429976.2_Silent_p.K1048K	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1048					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CGTGGAATTTCTTCCACAATC	0.532000													13	37					0	0	0.001368	0	0
ITPKB	3707	broad.mit.edu	37	1	226835002	226835002	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:226835002C>T	ENST00000429204.1	-	4	2439	c.2112G>A	c.(2110-2112)atG>atA	p.M704I	ITPKB_ENST00000272117.3_Missense_Mutation_p.M704I	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	704							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				GCACATCCACCATCAGCCGGT	0.592000													11	22					0	0	0.001368	0	0
KIF21B	23046	broad.mit.edu	37	1	200969668	200969668	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:200969668C>T	ENST00000332129.2	-	11	1851	c.1535G>A	c.(1534-1536)aGg>aAg	p.R512K	KIF21B_ENST00000360529.5_Missense_Mutation_p.R512K|KIF21B_ENST00000422435.2_Missense_Mutation_p.R512K|KIF21B_ENST00000461742.2_Missense_Mutation_p.R512K	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	512					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GTAGGGGCTCCTAGCCGAGGC	0.667000													23	115					0	0	0.005443	0	0
NDST1	3340	broad.mit.edu	37	5	149918882	149918882	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:149918882C>T	ENST00000261797.6	+	7	2032	c.1530C>T	c.(1528-1530)aaC>aaT	p.N510N	NDST1_ENST00000523767.1_Silent_p.N510N	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	510	Heparan sulfate N-deacetylase 1.				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGATCATCAACGGGGGCGAGC	0.607000													43	123					0	0	0.002522	0	0
ZNF676	163223	broad.mit.edu	37	19	22364370	22364370	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:22364370G>A	ENST00000397121.2	-	3	466	c.149C>T	c.(148-150)tCc>tTc	p.S50F		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	50					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AAACTCTTGGGAAAAATGAGA	0.274000													8	20					0	0	0.003080	0	0
TRIM69	140691	broad.mit.edu	37	15	45050909	45050909	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:45050909G>A	ENST00000558173.1	+	2	4803	c.58G>A	c.(58-60)Gag>Aag	p.E20K	TRIM69_ENST00000329464.4_Missense_Mutation_p.E224K|TRIM69_ENST00000560442.1_Missense_Mutation_p.E20K|TRIM69_ENST00000559390.1_Missense_Mutation_p.E224K|TRIM69_ENST00000561043.1_Intron|TRIM69_ENST00000558329.1_Missense_Mutation_p.E20K|TRIM69_ENST00000338264.4_Missense_Mutation_p.E65K			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	224	Necessary for nuclear localization (By similarity).				apoptosis	nuclear speck	zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		CATTTTAACTGAGCTCCGGGA	0.463000													8	42					0	0	0.003080	0	0
MGAM	8972	broad.mit.edu	37	7	141765538	141765538	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:141765538C>T	ENST00000475668.2	+	40	4731	c.4677C>T	c.(4675-4677)ttC>ttT	p.F1559F	MGAM_ENST00000549489.2_Intron			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1559	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCTGTGGGTTCTTTCAAGACG	0.493000													14	15					0	0	0.002450	0	0
POLG	5428	broad.mit.edu	37	15	89870213	89870213	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:89870213C>T	ENST00000268124.5	-	8	1848	c.1515G>A	c.(1513-1515)aaG>aaA	p.K505K	POLG_ENST00000442287.2_Silent_p.K505K	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	505					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			TGGCTGGTTCCTTCTTCACCT	0.572000								DNA polymerases (catalytic subunits)					66	148					0	0	0.003610	0	0
OSMR	9180	broad.mit.edu	37	5	38881786	38881786	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:38881786G>A	ENST00000274276.3	+	4	740	c.338G>A	c.(337-339)aGa>aAa	p.R113K	OSMR_ENST00000502536.1_Missense_Mutation_p.R113K	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	113					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					CACTTTGTAAGAATAAAGAGT	0.483000													27	56					0	0	0.004656	0	0
MYO15A	51168	broad.mit.edu	37	17	18025411	18025411	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:18025411C>T	ENST00000205890.5	+	2	3635	c.3297C>T	c.(3295-3297)ccC>ccT	p.P1099P		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1099	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCCCAGAGCCCCTGCCCAAGG	0.682000													27	61					0	0	0.008361	0	0
RNF182	221687	broad.mit.edu	37	6	13977521	13977521	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:13977521C>T	ENST00000488300.1	+	3	694	c.171C>T	c.(169-171)tcC>tcT	p.S57S	RNF182_ENST00000537388.1_Silent_p.S57S|RNF182_ENST00000544682.1_Silent_p.S57S|RNF182_ENST00000537663.1_Silent_p.S57S	NM_152737.3	NP_689950.1	Q8N6D2	RN182_HUMAN	ring finger protein 182	57						cytoplasm|integral to membrane|intracellular membrane-bounded organelle	protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|large_intestine(7)|liver(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	Epithelial(50;0.195)			TTGGGGACTCCCCACAAGGTG	0.463000													28	100					0	0	0.006320	0	0
TDRKH	11022	broad.mit.edu	37	1	151754020	151754020	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:151754020C>T	ENST00000368822.1	-	3	801	c.168G>A	c.(166-168)gaG>gaA	p.E56E	TDRKH_ENST00000458431.2_Silent_p.E56E|TDRKH_ENST00000484421.1_5'UTR|TDRKH_ENST00000368827.6_Silent_p.E56E|TDRKH_ENST00000440583.2_5'UTR|TDRKH_ENST00000368825.3_Silent_p.E56E|TDRKH_ENST00000368823.1_Silent_p.E56E|TDRKH_ENST00000368824.3_Silent_p.E56E			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	56	KH 1.						RNA binding			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GAACCCGCATCTCTATCTCAA	0.463000													22	114					0	0	0.002299	0	0
DIAPH2	1730	broad.mit.edu	37	X	96192235	96192235	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:96192235C>T	ENST00000324765.8	+	11	1440	c.1093C>T	c.(1093-1095)Cta>Tta	p.L365L	DIAPH2_ENST00000373049.4_Silent_p.L365L|DIAPH2_ENST00000373054.4_Silent_p.L361L|DIAPH2_ENST00000355827.4_Silent_p.L365L|DIAPH2_ENST00000373061.3_Silent_p.L365L			O60879	DIAP2_HUMAN	diaphanous-related formin 2	365	GBD/FH3.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						ATATTAGGATCTAAAAGAAAA	0.289000													3	15					0	0	0.004672	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23815461	23815461	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:23815461C>T	ENST00000264867.2	-	8	1764	c.1645G>A	c.(1645-1647)Gat>Aat	p.D549N	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	549					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				GACACAGAATCTCTACATGGA	0.448000													19	36					0	0	0.008871	0	0
ZNF99	7652	broad.mit.edu	37	19	22941198	22941198	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:22941198C>T	ENST00000397104.3	-	5	1239	c.1240G>A	c.(1240-1242)Gaa>Aaa	p.E414K	ZNF99_ENST00000596209.1_Missense_Mutation_p.E505K					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GGTTTCTCTTCCATATGAATT	0.348000													16	27					0	0	0.003163	0	0
MACROD2	140733	broad.mit.edu	37	20	15480430	15480430	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:15480430G>A	ENST00000217246.4	+	8	978	c.583G>A	c.(583-585)Gag>Aag	p.E195K	MACROD2_ENST00000402914.1_5'UTR|MACROD2_ENST00000310348.4_Missense_Mutation_p.E195K	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	195	Macro.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				CTTTCCCAACGAGCCTGCTGC	0.443000													8	38					0	0	0.006214	0	0
PTPN12	5782	broad.mit.edu	37	7	77256824	77256824	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:77256824G>T	ENST00000248594.6	+	13	2100	c.1828G>T	c.(1828-1830)Gaa>Taa	p.E610*	PTPN12_ENST00000435495.2_Nonsense_Mutation_p.E480*|PTPN12_ENST00000415482.2_Nonsense_Mutation_p.E491*	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	610						soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						AGACTCAGATGAAAGAAACTC	0.413000													20	69					1.00905e-13	1.03109e-13	0.008871	1	0
NXF3	56000	broad.mit.edu	37	X	102338549	102338549	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:102338549G>A	ENST00000395065.3	-	4	524	c.423C>T	c.(421-423)ttC>ttT	p.F141F	NXF3_ENST00000425463.2_Silent_p.F52F|NXF3_ENST00000425644.1_5'UTR	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	141	RRM.					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						CAACTGGGACGAAGGGTACAC	0.458000													42	88					0	0	0.002852	0	0
FKBP15	23307	broad.mit.edu	37	9	115940943	115940943	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:115940943C>T	ENST00000238256.3	-	20	2170	c.2053G>A	c.(2053-2055)Ggc>Agc	p.G685S		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	685					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						GTGAGCTGGCCCCTGAGAAGA	0.483000													5	10					0	0	0.000602	0	0
FRMD7	90167	broad.mit.edu	37	X	131216439	131216439	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:131216439G>A	ENST00000298542.4	-	9	1032	c.857C>T	c.(856-858)tCa>tTa	p.S286L	FRMD7_ENST00000370879.1_Missense_Mutation_p.S166L|FRMD7_ENST00000464296.1_Missense_Mutation_p.S271L	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	286					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					TTTGGGCTTTGATTTGGGCTC	0.468000													133	295					0	0	0.003610	0	0
FAM47A	158724	broad.mit.edu	37	X	34148678	34148678	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:34148678G>A	ENST00000346193.3	-	1	1769	c.1718C>T	c.(1717-1719)cCc>cTc	p.P573L		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	573										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TCGAATCTTGGGAGGCTCCGA	0.517000													24	57					0	0	0.003954	0	0
SPTB	6710	broad.mit.edu	37	14	65261206	65261206	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:65261206G>A	ENST00000389722.3	-	12	1827	c.1774C>T	c.(1774-1776)Ctg>Ttg	p.L592L	SPTB_ENST00000556626.1_Silent_p.L592L|SPTB_ENST00000389720.3_Silent_p.L592L|SPTB_ENST00000389721.5_Silent_p.L592L|SPTB_ENST00000542895.1_Silent_p.L592L	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	592					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	p.L592M(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GTGAACTTCAGGGTGGCTGCG	0.532000													56	122					0	0	0.003610	0	0
MYCBP2	23077	broad.mit.edu	37	13	77651477	77651477	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr13:77651477G>A	ENST00000407578.2	-	67	11796	c.11530C>T	c.(11530-11532)Cca>Tca	p.P3844S	MYCBP2_ENST00000357337.6_Missense_Mutation_p.P3806S|MYCBP2-AS1_ENST00000448470.2_RNA|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000544440.2_Missense_Mutation_p.P3806S|MYCBP2-AS1_ENST00000596342.1_RNA|MYCBP2-AS1_ENST00000450627.2_RNA|MYCBP2-AS1_ENST00000422231.2_RNA	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3806	DOC.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TCCCCTCCTGGAAGTTCACTT	0.433000													21	45					0	0	0.010504	0	0
MYO5B	4645	broad.mit.edu	37	18	47398567	47398567	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:47398567C>T	ENST00000285039.7	-	27	3872	c.3573G>A	c.(3571-3573)ccG>ccA	p.P1191P	MYO5B_ENST00000587895.1_5'UTR|MYO5B_ENST00000324581.6_Silent_p.P332P	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1191					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.P1191P(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GATCTGCATTCGGGTCCAAAT	0.507000													117	285					0	0	0.003610	0	0
TMEM202	338949	broad.mit.edu	37	15	72699072	72699072	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:72699072C>T	ENST00000341689.3	+	3	521	c.467C>T	c.(466-468)tCc>tTc	p.S156F	TMEM202_ENST00000567679.1_3'UTR	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	156						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						CTGAAGGTATCCATGCTCAGC	0.443000													50	120					0	0	0.003610	0	0
CYB5A	1528	broad.mit.edu	37	18	71930586	71930586	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:71930586G>A	ENST00000340533.4	-	2	396	c.256C>T	c.(256-258)Cca>Tca	p.P86S	CYB5A_ENST00000299438.9_Missense_Mutation_p.P12S|CYB5A_ENST00000397914.4_Missense_Mutation_p.P86S	NM_001914.3|NM_148923.3	NP_001905.1|NP_683725.1	P00167	CYB5_HUMAN	cytochrome b5 type A (microsomal)	86					electron transport chain|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane	aldo-keto reductase (NADP) activity|cytochrome-c oxidase activity|enzyme binding|heme binding			kidney(1)|large_intestine(1)|lung(1)|skin(1)	4		Esophageal squamous(42;0.0749)|Prostate(75;0.157)|Melanoma(33;0.211)			Methoxyflurane(DB01028)	GTACTTACTGGATGGAGCTCC	0.438000													19	49					0	0	0.008871	0	0
ATP2A3	489	broad.mit.edu	37	17	3844589	3844589	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:3844589G>A	ENST00000309890.7	-	14	1926	c.1776C>T	c.(1774-1776)acC>acT	p.T592T	ATP2A3_ENST00000397035.3_Silent_p.T592T|ATP2A3_ENST00000352011.3_Silent_p.T592T|ATP2A3_ENST00000397043.3_Silent_p.T592T|ATP2A3_ENST00000397041.3_Silent_p.T592T|ATP2A3_ENST00000359983.3_Silent_p.T592T|ATP2A3_ENST00000397039.1_5'UTR	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	592					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		AGCCCACGAAGGTCAGGTCCG	0.657000													15	56					0	0	0.002450	0	0
DNALI1	7802	broad.mit.edu	37	1	38025064	38025064	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:38025064C>T	ENST00000296218.7	+	3	440	c.430C>T	c.(430-432)Cct>Tct	p.P144S	DNALI1_ENST00000541606.1_Intron	NM_003462.3	NP_003453.2	O14645	IDLC_HUMAN	dynein, axonemal, light intermediate chain 1	122					cellular component movement|single fertilization	axonemal dynein complex	microtubule motor activity			breast(1)|kidney(1)|large_intestine(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGGCATCTGCCCTGTCCGCAG	0.592000													18	31					0	0	0.002299	0	0
SLC6A17	388662	broad.mit.edu	37	1	110740128	110740128	+	Silent	SNP	C	C	T	rs145972492		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:110740128C>T	ENST00000331565.4	+	11	2207	c.1722C>T	c.(1720-1722)ttC>ttT	p.F574F		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	574					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		TGTGGAAGTTCGTGTCTCCAC	0.602000											OREG0013652	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	45					0	0	0.004990	0	0
MYO1G	64005	broad.mit.edu	37	7	45006396	45006396	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:45006396C>T	ENST00000258787.7	-	15	1960	c.1824G>A	c.(1822-1824)aaG>aaA	p.K608K		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	608	Myosin head-like.					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						TCCCAGCTACCTTGTCCTCAT	0.637000													50	124					0	0	0.003610	0	0
TTC40	54777	broad.mit.edu	37	10	134743195	134743195	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:134743195A>T	ENST00000368585.3	-	9	1318	c.980T>A	c.(979-981)aTg>aAg	p.M327K	TTC40_ENST00000368582.2_Intron|TTC40_ENST00000368586.5_Intron			Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	0										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CAGCAGTGTCATGAAGCCACT	0.537000													56	47					0	0	0.003610	0	0
SAMD11	148398	broad.mit.edu	37	1	865651	865651	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:865651C>T	ENST00000598827.1	-	4	90	c.91G>A	c.(91-93)Ggg>Agg	p.G31R	SAMD11_ENST00000342066.3_Silent_p.P63P																							GGAGTGGCCCCACCTGTGGGC	0.637000													4	5					0	0	0.009096	0	0
LRP1B	53353	broad.mit.edu	37	2	141208193	141208193	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:141208193C>T	ENST00000389484.3	-	63	10972	c.10001G>A	c.(10000-10002)tGg>tAg	p.W3334*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3334	LDL-receptor class A 21.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTCACATTTCCACCAGAATGG	0.338000										TSP Lung(27;0.18)			14	46					0	0	0.004007	0	0
GDF6	392255	broad.mit.edu	37	8	97172846	97172846	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:97172846C>T	ENST00000287020.5	-	1	174	c.75G>A	c.(73-75)caG>caA	p.Q25Q		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	25					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					AGATGGAAGCCTGCTGGAAAC	0.632000													36	65					0	0	0.007835	0	0
TDRD6	221400	broad.mit.edu	37	6	46657203	46657203	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:46657203C>T	ENST00000544460.1	+	1	1592	c.1338C>T	c.(1336-1338)gtC>gtT	p.V446V	TDRD6_ENST00000316081.6_Silent_p.V446V	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	446					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			CTGACCGAGTCCTTCAGAGCC	0.478000													24	47					0	0	0.002780	0	0
CARD11	84433	broad.mit.edu	37	7	2979560	2979560	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:2979560G>A	ENST00000396946.4	-	6	1090	c.687C>T	c.(685-687)atC>atT	p.I229I		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	229					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TTAGCTGATCGATCTGAAATA	0.498000			Mis		DLBCL								23	69					0	0	0.002780	0	0
MAP2	4133	broad.mit.edu	37	2	210561449	210561449	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:210561449G>A	ENST00000360351.4	+	8	4870	c.4364G>A	c.(4363-4365)aGa>aAa	p.R1455K	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.R1451K|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000475600.1_3'UTR	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1455	Calmodulin-binding (Potential).				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	ACAGTCTCCAGAGATGAAGTG	0.343000													10	28					0	0	0.008291	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48605530	48605530	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:48605530G>A	ENST00000323776.5	+	16	2597	c.2435G>A	c.(2434-2436)cGa>cAa	p.R812Q	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.R775Q	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein	775					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			CAGCTGTGGCGAGATGTGATT	0.532000													12	17					0	0	0.001368	0	0
SRGAP1	57522	broad.mit.edu	37	12	64472794	64472794	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:64472794C>T	ENST00000355086.3	+	9	1745	c.1221C>T	c.(1219-1221)tcC>tcT	p.S407S	RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000543397.1_Silent_p.S367S|SRGAP1_ENST00000357825.3_Silent_p.S407S	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	407					axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		ACAGTCGTTCCACAGAATCAG	0.473000													16	32					0	0	0.003163	0	0
DDX60L	91351	broad.mit.edu	37	4	169292858	169292858	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:169292858C>T	ENST00000511577.1	-	36	5080	c.4833G>A	c.(4831-4833)tgG>tgA	p.W1611*	DDX60L_ENST00000260184.7_Nonsense_Mutation_p.W1611*			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1611							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TATCTAATTTCCATGGCCACA	0.408000													11	15					0	0	0.002450	0	0
RHOXF1	158800	broad.mit.edu	37	X	119246802	119246802	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:119246802C>T	ENST00000217999.2	-	2	495	c.421G>A	c.(421-423)Ggt>Agt	p.G141S	RP4-755D9.1_ENST00000553843.1_RNA	NM_139282.1	NP_644811.1	Q8NHV9	RHXF1_HUMAN	Rhox homeobox family, member 1	141					gamete generation|multicellular organismal development|steroid hormone receptor signaling pathway	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10						TCAGTCACACCTAAGTTTTCG	0.403000													54	149					0	0	0.003610	0	0
TRAPPC6A	79090	broad.mit.edu	37	19	45668431	45668431	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:45668431C>T	ENST00000006275.4	-	2	166	c.148G>A	c.(148-150)Gtc>Atc	p.V50I	TRAPPC6A_ENST00000588062.1_Intron|TRAPPC6A_ENST00000585934.1_Missense_Mutation_p.V36I|TRAPPC6A_ENST00000592647.1_Intron	NM_024108.1	NP_077013.1	O75865	TPC6A_HUMAN	trafficking protein particle complex 6A	36					vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus	guanylate cyclase activity|heme binding			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	8		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00872)|GBM - Glioblastoma multiforme(486;0.233)		CCCTCCAGGACCGACAGGCTC	0.701000													3	1					0	0	0.009096	0	0
FA2H	79152	broad.mit.edu	37	16	74752907	74752907	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:74752907G>A	ENST00000219368.3	-	5	834	c.765C>T	c.(763-765)gtC>gtT	p.V255V	FA2H_ENST00000544337.1_Silent_p.V42V	NM_024306.4	NP_077282.3	Q7L5A8	FA2H_HUMAN	fatty acid 2-hydroxylase	255					cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport	endoplasmic reticulum membrane|integral to membrane|microsome	heme binding|oxidoreductase activity			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						GGCCGTGCATGACGAAGTGCA	0.637000													16	45					0	0	0.004990	0	0
CSGALNACT2	55454	broad.mit.edu	37	10	43650774	43650774	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:43650774C>T	ENST00000374466.3	+	2	512	c.177C>T	c.(175-177)gcC>gcT	p.A59A	CSGALNACT2_ENST00000374464.1_Silent_p.A59A	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	59					chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ATTATCAAGCCCTCCTACAGG	0.413000													14	26					0	0	0.003163	0	0
CCDC83	220047	broad.mit.edu	37	11	85606383	85606383	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:85606383G>A	ENST00000280245.4	+	6	1071	c.559G>A	c.(559-561)Gaa>Aaa	p.E187K	CCDC83_ENST00000529676.2_3'UTR|CCDC83_ENST00000342404.3_Missense_Mutation_p.E187K|CCDC83_ENST00000376067.1_Missense_Mutation_p.E88K	NM_173556.3	NP_775827.2	Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	187										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				AATAATCAAGGAAACTTTGTT	0.274000													14	16					0	0	0.004007	0	0
TAAR6	319100	broad.mit.edu	37	6	132891816	132891816	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:132891816C>T	ENST00000275198.1	+	1	356	c.356C>T	c.(355-357)tCt>tTt	p.S119F		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	119						plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		TGTTACTCTTCTCTCTTTCAC	0.483000													45	92					0	0	0.002852	0	0
RHBDL1	9028	broad.mit.edu	37	16	727794	727794	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:727794G>A	ENST00000219551.2	+	7	1086	c.1059G>A	c.(1057-1059)gtG>gtA	p.V353V	RHBDL1_ENST00000352681.3_Silent_p.V288V			O75783	RHBL1_HUMAN	rhomboid, veinlet-like 1 (Drosophila)	353					proteolysis|signal transduction	integral to plasma membrane|membrane fraction	calcium ion binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|lung(4)|urinary_tract(3)	9		Hepatocellular(780;0.0218)				GCTCCGAGGTGGGCCGGGCCG	0.751000													3	9					0	0	0.004672	0	0
DMRT3	58524	broad.mit.edu	37	9	990125	990125	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:990125C>T	ENST00000190165.2	+	2	577	c.539C>T	c.(538-540)tCc>tTc	p.S180F		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	180					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		CAGAGGAGTTCCCCAGATGTG	0.522000													26	28					0	0	0.005443	0	0
ANGPT1	284	broad.mit.edu	37	8	108315580	108315580	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:108315580C>T	ENST00000520734.1	-	4	509	c.224G>A	c.(223-225)gGa>gAa	p.G75E	ANGPT1_ENST00000520052.1_Missense_Mutation_p.G74E|ANGPT1_ENST00000518386.1_Intron			Q15389	ANGP1_HUMAN	angiopoietin 1	275					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding	p.G275E(1)		NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			CTCTCTTTTTCCTCCCTTTAG	0.313000													17	48					0	0	0.001882	0	0
PARP15	165631	broad.mit.edu	37	3	122353914	122353914	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:122353914G>A	ENST00000483793.1	+	8	1075	c.1035G>A	c.(1033-1035)aaG>aaA	p.K345K	PARP15_ENST00000493645.1_Silent_p.K237K|PARP15_ENST00000464300.2_Silent_p.K540K|PARP15_ENST00000465304.1_3'UTR|PARP15_ENST00000310366.4_Silent_p.K306K			Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	518	Macro 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		ACCAGGTAAAGAAAAGGCAAA	0.423000													7	35					0	0	0.003080	0	0
CMYA5	202333	broad.mit.edu	37	5	79034731	79034731	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:79034731G>A	ENST00000446378.2	+	2	10174	c.10143G>A	c.(10141-10143)gaG>gaA	p.E3381E		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3381						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CCTTCCCGGAGGAAGAATTTG	0.478000													30	65					0	0	0.008361	0	0
ZBTB22	9278	broad.mit.edu	37	6	33283839	33283839	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:33283839G>A	ENST00000431845.2	-	2	1006	c.855C>T	c.(853-855)acC>acT	p.T285T	ZBTB22_ENST00000418724.1_Silent_p.T285T	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						GGGGTGTGTAGGTGGGTCTCC	0.607000													53	20					0	0	0.003610	0	0
GRB14	2888	broad.mit.edu	37	2	165404212	165404212	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:165404212G>A	ENST00000263915.3	-	3	977	c.439C>T	c.(439-441)Cac>Tac	p.H147Y	GRB14_ENST00000543549.1_Missense_Mutation_p.H60Y	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	147	Ras-associating.				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						GTCCAGCTGTGGTCATCAATG	0.448000													7	23					0	0	0.004482	0	0
FAM19A1	407738	broad.mit.edu	37	3	68466547	68466547	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:68466547G>A	ENST00000478136.1	+	3	726	c.236G>A	c.(235-237)aGa>aAa	p.R79K	FAM19A1_ENST00000496687.1_Missense_Mutation_p.R79K|FAM19A1_ENST00000491017.1_3'UTR	NM_213609.3	NP_998774.2	Q7Z5A9	F19A1_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A1	79						endoplasmic reticulum|extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		GGAACAACAAGAAACCGGCCT	0.418000													16	65					0	0	0.006122	0	0
MTM1	4534	broad.mit.edu	37	X	149839967	149839967	+	Missense_Mutation	SNP	C	C	T	rs143813478		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:149839967C>T	ENST00000370396.2	+	15	1765	c.1711C>T	c.(1711-1713)Ctt>Ttt	p.L571F	MTM1_ENST00000543350.1_Missense_Mutation_p.L456F|MTM1_ENST00000413012.2_Missense_Mutation_p.L534F|MTM1_ENST00000542741.1_3'UTR|MTM1_ENST00000306167.7_3'UTR	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	571					endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					CATAAAGCGGCTTGAGGAACT	0.507000													28	64					0	0	0.006320	0	0
MAP4K1	11184	broad.mit.edu	37	19	39108533	39108533	+	Translation_Start_Site	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:39108533C>T	ENST00000591517.1	-	1	31	c.3G>A	c.(1-3)atG>atA	p.M1I	MAP4K1_ENST00000589130.1_Intron|MAP4K1_ENST00000586296.1_Start_Codon_SNP_p.M1I|MAP4K1_ENST00000396857.2_Start_Codon_SNP_p.M1I	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	1					activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCACGACGTCCATCCCTGGGG	0.652000													26	48					0	0	0.003330	0	0
TRAF3IP3	80342	broad.mit.edu	37	1	209933640	209933640	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:209933640G>A	ENST00000367024.1	+	3	772	c.256G>A	c.(256-258)Gag>Aag	p.E86K	TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.E86K|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.E86K|TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.E86K|TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.E86K			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	86						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)		CCAGGCCAGGGAGCAAGGGCC	0.602000													14	20					0	0	0.002450	0	0
FRMPD4	9758	broad.mit.edu	37	X	12734932	12734932	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:12734932C>T	ENST00000380682.1	+	15	2860	c.2354C>T	c.(2353-2355)tCc>tTc	p.S785F		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	785					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GACCTCACATCCCTGCCCCCT	0.572000													47	122					0	0	0.003610	0	0
ZNF716	441234	broad.mit.edu	37	7	57529035	57529035	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:57529035C>T	ENST00000420713.1	+	4	980	c.868C>T	c.(868-870)Cat>Tat	p.H290Y		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						CAAGAGAATTCATACTGGAGA	0.408000													5	16					0	0	0.000602	0	0
ZNF530	348327	broad.mit.edu	37	19	58117086	58117086	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:58117086C>T	ENST00000332854.6	+	3	413	c.193C>T	c.(193-195)Cct>Tct	p.P65S	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	65	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGAGGGGACGCCTTCTGCAGA	0.468000													14	60					0	0	0.001855	0	0
KIF2B	84643	broad.mit.edu	37	17	51900463	51900463	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:51900463C>T	ENST00000268919.4	+	1	225	c.69C>T	c.(67-69)ttC>ttT	p.F23F		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	23					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AGCCACATTTCGGAGACATCC	0.562000													15	38					0	0	0.003163	0	0
DCAF6	55827	broad.mit.edu	37	1	167992241	167992241	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:167992241T>G	ENST00000367840.3	+	12	1659	c.1565T>G	c.(1564-1566)gTg>gGg	p.V522G	DCAF6_ENST00000312263.6_Intron|DCAF6_ENST00000367843.3_Missense_Mutation_p.V465G|DCAF6_ENST00000432587.2_Missense_Mutation_p.V491G	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	506					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						CCTTCTTCTGTGGTTAACAAA	0.423000													8	25					0	0	0.004482	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883860	228883860	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:228883860G>A	ENST00000392056.3	-	7	1756	c.1710C>T	c.(1708-1710)gtC>gtT	p.V570V	SPHKAP_ENST00000344657.5_Silent_p.V570V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	570						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CCAGACCACAGACAGCCACGG	0.552000													23	70					0	0	0.003330	0	0
CXorf22	170063	broad.mit.edu	37	X	35993308	35993308	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:35993308A>T	ENST00000297866.5	+	14	2365	c.2299A>T	c.(2299-2301)Aat>Tat	p.N767Y		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	767										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						GAACTCTCCAAATACTCATCT	0.313000													23	65					0	0	0.003330	0	0
RGS7	6000	broad.mit.edu	37	1	241099902	241099902	+	Nonsense_Mutation	SNP	G	G	A	rs138071681		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:241099902G>A	ENST00000366565.1	-	5	712	c.331C>T	c.(331-333)Caa>Taa	p.Q111*	RGS7_ENST00000366564.1_Nonsense_Mutation_p.Q111*|RGS7_ENST00000348120.2_Intron|RGS7_ENST00000446183.2_Nonsense_Mutation_p.Q27*|RGS7_ENST00000331110.7_Nonsense_Mutation_p.Q85*|RGS7_ENST00000407727.1_Nonsense_Mutation_p.Q111*|RGS7_ENST00000401882.1_Intron|RGS7_ENST00000366563.1_Nonsense_Mutation_p.Q111*|RGS7_ENST00000366562.4_Nonsense_Mutation_p.Q111*	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	111	DEP.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			AAACTTACTTGAAACCGGTAA	0.393000													28	61					0	0	0.002096	0	0
CYP4F12	66002	broad.mit.edu	37	19	15806853	15806853	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:15806853T>A	ENST00000550308.1	+	10	1603	c.1223T>A	c.(1222-1224)cTc>cAc	p.L408H	CYP4F12_ENST00000324632.9_Missense_Mutation_p.L408H	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					GACATTGTTCTCCCAGATGGC	0.612000													34	57					0	0	0.004878	0	0
ZIC4	84107	broad.mit.edu	37	3	147113820	147113820	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:147113820G>A	ENST00000383075.3	-	3	1019	c.507C>T	c.(505-507)gcC>gcT	p.A169A	ZIC4_ENST00000473123.1_Silent_p.A169A|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000525172.2_Silent_p.A219A|ZIC4_ENST00000425731.3_Silent_p.A207A|ZIC4_ENST00000484399.1_Silent_p.A169A	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	169						nucleus	DNA binding|zinc ion binding	p.A169A(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						AAATGTGGTTGGCCTGTTCCG	0.602000													43	203					0	0	0.002852	0	0
ABLIM2	84448	broad.mit.edu	37	4	8009775	8009775	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:8009775G>A	ENST00000428004.2	-	14	1549	c.1407C>T	c.(1405-1407)ttC>ttT	p.F469F	ABLIM2_ENST00000447017.2_Intron|ABLIM2_ENST00000341937.5_Intron|ABLIM2_ENST00000546334.1_Intron|ABLIM2_ENST00000407564.3_Intron|ABLIM2_ENST00000361737.5_Intron|ABLIM2_ENST00000318888.4_Intron|ABLIM2_ENST00000296372.8_Intron|ABLIM2_ENST00000545242.1_Intron|ABLIM2_ENST00000514025.1_Intron|ABLIM2_ENST00000361581.5_Intron|ABLIM2_ENST00000505872.1_Intron	NM_001130088.1	NP_001123560.1	Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	0					axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						TTCTTCAAAAGAACCACTCAC	0.552000													50	118					0	0	0.003610	0	0
WDR72	256764	broad.mit.edu	37	15	54003658	54003658	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:54003658A>T	ENST00000396328.1	-	8	971	c.732T>A	c.(730-732)ttT>ttA	p.F244L	WDR72_ENST00000559418.1_Missense_Mutation_p.F244L|WDR72_ENST00000360509.5_Missense_Mutation_p.F244L|WDR72_ENST00000557913.1_Missense_Mutation_p.F243L	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	244										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		GCAGAAGGGAAAAATCACAAT	0.358000													10	31					0	0	0.008291	0	0
GPR156	165829	broad.mit.edu	37	3	119887107	119887107	+	Missense_Mutation	SNP	G	G	A	rs113424982		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:119887107G>A	ENST00000464295.1	-	10	1662	c.1217C>T	c.(1216-1218)cCg>cTg	p.P406L	GPR156_ENST00000461057.1_Missense_Mutation_p.P402L|GPR156_ENST00000315843.3_Missense_Mutation_p.P406L			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	406						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		GTCCTTGTTCGGGGAAGAGGC	0.587000													24	21					0	0	0.005443	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33751564	33751564	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:33751564G>C	ENST00000504830.1	-	3	914	c.579C>G	c.(577-579)atC>atG	p.I193M	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000515401.1_Missense_Mutation_p.I193M|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.I193M	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	193					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCCTGTAAACGATGTGCGGGT	0.458000										HNSCC(64;0.19)			24	85					0	0	0.002780	0	0
LPHN3	23284	broad.mit.edu	37	4	62363066	62363066	+	Splice_Site	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:62363066G>A	ENST00000512091.1	+	3	802	c.55_splice	c.e3+1	p.A19_splice	LPHN3_ENST00000506720.1_Splice_Site_p.G19_splice|LPHN3_ENST00000514591.1_Splice_Site_p.A19_splice|LPHN3_ENST00000545650.1_Splice_Site_p.A19_splice|LPHN3_ENST00000514157.1_Splice_Site_p.A19_splice|LPHN3_ENST00000514996.1_Splice_Site_p.A19_splice|LPHN3_ENST00000504896.1_Splice_Site_p.A19_splice|LPHN3_ENST00000506746.1_Splice_Site_p.G19_splice|LPHN3_ENST00000508693.1_Splice_Site_p.G19_splice|LPHN3_ENST00000506700.1_Splice_Site_p.A19_splice|LPHN3_ENST00000507625.1_Splice_Site_p.G19_splice|LPHN3_ENST00000507164.1_Splice_Site_p.G19_splice|LPHN3_ENST00000511324.1_Splice_Site_p.G19_splice|LPHN3_ENST00000509896.1_Splice_Site_p.G19_splice|LPHN3_ENST00000508946.1_Splice_Site_p.A19_splice			Q9HAR2	LPHN3_HUMAN	latrophilin 3	19					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						AATAATTCATGGTAAGATTTT	0.378000													6	21					0	0	0.003080	0	0
NLRP11	204801	broad.mit.edu	37	19	56300293	56300293	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:56300293A>G	ENST00000443188.1	-	11	3445	c.2735T>C	c.(2734-2736)gTt>gCt	p.V912A	NLRP11_ENST00000592953.1_Missense_Mutation_p.V813A|NLRP11_ENST00000589824.2_Missense_Mutation_p.V858A|NLRP11_ENST00000589093.1_Missense_Mutation_p.V912A|NLRP11_ENST00000360133.3_Missense_Mutation_p.V858A	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	912							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		GGTGGTAAGAACAGAGGCAAG	0.453000													13	45					0	0	0.001855	0	0
SPAM1	6677	broad.mit.edu	37	7	123593837	123593837	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:123593837C>T	ENST00000340011.5	+	3	570	c.213C>T	c.(211-213)agC>agT	p.S71S	SPAM1_ENST00000439500.1_Silent_p.S71S|SPAM1_ENST00000223028.7_Silent_p.S71S|SPAM1_ENST00000460182.1_Silent_p.S71S|SPAM1_ENST00000402183.2_Silent_p.S71S	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	71					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	TAGATATGAGCCTCTTCTCTT	0.433000													10	37					0	0	0.006214	0	0
GAD2	2572	broad.mit.edu	37	10	26575315	26575315	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:26575315C>T	ENST00000376261.3	+	13	1781	c.1278C>T	c.(1276-1278)ctC>ctT	p.L426L	GAD2_ENST00000259271.3_Silent_p.L426L	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	426					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	CCTCCTACCTCTTTCAGCAAG	0.398000													23	45					0	0	0.003954	0	0
KRT14	3861	broad.mit.edu	37	17	39742796	39742796	+	Silent	SNP	A	A	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:39742796A>C	ENST00000167586.6	-	1	377	c.291T>G	c.(289-291)ggT>ggG	p.G97G		NM_000526.4	NP_000517.2	P02533	K1C14_HUMAN	keratin 14	97	Head.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				caaagccaccacccaagccag	0.622000													9	59					0	0	0.005443	0	0
SERPINB11	89778	broad.mit.edu	37	18	61390289	61390289	+	RNA	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:61390289G>A	ENST00000544088.1	+	0	897				SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000382749.5_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				TAACATGATGGAAAGAGAAGT	0.418000													4	15					0	0	0.009096	0	0
NOTCH3	4854	broad.mit.edu	37	19	15289974	15289974	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:15289974G>A	ENST00000263388.2	-	22	3655	c.3580C>T	c.(3580-3582)Ccc>Tcc	p.P1194S		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1194	EGF-like 30; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TATCCTGGGGGACAGGTGCAG	0.662000													8	17					0	0	0.008291	0	0
CYP4F2	8529	broad.mit.edu	37	19	16003245	16003245	+	Splice_Site	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:16003245C>T	ENST00000221700.5	-	5	494	c.397_splice	c.e5-1	p.G133_splice	CYP4F2_ENST00000592328.1_Splice_Site_p.G133_splice|CYP4F2_ENST00000011989.7_5'UTR	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	133					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GGAGCCCATCCCCTAGCAGGG	0.592000													34	61					0	0	0.002836	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136898	40136898	+	Nonsense_Mutation	SNP	C	C	T	rs151083424		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:40136898C>T	ENST00000278198.2	-	2	2908	c.945G>A	c.(943-945)tgG>tgA	p.W315*	LRRC4C_ENST00000530763.1_Nonsense_Mutation_p.W315*|LRRC4C_ENST00000528697.1_Nonsense_Mutation_p.W315*|LRRC4C_ENST00000527150.1_Nonsense_Mutation_p.W315*			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	315	LRRCT.				regulation of axonogenesis	integral to membrane	protein binding	p.W315*(1)		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)				TGTCTTTTATCCACCAGCTGA	0.493000													20	14					0	0	0.008871	0	0
MST1L	11223	broad.mit.edu	37	1	17085053	17085053	+	RNA	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:17085053C>T	ENST00000455405.2	-	0	135																											GATCCACCCTCTTGCCACACT	0.602000													4	42					0	0	0.000602	0	0
ZNF385B	151126	broad.mit.edu	37	2	180634320	180634320	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:180634320C>T	ENST00000410066.1	-	3	766	c.163G>A	c.(163-165)Ggc>Agc	p.G55S		NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	55						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			TGGGATTTGCCGTTGGAATGC	0.567000													22	50					0	0	0.002299	0	0
KRT38	8687	broad.mit.edu	37	17	39597008	39597008	+	Missense_Mutation	SNP	G	G	A	rs148366219		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:39597008G>A	ENST00000246646.3	-	1	165	c.166C>T	c.(166-168)Cgt>Tgt	p.R56C		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	56	Head.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				GACCCCACACGGACTCGGTTG	0.632000													18	53					0	0	0.007413	0	0
ALK	238	broad.mit.edu	37	2	29498005	29498005	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:29498005C>T	ENST00000389048.3	-	11	2907	c.2001G>A	c.(1999-2001)ggG>ggA	p.G667G	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	667					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GTGAATTTTCCCCGGGTTTCA	0.458000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				22	49					0	0	0.002299	0	0
OBSCN	84033	broad.mit.edu	37	1	228451914	228451914	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:228451914C>T	ENST00000570156.2	+	18	5309	c.5235C>T	c.(5233-5235)gcC>gcT	p.A1745A	OBSCN_ENST00000359599.6_Silent_p.A217A|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.A1561A|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Silent_p.A1561A	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	733	Fibronectin type-III 2.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGGCCCAGGCCCAGACAGAGG	0.657000													38	67					0	0	0.006999	0	0
APOH	350	broad.mit.edu	37	17	64225497	64225497	+	Translation_Start_Site	SNP	T	T	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:64225497T>C	ENST00000205948.6	-	1	38	c.1A>G	c.(1-3)Atg>Gtg	p.M1V		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	1					blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			GGAGAAATCATTGTGGATGAG	0.378000													6	12					0	0	0.001984	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23815460	23815460	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:23815460T>A	ENST00000264867.2	-	8	1765	c.1646A>T	c.(1645-1647)gAt>gTt	p.D549V	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	549					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TGACACAGAATCTCTACATGG	0.448000													19	37					0	0	0.008871	0	0
MPL	4352	broad.mit.edu	37	1	43805033	43805033	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:43805033C>T	ENST00000372470.3	+	4	525	c.483C>T	c.(481-483)atC>atT	p.I161I	MPL_ENST00000413998.2_Silent_p.I161I	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	myeloproliferative leukemia virus oncogene	161	Fibronectin type-III 1.				cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTCCAGAAATCAGTGATTTCC	0.592000			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia						15	36					0	0	0.003163	0	0
TF	7018	broad.mit.edu	37	3	133478170	133478170	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:133478170C>T	ENST00000402696.3	+	9	1685	c.1200C>T	c.(1198-1200)atC>atT	p.I400I	TF_ENST00000264998.3_Silent_p.I273I	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN	transferrin	400	Transferrin-like 2.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	TCGCCAAGATCATGGTATGTC	0.532000													47	55					0	0	0.003610	0	0
TNK2	10188	broad.mit.edu	37	3	195605354	195605354	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:195605354C>T	ENST00000333602.6	-	8	1741	c.1124G>A	c.(1123-1125)aGa>aAa	p.R375K	TNK2_ENST00000392400.1_Missense_Mutation_p.R375K|TNK2_ENST00000316664.3_Missense_Mutation_p.R375K|TNK2_ENST00000381916.2_Missense_Mutation_p.R438K|TNK2_ENST00000428187.1_Missense_Mutation_p.R407K	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	375	Protein kinase.			Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	AAACGTGGGTCTGTCCTCTGG	0.642000													60	76					0	0	0.003610	0	0
GJB5	2709	broad.mit.edu	37	1	35223641	35223641	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:35223641C>T	ENST00000338513.1	+	2	883	c.710C>T	c.(709-711)tCc>tTc	p.S237F		NM_005268.3	NP_005259.1	O95377	CXB5_HUMAN	gap junction protein, beta 5, 31.1kDa	237					cell communication|epidermis development	connexon complex|integral to membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				ACCACCTCTTCCTGCAAACAA	0.557000													19	37					0	0	0.010504	0	0
DCAF8	50717	broad.mit.edu	37	1	160194883	160194883	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:160194883G>A	ENST00000368073.3	-	9	1604	c.1170C>T	c.(1168-1170)atC>atT	p.I390I	DCAF8_ENST00000556710.1_Silent_p.I544I|DCAF8_ENST00000326837.2_Silent_p.I390I|DCAF8_ENST00000368074.1_Silent_p.I390I|DCAF8_ENST00000461888.1_Intron			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	390						CUL4 RING ubiquitin ligase complex	protein binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						CAAGACAGGTGATGTTTGCTT	0.547000													15	76					0	0	0.004990	0	0
OR4K14	122740	broad.mit.edu	37	14	20482700	20482700	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:20482700G>A	ENST00000305045.2	-	1	652	c.653C>T	c.(652-654)tCc>tTc	p.S218F		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S218F(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		CACGGTGTAGGAGATCAGGAG	0.498000													4	26					0	0	0.009096	0	0
DUSP27	92235	broad.mit.edu	37	1	167097243	167097243	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:167097243A>G	ENST00000361200.2	+	6	3041	c.2875A>G	c.(2875-2877)Aga>Gga	p.R959G	DUSP27_ENST00000443333.1_Missense_Mutation_p.R959G|DUSP27_ENST00000271385.5_Missense_Mutation_p.R959G|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	959	Ser-rich.				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						TGGAAGTTCCAGAGGGAAGTA	0.493000													25	23					0	0	0.003954	0	0
GPR112	139378	broad.mit.edu	37	X	135427097	135427097	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:135427097C>T	ENST00000394143.1	+	6	1523	c.1232C>T	c.(1231-1233)tCt>tTt	p.S411F	GPR112_ENST00000287534.4_Missense_Mutation_p.S348F|GPR112_ENST00000412101.1_Missense_Mutation_p.S206F|GPR112_ENST00000394141.1_Missense_Mutation_p.S206F|GPR112_ENST00000370652.1_Missense_Mutation_p.S411F	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	411					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GAGTCAACATCTATGTCTACA	0.403000													40	90					0	0	0.002852	0	0
SLC25A47	283600	broad.mit.edu	37	14	100795794	100795794	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:100795794G>A	ENST00000361529.3	+	6	817	c.739G>A	c.(739-741)Gca>Aca	p.A247T	SLC25A47_ENST00000557052.1_Missense_Mutation_p.A101T	NM_207117.2	NP_997000.2	Q6Q0C1	S2547_HUMAN	solute carrier family 25, member 47	247					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						GAGACTGCAGGCAGACGGGCA	0.667000													25	65					0	0	0.005443	0	0
EP300	2033	broad.mit.edu	37	22	41513566	41513566	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr22:41513566C>T	ENST00000263253.7	+	2	1689	c.470C>T	c.(469-471)cCa>cTa	p.P157L		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	157					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						ATGAACAGTCCAGTAAATCAG	0.507000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				12	32					0	0	0.001368	0	0
PDCD4	27250	broad.mit.edu	37	10	112641009	112641009	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:112641009A>G	ENST00000393104.2	+	4	389	c.29A>G	c.(28-30)gAc>gGc	p.D10G	PDCD4_ENST00000280154.7_Missense_Mutation_p.D21G	NM_145341.3	NP_663314.1	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)	21					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)		AACTTAAGTGACTCTCTCTTT	0.313000													27	74					0	0	0.005443	0	0
ZNF841	284371	broad.mit.edu	37	19	52569316	52569316	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:52569316T>A	ENST00000389534.4	-	7	2278	c.1819A>T	c.(1819-1821)Att>Ttt	p.I607F	ZNF841_ENST00000426391.2_Missense_Mutation_p.I491F|ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000594295.1_Missense_Mutation_p.I607F|ZNF841_ENST00000359973.2_Intron	NM_001136499.1	NP_001129971.1	Q6ZN19	ZN841_HUMAN	zinc finger protein 841	491					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						CCACTGTCAATGAAGACCTTG	0.438000													37	78					0	0	0.006230	0	0
POMGNT2	84892	broad.mit.edu	37	3	43122913	43122913	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:43122913G>A	ENST00000344697.2	-	2	356	c.11C>T	c.(10-12)tCg>tTg	p.S4L	GTDC2_ENST00000441964.1_Missense_Mutation_p.S4L	NM_032806.4	NP_116195.2												p.S4L(1)									GAACACCGCCGAGAGGTGCAT	0.637000													4	6					0	0	0.009096	0	0
SCN10A	6336	broad.mit.edu	37	3	38791583	38791583	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:38791583G>A	ENST00000449082.2	-	12	1847	c.1848C>T	c.(1846-1848)atC>atT	p.I616I		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	616					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CGGAGGTTATGATACTGACAA	0.463000													11	38					0	0	0.002450	0	0
FER1L6	654463	broad.mit.edu	37	8	125131160	125131160	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:125131160G>A	ENST00000522917.1	+	40	5571	c.5365G>A	c.(5365-5367)Gag>Aag	p.E1789K	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.E1789K	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1789						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AGCCCGAAAGGAGCCAGAGCC	0.502000													8	32					0	0	0.003080	0	0
GRIK2	2898	broad.mit.edu	37	6	102516257	102516257	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:102516257G>A	ENST00000421544.1	+	16	3088	c.2598G>A	c.(2596-2598)agG>agA	p.R866R	GRIK2_ENST00000369134.4_Silent_p.R817R|GRIK2_ENST00000369137.3_Silent_p.R790R|GRIK2_ENST00000369138.1_3'UTR|GRIK2_ENST00000413795.1_3'UTR	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	866					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	AAGAATTGAGGATGTCCCTGA	0.388000													14	23					0	0	0.004990	0	0
OR5H2	79310	broad.mit.edu	37	3	98002605	98002605	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:98002605C>T	ENST00000355273.2	+	1	874	c.874C>T	c.(874-876)Ccc>Tcc	p.P292S	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						TTTGCTAAATCCCATTATCTA	0.328000													7	45					0	0	0.003080	0	0
CCDC3	83643	broad.mit.edu	37	10	12940554	12940554	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:12940554C>T	ENST00000378839.1	-	7	1252	c.300G>A	c.(298-300)aaG>aaA	p.K100K	CCDC3_ENST00000378825.3_Silent_p.K225K			Q9BQI4	CCDC3_HUMAN	coiled-coil domain containing 3	225						endoplasmic reticulum|extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	11		Ovarian(717;0.0822)	BRCA - Breast invasive adenocarcinoma(52;0.163)			GCAAGGACCTCTTGACCTTCT	0.622000													22	91					0	0	0.009535	0	0
THSD7B	80731	broad.mit.edu	37	2	138208556	138208556	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:138208556G>A	ENST00000409968.1	+	15	3279	c.3101G>A	c.(3100-3102)gGa>gAa	p.G1034E	THSD7B_ENST00000272643.3_Missense_Mutation_p.G1034E|THSD7B_ENST00000413152.2_Missense_Mutation_p.G1003E|THSD7B_ENST00000543459.1_Intron					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CCTTACAATGGAGGACGACCA	0.393000													4	7					0	0	0.009096	0	0
MGAM	8972	broad.mit.edu	37	7	141794601	141794601	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:141794601C>T	ENST00000475668.2	+	63	7450	c.7396C>T	c.(7396-7398)Cgc>Tgc	p.R2466C	MGAM_ENST00000549489.2_Missense_Mutation_p.R1570C			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1570					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GATGTGTGTTCGCTGGATGCA	0.483000													13	62					0	0	0.004007	0	0
KIAA1804	84451	broad.mit.edu	37	1	233489572	233489572	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:233489572G>A	ENST00000366624.3	+	3	1267	c.1006G>A	c.(1006-1008)Gaa>Aaa	p.E336K	MLK4_ENST00000366623.3_Missense_Mutation_p.E336K	NM_032435.2	NP_115811.2												p.E336K(1)									GCTGCTGTGGGAACTGCTCAC	0.488000													57	47					0	0	0.003610	0	0
NTNG1	22854	broad.mit.edu	37	1	107691441	107691441	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:107691441C>T	ENST00000370067.1	+	2	853	c.226C>T	c.(226-228)Cct>Tct	p.P76S	NTNG1_ENST00000370061.3_Missense_Mutation_p.P76S|NTNG1_ENST00000370065.1_Missense_Mutation_p.P76S|NTNG1_ENST00000370066.1_Missense_Mutation_p.P76S|NTNG1_ENST00000370068.1_Missense_Mutation_p.P76S|NTNG1_ENST00000370070.2_Missense_Mutation_p.P76S|NTNG1_ENST00000370071.2_Missense_Mutation_p.P76S|NTNG1_ENST00000370073.2_Missense_Mutation_p.P76S|NTNG1_ENST00000370072.3_Missense_Mutation_p.P76S|NTNG1_ENST00000370074.4_Missense_Mutation_p.P76S|NTNG1_ENST00000542803.1_Missense_Mutation_p.P76S			Q9Y2I2	NTNG1_HUMAN	netrin G1	76	Laminin N-terminal.				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)		TGGAGACCCTCCTGAGACGTT	0.438000													22	59					0	0	0.002780	0	0
BCOR	54880	broad.mit.edu	37	X	39932229	39932229	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:39932229G>A	ENST00000342274.4	-	4	2732	c.2370C>T	c.(2368-2370)aaC>aaT	p.N790N	BCOR_ENST00000378444.4_Silent_p.N790N|BCOR_ENST00000397354.3_Silent_p.N790N|BCOR_ENST00000378455.4_Silent_p.N790N	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	790					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CTTGATTCCAGTTGGGGTTCG	0.483000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						84	208					0	0	0.003610	0	0
A1CF	29974	broad.mit.edu	37	10	52580326	52580326	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:52580326C>T	ENST00000395489.2	-	10	1228	c.832G>A	c.(832-834)Gct>Act	p.A278T	A1CF_ENST00000374001.1_Missense_Mutation_p.A285T|A1CF_ENST00000373993.1_Missense_Mutation_p.A285T|A1CF_ENST00000282641.2_Missense_Mutation_p.A285T|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000395495.1_Missense_Mutation_p.A230T|A1CF_ENST00000373997.3_Missense_Mutation_p.A285T|A1CF_ENST00000373995.3_Missense_Mutation_p.A293T	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	285	RRM 3.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						CCATTTAAAGCTTTCATAGCC	0.403000													7	30					0	0	0.004482	0	0
BST1	683	broad.mit.edu	37	4	15717353	15717353	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:15717353C>T	ENST00000382346.3	+	7	729	c.680C>T	c.(679-681)cCa>cTa	p.P227L	BST1_ENST00000265016.4_Missense_Mutation_p.P212L			Q10588	BST1_HUMAN	bone marrow stromal cell antigen 1	212					humoral immune response|multicellular organismal development	anchored to membrane|extrinsic to membrane|plasma membrane	binding|NAD+ nucleosidase activity			central_nervous_system(1)|large_intestine(1)|lung(2)|stomach(3)|urinary_tract(1)	8						TATGAAATTCCAAACCTCCAG	0.333000													11	26					0	0	0.008291	0	0
PLCE1	51196	broad.mit.edu	37	10	96030337	96030337	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:96030337G>A	ENST00000260766.3	+	18	5118	c.4484G>A	c.(4483-4485)cGa>cAa	p.R1495Q	PLCE1_ENST00000371375.1_Missense_Mutation_p.R1187Q|PLCE1_ENST00000371385.3_Missense_Mutation_p.R1187Q|PLCE1_ENST00000371380.2_Missense_Mutation_p.R1495Q	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1495	PI-PLC X-box.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	p.R1495Q(3)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CCTCAGCAACGAAAAATGGCA	0.418000													22	52					0	0	0.001882	0	0
BAGE2	85319	broad.mit.edu	37	21	11038742	11038742	+	RNA	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr21:11038742G>A	ENST00000470054.1	-	0	1461									B melanoma antigen family, member 2															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)		TTGGACCGAGGTCTACCAGGA	0.378000													17	168					0	0	0.007413	0	0
DSG1	1828	broad.mit.edu	37	18	28914104	28914104	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:28914104G>A	ENST00000257192.4	+	8	1156	c.944G>A	c.(943-945)gGa>gAa	p.G315E		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	315	Cadherin 3.				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)			GGAAATGAAGGAAATTGGTTT	0.299000													20	52					0	0	0.008871	0	0
UGT2B17	7367	broad.mit.edu	37	4	69433737	69433737	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:69433737G>A	ENST00000317746.2	-	1	508	c.466C>T	c.(466-468)Ccc>Tcc	p.P156S		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	156					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						TCACCACAGGGATTAACGGCA	0.418000													77	44					0	0	0.003610	0	0
OR14K1	343170	broad.mit.edu	37	1	247902395	247902395	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:247902395G>A	ENST00000283225.2	+	1	479	c.479G>A	c.(478-480)gGa>gAa	p.G160E	RP11-634B7.4_ENST00000449298.1_RNA					olfactory receptor, family 14, subfamily K, member 1											NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						TACACAGCTGGAACATTCTCT	0.502000													51	140					0	0	0.003610	0	0
TGFBR2	7048	broad.mit.edu	37	3	30713629	30713629	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:30713629G>A	ENST00000295754.5	+	4	1336	c.954G>A	c.(952-954)ggG>ggA	p.G318G	TGFBR2_ENST00000359013.4_Silent_p.G343G	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	318	Protein kinase.				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CGGAGTTGGGGAAACAATACT	0.552000													21	39					0	0	0.001882	0	0
THSD7B	80731	broad.mit.edu	37	2	138169219	138169219	+	Silent	SNP	T	T	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:138169219T>C	ENST00000409968.1	+	14	2914	c.2736T>C	c.(2734-2736)ctT>ctC	p.L912L	THSD7B_ENST00000272643.3_Silent_p.L912L|THSD7B_ENST00000413152.2_Silent_p.L881L|THSD7B_ENST00000543459.1_Intron					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		ATTCTGACCTTTACCCTCTAG	0.403000													24	47					0	0	0.003330	0	0
CARD9	64170	broad.mit.edu	37	9	139259614	139259614	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:139259614C>T	ENST00000371732.5	-	11	1578	c.1413G>A	c.(1411-1413)gaG>gaA	p.E471E	CARD9_ENST00000460290.1_5'UTR|CARD9_ENST00000371734.3_Silent_p.E471E	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	471					positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		GCAAAACCTGCTCCTGGTGCA	0.672000													23	33					0	0	0.003954	0	0
ADAMTSL4	54507	broad.mit.edu	37	1	150526424	150526424	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:150526424G>A	ENST00000271643.4	+	6	1193	c.957G>A	c.(955-957)acG>acA	p.T319T	RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369038.2_Silent_p.T319T|ADAMTSL4_ENST00000369039.5_Silent_p.T319T|ADAMTSL4_ENST00000369041.5_Silent_p.T319T	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	319					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	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;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CTTGGGGAACGGGGGGGACTC	0.721000													12	16					0	0	0.000978	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77912666	77912666	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:77912666C>T	ENST00000321110.1	-	2	1547	c.1252G>A	c.(1252-1254)Gaa>Aaa	p.E418K		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	418							nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						GGTTGGTTTTCAGCTGGTGGA	0.522000													30	63					0	0	0.009535	0	0
HTR3A	3359	broad.mit.edu	37	11	113860275	113860275	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:113860275G>A	ENST00000504030.2	+	9	1672	c.1227G>A	c.(1225-1227)cgG>cgA	p.R409R	HTR3A_ENST00000299961.5_Silent_p.R394R|HTR3A_ENST00000535865.1_Silent_p.R153R|HTR3A_ENST00000355556.2_Silent_p.R447R|HTR3A_ENST00000506841.2_Silent_p.R441R|HTR3A_ENST00000375498.2_Silent_p.R415R			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	409			R -> Q.		digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	p.R441Q(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	CACCACCTCGGGAGGCCTCGC	0.642000													38	36					0	0	0.006999	0	0
KLHL6	89857	broad.mit.edu	37	3	183245701	183245701	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:183245701A>T	ENST00000341319.3	-	2	426	c.391T>A	c.(391-393)Tac>Aac	p.Y131N	KLHL6_ENST00000487643.1_5'UTR	NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	131	BTB.									breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			TTGCTGGTGTACGTGTAGTCC	0.493000													35	35					0	0	0.003271	0	0
TTC40	54777	broad.mit.edu	37	10	134627676	134627676	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:134627676C>T	ENST00000368586.5	-	54	7468	c.7368G>A	c.(7366-7368)ctG>ctA	p.L2456L	TTC40_ENST00000263170.5_Silent_p.L617L	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	617										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						GCTTGCTTCCCAGATGTCCCG	0.582000													18	13					0	0	0.008871	0	0
TP63	8626	broad.mit.edu	37	3	189455613	189455613	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:189455613C>T	ENST00000264731.3	+	2	236	c.147C>T	c.(145-147)ttC>ttT	p.F49F	TP63_ENST00000320472.5_Silent_p.F49F|TP63_ENST00000382063.4_Silent_p.F49F|TP63_ENST00000440651.2_Silent_p.F49F|TP63_ENST00000418709.2_Silent_p.F49F|TP63_ENST00000392460.3_Silent_p.F49F	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	49	Transcription activation.				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CAAATGAATTCCTCAGTCCAG	0.388000										HNSCC(45;0.13)			36	46					0	0	0.003755	0	0
MAGEA11	4110	broad.mit.edu	37	X	148797441	148797441	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:148797441C>T	ENST00000355220.5	+	5	397	c.295C>T	c.(295-297)Ccc>Tcc	p.P99S	MAGEA11_ENST00000333104.4_Missense_Mutation_p.P70S	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	99						cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CCAGATATTTCCCACAGTTCG	0.527000													32	82					0	0	0.003271	0	0
DIDO1	11083	broad.mit.edu	37	20	61512356	61512356	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:61512356G>A	ENST00000266070.4	-	16	5277	c.4952C>T	c.(4951-4953)tCg>tTg	p.S1651L	DIDO1_ENST00000395343.1_Missense_Mutation_p.S1651L	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1651					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					AGGCCTGGCCGAGCTGTCTCC	0.736000													9	13					0	0	0.000978	0	0
CCDC88B	283234	broad.mit.edu	37	11	64122705	64122705	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:64122705C>T	ENST00000356786.5	+	25	4183	c.4139C>T	c.(4138-4140)tCc>tTc	p.S1380F	CCDC88B_ENST00000359902.2_Missense_Mutation_p.P485S|CCDC88B_ENST00000301897.4_Missense_Mutation_p.S43F|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	1380					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCCCAGAGCTCCCTCTGCCTG	0.677000													10	6					0	0	0.001368	0	0
C3	718	broad.mit.edu	37	19	6684423	6684423	+	Missense_Mutation	SNP	G	G	T	rs139100972		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:6684423G>T	ENST00000245907.6	-	33	4240	c.4148C>A	c.(4147-4149)aCt>aAt	p.T1383N		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1383					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		AAGGATCATAGTGTTCTTGGC	0.453000													36	101					1.57019e-19	1.60984e-19	0.007835	1	0
PDE1A	5136	broad.mit.edu	37	2	183095762	183095762	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:183095762C>T	ENST00000435564.1	-	5	762	c.562G>A	c.(562-564)Gat>Aat	p.D188N	PDE1A_ENST00000409365.1_Missense_Mutation_p.D172N|PDE1A_ENST00000536095.1_Missense_Mutation_p.D84N|PDE1A_ENST00000358139.2_Missense_Mutation_p.D188N|PDE1A_ENST00000331935.6_Missense_Mutation_p.D188N|PDE1A_ENST00000456212.1_Missense_Mutation_p.D188N|PDE1A_ENST00000410103.1_Missense_Mutation_p.D188N|PDE1A_ENST00000351439.5_Missense_Mutation_p.D172N|PDE1A_ENST00000482538.1_5'UTR|PDE1A_ENST00000346717.4_Missense_Mutation_p.D154N	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	188					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.D188N(2)		endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			TTGATAAGATCATATCTGGTA	0.338000													13	65					0	0	0.003163	0	0
MUC16	94025	broad.mit.edu	37	19	9083269	9083269	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:9083269G>A	ENST00000397910.4	-	1	8749	c.8546C>T	c.(8545-8547)cCt>cTt	p.P2849L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2849	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						GGGCTTCACAGGTATCCCTTT	0.537000													11	19					0	0	0.008291	0	0
MAP3K19	80122	broad.mit.edu	37	2	135741291	135741291	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:135741291G>A	ENST00000375845.3	-	8	3207	c.3177C>T	c.(3175-3177)atC>atT	p.I1059I	MAP3K19_ENST00000358371.4_Silent_p.I946I|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392918.3_Silent_p.I241I|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392915.1_Silent_p.I1076I|MAP3K19_ENST00000375844.3_Silent_p.I241I	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		TGGTCCATAGGATAGGTTCTT	0.433000													19	57					0	0	0.001882	0	0
LCT	3938	broad.mit.edu	37	2	136567491	136567491	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:136567491G>A	ENST00000264162.2	-	8	2436	c.2426C>T	c.(2425-2427)tCt>tTt	p.S809F		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	809	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GCTGTAACCAGAAGGGCCTTC	0.458000													20	71					0	0	0.008871	0	0
RBP3	5949	broad.mit.edu	37	10	48388515	48388515	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:48388515C>T	ENST00000224600.4	-	1	2476	c.2363G>A	c.(2362-2364)aGc>aAc	p.S788N		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	788	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CGTGGAGTAGCTGCCAGGGTT	0.617000													4	29					0	0	0.000602	0	0
SYBU	55638	broad.mit.edu	37	8	110587670	110587670	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:110587670C>T	ENST00000399066.3	-	6	2175	c.1448G>A	c.(1447-1449)cGa>cAa	p.R483Q	SYBU_ENST00000528647.1_Missense_Mutation_p.R485Q|SYBU_ENST00000408889.3_Missense_Mutation_p.R367Q|SYBU_ENST00000533171.1_Missense_Mutation_p.R486Q|SYBU_ENST00000276646.9_Missense_Mutation_p.R486Q|SYBU_ENST00000532779.1_Missense_Mutation_p.R418Q|SYBU_ENST00000422135.1_Missense_Mutation_p.R486Q|SYBU_ENST00000446070.2_Missense_Mutation_p.R485Q|SYBU_ENST00000424158.2_Missense_Mutation_p.R491Q|SYBU_ENST00000529175.1_Missense_Mutation_p.R280Q|SYBU_ENST00000529690.1_Missense_Mutation_p.R356Q|SYBU_ENST00000419099.1_Missense_Mutation_p.R485Q|SYBU_ENST00000528331.1_Missense_Mutation_p.R367Q|SYBU_ENST00000440310.1_Missense_Mutation_p.R486Q|SYBU_ENST00000408908.2_Missense_Mutation_p.R486Q|SYBU_ENST00000533895.1_Missense_Mutation_p.R485Q|SYBU_ENST00000433638.1_Missense_Mutation_p.R486Q|SYBU_ENST00000533065.1_Missense_Mutation_p.R367Q	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	486						cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane		p.R483L(1)		NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						CTGAACGGCTCGCTCCACCAC	0.622000													9	46					0	0	0.004482	0	0
NUTM2D	728130	broad.mit.edu	37	10	89120453	89120453	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:89120453G>A	ENST00000412718.1	+	2	928	c.382G>A	c.(382-384)Gct>Act	p.A128T	NUTM2D_ENST00000381697.2_Missense_Mutation_p.A128T					NUT family member 2D																		TGGGGCCGGGGCTTCCAACGT	0.647000													12	48					0	0	0.001855	0	0
ASAP2	8853	broad.mit.edu	37	2	9490987	9490987	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:9490987C>T	ENST00000281419.3	+	12	1414	c.1074C>T	c.(1072-1074)acC>acT	p.T358T	ASAP2_ENST00000315273.4_Silent_p.T358T	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	358	PH.				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						AGGTGAAGACCAACCCTGAGG	0.512000													11	28					0	0	0.000978	0	0
RAB34	83871	broad.mit.edu	37	17	27043983	27043983	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:27043983C>T	ENST00000395245.3	-	2	710	c.84G>A	c.(82-84)ggG>ggA	p.G28G	RAB34_ENST00000301043.6_Silent_p.G28G|RAB34_ENST00000415040.2_Silent_p.G28G|RAB34_ENST00000395242.2_Silent_p.G28G|RAB34_ENST00000450529.1_Silent_p.G28G|RAB34_ENST00000436730.3_Silent_p.G28G|RAB34_ENST00000453384.3_Silent_p.G85G|RAB34_ENST00000447716.1_Silent_p.G85G|RAB34_ENST00000395243.3_Silent_p.G28G	NM_001256281.1|NM_031934.5	NP_001243210.1|NP_114140.4	Q9BZG1	RAB34_HUMAN	RAB34, member RAS oncogene family	28					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding	p.G85G(1)|p.G28G(1)		endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2)	14	Lung NSC(42;0.00431)					AGTCTTTGTGCCCGTGCAAAG	0.637000													4	96					0	0	0.009096	0	0
OR7D4	125958	broad.mit.edu	37	19	9325379	9325379	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:9325379G>A	ENST00000308682.2	-	1	163	c.135C>T	c.(133-135)atC>atT	p.I45I		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						CGGCCAGAATGATGAGCAGGT	0.552000													26	95					0	0	0.003954	0	0
SOX3	6658	broad.mit.edu	37	X	139586695	139586695	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:139586695C>T	ENST00000370536.2	-	1	530	c.531G>A	c.(529-531)tgG>tgA	p.W177*		NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	177					face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding	p.W177*(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					TCAGCAGTTTCCAGTCGGCGC	0.602000													25	55					0	0	0.004656	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102292671	102292671	+	RNA	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:102292671C>T	ENST00000561463.1	+	0	717																											ACTCTCAGACCAAGGAGTTCA	0.617000													4	16					0	0	0.009096	0	0
CLP1	10978	broad.mit.edu	37	11	57426975	57426975	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:57426975G>A	ENST00000533682.1	+	2	752	c.27G>A	c.(25-27)aaG>aaA	p.K9K	CLP1_ENST00000529430.1_Silent_p.K20K|CLP1_ENST00000302731.4_Silent_p.K9K|CLP1_ENST00000525602.1_Silent_p.K9K			Q92989	CLP1_HUMAN	cleavage and polyadenylation factor I subunit 1	9					mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|siRNA loading onto RISC involved in RNA interference|targeting of mRNA for destruction involved in RNA interference|termination of RNA polymerase II transcription|tRNA splicing, via endonucleolytic cleavage and ligation	nucleoplasm|tRNA-intron endonuclease complex	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|stomach(1)	15						ATGATGACAAGAAGCCAACCA	0.423000													10	9					0	0	0.008291	0	0
SLC10A2	6555	broad.mit.edu	37	13	103698508	103698508	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr13:103698508C>T	ENST00000245312.3	-	6	1618	c.1022G>A	c.(1021-1023)gGa>gAa	p.G341E		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	341					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TTGAAATCCTCCATTTGCCTT	0.363000													13	44					0	0	0.001855	0	0
USP10	9100	broad.mit.edu	37	16	84796689	84796689	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:84796689A>G	ENST00000219473.7	+	9	1762	c.1649A>G	c.(1648-1650)aAt>aGt	p.N550S	USP10_ENST00000570191.1_Missense_Mutation_p.N554S	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	550					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						TCACCAAGTAATGAAAGTAGG	0.433000													22	80					0	0	0.002299	0	0
COL5A2	1290	broad.mit.edu	37	2	189910627	189910627	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:189910627G>A	ENST00000374866.3	-	46	3482	c.3208C>T	c.(3208-3210)Cgt>Tgt	p.R1070C		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1070					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GGGTCTCCACGATCACCCTAA	0.443000													17	52					0	0	0.004990	0	0
DNAH9	1770	broad.mit.edu	37	17	11790187	11790187	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:11790187G>A	ENST00000262442.3	+	57	11085	c.11017G>A	c.(11017-11019)Gag>Aag	p.E3673K	DNAH9_ENST00000396001.2_5'UTR|DNAH9_ENST00000454412.2_Missense_Mutation_p.E3673K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3673					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E3673K(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CGAGGCCCGAGAGCACTACCG	0.527000													21	43					0	0	0.010504	0	0
PSG9	5678	broad.mit.edu	37	19	43762387	43762387	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:43762387C>T	ENST00000244293.7	-	4	997	c.931G>A	c.(931-933)Gaa>Aaa	p.E311K	PSG9_ENST00000418820.2_Missense_Mutation_p.E311K|PSG9_ENST00000443718.3_Missense_Mutation_p.E311K|PSG9_ENST00000270077.3_Missense_Mutation_p.E404K|PSG9_ENST00000291752.5_Missense_Mutation_p.E218K|PSG9_ENST00000596730.1_Missense_Mutation_p.E218K|PSG9_ENST00000593948.1_Missense_Mutation_p.E311K			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	404	Ig-like C2-type 2.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				TTGGAGATTTCCTTGCCAGTG	0.448000													59	162					0	0	0.003610	0	0
GYPA	2993	broad.mit.edu	37	4	145039905	145039905	+	Splice_Site	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:145039905C>T	ENST00000360771.4	-	4	348	c.232_splice	c.e4-1	p.G78_splice	RP11-673E1.4_ENST00000506982.1_RNA|GYPA_ENST00000512064.1_Intron|GYPA_ENST00000503627.1_Intron|GYPB_ENST00000283126.7_Intron|GYPA_ENST00000504786.1_Splice_Site_p.G46_splice|GYPA_ENST00000324022.10_Splice_Site_p.G45_splice|GYPA_ENST00000512789.1_Splice_Site_p.G13_splice|GYPA_ENST00000535709.1_Splice_Site_p.G52_splice	NM_002099.6	NP_002090.4	P02724	GLPA_HUMAN	glycophorin A (MNS blood group)	78			G -> R (in ERIK antigen; dbSNP:rs1800582).		interspecies interaction between organisms	membrane fraction	receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10	all_hematologic(180;0.15)					TACCCTTTCTCCTATAAAGCA	0.318000													18	47					0	0	0.001882	0	0
EVPL	2125	broad.mit.edu	37	17	74006303	74006303	+	Missense_Mutation	SNP	C	C	T	rs139325619		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:74006303C>T	ENST00000301607.3	-	22	3236	c.2983G>A	c.(2983-2985)Gtg>Atg	p.V995M	EVPL_ENST00000586740.1_Missense_Mutation_p.V1017M	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	995	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TGGGCTGCCACTTCCAGGTCT	0.662000													30	57					0	0	0.002096	0	0
LRP2	4036	broad.mit.edu	37	2	170090079	170090079	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:170090079G>A	ENST00000263816.3	-	30	5225	c.4940C>T	c.(4939-4941)gCc>gTc	p.A1647V		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1647					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GAGAGTTAGGGCATAGGGGTG	0.488000													15	29					0	0	0.006122	0	0
FAM131A	131408	broad.mit.edu	37	3	184060569	184060569	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:184060569C>T	ENST00000310585.4	+	2	1817	c.453C>T	c.(451-453)ctC>ctT	p.L151L	FAM131A_ENST00000450976.1_Silent_p.L97L|FAM131A_ENST00000453072.1_Silent_p.L97L|EIF2B5_ENST00000444495.1_Intron|FAM131A_ENST00000340957.5_Silent_p.L97L|FAM131A_ENST00000383847.2_Silent_p.L182L|FAM131A_ENST00000418281.1_Silent_p.L59L			Q6UXB0	F131A_HUMAN	family with sequence similarity 131, member A	151						extracellular region				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1)	14	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AAGCCAAGCTCCGAGCATGGT	0.557000													14	52					0	0	0.002450	0	0
WWP2	11060	broad.mit.edu	37	16	69965095	69965095	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:69965095C>T	ENST00000359154.2	+	14	1587	c.1486C>T	c.(1486-1488)Cgg>Tgg	p.R496W	WWP2_ENST00000568684.1_Missense_Mutation_p.R57W|WWP2_ENST00000448661.1_Missense_Mutation_p.R496W|WWP2_ENST00000542271.1_Missense_Mutation_p.R380W|WWP2_ENST00000356003.2_Missense_Mutation_p.R496W|WWP2_ENST00000544162.1_3'UTR	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	496					entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCGCAGTTTTCGGTGGAAGTA	0.488000													38	85					0	0	0.006230	0	0
PLCZ1	89869	broad.mit.edu	37	12	18876251	18876251	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:18876251C>T	ENST00000447925.2	-	4	624	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K	PLCZ1_ENST00000539875.1_Intron|PLCZ1_ENST00000435379.1_Intron|PLCZ1_ENST00000266505.7_Missense_Mutation_p.E121K|RP11-361I14.2_ENST00000536931.1_RNA	NM_033123.2	NP_149114.2	Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	121					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					ATACCTTCTTCGATAGGCTCG	0.294000													4	15					0	0	0.000602	0	0
KIAA0196	9897	broad.mit.edu	37	8	126091068	126091068	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:126091068G>A	ENST00000318410.7	-	6	972	c.623C>T	c.(622-624)cCc>cTc	p.P208L	KIAA0196_ENST00000517845.1_Missense_Mutation_p.P60L	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	208					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			ATAGCTCTCGGGATAGTTGGA	0.428000													13	30					0	0	0.001368	0	0
SLC2A10	81031	broad.mit.edu	37	20	45354929	45354929	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:45354929C>T	ENST00000359271.2	+	2	1504	c.1254C>T	c.(1252-1254)gtC>gtT	p.V418V		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	418						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				GCCTGATGGTCTTTGTCAGTG	0.632000													10	28					0	0	0.000978	0	0
IL7R	3575	broad.mit.edu	37	5	35873737	35873737	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:35873737C>T	ENST00000303115.3	+	5	822	c.693C>T	c.(691-693)atC>atT	p.I231I	IL7R_ENST00000343305.4_Silent_p.I231I|IL7R_ENST00000506850.1_Silent_p.I231I	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	231					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			CTCCAGAGATCAATAATAGCT	0.408000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						7	33					0	0	0.006214	0	0
LRRC3B	116135	broad.mit.edu	37	3	26751914	26751914	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:26751914G>A	ENST00000396641.2	+	2	1343	c.751G>A	c.(751-753)Gaa>Aaa	p.E251K	LRRC3B_ENST00000456208.2_Missense_Mutation_p.E251K|LRRC3B_ENST00000417744.1_Missense_Mutation_p.E251K	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	251						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						GAAAGCAGATGAACCTGATGA	0.413000													12	35					0	0	0.003163	0	0
FARP1	10160	broad.mit.edu	37	13	99047564	99047564	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr13:99047564G>A	ENST00000376586.2	+	13	1584	c.1248G>A	c.(1246-1248)aaG>aaA	p.K416K	FARP1_ENST00000319562.6_Silent_p.K416K|FARP1_ENST00000595437.1_Silent_p.K416K			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	416					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AGGAACCGAAGGTTTCCGCCG	0.692000													21	33					0	0	0.002299	0	0
TTN	7273	broad.mit.edu	37	2	179612918	179612918	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:179612918G>A	ENST00000360870.5	-	46	14431	c.14209C>T	c.(14209-14211)Cca>Tca	p.P4737S	TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	848	Ig-like 27.						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)			GATGAGGTTGGAAGTAGGGCA	0.363000													11	34					0	0	0.008291	0	0
AZGP1	563	broad.mit.edu	37	7	99569411	99569411	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:99569411C>T	ENST00000411734.1	-	2	291	c.286G>A	c.(286-288)Gag>Aag	p.E96K	AZGP1_ENST00000292401.4_Missense_Mutation_p.E99K			P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	99				Missing (in Ref. 9; AA sequence).	antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					TTCAGGGTCTCCATAAAGATG	0.537000													35	71					0	0	0.003755	0	0
OR51A2	401667	broad.mit.edu	37	11	4976461	4976461	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:4976461G>A	ENST00000380371.1	-	1	482	c.483C>T	c.(481-483)ttC>ttT	p.F161F	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAGTGAAAGGGAAGGGAAGAA	0.433000													34	48					0	0	0.006999	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31146151	31146151	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:31146151G>A	ENST00000304166.4	+	16	1549	c.1260G>A	c.(1258-1260)gtG>gtA	p.V420V	ADCYAP1R1_ENST00000409363.1_Silent_p.V399V|ADCYAP1R1_ENST00000396211.2_Silent_p.V448V|ADCYAP1R1_ENST00000409489.1_Silent_p.V476V	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	420					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						GCTGGAAGGTGAACCGTTACT	0.592000													15	25					0	0	0.004007	0	0
GPR149	344758	broad.mit.edu	37	3	154139180	154139180	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:154139180G>A	ENST00000389740.2	-	3	1370	c.1271C>T	c.(1270-1272)tCc>tTc	p.S424F		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	424						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			ATAGAATATGGAATTTTCATC	0.333000													27	74					0	0	0.004656	0	0
ROCK2	9475	broad.mit.edu	37	2	11389844	11389844	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:11389844G>A	ENST00000315872.6	-	4	853	c.405C>T	c.(403-405)gcC>gcT	p.A135A	ROCK2_ENST00000462366.1_5'UTR	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	135	Protein kinase.				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)		CCCAAAAAAAGGCAGAATCTG	0.353000													32	79					0	0	0.002445	0	0
RHBDF1	64285	broad.mit.edu	37	16	112888	112888	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:112888G>A	ENST00000262316.6	-	6	822	c.680C>T	c.(679-681)tCc>tTc	p.S227F	RHBDF1_ENST00000454039.2_Missense_Mutation_p.S227F	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	227					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				ATCCCTAACGGAGCGGCCCTG	0.642000													22	45					0	0	0.005443	0	0
GPR112	139378	broad.mit.edu	37	X	135429448	135429448	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:135429448G>A	ENST00000394143.1	+	6	3874	c.3583G>A	c.(3583-3585)Gga>Aga	p.G1195R	GPR112_ENST00000287534.4_Missense_Mutation_p.G1132R|GPR112_ENST00000412101.1_Missense_Mutation_p.G990R|GPR112_ENST00000394141.1_Missense_Mutation_p.G990R|GPR112_ENST00000370652.1_Missense_Mutation_p.G1195R	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1195					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CAGTGGTGGTGGAGTTGTTGC	0.463000													50	124					0	0	0.003610	0	0
RABEPK	10244	broad.mit.edu	37	9	127994992	127994992	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:127994992G>A	ENST00000373538.3	+	7	1104	c.794G>A	c.(793-795)gGa>gAa	p.G265E	RABEPK_ENST00000259460.8_Missense_Mutation_p.G214E|RABEPK_ENST00000394124.4_3'UTR|RABEPK_ENST00000394125.4_Missense_Mutation_p.G265E	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	265					receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						ACTCCTGCAGGAGCACTGGAC	0.507000													11	30					0	0	0.001368	0	0
C7	730	broad.mit.edu	37	5	40972624	40972624	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:40972624C>T	ENST00000313164.9	+	15	2361	c.2002C>T	c.(2002-2004)Cct>Tct	p.P668S	C7_ENST00000494960.1_3'UTR	NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	668	Sushi 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				CTTAGAAGGTCCTTCAGCATT	0.483000													35	98					0	0	0.005524	0	0
SERINC2	347735	broad.mit.edu	37	1	31896635	31896635	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:31896635C>T	ENST00000373710.1	+	3	435	c.162C>T	c.(160-162)ttC>ttT	p.F54F	SERINC2_ENST00000536859.1_Silent_p.F49F|SERINC2_ENST00000536384.1_Silent_p.F49F|SERINC2_ENST00000491976.1_3'UTR|SERINC2_ENST00000373709.3_Silent_p.F45F	NM_001199038.1	NP_001185967.1	Q96SA4	SERC2_HUMAN	serine incorporator 2	45						integral to membrane				cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		TCACGTTCTTCCTCTTCCTGG	0.667000													37	90					0	0	0.004878	0	0
ZNF454	285676	broad.mit.edu	37	5	178392621	178392621	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:178392621C>T	ENST00000320129.3	+	5	1519	c.1216C>T	c.(1216-1218)Cac>Tac	p.H406Y	ZNF454_ENST00000519564.1_Missense_Mutation_p.H406Y	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	406					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|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)	all cancers(165;0.234)		TCGGAAAATTCACACTGGAGA	0.418000													10	39					0	0	0.006214	0	0
TTN	7273	broad.mit.edu	37	2	179526498	179526498	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:179526498G>A	ENST00000589042.1	-	180	37497	c.37273C>T	c.(37273-37275)Cca>Tca	p.P12425S	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10615							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)			TTAACAGGTGGGACTTCAGGC	0.348000													25	63					0	0	0.009535	0	0
PALM2	114299	broad.mit.edu	37	9	112705126	112705126	+	Silent	SNP	C	C	A	rs149868902	byFrequency	TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:112705126C>A	ENST00000448454.2	+	8	663	c.663C>A	c.(661-663)acC>acA	p.T221T	PALM2_ENST00000483909.1_Silent_p.T185T|PALM2-AKAP2_ENST00000302798.7_Intron|PALM2-AKAP2_ENST00000374530.3_Intron|PALM2_ENST00000314527.4_Silent_p.T219T|PALM2_ENST00000374531.2_Silent_p.T187T|AKAP2_ENST00000555236.1_Intron|AKAP2_ENST00000510514.5_Intron					paralemmin 2											breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						CAGGAGGCACCGTAGTAGAAA	0.468000													4	42					0.000602214	0.000607864	0.000602	1	0
NPNT	255743	broad.mit.edu	37	4	106848586	106848586	+	Splice_Site	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:106848586G>A	ENST00000379987.2	+	3	481		c.e3+1		NPNT_ENST00000513430.1_Splice_Site|NPNT_ENST00000305572.8_Splice_Site|NPNT_ENST00000453617.2_Splice_Site|RP11-710F7.2_ENST00000512514.1_RNA|RP11-710F7.2_ENST00000511059.1_RNA|NPNT_ENST00000506666.1_Splice_Site|NPNT_ENST00000427316.2_Splice_Site|NPNT_ENST00000514622.1_Splice_Site	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin						cell differentiation	membrane	calcium ion binding			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		TGTAATCAAGGTAGGAAAACA	0.398000													5	24					0	0	0.000602	0	0
CD1A	909	broad.mit.edu	37	1	158224966	158224966	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:158224966G>A	ENST00000289429.5	+	2	684	c.151G>A	c.(151-153)Gat>Aat	p.D51N		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	51					antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	TTGGCTGAGTGATTTGCAGAC	0.517000													21	33					0	0	0.010504	0	0
MAGEA5	4104	broad.mit.edu	37	X	151283840	151283840	+	RNA	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:151283840G>A	ENST00000509345.2	-	0	496																											AGGACCTGGTGACCCAGCAGC	0.612000													24	75					0	0	0.006320	0	0
MYT1L	23040	broad.mit.edu	37	2	1914070	1914070	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:1914070C>T	ENST00000399161.2	-	13	2506	c.1759G>A	c.(1759-1761)Gaa>Aaa	p.E587K	MYT1L_ENST00000428368.2_Missense_Mutation_p.E585K	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	587					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TGGTGCTTTTCCTGTGCCTTG	0.592000													15	40					0	0	0.004007	0	0
NOTCH1	4851	broad.mit.edu	37	9	139405216	139405216	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:139405216G>A	ENST00000277541.6	-	17	2704	c.2629C>T	c.(2629-2631)Ccg>Tcg	p.P877S		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	877	EGF-like 23; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGCCGGCACGGGCTCAGAACG	0.697000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			12	31					0	0	0.001855	0	0
CALN1	83698	broad.mit.edu	37	7	71488686	71488686	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:71488686G>A	ENST00000395275.2	-	5	845	c.457C>T	c.(457-459)Cgc>Tgc	p.R153C	CALN1_ENST00000405452.2_Missense_Mutation_p.R111C|CALN1_ENST00000431984.1_Missense_Mutation_p.R111C|CALN1_ENST00000412588.1_Missense_Mutation_p.R153C|CALN1_ENST00000395276.2_Missense_Mutation_p.R111C|CALN1_ENST00000329008.5_Missense_Mutation_p.R111C	NM_031468.3	NP_113656.2	Q9BXU9	CABP8_HUMAN	calneuron 1	111						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				AAACCATCGCGACCTTCTGAA	0.418000													27	77					0	0	0.008361	0	0
GADL1	339896	broad.mit.edu	37	3	30891550	30891550	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:30891550G>A	ENST00000454381.3	-	6	635	c.589C>T	c.(589-591)Cct>Tct	p.P197S	GADL1_ENST00000282538.5_Missense_Mutation_p.P197S			Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	197					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25					Pyridoxal Phosphate(DB00114)	TTAATATCAGGACAATATTTG	0.323000													5	30					0	0	0.001984	0	0
CNTN5	53942	broad.mit.edu	37	11	100226884	100226884	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:100226884C>T	ENST00000524871.1	+	25	3526	c.3236C>T	c.(3235-3237)tCt>tTt	p.S1079F	CNTN5_ENST00000279463.3_Missense_Mutation_p.S1079F|CNTN5_ENST00000418526.2_Missense_Mutation_p.S1005F|CNTN5_ENST00000528682.1_Missense_Mutation_p.S1079F|CNTN5_ENST00000524560.1_3'UTR	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	1079			S -> T (in dbSNP:rs1216183).		cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		ACCCTTCACTCTCTCTCCACA	0.408000													4	5					0	0	0.000602	0	0
OR6F1	343169	broad.mit.edu	37	1	247875979	247875979	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:247875979G>A	ENST00000302084.2	-	1	126	c.79C>T	c.(79-81)Ctc>Ttc	p.L27F	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	27					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)			AGCATAAAGAGAGAGAGCTGA	0.458000													42	155					0	0	0.002852	0	0
HELZ2	85441	broad.mit.edu	37	20	62194489	62194489	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:62194489G>A	ENST00000467148.1	-	8	5755	c.5686C>T	c.(5686-5688)Ctg>Ttg	p.L1896L	HELZ2_ENST00000427522.2_Silent_p.L1327L	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		CTCGGTACCAGGAAGCCGTGC	0.692000													4	4					0	0	0.009096	0	0
IL17B	27190	broad.mit.edu	37	5	148754032	148754032	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:148754032G>A	ENST00000261796.3	-	3	493	c.443C>T	c.(442-444)cCt>cTt	p.P148L	RP11-394O4.3_ENST00000521756.1_RNA|IL17B_ENST00000505432.1_5'UTR	NM_014443.2	NP_055258.1	Q9UHF5	IL17B_HUMAN	interleukin 17B	148					cell-cell signaling|immune response|inflammatory response	extracellular space	cytokine activity|signal transducer activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|urinary_tract(1)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGGCGCACAGGAACCTGGCT	0.682000													23	47					0	0	0.003330	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55360232	55360232	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:55360232G>A	ENST00000398661.2	-	8	1001	c.870C>T	c.(868-870)atC>atT	p.I290I	HMGCLL1_ENST00000308161.4_Silent_p.I228I|HMGCLL1_ENST00000274901.4_Silent_p.I260I|HMGCLL1_ENST00000508459.1_Intron|HMGCLL1_ENST00000370850.2_Silent_p.I157I	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	290							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			GGGCCGTAAGGATATTTGCTA	0.388000													11	20					0	0	0.001368	0	0
AFM	173	broad.mit.edu	37	4	74352808	74352808	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:74352808C>T	ENST00000226355.3	+	5	700	c.607C>T	c.(607-609)Caa>Taa	p.Q203*		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	203	Albumin 1.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CAACTGCCTTCAAACAAGGGT	0.413000													9	25					0	0	0.004482	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55360348	55360348	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:55360348C>T	ENST00000398661.2	-	8	885	c.754G>A	c.(754-756)Gga>Aga	p.G252R	HMGCLL1_ENST00000308161.4_Missense_Mutation_p.G190R|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.G222R|HMGCLL1_ENST00000508459.1_Intron|HMGCLL1_ENST00000370850.2_Missense_Mutation_p.G119R	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	252							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			GTTCCCACTCCAATTGTGTCT	0.418000													14	28					0	0	0.001855	0	0
MYL9	10398	broad.mit.edu	37	20	35176481	35176481	+	Silent	SNP	C	C	T	rs146334996		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:35176481C>T	ENST00000279022.2	+	3	335	c.231C>T	c.(229-231)gcC>gcT	p.A77A	RP5-977B1.7_ENST00000439595.1_RNA|RP5-977B1.7_ENST00000425233.1_RNA|MYL9_ENST00000346786.2_Intron	NM_006097.4	NP_006088.2	P24844	MYL9_HUMAN	myosin, light chain 9, regulatory	77					axon guidance|muscle contraction|regulation of muscle contraction	cytosol|muscle myosin complex	calcium ion binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)	8	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				TGAGCGAGGCCCCGGGGCCCA	0.617000													8	26					0	0	0.004482	0	0
CCDC89	220388	broad.mit.edu	37	11	85396579	85396579	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:85396579G>A	ENST00000316398.3	-	1	741	c.595C>T	c.(595-597)Cag>Tag	p.Q199*		NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	199						cytoplasm|nucleus				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				CAGGCATCCTGAGCACACCTC	0.612000													49	60					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179622510	179622510	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:179622510C>T	ENST00000589042.1	-	45	10661	c.10437G>A	c.(10435-10437)ggG>ggA	p.G3479G	TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Silent_p.G3433G|TTN_ENST00000460472.2_Intron|TTN_ENST00000360870.5_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3164							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)			TGACTGTCTCCCCGTTGTGCA	0.473000													35	131					0	0	0.008740	0	0
RBP3	5949	broad.mit.edu	37	10	48390122	48390122	+	Silent	SNP	G	G	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:48390122G>T	ENST00000224600.4	-	1	869	c.756C>A	c.(754-756)gcC>gcA	p.A252A		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	252	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CCACCACGATGGCCCTGCGCA	0.647000													11	23					4.68919e-08	4.75773e-08	0.008291	1	0
PAICS	10606	broad.mit.edu	37	4	57318118	57318118	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:57318118C>T	ENST00000514888.1	+	8	1091	c.576C>T	c.(574-576)atC>atT	p.I192I	PAICS_ENST00000512576.1_Silent_p.I284I|PAICS_ENST00000399688.3_Silent_p.I291I|PAICS_ENST00000264221.2_Silent_p.I284I			P22234	PUR6_HUMAN	phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase	284	SAICAR synthetase.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|identical protein binding|phosphoribosylaminoimidazole carboxylase activity|phosphoribosylaminoimidazolesuccinocarboxamide synthase activity			endometrium(1)|kidney(2)|large_intestine(1)|urinary_tract(1)	5	Glioma(25;0.08)|all_neural(26;0.101)				L-Aspartic Acid(DB00128)	GTGAAAAAATCAAGAAGGCCT	0.408000													4	16					0	0	0.000602	0	0
GIGYF1	64599	broad.mit.edu	37	7	100283077	100283077	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:100283077G>A	ENST00000275732.5	-	10	2291	c.1082C>T	c.(1081-1083)cCt>cTt	p.P361L	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	361										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)					CTCCTCCTGAGGAGGCAGTGG	0.622000													9	34					0	0	0.004482	0	0
MAGEA6	4105	broad.mit.edu	37	X	151870016	151870016	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:151870016G>C	ENST00000329342.5	+	3	931	c.706G>C	c.(706-708)Gac>Cac	p.D236H		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	236	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GGGGAGGGAAGACAGTATCTT	0.532000													87	217					0	0	0.003610	0	0
NLRP9	338321	broad.mit.edu	37	19	56243804	56243804	+	Missense_Mutation	SNP	C	C	T	rs146896528		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:56243804C>T	ENST00000332836.2	-	2	1420	c.1393G>A	c.(1393-1395)Gat>Aat	p.D465N		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	465	NACHT.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GGGTTAGGATCGTCTTTGGGT	0.483000													49	127					0	0	0.003610	0	0
LRRCC1	85444	broad.mit.edu	37	8	86044124	86044124	+	Silent	SNP	A	A	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:86044124A>G	ENST00000414626.2	+	11	2725	c.1836A>G	c.(1834-1836)ttA>ttG	p.L612L	LRRCC1_ENST00000360375.3_Silent_p.L632L			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	632					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						TTGACGTGTTAAGCCAGCAGT	0.363000													12	26					0	0	0.001855	0	0
SLC27A6	28965	broad.mit.edu	37	5	128365365	128365365	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:128365365C>T	ENST00000262462.4	+	9	2658	c.1648C>T	c.(1648-1650)Cca>Tca	p.P550S	SLC27A6_ENST00000395266.1_Missense_Mutation_p.P550S|SLC27A6_ENST00000506176.1_Missense_Mutation_p.P550S			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	550					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		AACATTTCTACCAGCTTATGC	0.313000													9	27					0	0	0.006214	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713324	70713324	+	RNA	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:70713324C>T	ENST00000530196.1	-	0	1194					NR_003951.1																						AATTCTTCATCATGCTGCATA	0.403000													36	150					0	0	0.003755	0	0
ZNF594	84622	broad.mit.edu	37	17	5085533	5085533	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:5085533G>A	ENST00000399604.4	-	1	2159	c.2019C>T	c.(2017-2019)atC>atT	p.I673I	ZNF594_ENST00000575779.1_Silent_p.I673I			Q96JF6	ZN594_HUMAN	zinc finger protein 594	673					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CTCCAGTATGGATTTTCTGGT	0.463000													26	57					0	0	0.003954	0	0
TGFBRAP1	9392	broad.mit.edu	37	2	105896936	105896936	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:105896936A>G	ENST00000393359.2	-	6	1792	c.1366T>C	c.(1366-1368)Tat>Cat	p.Y456H	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.Y456H			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	456					regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						GCCTCTGCATACAGTTTGAGC	0.537000													18	39					0	0	0.007413	0	0
PSMB11	122706	broad.mit.edu	37	14	23511897	23511897	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:23511897C>T	ENST00000408907.2	+	1	522	c.463C>T	c.(463-465)Cgc>Tgc	p.R155C		NM_001099780.1	NP_001093250.1	A5LHX3	PSB11_HUMAN	proteasome (prosome, macropain) subunit, beta type, 11	155					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|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|kidney(2)|lung(4)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		CGGCTGGGACCGCTCTGGCCC	0.622000													17	49					0	0	0.004990	0	0
LAS1L	81887	broad.mit.edu	37	X	64738224	64738224	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:64738224G>A	ENST00000374811.3	-	12	1610	c.1570C>T	c.(1570-1572)Ccc>Tcc	p.P524S	LAS1L_ENST00000374807.5_Missense_Mutation_p.P507S|LAS1L_ENST00000374804.5_Missense_Mutation_p.P465S|LAS1L_ENST00000312391.8_3'UTR	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	524						MLL1 complex|nucleolus	protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						TTCCCAATGGGGGAGGCCTCA	0.577000													47	86					0	0	0.003610	0	0
TTC37	9652	broad.mit.edu	37	5	94820441	94820441	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:94820441G>A	ENST00000358746.2	-	38	4338	c.4040C>T	c.(4039-4041)aCt>aTt	p.T1347I		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1347							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TGTGCAGAGAGTTTCAGCTTC	0.368000													8	29					0	0	0.008291	0	0
LRP1B	53353	broad.mit.edu	37	2	141773430	141773430	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:141773430C>T	ENST00000389484.3	-	13	2996	c.2025G>A	c.(2023-2025)agG>agA	p.R675R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	675					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCTTCTCAATCCTTCCCACGC	0.403000										TSP Lung(27;0.18)			24	60					0	0	0.004656	0	0
CACNA1E	777	broad.mit.edu	37	1	181767606	181767606	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:181767606C>T	ENST00000526775.1	+	46	6557	c.6392C>T	c.(6391-6393)tCc>tTc	p.S2131F	CACNA1E_ENST00000360108.3_Missense_Mutation_p.S2174F|CACNA1E_ENST00000367573.2_Missense_Mutation_p.S2193F|CACNA1E_ENST00000357570.5_Missense_Mutation_p.S2144F|CACNA1E_ENST00000367567.4_Missense_Mutation_p.S1757F|CACNA1E_ENST00000367570.1_Missense_Mutation_p.S2150F|CACNA1E_ENST00000358338.5_Missense_Mutation_p.S2082F	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2193					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GAGGAGGGCTCCCCGCTGACC	0.647000													37	62					0	0	0.004289	0	0
SHQ1	55164	broad.mit.edu	37	3	72799687	72799687	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:72799687G>A	ENST00000325599.8	-	11	1621	c.1482C>T	c.(1480-1482)ccC>ccT	p.P494P	SHQ1_ENST00000468371.1_5'UTR|SHQ1_ENST00000463369.1_Silent_p.P466P	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	494					ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		CTTCAAGAAAGGGACCTTGCA	0.473000													19	68					0	0	0.006122	0	0
FAM120C	54954	broad.mit.edu	37	X	54209044	54209044	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:54209044C>T	ENST00000375180.2	-	1	644	c.588G>A	c.(586-588)ctG>ctA	p.L196L	FAM120C_ENST00000477084.1_Silent_p.L196L|FAM120C_ENST00000328235.4_Silent_p.L196L|FAM120C_ENST00000497680.1_5'UTR	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	196										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GTCCCACGATCAGTTGCGCTG	0.706000													8	19					0	0	0.004482	0	0
NCOR2	9612	broad.mit.edu	37	12	124824657	124824657	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:124824657G>A	ENST00000356219.3	-	38	5758	c.5603C>T	c.(5602-5604)tCc>tTc	p.S1868F	NCOR2_ENST00000404121.2_Missense_Mutation_p.S1422F|NCOR2_ENST00000429285.2_Missense_Mutation_p.S1851F|NCOR2_ENST00000405201.1_Missense_Mutation_p.S1861F|NCOR2_ENST00000404621.1_Missense_Mutation_p.S1851F|NCOR2_ENST00000397355.1_Missense_Mutation_p.S1852F	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1872					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGTCCGAGGGGAGATGGGCGA	0.677000													22	43					0	0	0.003954	0	0
AC008103.5	0	broad.mit.edu	37	22	18846165	18846165	+	RNA	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr22:18846165G>A	ENST00000412938.1	+	0	3523																											TGCGGGAGGAGGGAATGTTCT	0.617000													3	18					0	0	0.001984	0	0
TBC1D1	23216	broad.mit.edu	37	4	38117331	38117331	+	Splice_Site	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:38117331G>A	ENST00000261439.4	+	16	2913	c.2557_splice	c.e16-1	p.G853_splice	TBC1D1_ENST00000407365.1_3'UTR|TBC1D1_ENST00000508802.1_Splice_Site_p.G947_splice	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	853	Rab-GAP TBC.					nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CTTTTCACAGGGCGAACCTTT	0.388000													17	57					0	0	0.006122	0	0
IPO4	79711	broad.mit.edu	37	14	24651015	24651015	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:24651015G>A	ENST00000354464.6	-	27	3018	c.2842C>T	c.(2842-2844)Ctc>Ttc	p.L948F	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	948					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		CGCGCCAGGAGGGGAAAAAGG	0.622000													11	29					0	0	0.008291	0	0
ATP6V1E1	529	broad.mit.edu	37	22	18082825	18082825	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr22:18082825G>A	ENST00000253413.5	-	6	585	c.403C>T	c.(403-405)Cgt>Tgt	p.R135C	ATP6V1E1_ENST00000399796.2_Missense_Mutation_p.R105C|ATP6V1E1_ENST00000399798.2_Missense_Mutation_p.R113C	NM_001696.3	NP_001687.1	P36543	VATE1_HUMAN	ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1	135					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|cytosol|endosome|proton-transporting two-sector ATPase complex, catalytic domain	protein binding|proton-transporting ATPase activity, rotational mechanism			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|urinary_tract(1)	10		all_epithelial(15;0.206)		Lung(27;0.19)		TTCCTGCAACGAACAATCATT	0.438000													12	27					0	0	0.002450	0	0
GPX1	2876	broad.mit.edu	37	3	49395482	49395482	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:49395482G>C	ENST00000419783.1	-	1	551	c.230C>G	c.(229-231)cCg>cGg	p.P77R	GPX1_ENST00000419349.1_Missense_Mutation_p.P77R|GPX1_ENST00000496791.1_5'UTR	NM_000581.2	NP_000572.2	P07203	GPX1_HUMAN	glutathione peroxidase 1	77					anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection	cytosol|mitochondrion	endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding			breast(1)|large_intestine(2)|lung(1)	4				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Glutathione(DB00143)	CTGGTTGCACGGGAAGCCGAG	0.726000													3	20					0	0	0.004672	0	0
ETFA	2108	broad.mit.edu	37	15	76584828	76584828	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:76584828T>C	ENST00000557943.1	-	4	375	c.295A>G	c.(295-297)Act>Gct	p.T99A	ETFA_ENST00000560726.1_5'UTR|ETFA_ENST00000433983.2_Missense_Mutation_p.T50A|ETFA_ENST00000559602.1_Intron	NM_000126.3	NP_000117.1	P13804	ETFA_HUMAN	electron-transfer-flavoprotein, alpha polypeptide	99					respiratory electron transport chain|transport	mitochondrial matrix	electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity			endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						TGCTTCTGAGTTGCCAAAATC	0.353000													16	36					0	0	0.008871	0	0
PNPLA7	375775	broad.mit.edu	37	9	140389596	140389596	+	Silent	SNP	C	C	T	rs141852500	by1000genomes	TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:140389596C>T	ENST00000406427.1	-	19	2352	c.2016G>A	c.(2014-2016)gtG>gtA	p.V672V	PNPLA7_ENST00000371457.1_Silent_p.V253V|PNPLA7_ENST00000277531.4_Silent_p.V647V	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	647					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TCAGTGTCTCCACCTGAGGAC	0.687000													25	38					0	0	0.003330	0	0
AADAT	51166	broad.mit.edu	37	4	171010790	171010790	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:171010790G>A	ENST00000337664.4	-	1	328	c.52C>T	c.(52-54)Ccc>Tcc	p.P18S	AADAT_ENST00000353187.2_Missense_Mutation_p.P18S|AADAT_ENST00000515480.1_Missense_Mutation_p.P18S|AADAT_ENST00000509167.1_Missense_Mutation_p.P18S	NM_016228.3	NP_057312.1	Q8N5Z0	AADAT_HUMAN	aminoadipate aminotransferase	18					2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process	mitochondrial matrix	2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GTCCGGATGGGAGAAGGGTTT	0.557000											OREG0016403	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	51	130					0	0	0.003610	0	0
ZNF10	7556	broad.mit.edu	37	12	133732654	133732654	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:133732654C>T	ENST00000248211.6	+	5	1044	c.822C>T	c.(820-822)ttC>ttT	p.F274F	ZNF268_ENST00000416488.1_Intron|CTD-2140B24.4_ENST00000540096.2_Intron|ZNF10_ENST00000426665.2_Silent_p.F274F|ZNF10_ENST00000402932.2_Intron	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	274				Missing (in Ref. 1).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		GAAAATTCTTCAGCTGGCGCT	0.403000													19	41					0	0	0.007413	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303792	151303792	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:151303792G>A	ENST00000370323.4	-	4	617	c.301C>T	c.(301-303)Cca>Tca	p.P101S	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Missense_Mutation_p.P101S	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	101										endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TGATCTAATGGAAGGGAAGCA	0.542000													73	209					0	0	0.003610	0	0
TBK1	29110	broad.mit.edu	37	12	64849723	64849723	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:64849723C>T	ENST00000331710.5	+	2	412	c.73C>T	c.(73-75)Cgt>Tgt	p.R25C		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	25	Protein kinase.				I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		AAATGTCTTTCGTGGAAGACA	0.388000													6	12					0	0	0.001168	0	0
EXT1	2131	broad.mit.edu	37	8	118842550	118842550	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:118842550G>A	ENST00000378204.2	-	4	2009	c.1203C>T	c.(1201-1203)atC>atT	p.I401I		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	401					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral 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|protein homodimerization activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			TAAGTGCTAGGATTTTATCCT	0.373000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses				13	37					0	0	0.001855	0	0
FOXN1	8456	broad.mit.edu	37	17	26862111	26862111	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:26862111G>A	ENST00000226247.2	+	7	1551	c.1522G>A	c.(1522-1524)Gag>Aag	p.E508K	FOXN1_ENST00000579795.1_Missense_Mutation_p.E508K	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	508					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus 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			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					GCTACTGGCCGAGCCTTCCCC	0.652000													14	31					0	0	0.002450	0	0
CLCN6	1185	broad.mit.edu	37	1	11897473	11897473	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:11897473C>T	ENST00000346436.6	+	20	2264	c.2212C>T	c.(2212-2214)Cct>Tct	p.P738S	CLCN6_ENST00000376487.3_Missense_Mutation_p.P716S|CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376496.3_Missense_Mutation_p.P738S	NM_001286.3	NP_001277.1	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	738					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GCGGTTCCGCCCTCTGACCTT	0.557000													29	38					0	0	0.007291	0	0
SCN11A	11280	broad.mit.edu	37	3	38908899	38908899	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:38908899G>A	ENST00000302328.3	-	23	4062	c.3864C>T	c.(3862-3864)ttC>ttT	p.F1288F	SCN11A_ENST00000444237.2_Silent_p.F1288F|SCN11A_ENST00000456224.3_Silent_p.F1250F|SCN11A_ENST00000450244.1_Silent_p.F1288F	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1288					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TAAAGACTACGAAGTAAATGT	0.338000													11	46					0	0	0.001368	0	0
TBC1D8B	54885	broad.mit.edu	37	X	106066667	106066667	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:106066667C>T	ENST00000357242.5	+	5	972	c.798C>T	c.(796-798)gtC>gtT	p.V266V	TBC1D8B_ENST00000310452.2_Silent_p.V266V|TBC1D8B_ENST00000276175.3_Silent_p.V266V|TBC1D8B_ENST00000481617.2_Silent_p.V266V	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	266						intracellular	calcium ion binding|Rab GTPase activator activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ATGACCCAGTCCTTTATAATC	0.323000													31	71					0	0	0.009535	0	0
PNMAL2	57469	broad.mit.edu	37	19	46997226	46997226	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:46997226G>A	ENST00000599531.1	-	1	2529	c.1497C>T	c.(1495-1497)tcC>tcT	p.S499S	PNMAL2_ENST00000377655.2_Intron|PNMAL2_ENST00000594749.1_Intron	NM_020709.1	NP_065760.1	Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2	499										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		ACCCCTCGTTGGACCCCATGT	0.627000													36	74					0	0	0.002852	0	0
SEMG1	6406	broad.mit.edu	37	20	43837241	43837241	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:43837241G>A	ENST00000372781.3	+	2	1360	c.1303G>A	c.(1303-1305)Gat>Aat	p.D435N	SEMG1_ENST00000244069.6_Missense_Mutation_p.D375N	NM_003007.3	NP_002998.1			semenogelin I											cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TGGGGGATTGGATATTGTAAT	0.403000													19	52					0	0	0.002780	0	0
NLRP2	55655	broad.mit.edu	37	19	55501423	55501423	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:55501423G>A	ENST00000543010.1	+	9	2543	c.2400G>A	c.(2398-2400)tgG>tgA	p.W800*	NLRP2_ENST00000537859.1_Nonsense_Mutation_p.W778*|NLRP2_ENST00000448584.2_Nonsense_Mutation_p.W800*|NLRP2_ENST00000339757.7_Nonsense_Mutation_p.W778*|NLRP2_ENST00000427260.2_Nonsense_Mutation_p.W777*|NLRP2_ENST00000538819.1_Nonsense_Mutation_p.W776*|NLRP2_ENST00000391721.4_Nonsense_Mutation_p.W776*|NLRP2_ENST00000263437.6_Nonsense_Mutation_p.W797*	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	800					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CTCAGCAGTGGGCTGATCTCT	0.488000													36	79					0	0	0.006230	0	0
LRP1	4035	broad.mit.edu	37	12	57573329	57573329	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:57573329C>T	ENST00000243077.3	+	29	5422	c.4956C>T	c.(4954-4956)gtC>gtT	p.V1652V		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1652					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGGAGACAGTCGTCTCTGCAG	0.627000													10	28					0	0	0.006214	0	0
APLP1	333	broad.mit.edu	37	19	36362175	36362175	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:36362175A>C	ENST00000221891.4	+	4	653	c.461A>C	c.(460-462)gAa>gCa	p.E154A	APLP1_ENST00000537454.2_Missense_Mutation_p.E115A|APLP1_ENST00000586861.1_Missense_Mutation_p.E148A	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	154					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTGGTGCCTGAAGGCTGCCGG	0.612000													4	16					0	0	0.000602	0	0
PGD	5226	broad.mit.edu	37	1	10477453	10477453	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:10477453C>T	ENST00000538557.1	+	10	1201	c.957C>T	c.(955-957)atC>atT	p.I319I	PGD_ENST00000541529.1_Silent_p.I310I|PGD_ENST00000498356.1_3'UTR|PGD_ENST00000270776.8_Silent_p.I332I			P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	332					pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)		CTTCCAAGATCATCTCTTACG	0.507000													65	73					0	0	0.003610	0	0
BRWD3	254065	broad.mit.edu	37	X	79942376	79942376	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:79942376G>A	ENST00000373275.4	-	35	4207	c.3991C>T	c.(3991-3993)Ctt>Ttt	p.L1331F	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1331	Bromo 2.									breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TAAGAAAGAAGATCAGCTGGC	0.358000													16	44					0	0	0.004007	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36197713	36197713	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:36197713A>G	ENST00000258840.6	-	13	1981	c.1591T>C	c.(1591-1593)Ttt>Ctt	p.F531L	RALGAPA1_ENST00000389698.3_Missense_Mutation_p.F531L|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.F531L|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.F531L|RALGAPA1_ENST00000554704.1_5'UTR			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	531					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TTTATAATAAACACCTAAGAC	0.299000													8	21					0	0	0.004482	0	0
CCR2	729230	broad.mit.edu	37	3	46399689	46399689	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:46399689G>A	ENST00000292301.4	+	2	1156	c.671G>A	c.(670-672)gGa>gAa	p.G224E	CCR2_ENST00000445132.2_Missense_Mutation_p.G224E|CCR2_ENST00000465202.1_3'UTR|CCR2_ENST00000400888.2_Missense_Mutation_p.G224E	NM_001123041.2	NP_001116513.2	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	224					astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		TGCTACTCGGGAATCCTGAAA	0.473000													118	242					0	0	0.003610	0	0
CHD4	1108	broad.mit.edu	37	12	6687654	6687654	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:6687654G>A	ENST00000309577.6	-	34	5287	c.5124C>T	c.(5122-5124)ccC>ccT	p.P1708P	CHD4_ENST00000544484.1_Silent_p.P1705P|CHD4_ENST00000357008.2_Silent_p.P1680P|CHD4_ENST00000544040.1_Silent_p.P1673P			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1680	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TCAGGTCCTTGGGGGTCTCTC	0.408000													22	28					0	0	0.001882	0	0
EPHA6	285220	broad.mit.edu	37	3	97311571	97311571	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:97311571G>A	ENST00000389672.5	+	12	2540	c.2502G>A	c.(2500-2502)agG>agA	p.R834R	EPHA6_ENST00000442602.2_Silent_p.R200R|EPHA6_ENST00000502694.1_Silent_p.R226R|EPHA6_ENST00000514100.1_Silent_p.R226R	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	739	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						TGCCCCCCAGGATTCCTGCTG	0.507000													6	35					0	0	0.001984	0	0
MYO16	23026	broad.mit.edu	37	13	109445940	109445940	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr13:109445940A>T	ENST00000356711.2	+	6	753	c.627A>T	c.(625-627)ttA>ttT	p.L209F	MYO16_ENST00000251041.5_Missense_Mutation_p.L209F|MYO16_ENST00000357550.2_Missense_Mutation_p.L209F	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	209					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			AACACTTCTTATCATCTGGAG	0.388000													15	39					0	0	0.004990	0	0
LLGL2	3993	broad.mit.edu	37	17	73566310	73566310	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:73566310C>T	ENST00000392550.3	+	15	1965	c.1848C>T	c.(1846-1848)caC>caT	p.H616H	LLGL2_ENST00000167462.5_Silent_p.H616H|LLGL2_ENST00000577200.1_Silent_p.H616H	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	616					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			TCTTTGACCACCAGCAGCGGC	0.672000													4	17					0	0	0.009096	0	0
HEPH	9843	broad.mit.edu	37	X	65478819	65478819	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:65478819C>T	ENST00000519389.1	+	18	3375	c.3196C>T	c.(3196-3198)Cgg>Tgg	p.R1066W	HEPH_ENST00000336279.5_Missense_Mutation_p.R745W|HEPH_ENST00000374727.3_Missense_Mutation_p.R1015W|HEPH_ENST00000441993.2_Missense_Mutation_p.R1015W|HEPH_ENST00000343002.2_Missense_Mutation_p.R1012W|HEPH_ENST00000419594.1_Missense_Mutation_p.R823W			Q9BQS7	HEPH_HUMAN	hephaestin	1012	Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CTTCCTCTATCGGGTGAGCTG	0.468000													9	25					0	0	0.008291	0	0
ZNF560	147741	broad.mit.edu	37	19	9584930	9584930	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:9584930C>T	ENST00000301480.4	-	4	315	c.102G>A	c.(100-102)caG>caA	p.Q34Q		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	34	KRAB 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						ATAAGTTTCTCTGAACTGGGT	0.433000													23	53					0	0	0.002299	0	0
CCDC66	285331	broad.mit.edu	37	3	56627593	56627593	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:56627593C>T	ENST00000394672.3	+	9	1213	c.1143C>T	c.(1141-1143)ttC>ttT	p.F381F	CCDC66_ENST00000326595.7_Silent_p.F347F|CCDC66_ENST00000436465.2_Silent_p.F381F	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	381										breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		CTCAGCTGTTCTCTCAGTCAA	0.443000													12	26					0	0	0.001368	0	0
AKAP8	10270	broad.mit.edu	37	19	15483971	15483971	+	Silent	SNP	A	A	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:15483971A>G	ENST00000269701.2	-	5	612	c.552T>C	c.(550-552)gaT>gaC	p.D184D		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	184					signal transduction	nuclear matrix				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						GCATGAAGCCATCAAGGGAGC	0.682000													17	45					0	0	0.010504	0	0
DYSF	8291	broad.mit.edu	37	2	71895908	71895908	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:71895908C>T	ENST00000258104.3	+	48	5642	c.5365C>T	c.(5365-5367)Cta>Tta	p.L1789L	DYSF_ENST00000429174.2_Silent_p.L1810L|DYSF_ENST00000413539.2_Silent_p.L1820L|DYSF_ENST00000409651.1_Silent_p.L1821L|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409366.1_Silent_p.L1811L|DYSF_ENST00000410020.3_Silent_p.L1828L|DYSF_ENST00000409762.1_Silent_p.L1806L|DYSF_ENST00000409582.3_Silent_p.L1827L|DYSF_ENST00000394120.2_Silent_p.L1790L|DYSF_ENST00000409744.1_Silent_p.L1797L|DYSF_ENST00000410041.1_Silent_p.L1807L	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1789						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GTGGGTCGACCTATTTCCGAA	0.612000													12	21					0	0	0.001368	0	0
FARP1	10160	broad.mit.edu	37	13	99047565	99047565	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr13:99047565G>A	ENST00000376586.2	+	13	1585	c.1249G>A	c.(1249-1251)Gtt>Att	p.V417I	FARP1_ENST00000319562.6_Missense_Mutation_p.V417I|FARP1_ENST00000595437.1_Missense_Mutation_p.V417I			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	417					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			GGAACCGAAGGTTTCCGCCGG	0.692000													21	32					0	0	0.001882	0	0
DMD	1756	broad.mit.edu	37	X	31697516	31697516	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:31697516G>A	ENST00000357033.4	-	53	8054	c.7848C>T	c.(7846-7848)atC>atT	p.I2616I	DMD_ENST00000474231.1_Silent_p.I156I|DMD_ENST00000343523.2_Silent_p.I156I|DMD_ENST00000378677.2_Silent_p.I2612I|DMD_ENST00000359836.1_Silent_p.I156I|DMD_ENST00000541735.1_Silent_p.I156I|DMD_ENST00000378707.3_Silent_p.I156I	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2616					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTTTCTTTTGGATTGCATCTA	0.373000													3	12					0	0	0.009096	0	0
MUC6	4588	broad.mit.edu	37	11	1016881	1016881	+	Missense_Mutation	SNP	C	C	T	rs71472140		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:1016881C>T	ENST00000421673.2	-	31	5970	c.5920G>A	c.(5920-5922)Ggg>Agg	p.G1974R		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1974	Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGACTGCTCCCTGTAGGTGGG	0.587000													17	645					0	0	0.002852	0	0
POLR1A	25885	broad.mit.edu	37	2	86265830	86265830	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:86265830C>T	ENST00000263857.6	-	27	4405	c.4027G>A	c.(4027-4029)Gaa>Aaa	p.E1343K	POLR1A_ENST00000409681.1_Missense_Mutation_p.E1343K			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1343					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GACCTTGTTTCCATGAAGCGC	0.532000													17	25					0	0	0.006122	0	0
DPP3	10072	broad.mit.edu	37	11	66260349	66260349	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:66260349C>T	ENST00000532677.1	+	10	1609	c.1208C>T	c.(1207-1209)tCc>tTc	p.S403F	DPP3_ENST00000533799.1_3'UTR|DPP3_ENST00000541961.1_Missense_Mutation_p.S384F|DPP3_ENST00000531863.1_Missense_Mutation_p.S404F|DPP3_ENST00000360510.2_Missense_Mutation_p.S384F|DPP3_ENST00000453114.1_Missense_Mutation_p.S384F|DPP3_ENST00000530165.1_Missense_Mutation_p.S354F	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	384					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						TTCGCTGGCTCCGGCATCCCT	0.612000													25	40					0	0	0.002096	0	0
CT47B1	643311	broad.mit.edu	37	X	120009248	120009248	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:120009248C>T	ENST00000371311.3	-	1	531	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	93	Poly-Glu.									breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						tcctcctcttcctccGTCGCG	0.701000													15	34					0	0	0.002450	0	0
LMF1	64788	broad.mit.edu	37	16	1004443	1004443	+	Silent	SNP	G	G	A	rs139825245	by1000genomes	TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:1004443G>A	ENST00000262301.11	-	2	435	c.417C>T	c.(415-417)ttC>ttT	p.F139F	LMF1_ENST00000568897.1_5'UTR|LMF1_ENST00000399843.2_Silent_p.F139F|LMF1_ENST00000539379.1_Silent_p.F132F|LMF1_ENST00000543238.1_Intron	NM_022773.2	NP_073610.2	Q96S06	LMF1_HUMAN	lipase maturation factor 1	139						endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	18		Hepatocellular(780;0.00308)				TGATCAGTACGAAAGACGAGA	0.557000													11	20					0	0	0.008291	0	0
FEZF1	389549	broad.mit.edu	37	7	121944265	121944265	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:121944265G>A	ENST00000442488.2	-	1	294	c.227C>T	c.(226-228)cCc>cTc	p.P76L	FEZF1_ENST00000427185.2_Missense_Mutation_p.P76L|FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000331178.4_Missense_Mutation_p.P76L	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	76					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						AGGCACGAAGGGGATCATGCA	0.687000													13	53					0	0	0.001368	0	0
CXorf36	79742	broad.mit.edu	37	X	45011047	45011047	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:45011047G>A	ENST00000398000.2	-	5	1226	c.1152C>T	c.(1150-1152)tcC>tcT	p.S384S	CXorf36_ENST00000477281.1_5'UTR	NM_176819.3	NP_789789.2	Q9H7Y0	CX036_HUMAN	chromosome X open reading frame 36	384						extracellular region				endometrium(1)|large_intestine(2)|lung(4)	7						GAACAAGGATGGAGTCTATGT	0.587000													20	41					0	0	0.007413	0	0
FLG	2312	broad.mit.edu	37	1	152286641	152286641	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:152286641C>T	ENST00000368799.1	-	3	756	c.721G>A	c.(721-723)Gat>Aat	p.D241N	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	241					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TAGGCTTCATCCTGGATTGTG	0.353000									Ichthyosis				84	89					0	0	0.003610	0	0
ANK1	286	broad.mit.edu	37	8	41583332	41583332	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:41583332G>A	ENST00000396942.1	-	6	642	c.559C>T	c.(559-561)Cgc>Tgc	p.R187C	ANK1_ENST00000379758.2_Missense_Mutation_p.R187C|ANK1_ENST00000396945.1_Missense_Mutation_p.R187C|ANK1_ENST00000289734.7_Missense_Mutation_p.R187C|ANK1_ENST00000352337.4_Missense_Mutation_p.R187C|ANK1_ENST00000265709.8_Missense_Mutation_p.R220C|ANK1_ENST00000347528.4_Missense_Mutation_p.R187C			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	187	89 kDa 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)			GCAGCCGTGCGCGTGTCGTCG	0.697000													5	19					0	0	0.001168	0	0
DHDDS	79947	broad.mit.edu	37	1	26769298	26769298	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:26769298C>T	ENST00000360009.2	+	4	334	c.257C>T	c.(256-258)tCc>tTc	p.S86F	DHDDS_ENST00000236342.7_Missense_Mutation_p.S86F|DHDDS_ENST00000374185.3_Missense_Mutation_p.S86F|DHDDS_ENST00000526219.1_Missense_Mutation_p.S86F|DHDDS_ENST00000525682.2_Missense_Mutation_p.S86F|DHDDS_ENST00000427245.2_Missense_Mutation_p.S86F|DHDDS_ENST00000531955.1_3'UTR	NM_024887.3|NM_205861.2	NP_079163.2|NP_995583.1	Q86SQ9	DHDDS_HUMAN	dehydrodolichyl diphosphate synthase	86							protein binding|transferase activity, transferring alkyl or aryl (other than methyl) groups			breast(5)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	15		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)		TTCAAACGCTCCAAGAGTGAG	0.522000													35	74					0	0	0.005524	0	0
EMC1	23065	broad.mit.edu	37	1	19568942	19568942	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:19568942G>A	ENST00000477853.1	-	5	448	c.406C>T	c.(406-408)Ctg>Ttg	p.L136L	EMC1_ENST00000375208.3_Silent_p.L114L|EMC1_ENST00000375199.3_Silent_p.L136L	NM_001271428.1|NM_015047.1	NP_001258357.1|NP_055862.1			ER membrane protein complex subunit 1																		GACTCCTGCAGGCCAACCAGC	0.557000													15	26					0	0	0.004990	0	0
TRPM8	79054	broad.mit.edu	37	2	234851238	234851238	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:234851238G>A	ENST00000324695.4	+	6	585	c.545G>A	c.(544-546)gGa>gAa	p.G182E	TRPM8_ENST00000433712.2_5'UTR|TRPM8_ENST00000409625.1_Missense_Mutation_p.G105E|TRPM8_ENST00000355722.4_Missense_Mutation_p.G132E	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	182						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	ATTCTCACGGGAGGCACCCAT	0.483000													27	87					0	0	0.005443	0	0
GIMAP1	170575	broad.mit.edu	37	7	150417327	150417327	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:150417327G>A	ENST00000307194.5	+	3	375	c.235G>A	c.(235-237)Gaa>Aaa	p.E79K		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1									p.E79K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTGCCACGTGGAAGTCGTGGA	0.637000													24	72					0	0	0.002780	0	0
FAM19A4	151647	broad.mit.edu	37	3	68802049	68802049	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:68802049G>A	ENST00000295569.7	-	4	743	c.251C>T	c.(250-252)gCg>gTg	p.A84V		NM_001005527.2|NM_182522.4	NP_001005527.1|NP_872328.1	Q96LR4	F19A4_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A4	84						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(5)|skin(2)	10		Lung NSC(201;0.0198)		BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904)		AGTTGTGCCCGCCACCTGTCC	0.542000													23	44					0	0	0.005443	0	0
TRBV4-2	28616	broad.mit.edu	37	7	142045758	142045758	+	RNA	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:142045758C>T	ENST00000390392.3	+	0	397																											CTTATTCCTTCACCTACACAC	0.498000													40	201					0	0	0.003610	0	0
GLDN	342035	broad.mit.edu	37	15	51696816	51696816	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:51696816C>G	ENST00000335449.6	+	10	1577	c.1521C>G	c.(1519-1521)aaC>aaG	p.N507K	GLDN_ENST00000396399.2_Missense_Mutation_p.N383K	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	507	Olfactomedin-like.				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		TCAATGCAAACTTTGATTTAA	0.403000													40	75					0	0	0.006230	0	0
TTN	7273	broad.mit.edu	37	2	179439256	179439256	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:179439256C>T	ENST00000589042.1	-	326	71827	c.71603G>A	c.(71602-71604)cGa>cAa	p.R23868Q	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R14995Q|TTN_ENST00000591111.1_Missense_Mutation_p.R22227Q|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R14928Q|TTN_ENST00000460472.2_Missense_Mutation_p.R14803Q|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R21300Q|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22227	Ig-like 120.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R14803Q(1)|p.R21298Q(1)|p.R14928Q(1)|p.R14995Q(1)		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)			AATACCATTTCGTTCTTTTCT	0.418000													59	142					0	0	0.003610	0	0
PHF14	9678	broad.mit.edu	37	7	11022442	11022442	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:11022442C>T	ENST00000403050.3	+	3	1008	c.556C>T	c.(556-558)Cga>Tga	p.R186*	PHF14_ENST00000445996.2_Intron	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	186							zinc ion binding			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		ATGGAACCTTCGACGAAACCG	0.483000													12	34					0	0	0.001855	0	0
CSMD1	64478	broad.mit.edu	37	8	3443759	3443759	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:3443759G>A	ENST00000520002.1	-	10	1679	c.1124C>T	c.(1123-1125)tCa>tTa	p.S375L	CSMD1_ENST00000602723.1_Missense_Mutation_p.S375L|CSMD1_ENST00000400186.3_Missense_Mutation_p.S375L|CSMD1_ENST00000602557.1_Missense_Mutation_p.S375L|CSMD1_ENST00000542608.1_Missense_Mutation_p.S374L|CSMD1_ENST00000539096.1_Missense_Mutation_p.S374L|CSMD1_ENST00000537824.1_Missense_Mutation_p.S374L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	375	Sushi 2.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTCCTCACATGAAAACTGTAC	0.408000													7	15					0	0	0.003080	0	0
NLRP8	126205	broad.mit.edu	37	19	56481950	56481950	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:56481950C>T	ENST00000291971.3	+	6	2493	c.2422C>T	c.(2422-2424)Ctt>Ttt	p.L808F	NLRP8_ENST00000590542.1_Missense_Mutation_p.L808F	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	808						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TTGGACTGATCTTGGCAATAA	0.478000													42	122					0	0	0.007835	0	0
RABEPK	10244	broad.mit.edu	37	9	127994991	127994991	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:127994991G>A	ENST00000373538.3	+	7	1103	c.793G>A	c.(793-795)Gga>Aga	p.G265R	RABEPK_ENST00000259460.8_Missense_Mutation_p.G214R|RABEPK_ENST00000394124.4_3'UTR|RABEPK_ENST00000394125.4_Missense_Mutation_p.G265R	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	265					receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						GACTCCTGCAGGAGCACTGGA	0.507000													11	30					0	0	0.001368	0	0
SCO1	6341	broad.mit.edu	37	17	10590109	10590109	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:10590109G>A	ENST00000255390.5	-	5	766	c.706C>T	c.(706-708)Caa>Taa	p.Q236*	SCO1_ENST00000577427.1_Nonsense_Mutation_p.Q205*	NM_004589.2	NP_004580.1	O75880	SCO1_HUMAN	SCO1 cytochrome c oxidase assembly protein	236					cellular copper ion homeostasis|copper ion transport|generation of precursor metabolites and energy|respiratory chain complex IV assembly	mitochondrial inner membrane	copper ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	10						CTGGCCACTTGATCGACCTCT	0.433000													42	89					0	0	0.002852	0	0
CYP4F22	126410	broad.mit.edu	37	19	15651427	15651427	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:15651427C>T	ENST00000269703.2	+	8	1037	c.838C>T	c.(838-840)Cag>Tag	p.Q280*	CYP4F22_ENST00000601005.2_Nonsense_Mutation_p.Q280*	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	280						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						TGAAGTCATCCAGGAACGGCG	0.612000													25	71					0	0	0.004656	0	0
ENTHD1	150350	broad.mit.edu	37	22	40140246	40140246	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr22:40140246G>A	ENST00000325157.6	-	7	1512	c.1262C>T	c.(1261-1263)tCc>tTc	p.S421F		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	421										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					AGATGACATGGATAAAGGAGA	0.413000													13	38					0	0	0.002450	0	0
CSF2RA	1438	broad.mit.edu	37	X	1407431	1407431	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:1407431C>T	ENST00000381524.3	+	5	425	c.239C>T	c.(238-240)tCg>tTg	p.S80L	CSF2RA_ENST00000355805.2_Missense_Mutation_p.S80L|CSF2RA_ENST00000361536.3_Missense_Mutation_p.S80L|CSF2RA_ENST00000355432.3_Missense_Mutation_p.S80L|CSF2RA_ENST00000501036.2_5'UTR|CSF2RA_ENST00000432318.2_Missense_Mutation_p.S80L|CSF2RA_ENST00000417535.2_Missense_Mutation_p.S80L|CSF2RA_ENST00000381529.3_Missense_Mutation_p.S80L|CSF2RA_ENST00000381509.3_Missense_Mutation_p.S80L|CSF2RA_ENST00000381500.1_Missense_Mutation_p.S80L			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	80						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	AACGAATGTTCGTGCACATTT	0.443000													82	210					0	0	0.003610	0	0
FCGBP	8857	broad.mit.edu	37	19	40419615	40419615	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:40419615T>A	ENST00000221347.6	-	6	3386	c.3379A>T	c.(3379-3381)Agg>Tgg	p.R1127W		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1127						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)			TCTTCACTCCTCCAGGGGTGC	0.512000													33	83					0	0	0.005524	0	0
TNS1	7145	broad.mit.edu	37	2	218713465	218713465	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:218713465G>A	ENST00000171887.4	-	17	1852	c.1400C>T	c.(1399-1401)cCa>cTa	p.P467L	TNS1_ENST00000419504.1_Missense_Mutation_p.P467L|TNS1_ENST00000430930.1_Missense_Mutation_p.P467L|TNS1_ENST00000480665.1_5'UTR	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	467						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GCCCCCTGCTGGGCGGGACCT	0.642000													20	78					0	0	0.003954	0	0
TM9SF2	9375	broad.mit.edu	37	13	100190110	100190110	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr13:100190110C>T	ENST00000376387.4	+	6	899	c.709C>T	c.(709-711)Ccg>Tcg	p.P237S	TM9SF2_ENST00000463709.1_3'UTR	NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	237					transport	endosome membrane|integral to plasma membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					TAAACTTGAACCGAAAAGGTA	0.318000													4	18					0	0	0.001984	0	0
SLC25A13	10165	broad.mit.edu	37	7	95799394	95799394	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:95799394G>A	ENST00000416240.2	-	13	1467	c.1277C>T	c.(1276-1278)tCg>tTg	p.S426L	SLC25A13_ENST00000265631.5_Missense_Mutation_p.S425L|SLC25A13_ENST00000542654.1_Missense_Mutation_p.S317L	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	425					ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity	p.S425L(1)		breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	AAGTGGGACCGAACCATCTTT	0.353000													23	81					0	0	0.003954	0	0
XAF1	54739	broad.mit.edu	37	17	6674121	6674121	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:6674121C>T	ENST00000361842.3	+	6	906	c.667C>T	c.(667-669)Cat>Tat	p.H223Y	XAF1_ENST00000441631.1_Missense_Mutation_p.H223Y|XAF1_ENST00000346752.4_Missense_Mutation_p.H204Y	NM_017523.3	NP_059993.2	Q6GPH4	XAF1_HUMAN	XIAP associated factor 1	223					apoptosis|type I interferon-mediated signaling pathway	mitochondrion|nucleus	zinc ion binding			large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	6						ATTTCCTCTTCATTCTGAAAG	0.428000													10	22					0	0	0.000978	0	0
CRNKL1	51340	broad.mit.edu	37	20	20028529	20028529	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:20028529C>T	ENST00000377340.2	-	6	1016	c.985G>A	c.(985-987)Gcc>Acc	p.A329T	CRNKL1_ENST00000377327.4_Missense_Mutation_p.A317T|CRNKL1_ENST00000536226.1_Missense_Mutation_p.A168T	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	329					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						ACCTGCCGGGCACCGGCAACG	0.502000													16	37					0	0	0.003163	0	0
MYH4	4622	broad.mit.edu	37	17	10352194	10352194	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:10352194C>T	ENST00000255381.2	-	31	4462	c.4352G>A	c.(4351-4353)aGa>aAa	p.R1451K	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1451					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GTCAAAGTTTCTTTGCTTCTT	0.438000													28	61					0	0	0.006320	0	0
ENOX2	10495	broad.mit.edu	37	X	129804108	129804108	+	Silent	SNP	G	G	A	rs140378068		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:129804108G>A	ENST00000338144.3	-	8	1029	c.612C>T	c.(610-612)ttC>ttT	p.F204F	ENOX2_ENST00000394363.1_Silent_p.F175F|ENOX2_ENST00000370935.1_Silent_p.F175F|ENOX2_ENST00000370927.1_Silent_p.F204F	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	204	RRM.				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						GAGCCTGTGCGAAATCAACGT	0.522000													21	29					0	0	0.001882	0	0
BRINP3	339479	broad.mit.edu	37	1	190067969	190067969	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:190067969C>T	ENST00000367462.3	-	8	1711	c.1480G>A	c.(1480-1482)Gat>Aat	p.D494N	FAM5C_ENST00000534846.1_Missense_Mutation_p.D392N|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		494						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					ATCTCGAGATCTTGCAGGTCA	0.502000													48	74					0	0	0.003610	0	0
PRSS1	5644	broad.mit.edu	37	7	142459673	142459673	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:142459673G>A	ENST00000486171.1	+	4	308	c.291G>A	c.(289-291)ggG>ggA	p.G97G	PRSS1_ENST00000311737.7_Silent_p.G83G			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	83	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			TCCTGGAGGGGAATGAGCAGT	0.547000													45	233					0	0	0.003214	0	0
CDH20	28316	broad.mit.edu	37	18	59157792	59157792	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:59157792G>A	ENST00000262717.4	+	2	404	c.6G>A	c.(4-6)tgG>tgA	p.W2*	CDH20_ENST00000536675.2_Nonsense_Mutation_p.W2*|CDH20_ENST00000538374.1_Nonsense_Mutation_p.W2*			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	2					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				ATCCCATGTGGACTTCTGGTA	0.423000													27	65					0	0	0.002445	0	0
TMEM100	55273	broad.mit.edu	37	17	53798339	53798339	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:53798339G>A	ENST00000575734.1	-	4	901	c.93C>T	c.(91-93)atC>atT	p.I31I	TMEM100_ENST00000424486.2_Silent_p.I31I	NM_001099640.1	NP_001093110.1	Q9NV29	TM100_HUMAN	transmembrane protein 100	31						integral to membrane				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	11						GGACTGTGGTGATCACAACTT	0.537000													58	98					0	0	0.003610	0	0
ASIC4	55515	broad.mit.edu	37	2	220396587	220396587	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:220396587C>T	ENST00000358078.4	+	2	1085	c.1071C>T	c.(1069-1071)atC>atT	p.I357I	ASIC4_ENST00000347842.3_Silent_p.I357I|ASIC4_ENST00000473709.1_3'UTR			Q96FT7	ACCN4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	357						integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity										TGCTGGACATCCAGCAGGAGG	0.662000													47	90					0	0	0.003610	0	0
ANXA2	302	broad.mit.edu	37	15	60653147	60653147	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:60653147G>A	ENST00000396024.3	-	6	509	c.350C>T	c.(349-351)tCc>tTc	p.S117F	ANXA2_ENST00000451270.2_Missense_Mutation_p.S117F|ANXA2_ENST00000421017.2_Missense_Mutation_p.S117F|ANXA2_ENST00000332680.4_Missense_Mutation_p.S135F	NM_001136015.2	NP_001129487.1	P07355	ANXA2_HUMAN	annexin A2	117					angiogenesis|positive regulation of vesicle fusion|skeletal system development	basement membrane|melanosome|midbody|soluble fraction	calcium ion binding|calcium-dependent phospholipid binding|cytoskeletal protein binding|phospholipase inhibitor activity			kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9					Alteplase(DB00009)|Anistreplase(DB00029)|Tenecteplase(DB00031)	TACCTTCATGGAAGCTTTTAG	0.418000													6	21					0	0	0.001168	0	0
KLK9	284366	broad.mit.edu	37	19	51509946	51509946	+	Silent	SNP	G	G	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:51509946G>T	ENST00000376832.4	-	3	267	c.234C>A	c.(232-234)ctC>ctA	p.L78L	CTB-147C22.9_ENST00000594512.1_RNA|KLK9_ENST00000594211.1_Silent_p.L78L|KLK9_ENST00000250366.6_Silent_p.L78L	NM_012315.1	NP_036447.1	Q9UKQ9	KLK9_HUMAN	kallikrein-related peptidase 9	78	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7		all_neural(266;0.0652)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		CCCATTTCCAGAGGTGGTGCT	0.582000													14	23					1.5842e-08	1.60887e-08	0.001855	1	0
NXPE1	120400	broad.mit.edu	37	11	114401355	114401355	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:114401355C>T	ENST00000536312.1	-	6	1267	c.375G>A	c.(373-375)agG>agA	p.R125R	NXPE1_ENST00000424269.1_Silent_p.R125R|NXPE1_ENST00000251921.2_5'UTR					neurexophilin and PC-esterase domain family, member 1																		CCAAGTGGTCCCTCACCTCCA	0.572000													12	23					0	0	0.000978	0	0
C10orf120	399814	broad.mit.edu	37	10	124457628	124457628	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:124457628C>T	ENST00000329446.4	-	3	660	c.629G>A	c.(628-630)cGa>cAa	p.R210Q		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	210										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				GTCTTCCTTTCGTCTGGCCTT	0.433000													32	15					0	0	0.008361	0	0
ANKLE1	126549	broad.mit.edu	37	19	17394615	17394615	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:17394615G>A	ENST00000394458.3	+	5	1318	c.1042G>A	c.(1042-1044)Gaa>Aaa	p.E348K	ANKLE1_ENST00000404085.1_Missense_Mutation_p.E370K|ANKLE1_ENST00000433424.2_Missense_Mutation_p.E402K|ANKLE1_ENST00000598347.1_Missense_Mutation_p.E348K|ANKLE1_ENST00000594072.1_Missense_Mutation_p.E337K	NM_152363.4	NP_689576.4	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	348						nuclear envelope				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						AGGTGGCAGGGAACCTGTCGG	0.582000													12	39					0	0	0.001368	0	0
NOD1	10392	broad.mit.edu	37	7	30492118	30492118	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:30492118C>T	ENST00000222823.4	-	6	1440	c.915G>A	c.(913-915)tgG>tgA	p.W305*	NOD1_ENST00000423334.2_3'UTR	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	305	NACHT.				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|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	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						GGGCAGGCTCCCAGGGGCAGG	0.667000													11	22					0	0	0.008291	0	0
HTT	3064	broad.mit.edu	37	4	3215735	3215735	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:3215735C>T	ENST00000355072.5	+	50	6970	c.6825C>T	c.(6823-6825)ctC>ctT	p.L2275L		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	2275					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GTCTGGATCTCCAGGCAGGGC	0.597000													20	37					0	0	0.008871	0	0
KRTAP10-10	353333	broad.mit.edu	37	21	46057600	46057600	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr21:46057600C>T	ENST00000380095.1	+	1	328	c.266C>T	c.(265-267)cCc>cTc	p.P89L	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	89	15 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						ACCTCCTCCCcctgccagcag	0.637000													31	87					0	0	0.002836	0	0
RHPN2	85415	broad.mit.edu	37	19	33493752	33493752	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:33493752G>A	ENST00000254260.3	-	8	950	c.915C>T	c.(913-915)ttC>ttT	p.F305F	RHPN2_ENST00000400226.4_Silent_p.F154F	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	305	BRO1.				signal transduction	perinuclear region of cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					TCACCAGCATGAAGAATTCAT	0.547000													15	53					0	0	0.006122	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24249837	24249837	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:24249837C>T	ENST00000256412.4	+	2	371	c.151C>T	c.(151-153)Cac>Tac	p.H51Y	RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000538205.1_5'UTR|ADAMDEC1_ENST00000522298.1_Intron	NM_014479.3	NP_055294.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	51					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		TAAAAAACTTCACATTTTACA	0.343000													10	27					0	0	0.008291	0	0
NXPE2	120406	broad.mit.edu	37	11	114568808	114568808	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:114568808G>A	ENST00000375475.5	+	3	272	c.174G>A	c.(172-174)ggG>ggA	p.G58G	NXPE2_ENST00000389586.4_Silent_p.G58G					neurexophilin and PC-esterase domain family, member 2																		TGAACCAAGGGAACATCTTCA	0.358000													2	1					0	0	0.004672	0	0
GFOD1	54438	broad.mit.edu	37	6	13365764	13365764	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:13365764G>A	ENST00000379287.3	-	2	1048	c.384C>T	c.(382-384)ttC>ttT	p.F128F	GFOD1_ENST00000379284.1_Silent_p.F25F	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain containing 1	128						extracellular region	binding|oxidoreductase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			TCATGCGCACGAAAGCCGGCA	0.647000													25	54					0	0	0.004656	0	0
TRBV10-1	28585	broad.mit.edu	37	7	142231673	142231673	+	RNA	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:142231673C>T	ENST00000390364.3	-	0	311																											ACACTGTAGCCATCTGAGACT	0.498000													37	189					0	0	0.004878	0	0
PSAT1	29968	broad.mit.edu	37	9	80919745	80919745	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:80919745G>A	ENST00000376588.3	+	4	354	c.286G>A	c.(286-288)Gga>Aga	p.G96R	PSAT1_ENST00000347159.2_Missense_Mutation_p.G96R	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1	96					L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)	CTTGAAAGCAGGAAGGTGTGC	0.498000													35	75					0	0	0.004289	0	0
KDR	3791	broad.mit.edu	37	4	55964401	55964401	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:55964401G>A	ENST00000263923.4	-	17	2707	c.2412C>T	c.(2410-2412)atC>atT	p.I804I		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	804					angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	GATCCATGACGATGGACAAGT	0.483000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			17	33					0	0	0.004990	0	0
BEST3	144453	broad.mit.edu	37	12	70049370	70049370	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:70049370T>A	ENST00000330891.5	-	10	1550	c.1324A>T	c.(1324-1326)Aac>Tac	p.N442Y	BEST3_ENST00000488961.1_Missense_Mutation_p.N229Y|BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Missense_Mutation_p.N336Y	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	442						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)			CTGGGGGGGTTTCTTGAGGGC	0.582000													26	61					0	0	0.004656	0	0
BMS1	9790	broad.mit.edu	37	10	43312104	43312104	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:43312104C>T	ENST00000374518.4	+	14	2450	c.2387C>T	c.(2386-2388)tCa>tTa	p.S796L		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	796					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AAGGGAAAATCAGGCCCCAAT	0.483000													8	37					0	0	0.006214	0	0
DNAJB11	51726	broad.mit.edu	37	3	186293723	186293723	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:186293723C>T	ENST00000439351.1	+	4	1249	c.320C>T	c.(319-321)tCa>tTa	p.S107L	DNAJB11_ENST00000265028.3_Missense_Mutation_p.S107L			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	107					protein folding	endoplasmic reticulum lumen	heat shock protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		GACATTTTTTCACAGTGAGTA	0.398000													15	31					0	0	0.003163	0	0
CPN2	1370	broad.mit.edu	37	3	194062955	194062955	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:194062955G>A	ENST00000323830.3	-	2	566	c.477C>T	c.(475-477)gcC>gcT	p.A159A	CPN2_ENST00000429275.1_Silent_p.A159A	NM_001080513.2	NP_001073982.2	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	159					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		TCCTGGGCAGGGCCTGGAGCT	0.632000													31	25					0	0	0.008361	0	0
SCN11A	11280	broad.mit.edu	37	3	38912214	38912214	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:38912214C>T	ENST00000302328.3	-	22	3979	c.3781G>A	c.(3781-3783)Gat>Aat	p.D1261N	SCN11A_ENST00000444237.2_Missense_Mutation_p.D1261N|SCN11A_ENST00000456224.3_Missense_Mutation_p.D1223N|SCN11A_ENST00000450244.1_Missense_Mutation_p.D1261N	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1261					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TATATAATATCCATCCAGCCC	0.403000													14	47					0	0	0.003163	0	0
SLC39A10	57181	broad.mit.edu	37	2	196545581	196545581	+	Missense_Mutation	SNP	T	T	C	rs148613196	byFrequency	TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:196545581T>C	ENST00000409086.3	+	2	1090	c.815T>C	c.(814-816)gTa>gCa	p.V272A	SLC39A10_ENST00000541054.1_Intron|SLC39A10_ENST00000359634.5_Missense_Mutation_p.V272A	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	272					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			CCTGATCGTGTACATAACCCA	0.423000													12	40					0	0	0.001368	0	0
ABAT	18	broad.mit.edu	37	16	8866690	8866690	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:8866690C>T	ENST00000396600.2	+	12	1808	c.870C>T	c.(868-870)atC>atT	p.I290I	ABAT_ENST00000425191.2_Silent_p.I290I|ABAT_ENST00000268251.8_Silent_p.I290I|ABAT_ENST00000569156.1_Silent_p.I290I|ABAT_ENST00000567812.1_Silent_p.I305I	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	290					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	TGGCCGGGATCATCGTGGAGC	0.557000													17	41					0	0	0.004007	0	0
COL6A2	1292	broad.mit.edu	37	21	47531982	47531982	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr21:47531982C>T	ENST00000300527.4	+	3	309	c.205C>T	c.(205-207)Cac>Tac	p.H69Y	COL6A2_ENST00000357838.4_Missense_Mutation_p.H69Y|COL6A2_ENST00000310645.5_Missense_Mutation_p.H69Y|COL6A2_ENST00000397763.1_Missense_Mutation_p.H69Y|COL6A2_ENST00000409416.1_Missense_Mutation_p.H69Y	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	69	Nonhelical region.|VWFA 1.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CCTGCTCTTCCACATGAAGCA	0.617000													15	45					0	0	0.003163	0	0
FLII	2314	broad.mit.edu	37	17	18150582	18150582	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:18150582G>A	ENST00000327031.4	-	21	2802	c.2577C>T	c.(2575-2577)ctC>ctT	p.L859L	FLII_ENST00000379450.4_Silent_p.L773L|FLII_ENST00000545457.2_Silent_p.L804L|FLII_ENST00000579294.1_Silent_p.L848L|FLII_ENST00000578558.1_Intron	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	859					multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					CCTTCCCGGAGAGACCCGGGC	0.617000													22	60					0	0	0.002780	0	0
UBE2D3	7323	broad.mit.edu	37	4	103723739	103723739	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:103723739G>A	ENST00000453744.2	-	5	690	c.177C>T	c.(175-177)gaC>gaT	p.D59D	UBE2D3_ENST00000505207.1_Silent_p.D30D|UBE2D3_ENST00000394804.2_Silent_p.D59D|UBE2D3_ENST00000321805.7_Silent_p.D59D|UBE2D3_ENST00000507845.1_Silent_p.D30D|UBE2D3_ENST00000338145.3_Silent_p.D59D|UBE2D3_ENST00000504211.1_Silent_p.D30D|UBE2D3_ENST00000343106.5_Silent_p.D59D|UBE2D3_ENST00000502404.1_Silent_p.D30D|UBE2D3_ENST00000394803.5_Silent_p.D59D|UBE2D3_ENST00000349311.8_Silent_p.D59D|UBE2D3_ENST00000357194.6_Silent_p.D61D|UBE2D3_ENST00000350435.7_Silent_p.D53D|UBE2D3_ENST00000394801.4_Silent_p.D59D	NM_181891.1	NP_871620.1	P61077	UB2D3_HUMAN	ubiquitin-conjugating enzyme E2D 3	59					apoptosis|BMP signaling pathway|DNA repair|negative regulation of type I interferon production|proteasomal ubiquitin-dependent protein catabolic process|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein monoubiquitination|transforming growth factor beta receptor signaling pathway	endosome membrane|plasma membrane	ATP binding|protein binding|ubiquitin-protein ligase activity			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.13e-08)		TGAAGGGGTAGTCTGTAGGAA	0.328000													38	62					0	0	0.003214	0	0
PNPLA5	150379	broad.mit.edu	37	22	44280191	44280191	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr22:44280191C>T	ENST00000216177.4	-	7	1116	c.984G>A	c.(982-984)cgG>cgA	p.R328R	PNPLA5_ENST00000597664.1_Silent_p.R328R|PNPLA5_ENST00000593866.1_Silent_p.R214R|PNPLA5_ENST00000381198.2_Silent_p.R214R	NM_138814.3	NP_620169.1	Q7Z6Z6	PLPL5_HUMAN	patatin-like phospholipase domain containing 5	328					lipid catabolic process		hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				AGCGGGCCCACCGGCTGGGAT	0.627000											OREG0026622	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	76					0	0	0.010504	0	0
EP300	2033	broad.mit.edu	37	22	41513565	41513565	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr22:41513565C>G	ENST00000263253.7	+	2	1688	c.469C>G	c.(469-471)Cca>Gca	p.P157A		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	157					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GATGAACAGTCCAGTAAATCA	0.507000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				12	34					0	0	0.001368	0	0
FGF5	2250	broad.mit.edu	37	4	81207613	81207613	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:81207613C>T	ENST00000312465.7	+	3	820	c.594C>T	c.(592-594)gcC>gcT	p.A198A	FGF5_ENST00000503413.1_3'UTR|FGF5_ENST00000456523.3_3'UTR	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	198					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						GAGGAAAAGCCAAACGAGGGT	0.458000													23	70					0	0	0.002299	0	0
TTN	7273	broad.mit.edu	37	2	179612600	179612600	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:179612600G>A	ENST00000360870.5	-	46	14749	c.14527C>T	c.(14527-14529)Cca>Tca	p.P4843S	TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	956	Ig-like 28.						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)			TGTTCACCTGGATTCTGTTGT	0.428000													13	38					0	0	0.003163	0	0
ABCC12	94160	broad.mit.edu	37	16	48119526	48119526	+	Missense_Mutation	SNP	C	C	T	rs139931213		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:48119526C>T	ENST00000311303.3	-	27	4151	c.3806G>A	c.(3805-3807)cGa>cAa	p.R1269Q	ABCC12_ENST00000448542.1_3'UTR|ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000532355.1_5'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1269	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				GAGAAGAGCTCGGGCCACACA	0.448000													14	69					0	0	0.004007	0	0
TFCP2L1	29842	broad.mit.edu	37	2	121995273	121995273	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:121995273G>A	ENST00000263707.5	-	10	1026	c.929C>T	c.(928-930)tCg>tTg	p.S310L		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	310					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					ATCCTGGATCGAAGCTGATGG	0.592000													18	52					0	0	0.006122	0	0
UPRT	139596	broad.mit.edu	37	X	74520769	74520769	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:74520769C>T	ENST00000373379.1	+	6	957	c.792C>T	c.(790-792)atC>atT	p.I264I	UPRT_ENST00000530743.1_Silent_p.I128I|UPRT_ENST00000373383.4_Silent_p.I264I			Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae)	264					nucleoside metabolic process	cytoplasm|nucleus				breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4)	18						CCAGTGTTATCATCCTACTCA	0.408000													22	47					0	0	0.003954	0	0
PDGFRB	5159	broad.mit.edu	37	5	149497194	149497194	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:149497194G>A	ENST00000261799.4	-	22	3593	c.3124C>T	c.(3124-3126)Ccc>Tcc	p.P1042S		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	1042					aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCTAGGCTGGGGGAACCCTCC	0.617000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								10	49					0	0	0.003163	0	0
ESM1	11082	broad.mit.edu	37	5	54281315	54281315	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:54281315G>A	ENST00000381405.4	-	1	176	c.31C>T	c.(31-33)Ctc>Ttc	p.L11F	ESM1_ENST00000381403.4_Missense_Mutation_p.L11F|ESM1_ENST00000598310.1_Intron	NM_007036.4	NP_008967.1	Q9NQ30	ESM1_HUMAN	endothelial cell-specific molecule 1	11					angiogenesis|regulation of cell growth	extracellular region	growth factor activity|insulin-like growth factor binding			breast(1)|kidney(1)|large_intestine(4)|lung(4)	10		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	Lung(15;0.23)			GCAGGCACGAGGAGCGTGGTC	0.602000													11	29					0	0	0.001368	0	0
AGAP4	119016	broad.mit.edu	37	10	46321421	46321421	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:46321421G>A	ENST00000448048.2	-	7	2059	c.1934C>T	c.(1933-1935)tCc>tTc	p.S645F		NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 4	645					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			central_nervous_system(1)|lung(1)|ovary(1)	3						CTCCTGGCTGGAGGCCTGCCG	0.582000													33	104					0	0	0.005524	0	0
LIG4	3981	broad.mit.edu	37	13	108861588	108861588	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr13:108861588C>T	ENST00000356922.4	-	2	2301	c.2029G>A	c.(2029-2031)Gac>Aac	p.D677N	LIG4_ENST00000442234.1_Missense_Mutation_p.D677N|LIG4_ENST00000405925.1_Missense_Mutation_p.D677N	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	677	BRCT 1.				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					TTCTCCAGGTCAGGCTTTGGC	0.388000								Non-homologous end-joining					17	33					0	0	0.006122	0	0
SKIV2L	6499	broad.mit.edu	37	6	31932030	31932030	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:31932030C>T	ENST00000375394.2	+	17	1995	c.1882C>T	c.(1882-1884)Ctg>Ttg	p.L628L	SKIV2L_ENST00000544581.1_Silent_p.L435L	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	628	Helicase C-terminal.					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						GTCAGAGCTCCTGAATCGCGG	0.592000													108	252					0	0	0.003610	0	0
OR2T2	401992	broad.mit.edu	37	1	248616210	248616210	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:248616210G>A	ENST00000342927.3	+	1	134	c.112G>A	c.(112-114)Gtg>Atg	p.V38M		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	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)			CATCTTTGTGGTGGCTATAAC	0.527000													34	206					0	0	0.003271	0	0
DOLPP1	57171	broad.mit.edu	37	9	131847310	131847310	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:131847310C>T	ENST00000372546.4	+	3	218	c.186C>T	c.(184-186)ttC>ttT	p.F62F	DOLPP1_ENST00000406974.3_Silent_p.F62F|DOLPP1_ENST00000540102.1_Intron	NM_020438.4	NP_065171.2	Q86YN1	DOPP1_HUMAN	dolichyldiphosphatase 1	62					dolichyl diphosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane	dolichyldiphosphatase activity			endometrium(3)|kidney(2)|lung(7)|skin(1)	13						AGATCTCCTTCCTTGGGGGCC	0.612000													18	33					0	0	0.006122	0	0
ADCY7	113	broad.mit.edu	37	16	50339454	50339454	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:50339454G>A	ENST00000394697.2	+	13	1976	c.1636G>A	c.(1636-1638)Gat>Aat	p.D546N	ADCY7_ENST00000254235.3_Missense_Mutation_p.D546N|ADCY7_ENST00000538642.1_Missense_Mutation_p.D546N|ADCY7_ENST00000537579.1_Intron|ADCY7_ENST00000566433.2_Missense_Mutation_p.D546N			P51828	ADCY7_HUMAN	adenylate cyclase 7	546					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|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|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	TGACTCGTACGATGACGAGAT	0.607000													50	117					0	0	0.003610	0	0
RXRA	6256	broad.mit.edu	37	9	137320993	137320993	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:137320993C>T	ENST00000540193.1	+	6	1582	c.659C>T	c.(658-660)tCc>tTc	p.S220F	RXRA_ENST00000481739.1_Missense_Mutation_p.S317F|RXRA_ENST00000356384.4_3'UTR			P19793	RXRA_HUMAN	retinoid X receptor, alpha	317	Hinge.				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	TCCCACCGCTCCATCGCCGTG	0.687000													32	81					0	0	0.004289	0	0
ZNF385D	79750	broad.mit.edu	37	3	21462713	21462713	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:21462713G>A	ENST00000281523.2	-	8	1699	c.1181C>T	c.(1180-1182)cCt>cTt	p.P394L		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	394						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						AATTTAGTAAGGAGCAAACAG	0.438000													5	16					0	0	0.001168	0	0
KIAA1109	84162	broad.mit.edu	37	4	123192757	123192757	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:123192757C>T	ENST00000264501.4	+	47	8451	c.8078C>T	c.(8077-8079)tCa>tTa	p.S2693L	KIAA1109_ENST00000388738.3_Missense_Mutation_p.S2693L|KIAA1109_ENST00000455637.1_Missense_Mutation_p.S2693L			Q2LD37	K1109_HUMAN	KIAA1109	2693					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ATTACAGTGTCAGAACAAAGT	0.373000													11	21					0	0	0.000978	0	0
INSR	3643	broad.mit.edu	37	19	7117304	7117304	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:7117304G>A	ENST00000341500.5	-	21	3915	c.3876C>T	c.(3874-3876)ttC>ttT	p.F1292F	INSR_ENST00000302850.5_Silent_p.F1304F	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	1304	Protein kinase.				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCTCGCTGTGGAAGAACGACA	0.567000													122	300					0	0	0.003610	0	0
BRIP1	83990	broad.mit.edu	37	17	59761459	59761459	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:59761459A>C	ENST00000259008.2	-	20	3215	c.2948T>G	c.(2947-2949)aTt>aGt	p.I983S		NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	983	Interaction with BRCA1.				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						GGAAATCACAATTTTTTCTGC	0.348000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					15	25					0	0	0.002450	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140751569	140751569	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:140751569C>T	ENST00000576222.1	+	1	1739	c.1608C>T	c.(1606-1608)gaC>gaT	p.D536D	PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCCCGCGACCAGGGCTCGC	0.692000													13	35					0	0	0.001855	0	0
LRP2	4036	broad.mit.edu	37	2	169989179	169989179	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:169989179C>T	ENST00000263816.3	-	77	13918	c.13633G>A	c.(13633-13635)Gaa>Aaa	p.E4545K		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4545					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TCCACATTTTCAGATACAGTC	0.383000													18	33					0	0	0.004990	0	0
CXorf56	63932	broad.mit.edu	37	X	118676491	118676491	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:118676491C>T	ENST00000320339.4	-	5	614	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K	CXorf56_ENST00000486230.1_Missense_Mutation_p.E164K|CXorf56_ENST00000371594.4_Missense_Mutation_p.E164K|CXorf56_ENST00000476164.1_Missense_Mutation_p.E164K|CXorf56_ENST00000536133.1_Missense_Mutation_p.E150K|CXorf56_ENST00000469448.1_5'UTR	NM_001170569.1	NP_001164040.1	Q9H5V9	CX056_HUMAN	chromosome X open reading frame 56	164							protein binding			cervix(1)|endometrium(2)|lung(7)	10						TCTTCCTCTTCATCAATGGTA	0.507000													26	73					0	0	0.003954	0	0
PTPN18	26469	broad.mit.edu	37	2	131130753	131130753	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:131130753C>T	ENST00000175756.5	+	15	1440	c.1339C>T	c.(1339-1341)Ccg>Tcg	p.P447S	PTPN18_ENST00000347849.3_Missense_Mutation_p.P340S	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	447						cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					CATTGGGAGGCCGAAGGGTCC	0.612000													8	6					0	0	0.003080	0	0
PPRC1	23082	broad.mit.edu	37	10	103900286	103900286	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:103900286T>C	ENST00000278070.2	+	5	2060	c.2021T>C	c.(2020-2022)gTt>gCt	p.V674A	PPRC1_ENST00000413464.2_Missense_Mutation_p.V674A	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	674					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GTTGACCCTGTTCCTAATGAC	0.557000													11	54					0	0	0.001855	0	0
IGHM	3507	broad.mit.edu	37	14	106320619	106320619	+	RNA	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:106320619G>A	ENST00000390559.2	-	0	1190																											ACACGGTCAGGATGCTGTGGG	0.652000													8	16					0	0	0.003080	0	0
DISP2	85455	broad.mit.edu	37	15	40655877	40655877	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:40655877C>T	ENST00000267889.3	+	2	258	c.171C>T	c.(169-171)tcC>tcT	p.S57S		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	57					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		GAAGCTGCTCCCTCCACAGCT	0.642000													70	113					0	0	0.003610	0	0
AADACL2	344752	broad.mit.edu	37	3	151475038	151475038	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:151475038C>T	ENST00000356517.3	+	5	971	c.862C>T	c.(862-864)Cct>Tct	p.P288S	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	288						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TATTCTTCTTCCTGAGAAGTA	0.408000													18	64					0	0	0.006122	0	0
RXFP2	122042	broad.mit.edu	37	13	32332520	32332520	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr13:32332520G>A	ENST00000298386.2	+	2	291	c.220G>A	c.(220-222)Ggg>Agg	p.G74R	RXFP2_ENST00000380314.1_Missense_Mutation_p.G74R	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	74	LDL-receptor class A.					integral to membrane|plasma membrane		p.G74W(1)		cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		CTGTGGGAACGGGGCGGACGA	0.512000													34	90					0	0	0.005524	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77396127	77396127	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:77396127G>A	ENST00000282849.5	-	7	1509	c.1091C>T	c.(1090-1092)tCt>tTt	p.S364F		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	364	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						ACTATTCAGAGACTGGTCTGC	0.403000													10	25					0	0	0.006214	0	0
TRBV7-7	28591	broad.mit.edu	37	7	142119974	142119974	+	RNA	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:142119974G>A	ENST00000390377.1	-	0	192																											AAGTAAGTCAGAAACTCTGGG	0.507000													19	69					0	0	0.008871	0	0
HTR4	3360	broad.mit.edu	37	5	147900490	147900490	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:147900490G>A	ENST00000362016.2	-	6	707	c.544C>T	c.(544-546)Cat>Tat	p.H182Y	HTR4_ENST00000517929.1_Intron|HTR4_ENST00000354217.2_Intron|HTR4_ENST00000520514.1_Intron|HTR4_ENST00000521530.1_Intron|HTR4_ENST00000360693.3_Intron|HTR4_ENST00000521735.1_Intron|HTR4_ENST00000377888.3_Intron|HTR4_ENST00000314512.6_Intron			Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	169					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	CATACCGCATGAAAATCCTGG	0.448000													17	52					0	0	0.010504	0	0
HDX	139324	broad.mit.edu	37	X	83591836	83591836	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:83591836G>A	ENST00000297977.5	-	7	1824	c.1713C>T	c.(1711-1713)gaC>gaT	p.D571D	HDX_ENST00000373177.2_Silent_p.D571D|HDX_ENST00000506585.2_Silent_p.D513D	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	571						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						CTGCATGGTGGTCCTCTTCCT	0.368000													9	22					0	0	0.006214	0	0
TF	7018	broad.mit.edu	37	3	133475778	133475778	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:133475778C>T	ENST00000402696.3	+	7	1280	c.795C>T	c.(793-795)gtC>gtT	p.V265V	TF_ENST00000264998.3_Silent_p.V138V	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN	transferrin	265	Transferrin-like 1.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	TGGCCCAGGTCCCTTCTCATA	0.582000													27	99					0	0	0.005443	0	0
CCDC67	159989	broad.mit.edu	37	11	93170756	93170756	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:93170756C>T	ENST00000298050.3	+	14	1786	c.1686C>T	c.(1684-1686)ttC>ttT	p.F562F	CCDC67_ENST00000525646.1_Silent_p.F304F	NM_181645.3	NP_857596.2	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67	562										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				CACAGCATTTCCTTCTGGAAG	0.363000													27	23					0	0	0.004656	0	0
ARMC4	55130	broad.mit.edu	37	10	28225687	28225687	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:28225687C>T	ENST00000305242.5	-	15	2312	c.2220G>A	c.(2218-2220)tgG>tgA	p.W740*	ARMC4_ENST00000537576.1_Nonsense_Mutation_p.W432*|ARMC4_ENST00000545014.1_Nonsense_Mutation_p.W265*	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	740							binding	p.W740*(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TGGAACATTTCCATATAGCCC	0.443000													29	100					0	0	0.009535	0	0
SLC30A8	169026	broad.mit.edu	37	8	118159388	118159388	+	Silent	SNP	C	C	T	rs114650878	byFrequency	TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:118159388C>T	ENST00000427715.2	+	5	554	c.120C>T	c.(118-120)gtC>gtT	p.V40V	SLC30A8_ENST00000456015.2_Silent_p.V89V|SLC30A8_ENST00000519688.1_Silent_p.V40V|SLC30A8_ENST00000521243.1_Silent_p.V40V	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	89					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			TTGCAGAGGTCGTGGGTGAGT	0.413000													61	144					0	0	0.003610	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85450336	85450336	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:85450336G>A	ENST00000393217.2	+	8	1826	c.1765G>A	c.(1765-1767)Gaa>Aaa	p.E589K		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	589										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AGTAGAAAAAGAAGAGATACA	0.289000													4	15					0	0	0.009096	0	0
AKAP4	8852	broad.mit.edu	37	X	49957175	49957175	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:49957175G>A	ENST00000376056.2	-	5	2312	c.2162C>T	c.(2161-2163)tCg>tTg	p.S721L	AKAP4_ENST00000376058.2_Missense_Mutation_p.S347L|AKAP4_ENST00000376064.3_Missense_Mutation_p.S721L|AKAP4_ENST00000358526.2_Missense_Mutation_p.S730L|AKAP4_ENST00000481402.1_5'UTR			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	730					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					CTTATTTGCCGAGGCTGCTTG	0.443000													15	28					0	0	0.002450	0	0
MPP7	143098	broad.mit.edu	37	10	28358748	28358748	+	Missense_Mutation	SNP	C	C	T	rs147738330		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:28358748C>T	ENST00000337532.5	-	14	1433	c.1157G>A	c.(1156-1158)cGa>cAa	p.R386Q	MPP7_ENST00000375732.1_Missense_Mutation_p.R386Q|MPP7_ENST00000445954.2_Missense_Mutation_p.R261Q|MPP7_ENST00000375719.3_Missense_Mutation_p.R386Q|MPP7_ENST00000540098.1_Missense_Mutation_p.R386Q	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	386	Guanylate kinase-like.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						CAGCAGCTTTCGTTTCAGTTC	0.438000													12	25					0	0	0.001855	0	0
PDE6B	5158	broad.mit.edu	37	4	657903	657903	+	Splice_Site	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:657903G>A	ENST00000255622.6	+	17	2065	c.2021_splice	c.e17-1	p.K674_splice	PDE6B_ENST00000429163.2_Splice_Site_p.K395_splice|PDE6B_ENST00000496514.1_Splice_Site_p.K674_splice	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	674					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						CTGGGTTCAGGAAGAGAGCGA	0.622000													27	49					0	0	0.009535	0	0
HECA	51696	broad.mit.edu	37	6	139487510	139487510	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:139487510G>A	ENST00000367658.2	+	2	646	c.361G>A	c.(361-363)Gag>Aag	p.E121K	RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	121					respiratory tube development					endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		GTGCAACAACGAGCACTGCCC	0.627000													35	38					0	0	0.003755	0	0
SCNN1G	6340	broad.mit.edu	37	16	23226757	23226757	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:23226757G>A	ENST00000300061.2	+	13	2060	c.1917G>A	c.(1915-1917)caG>caA	p.Q639Q		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	639					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TTTCCAACCAGCTCACAGATA	0.572000													22	56					0	0	0.001882	0	0
ALDH1B1	219	broad.mit.edu	37	9	38396184	38396184	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:38396184C>T	ENST00000377698.3	+	2	592	c.439C>T	c.(439-441)Cgg>Tgg	p.R147W		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	147					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	CAAGGTGTATCGGTACTTTGC	0.557000													37	39					0	0	0.003271	0	0
ZNF804B	219578	broad.mit.edu	37	7	88962805	88962805	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:88962805G>A	ENST00000333190.4	+	4	1118	c.509G>A	c.(508-510)gGa>gAa	p.G170E		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	170						intracellular	zinc ion binding	p.G170E(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CTCCTTAAAGGAAAAAATCTC	0.443000										HNSCC(36;0.09)			16	33					0	0	0.004007	0	0
IL22RA1	58985	broad.mit.edu	37	1	24448010	24448010	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:24448010G>A	ENST00000270800.1	-	7	1048	c.1010C>T	c.(1009-1011)cCc>cTc	p.P337L		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	337						integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		CACGTTGGAGGGCTGGAGGAT	0.642000													30	68					0	0	0.009535	0	0
FRMPD4	9758	broad.mit.edu	37	X	12734739	12734739	+	Missense_Mutation	SNP	G	G	A	rs147167664		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:12734739G>A	ENST00000380682.1	+	15	2667	c.2161G>A	c.(2161-2163)Gat>Aat	p.D721N		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	721					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AAACATAGGCGATGTGAAGAG	0.522000													75	151					0	0	0.003610	0	0
PKD2L2	27039	broad.mit.edu	37	5	137235267	137235267	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:137235267G>A	ENST00000508638.1	+	5	642	c.587G>A	c.(586-588)cGa>cAa	p.R196Q	PKD2L2_ENST00000350250.4_Missense_Mutation_p.R162Q|PKD2L2_ENST00000508883.1_Missense_Mutation_p.R196Q|PKD2L2_ENST00000290431.5_Missense_Mutation_p.R196Q|PKD2L2_ENST00000502810.1_Missense_Mutation_p.R196Q	NM_001258449.1	NP_001245378.1	Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	196						integral to membrane	calcium ion binding|ion channel activity			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGTGTTTACCGAAATGGGGGA	0.383000													17	43					0	0	0.010504	0	0
KIAA1210	57481	broad.mit.edu	37	X	118223410	118223410	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:118223410C>T	ENST00000402510.2	-	11	1782	c.1783G>A	c.(1783-1785)Gag>Aag	p.E595K		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	595								p.E419Q(1)|p.E595Q(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GTAGGCTGCTCCATGTTGTCC	0.493000													22	59					0	0	0.001882	0	0
OR1L1	26737	broad.mit.edu	37	9	125424093	125424093	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:125424093C>T	ENST00000373686.1	+	1	249	c.249C>T	c.(247-249)ccC>ccT	p.P83P				Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						TGTTCCTCCCCATCTACCTTA	0.493000													25	41					0	0	0.003330	0	0
MSN	4478	broad.mit.edu	37	X	64959738	64959738	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:64959738G>A	ENST00000360270.5	+	13	1889	c.1717G>A	c.(1717-1719)Gaa>Aaa	p.E573K	MSN_ENST00000486030.1_3'UTR	NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	573					leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton	p.E573K(1)	MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						GCGCATTGACGAATTTGAGTC	0.532000			T	ALK	ALCL								31	73					0	0	0.005524	0	0
MYO15A	51168	broad.mit.edu	37	17	18025412	18025412	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:18025412C>T	ENST00000205890.5	+	2	3636	c.3298C>T	c.(3298-3300)Ctg>Ttg	p.L1100L		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1100	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCCAGAGCCCCTGCCCAAGGG	0.682000													27	60					0	0	0.009535	0	0
NDOR1	27158	broad.mit.edu	37	9	140109372	140109372	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:140109372C>T	ENST00000371521.4	+	8	1050	c.967C>T	c.(967-969)Cat>Tat	p.H323Y	NDOR1_ENST00000458322.2_Missense_Mutation_p.H323Y|NDOR1_ENST00000344894.5_Missense_Mutation_p.H323Y|NDOR1_ENST00000427047.2_Missense_Mutation_p.H289Y	NM_001144026.1	NP_001137498.1	Q9UHB4	NDOR1_HUMAN	NADPH dependent diflavin oxidoreductase 1	323	FAD-binding FR-type.				cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding			breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		TCTATCCCTCCATGAGCTGGA	0.632000													23	58					0	0	0.004656	0	0
PAX8	7849	broad.mit.edu	37	2	113993093	113993093	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:113993093G>A	ENST00000429538.3	-	9	1159	c.965C>T	c.(964-966)tCc>tTc	p.S322F	PAX8_ENST00000397647.3_Intron|PAX8_ENST00000348715.5_Intron|PAX8_ENST00000263334.5_Intron|PAX8_ENST00000263335.7_Intron|AC016683.6_ENST00000456685.1_RNA	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	322	Ser-rich.			S -> C (in Ref. 1; X69699).	branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						AGATAAAGAGGAAGGGGTGGA	0.592000			T	PPARG	follicular thyroid		Thyroid dysgenesis						10	25					0	0	0.006214	0	0
DENND1C	79958	broad.mit.edu	37	19	6467759	6467759	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:6467759G>A	ENST00000381480.2	-	23	2274	c.2162C>T	c.(2161-2163)cCc>cTc	p.P721L	DENND1C_ENST00000543576.1_Missense_Mutation_p.P677L	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	721						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						GGGCTTTGTGGGGGCCAGAAT	0.602000													7	17					0	0	0.003080	0	0
ARRDC2	27106	broad.mit.edu	37	19	18119156	18119156	+	Silent	SNP	T	T	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:18119156T>C	ENST00000222250.4	+	1	180	c.37T>C	c.(37-39)Ttg>Ctg	p.L13L	ARRDC2_ENST00000379656.2_Intron|ARRDC2_ENST00000595712.1_Intron	NM_015683.1	NP_056498.1	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2	13										endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						CTCGGTGCAGTTGGACGGCGC	0.697000													11	36					0	0	0.001368	0	0
TMCC2	9911	broad.mit.edu	37	1	205238736	205238736	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:205238736C>T	ENST00000358024.3	+	3	1795	c.1406C>T	c.(1405-1407)tCc>tTc	p.S469F	TMCC2_ENST00000330675.7_Missense_Mutation_p.S244F|TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000545499.1_Missense_Mutation_p.S391F|TMCC2_ENST00000329800.7_Missense_Mutation_p.S229F	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	469						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			ACACTCGTCTCCAGCCCCAAG	0.682000													24	94					0	0	0.003330	0	0
GRM8	2918	broad.mit.edu	37	7	126173159	126173159	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:126173159C>T	ENST00000339582.2	-	9	3085	c.2277G>A	c.(2275-2277)ttG>ttA	p.L759L	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Silent_p.L759L|GRM8_ENST00000358373.3_Silent_p.L759L			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	759					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	AAGTGACCATCAAGAGGATAC	0.448000										HNSCC(24;0.065)			11	42					0	0	0.000978	0	0
SCML2	10389	broad.mit.edu	37	X	18259384	18259384	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:18259384C>T	ENST00000251900.4	-	15	2249	c.2090G>A	c.(2089-2091)gGa>gAa	p.G697E	SCML2_ENST00000398048.3_3'UTR	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	697	SAM.				anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					ACTGTATTTTCCTTCTTTAAG	0.338000													17	57					0	0	0.006122	0	0
PFKFB3	5209	broad.mit.edu	37	10	6273263	6273263	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:6273263T>C	ENST00000379785.1	+	16	1971	c.1576T>C	c.(1576-1578)Tac>Cac	p.Y526H	PFKFB3_ENST00000379775.4_Intron|PFKFB3_ENST00000379782.3_Missense_Mutation_p.Y526H|PFKFB3_ENST00000360521.2_Intron|PFKFB3_ENST00000540253.1_Intron|PFKFB3_ENST00000536985.1_Intron|PFKFB3_ENST00000379789.4_Intron			Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	0					fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						GTTTTCTCCTTACTAACTGTG	0.488000													14	29					0	0	0.003163	0	0
OR4K1	79544	broad.mit.edu	37	14	20404752	20404752	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:20404752G>A	ENST00000285600.4	+	1	986	c.927G>A	c.(925-927)tgG>tgA	p.W309*		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TGAACTCCTGGAAAAACTAGG	0.438000													12	30					0	0	0.001368	0	0
MPP2	4355	broad.mit.edu	37	17	41981850	41981850	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:41981850G>A	ENST00000518766.1	-	2	170	c.114C>T	c.(112-114)ttC>ttT	p.F38F	MPP2_ENST00000461854.1_5'UTR|MPP2_ENST00000523501.1_Intron|MPP2_ENST00000520305.1_5'UTR|MPP2_ENST00000269095.4_5'UTR			Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	0	L27 1.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		CAAGGGCTCTGAAACGTCTCT	0.552000													28	36					0	0	0.008361	0	0
THSD7A	221981	broad.mit.edu	37	7	11676051	11676051	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:11676051G>A	ENST00000423059.3	-	2	979	c.728C>T	c.(727-729)tCc>tTc	p.S243F		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	243	TSP type-1 2.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GCATGGACTGGATTGGCACAC	0.642000										HNSCC(18;0.044)			7	25					0	0	0.001984	0	0
GZMK	3003	broad.mit.edu	37	5	54327348	54327348	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:54327348A>C	ENST00000231009.2	+	4	590	c.520A>C	c.(520-522)Act>Cct	p.T174P	CTD-2313F11.1_ENST00000595218.1_RNA|CTD-2313F11.1_ENST00000596137.1_RNA	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN	granzyme K (granzyme 3; tryptase II)	174	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				AGTCACTGTTACTGTCCTAAG	0.478000													27	59					0	0	0.006320	0	0
UGT2B4	7363	broad.mit.edu	37	4	70361377	70361377	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:70361377C>T	ENST00000305107.6	-	1	249	c.203G>A	c.(202-204)aGc>aAc	p.S68N	UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_Missense_Mutation_p.S68N|UGT2B4_ENST00000381096.3_Intron	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	68					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						AGTAGATGGGCTGTTGGGATC	0.398000													37	56					0	0	0.003755	0	0
HAVCR2	84868	broad.mit.edu	37	5	156522378	156522378	+	Silent	SNP	G	G	A	rs7727003	byFrequency	TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:156522378G>A	ENST00000307851.4	-	5	1345	c.615C>T	c.(613-615)atC>atT	p.I205I	HAVCR2_ENST00000522593.1_Silent_p.I177I	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	205						integral to membrane		p.I205I(1)		cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCCCTGCTCCGATGTAGATGC	0.448000													121	348					0	0	0.003610	0	0
SMC3	9126	broad.mit.edu	37	10	112364028	112364028	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:112364028G>A	ENST00000361804.4	+	29	3748	c.3622G>A	c.(3622-3624)Gac>Aac	p.D1208N		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	1208					cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		GATGGCCAAAGACTTTGTAGA	0.333000													12	30					0	0	0.001855	0	0
FAR2P1	440905	broad.mit.edu	37	2	130785890	130785890	+	RNA	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:130785890C>T	ENST00000325390.3	-	0	2977					NR_026758.1																						ACCTGGGTTTCCTTCCAGTGA	0.493000													3	18					0	0	0.004672	0	0
IGSF10	285313	broad.mit.edu	37	3	151156282	151156282	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:151156282C>T	ENST00000282466.3	-	6	6066	c.6067G>A	c.(6067-6069)Ggg>Agg	p.G2023R	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2023	Ig-like C2-type 6.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGATCATCCCCCATTTTGTTT	0.433000													19	80					0	0	0.006122	0	0
RALGAPB	57148	broad.mit.edu	37	20	37154084	37154084	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:37154084G>A	ENST00000262879.6	+	12	2109	c.1825G>A	c.(1825-1827)Gaa>Aaa	p.E609K	RALGAPB_ENST00000397040.1_Missense_Mutation_p.E609K|RALGAPB_ENST00000397042.3_Missense_Mutation_p.E609K|RALGAPB_ENST00000397038.1_Missense_Mutation_p.E387K			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	609					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						AAATCCAACAGAATTGCGAAG	0.333000													23	68					0	0	0.003954	0	0
MGAM	8972	broad.mit.edu	37	7	141750058	141750058	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:141750058C>A	ENST00000475668.2	+	23	2665	c.2611C>A	c.(2611-2613)Ctt>Att	p.L871I	MGAM_ENST00000549489.2_Missense_Mutation_p.L871I			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	871	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TAAAGTGTATCTTTTATGTGA	0.413000													47	176					8.04919e-23	8.2603e-23	0.003610	1	0
NDRG1	10397	broad.mit.edu	37	8	134260982	134260982	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:134260982G>A	ENST00000414097.2	-	11	1598	c.731C>T	c.(730-732)cCg>cTg	p.P244L	NDRG1_ENST00000354944.5_Missense_Mutation_p.P174L|NDRG1_ENST00000323851.7_Missense_Mutation_p.P244L|NDRG1_ENST00000518176.1_Intron|NDRG1_ENST00000521414.1_5'UTR|NDRG1_ENST00000537882.1_Missense_Mutation_p.P163L|NDRG1_ENST00000518066.1_Intron|NDRG1_ENST00000522476.1_Missense_Mutation_p.P178L	NM_001135242.1	NP_001128714.1	Q92597	NDRG1_HUMAN	N-myc downstream regulated 1	244					cellular response to hypoxia|response to metal ion	cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane	protein binding		NDRG1/ERG(5)	endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			GTGGGTTCCCGGCATTGGTCG	0.592000			T	ERG	prostate								34	61					0	0	0.004289	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475757	140475757	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:140475757C>T	ENST00000194155.4	+	1	1531	c.1383C>T	c.(1381-1383)ttC>ttT	p.F461F		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		461	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACACCCTGTTCGTCCGCGAGA	0.632000													32	137					0	0	0.002852	0	0
TRIM62	55223	broad.mit.edu	37	1	33625345	33625345	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:33625345C>T	ENST00000291416.5	-	3	938	c.705G>A	c.(703-705)cgG>cgA	p.R235R	TRIM62_ENST00000543586.1_Silent_p.R114R|TRIM62_ENST00000485148.1_5'UTR	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	235						intracellular	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				TTTCAGCCAGCCGCTCCTGCA	0.692000													23	29					0	0	0.002780	0	0
FAM135B	51059	broad.mit.edu	37	8	139145022	139145022	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:139145022C>T	ENST00000395297.1	-	20	4205	c.4035G>A	c.(4033-4035)atG>atA	p.M1345I		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1345										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GGTTGTTGATCATTTCTGCAT	0.502000										HNSCC(54;0.14)			53	138					0	0	0.003610	0	0
STOX1	219736	broad.mit.edu	37	10	70644268	70644268	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:70644268C>T	ENST00000298596.6	+	3	799	c.716C>T	c.(715-717)tCc>tTc	p.S239F	STOX1_ENST00000399162.2_Intron|STOX1_ENST00000399169.4_Missense_Mutation_p.S239F|STOX1_ENST00000421961.2_Missense_Mutation_p.S129F|STOX1_ENST00000399165.4_Intron	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	239						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						GCCCCCATATCCCACTGTCAG	0.527000													23	49					0	0	0.003330	0	0
PCYT1A	5130	broad.mit.edu	37	3	195968946	195968946	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:195968946G>A	ENST00000292823.2	-	8	753	c.581C>T	c.(580-582)aCa>aTa	p.T194I	PCYT1A_ENST00000419333.1_Missense_Mutation_p.T194I|PCYT1A_ENST00000431016.1_Missense_Mutation_p.T194I	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	phosphate cytidylyltransferase 1, choline, alpha	194	Catalytic (Potential).					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)	TGTCCTCTGTGTTGGAGCAAA	0.468000													27	86					0	0	0.008361	0	0
IREB2	3658	broad.mit.edu	37	15	78780998	78780998	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:78780998C>T	ENST00000258886.8	+	16	2110	c.1961C>T	c.(1960-1962)cCc>cTc	p.P654L		NM_004136.2	NP_004127.1	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	654							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		GGTACTGACCCCACCGGCAAG	0.343000													14	27					0	0	0.007413	0	0
LINS	55180	broad.mit.edu	37	15	101109545	101109545	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:101109545G>A	ENST00000314742.8	-	7	2394	c.2172C>T	c.(2170-2172)tgC>tgT	p.C724C		NM_001040616.2	NP_001035706.1	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	724										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						TTTGCAAACGGCAGATGGCAT	0.348000													28	68					0	0	0.009535	0	0
CECR5	27440	broad.mit.edu	37	22	17619575	17619575	+	Missense_Mutation	SNP	G	G	A	rs140503307		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr22:17619575G>A	ENST00000336737.4	-	7	825	c.800C>T	c.(799-801)aCg>aTg	p.T267M	CECR5_ENST00000399852.3_Intron|CECR5_ENST00000155674.5_Missense_Mutation_p.T237M	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	267							hydrolase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				CTCCTTGCCCGTCACTTTCTG	0.577000													54	143					0	0	0.003610	0	0
CHST2	9435	broad.mit.edu	37	3	142840619	142840619	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:142840619C>T	ENST00000309575.3	+	2	2345	c.961C>T	c.(961-963)Ccg>Tcg	p.P321S		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	321					inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						GCTGCGAGACCCGGCCCTGGA	0.652000													5	14					0	0	0.000602	0	0
ANK1	286	broad.mit.edu	37	8	41555635	41555635	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:41555635C>T	ENST00000396942.1	-	24	2646	c.2563G>A	c.(2563-2565)Gaa>Aaa	p.E855K	ANK1_ENST00000379758.2_Missense_Mutation_p.E855K|ANK1_ENST00000396945.1_Missense_Mutation_p.E855K|ANK1_ENST00000289734.7_Missense_Mutation_p.E855K|ANK1_ENST00000352337.4_Missense_Mutation_p.E855K|ANK1_ENST00000265709.8_Missense_Mutation_p.E896K|ANK1_ENST00000347528.4_Missense_Mutation_p.E855K			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	855					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)			GCTGGAGATTCCACCCTGCGT	0.567000													12	39					0	0	0.002450	0	0
TMED3	23423	broad.mit.edu	37	15	79614517	79614517	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:79614517C>T	ENST00000299705.5	+	3	803	c.615C>T	c.(613-615)ttC>ttT	p.F205F	TMED3_ENST00000558562.1_3'UTR|TMED3_ENST00000424155.2_Intron|TMED3_ENST00000536821.1_Intron	NM_007364.2	NP_031390.1	Q9Y3Q3	TMED3_HUMAN	transmembrane emp24 protein transport domain containing 3	205					protein transport	ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane				large_intestine(3)|lung(4)|ovary(1)|skin(1)	9						AAAGCTTCTTCACAGAAAAAC	0.557000													33	58					0	0	0.002836	0	0
NSUN7	79730	broad.mit.edu	37	4	40763260	40763260	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:40763260C>T	ENST00000381782.2	+	4	925	c.430C>T	c.(430-432)Ctt>Ttt	p.L144F	NSUN7_ENST00000316607.5_Missense_Mutation_p.L144F	NM_024677.4	NP_078953.3			NOP2/Sun domain family, member 7											NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						AACTCGTGTCCTTTCTGATAA	0.318000													33	64					0	0	0.004878	0	0
SAMD7	344658	broad.mit.edu	37	3	169644401	169644401	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:169644401G>A	ENST00000428432.2	+	6	740	c.351G>A	c.(349-351)aaG>aaA	p.K117K	SAMD7_ENST00000335556.3_Silent_p.K117K	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	117										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			TTAATCCCAAGGGACTAGCAG	0.478000													17	51					0	0	0.006122	0	0
ASXL2	55252	broad.mit.edu	37	2	25973192	25973192	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:25973192G>A	ENST00000435504.4	-	12	1526	c.1233C>T	c.(1231-1233)tcC>tcT	p.S411S	ASXL2_ENST00000336112.4_Silent_p.S383S|ASXL2_ENST00000272341.4_Silent_p.S151S|ASXL2_ENST00000404843.1_Silent_p.S151S			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	411					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACACAGGCATGGATTTTGGTT	0.443000													69	180					0	0	0.003610	0	0
PPARG	5468	broad.mit.edu	37	3	12458487	12458487	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:12458487C>T	ENST00000397026.2	+	8	1421	c.1038C>T	c.(1036-1038)ctC>ctT	p.L346L	PPARG_ENST00000287820.6_Silent_p.L368L|PPARG_ENST00000397010.2_Silent_p.L340L|PPARG_ENST00000309576.6_Silent_p.L340L|PPARG_ENST00000397015.2_Silent_p.L340L|PPARG_ENST00000397012.2_Silent_p.L340L|PPARG_ENST00000397000.1_Intron|PPARG_ENST00000539812.1_Intron			P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	368	Ligand-binding.				activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	ATGGGGTTCTCATATCCGAGG	0.443000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""						149	360					0	0	0.003610	0	0
POTEH	23784	broad.mit.edu	37	22	16279248	16279248	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr22:16279248C>T	ENST00000343518.6	-	4	1026	c.975G>A	c.(973-975)gtG>gtA	p.V325V		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	325										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TTAAAAATTTCACCACTTGCT	0.328000													25	287					0	0	0.002096	0	0
DIP2C	22982	broad.mit.edu	37	10	395384	395384	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:395384G>A	ENST00000280886.6	-	25	3083	c.2996C>T	c.(2995-2997)gCg>gTg	p.A999V		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	999						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CAGCGAGTTCGCTATCGCACC	0.607000													23	42					0	0	0.005443	0	0
PRSS37	136242	broad.mit.edu	37	7	141540847	141540847	+	Translation_Start_Site	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:141540847C>T	ENST00000350549.3	-	1	374	c.3G>A	c.(1-3)atG>atA	p.M1I	PRSS37_ENST00000438520.1_Start_Codon_SNP_p.M1I	NM_001008270.2|NM_001171951.1	NP_001008271.2|NP_001165422.1	A4D1T9	PRS37_HUMAN	protease, serine, 37	1					proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						AGACATATTTCATGGTGATCC	0.483000													20	86					0	0	0.008871	0	0
ZNF300P1	134466	broad.mit.edu	37	5	150310464	150310464	+	RNA	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:150310464G>A	ENST00000520773.1	-	0	2857																											TGACTTCTGAGAAAAGGCCTT	0.453000													4	11					0	0	0.000602	0	0
DCHS2	54798	broad.mit.edu	37	4	155157007	155157007	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:155157007C>T	ENST00000357232.3	-	25	7431	c.7432G>A	c.(7432-7434)Gga>Aga	p.G2478R		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2478	Cadherin 22.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G2478R(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TAAATATTTCCATTGGTTTTA	0.383000													15	46					0	0	0.002450	0	0
NADK	65220	broad.mit.edu	37	1	1688036	1688036	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:1688036G>A	ENST00000344463.4	-	7	1061	c.840C>T	c.(838-840)atC>atT	p.I280I	NADK_ENST00000378625.1_Silent_p.I280I|NADK_ENST00000341991.3_Silent_p.I135I|NADK_ENST00000341426.5_Silent_p.I135I|NADK_ENST00000492768.1_5'UTR|NADK_ENST00000342348.5_Silent_p.I103I			O95544	NADK_HUMAN	NAD kinase	135					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-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)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		CCACATACACGATCATGTTCT	0.547000													15	19					0	0	0.003163	0	0
GIMAP1	170575	broad.mit.edu	37	7	150416147	150416147	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:150416147G>A	ENST00000307194.5	+	2	152	c.12G>A	c.(10-12)agG>agA	p.R4R		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1											NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGGAGGAAGGAAGATGGCGA	0.413000													16	49					0	0	0.004007	0	0
FGA	2243	broad.mit.edu	37	4	155507595	155507595	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:155507595C>T	ENST00000302053.3	-	5	1064	c.986G>A	c.(985-987)gGa>gAa	p.G329E	FGA_ENST00000403106.3_Missense_Mutation_p.G329E	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	329					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TCCAGTACTTCCAGGTCCAGA	0.562000													61	95					0	0	0.003610	0	0
BCAS1	8537	broad.mit.edu	37	20	52645374	52645374	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:52645374G>A	ENST00000395961.3	-	4	446	c.280C>T	c.(280-282)Cgt>Tgt	p.R94C	BCAS1_ENST00000411563.1_5'UTR|BCAS1_ENST00000371435.2_Missense_Mutation_p.R94C|BCAS1_ENST00000371440.3_Missense_Mutation_p.R94C	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	94						cytoplasm	protein binding	p.R94S(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			AAGAAAAAACGAGATTTAGCA	0.517000													12	28					0	0	0.001368	0	0
ZNF99	7652	broad.mit.edu	37	19	22941365	22941365	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:22941365C>T	ENST00000397104.3	-	5	1072	c.1073G>A	c.(1072-1074)gGa>gAa	p.G358E	ZNF99_ENST00000596209.1_Missense_Mutation_p.G449E					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GGGTTGCTTTCCAGTATGAAT	0.368000													13	33					0	0	0.001855	0	0
RGPD3	653489	broad.mit.edu	37	2	107042458	107042458	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:107042458G>A	ENST00000409886.3	-	19	2779	c.2692C>T	c.(2692-2694)Ccc>Tcc	p.P898S	RGPD3_ENST00000304514.7_Missense_Mutation_p.P898S	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	898					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						ACCTTTGTGGGAGTAACATTA	0.313000													20	70					0	0	0.003954	0	0
NEBL	10529	broad.mit.edu	37	10	21129757	21129757	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:21129757C>T	ENST00000377122.4	-	13	1645	c.1249G>A	c.(1249-1251)Gaa>Aaa	p.E417K	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	417					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						ATCTCATTTTCCAAATCTTTT	0.343000													7	27					0	0	0.001984	0	0
NOTCH4	4855	broad.mit.edu	37	6	32163515	32163515	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:32163515C>T	ENST00000375023.3	-	30	5849	c.5711G>A	c.(5710-5712)gGa>gAa	p.G1904E	NOTCH4_ENST00000443903.2_3'UTR	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1904					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TCCTCCTGCTCCTACTCCCGA	0.672000													80	149					0	0	0.003610	0	0
MAGEA8	4107	broad.mit.edu	37	X	149013428	149013428	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:149013428C>T	ENST00000535454.1	+	4	931	c.382C>T	c.(382-384)Caa>Taa	p.Q128*	MAGEA8_ENST00000542674.1_Nonsense_Mutation_p.Q128*|MAGEA8_ENST00000286482.1_Nonsense_Mutation_p.Q128*	NM_001166400.1	NP_001159872.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	128	MAGE.									NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					CCGCAAATATCAAATTAAGGA	0.488000													31	87					0	0	0.009535	0	0
NEB	4703	broad.mit.edu	37	2	152432773	152432773	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:152432773G>A	ENST00000427231.2	-	106	17002	c.16800C>T	c.(16798-16800)atC>atT	p.I5600I	NEB_ENST00000604864.1_Silent_p.I5600I|NEB_ENST00000603639.1_Silent_p.I5600I|NEB_ENST00000172853.10_Silent_p.I3899I|NEB_ENST00000397345.3_Silent_p.I5600I|NEB_ENST00000409198.1_Silent_p.I3899I	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	5611					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGTCACAAAAGATATTCTGGG	0.478000													31	53					0	0	0.002836	0	0
IRF5	3663	broad.mit.edu	37	7	128588335	128588335	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:128588335G>A	ENST00000402030.2	+	8	1276	c.1204G>A	c.(1204-1206)Gaa>Aaa	p.E402K	IRF5_ENST00000477535.1_Missense_Mutation_p.E316K|IRF5_ENST00000357234.5_Missense_Mutation_p.E418K|IRF5_ENST00000473745.1_Missense_Mutation_p.E402K|IRF5_ENST00000249375.4_Missense_Mutation_p.E402K	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	402					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						CTTTGGGGAAGAATGGCCTGA	0.517000													35	112					0	0	0.003755	0	0
DPP10	57628	broad.mit.edu	37	2	116101467	116101467	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:116101467C>T	ENST00000410059.1	+	3	730	c.250C>T	c.(250-252)Cca>Tca	p.P84S	DPP10_ENST00000310323.8_Missense_Mutation_p.P77S|DPP10_ENST00000409163.1_Missense_Mutation_p.P34S|DPP10_ENST00000393147.2_Missense_Mutation_p.P88S	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	84					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						GCTTCACGATCCAGAGGCTCG	0.333000													14	32					0	0	0.002450	0	0
SLC5A8	160728	broad.mit.edu	37	12	101581202	101581202	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:101581202C>T	ENST00000536262.2	-	7	1483	c.925G>A	c.(925-927)Gat>Aat	p.D309N		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	309					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GTCCAAGGATCACAGTCATGG	0.433000													11	25					0	0	0.001368	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77913741	77913741	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:77913741C>T	ENST00000321110.1	-	2	472	c.177G>A	c.(175-177)aaG>aaA	p.K59K		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	59							nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TCTGGGGCTCCTTGGCCTCTG	0.572000													15	30					0	0	0.004007	0	0
ZNF804B	219578	broad.mit.edu	37	7	88963946	88963946	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:88963946G>A	ENST00000333190.4	+	4	2259	c.1650G>A	c.(1648-1650)agG>agA	p.R550R		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	550						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AATTCCAGAGGAAATATAATT	0.348000										HNSCC(36;0.09)			15	32					0	0	0.003163	0	0
PTCHD1	139411	broad.mit.edu	37	X	23411622	23411622	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:23411622G>A	ENST00000379361.4	+	3	2847	c.1987G>A	c.(1987-1989)Gat>Aat	p.D663N		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	663					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						AGAACTCTATGATCTCTTGGA	0.433000													15	40					0	0	0.004007	0	0
TRHR	7201	broad.mit.edu	37	8	110100160	110100160	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:110100160C>T	ENST00000518632.1	+	2	770	c.419C>T	c.(418-420)tCc>tTc	p.S140F	TRHR_ENST00000311762.2_Missense_Mutation_p.S140F			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	140						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			TGCACATTTTCCAGAGCCAAA	0.403000													19	51					0	0	0.007413	0	0
COL5A3	50509	broad.mit.edu	37	19	10080595	10080595	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:10080595G>A	ENST00000264828.3	-	55	4025	c.3940C>T	c.(3940-3942)Cct>Tct	p.P1314S		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1314	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)			TGGCCTGAAGGACCCTTGGAA	0.612000													29	78					0	0	0.002836	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49687743	49687743	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:49687743G>A	ENST00000249601.4	-	4	683	c.387C>T	c.(385-387)tcC>tcT	p.S129S	ARHGAP22_ENST00000374170.1_Silent_p.S39S|ARHGAP22_ENST00000374172.1_Silent_p.S4S|ARHGAP22_ENST00000417247.2_Silent_p.S39S|ARHGAP22_ENST00000417912.2_Silent_p.S129S|ARHGAP22_ENST00000435790.2_Silent_p.S135S	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	129	PH.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TGTCACGCTGGGAGCTGGCCA	0.677000													8	11					0	0	0.003080	0	0
SDR16C5	195814	broad.mit.edu	37	8	57228854	57228854	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:57228854G>A	ENST00000396721.2	-	2	183	c.53C>T	c.(52-54)tCa>tTa	p.S18L	SDR16C5_ENST00000303749.3_Missense_Mutation_p.S18L|SDR16C5_ENST00000522671.1_Missense_Mutation_p.S18L			Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	18					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						ACTAAACAGTGATTTTCCTAA	0.418000													8	35					0	0	0.004482	0	0
C8B	732	broad.mit.edu	37	1	57415241	57415241	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:57415241C>T	ENST00000543257.1	-	7	1261	c.695G>A	c.(694-696)cGa>cAa	p.R232Q	C8B_ENST00000535057.1_Missense_Mutation_p.R222Q|C8B_ENST00000371237.4_Missense_Mutation_p.R284Q	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	284	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						ATGAGAGAATCGTTTGGTTCT	0.353000													7	24					0	0	0.001984	0	0
SEPT1	1731	broad.mit.edu	37	16	30392507	30392507	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:30392507G>T	ENST00000321367.3	-	7	685	c.640C>A	c.(640-642)Cca>Aca	p.P214T	SEPT1_ENST00000605106.1_Missense_Mutation_p.P172T|SEPT1_ENST00000571393.1_Missense_Mutation_p.P167T	NM_052838.4	NP_443070.5	Q8WYJ6	SEPT1_HUMAN	septin 1	167					cell cycle|cell division	microtubule organizing center|septin complex	GTP binding|protein binding			breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			CCAATGACTGGGATGATGTTG	0.587000													32	85					1.06801e-11	1.08721e-11	0.009535	1	0
ZHX2	22882	broad.mit.edu	37	8	123964738	123964738	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:123964738C>T	ENST00000314393.4	+	3	1823	c.988C>T	c.(988-990)Cgg>Tgg	p.R330W		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	330	Required for homodimerization.|Required for interaction with NFYA.|Required for nuclear localization.|Required for repressor activity.					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			GGAGGAGGCCCGGAAGAAGAT	0.597000													21	94					0	0	0.001882	0	0
FZD7	8324	broad.mit.edu	37	2	202900493	202900493	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:202900493G>A	ENST00000286201.1	+	1	1184	c.1123G>A	c.(1123-1125)Gag>Aag	p.E375K		NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled family receptor 7	375					axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						CGAGGCCATCGAGGCCAACTC	0.637000											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	60					0	0	0.001882	0	0
RAPGEF1	2889	broad.mit.edu	37	9	134501399	134501399	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:134501399G>A	ENST00000372195.1	-	10	1855	c.1612C>T	c.(1612-1614)Cct>Tct	p.P538S	RAPGEF1_ENST00000372189.3_Missense_Mutation_p.P521S|RAPGEF1_ENST00000372190.3_Missense_Mutation_p.P539S			Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	521					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		AATTCGACAGGGGCTGAGGAA	0.537000													12	29					0	0	0.001368	0	0
LY6G6D	58530	broad.mit.edu	37	6	31677886	31677886	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:31677886G>A	ENST00000503322.1	+	4	733	c.730G>A	c.(730-732)Ggc>Agc	p.G244S	XXbac-BPG32J3.20_ENST00000461287.1_Intron|LY6G6F_ENST00000556581.1_Missense_Mutation_p.G244S|LY6G6F_ENST00000375832.4_Missense_Mutation_p.G244S																							GCTCACAATGGGCCAGGGAGT	0.622000													153	309					0	0	0.003610	0	0
ZNF610	162963	broad.mit.edu	37	19	52857061	52857061	+	Splice_Site	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:52857061G>A	ENST00000601151.1	+	4	642	c.190_splice	c.e4+1	p.G64_splice	ZNF610_ENST00000403906.3_Splice_Site_p.G64_splice|ZNF610_ENST00000327920.8_Splice_Site_p.G64_splice|ZNF610_ENST00000321287.8_Splice_Site_p.G64_splice	NM_001161427.1	NP_001154899.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	64	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		GGTCTTTCTGGGTGAGGATGA	0.507000													29	86					0	0	0.002445	0	0
OR4C13	283092	broad.mit.edu	37	11	49973998	49973998	+	Silent	SNP	A	A	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:49973998A>T	ENST00000555099.1	+	1	56	c.24A>T	c.(22-24)acA>acT	p.T8T		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						ACAATGTGACAGAGTTTATTC	0.299000													32	38					0	0	0.002445	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64635416	64635416	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:64635416G>A	ENST00000498707.1	-	10	1844	c.1502C>T	c.(1501-1503)tCc>tTc	p.S501F	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.S473F	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	501					glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GTAGGGTCTGGATTCAGGTTC	0.488000													125	396					0	0	0.003610	0	0
COBLL1	22837	broad.mit.edu	37	2	165551044	165551044	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:165551044G>A	ENST00000375458.2	-	11	3079	c.2858C>T	c.(2857-2859)cCa>cTa	p.P953L	COBLL1_ENST00000342193.4_Missense_Mutation_p.P991L|COBLL1_ENST00000392717.2_Missense_Mutation_p.P1029L|COBLL1_ENST00000194871.6_Missense_Mutation_p.P1058L|COBLL1_ENST00000409184.3_Missense_Mutation_p.P991L	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	1029										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						CACAGGTTTTGGAGCTATGGG	0.468000													25	59					0	0	0.005443	0	0
TTN	7273	broad.mit.edu	37	2	179432379	179432379	+	Silent	SNP	T	T	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:179432379T>C	ENST00000589042.1	-	326	78704	c.78480A>G	c.(78478-78480)gaA>gaG	p.E26160E	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Silent_p.E17287E|TTN_ENST00000591111.1_Silent_p.E24519E|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.E17220E|TTN_ENST00000460472.2_Silent_p.E17095E|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Silent_p.E23592E|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24519	Fibronectin type-III 90.						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)			TGACTCTGAATTCATATCTTT	0.398000													24	55					0	0	0.003954	0	0
ACOT9	23597	broad.mit.edu	37	X	23722031	23722031	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:23722031C>T	ENST00000379303.5	-	16	1455	c.1327G>A	c.(1327-1329)Gac>Aac	p.D443N	ACOT9_ENST00000336430.7_Missense_Mutation_p.D434N|ACOT9_ENST00000379295.1_Missense_Mutation_p.D374N	NM_001037171.1	NP_001032248.1	Q9Y305	ACOT9_HUMAN	acyl-CoA thioesterase 9	434					acyl-CoA metabolic process	mitochondrion	acetyl-CoA hydrolase activity|carboxylesterase activity			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						ACAAGGTAGTCCTTTCTCAAG	0.463000													22	48					0	0	0.001882	0	0
ZNF398	57541	broad.mit.edu	37	7	148876498	148876498	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:148876498C>T	ENST00000420008.2	+	6	1809	c.1021C>T	c.(1021-1023)Ccc>Tcc	p.P341S	ZNF398_ENST00000540950.1_Missense_Mutation_p.P517S|ZNF398_ENST00000335901.4_Missense_Mutation_p.P341S|ZNF398_ENST00000426851.2_Missense_Mutation_p.P341S|ZNF398_ENST00000483892.1_Missense_Mutation_p.P341S|ZNF398_ENST00000475153.1_Missense_Mutation_p.P512S|ZNF398_ENST00000491174.1_Missense_Mutation_p.P341S	NM_170686.2	NP_733787.1	Q8TD17	ZN398_HUMAN	zinc finger protein 398	512					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			GCGTCCTTACCCCTGCACTGA	0.612000													35	34					0	0	0.003271	0	0
PREX2	80243	broad.mit.edu	37	8	69058566	69058566	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:69058566C>T	ENST00000288368.4	+	34	4487	c.4210C>T	c.(4210-4212)Cat>Tat	p.H1404Y		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1404					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GTTTAAAATTCATCCTGTTCT	0.318000													12	35					0	0	0.001855	0	0
MFF	56947	broad.mit.edu	37	2	228195367	228195367	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:228195367C>G	ENST00000353339.3	+	4	505	c.64C>G	c.(64-66)Ccc>Gcc	p.P22A	MFF_ENST00000349901.7_5'UTR|MFF_ENST00000476924.1_Intron|MFF_ENST00000337110.7_5'UTR|MFF_ENST00000409565.1_5'UTR|MFF_ENST00000354503.6_5'UTR|MFF_ENST00000409616.1_5'UTR|MFF_ENST00000304593.9_5'UTR|MFF_ENST00000524634.1_Intron|MFF_ENST00000392059.1_Missense_Mutation_p.P22A	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	22						integral to membrane|mitochondrial outer membrane				breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						ATTTCCTTCTCCCACTGCTGC	0.438000													8	24					0	0	0.003080	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209203253	209203253	+	Missense_Mutation	SNP	C	C	T	rs150593024	byFrequency	TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:209203253C>T	ENST00000264380.4	+	29	4791	c.4633C>T	c.(4633-4635)Cca>Tca	p.P1545S		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1545					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GGATGCATCTCCACGGAATAT	0.333000													6	19					0	0	0.001984	0	0
ERGIC1	57222	broad.mit.edu	37	5	172324007	172324007	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:172324007T>C	ENST00000393784.3	+	3	224	c.85T>C	c.(85-87)Tcc>Ccc	p.S29P	ERGIC1_ENST00000519860.1_3'UTR|ERGIC1_ENST00000523291.1_Missense_Mutation_p.S29P	NM_001031711.2	NP_001026881.1	Q969X5	ERGI1_HUMAN	endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1	29					ER to Golgi vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)	9	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCTTCCAGTCTCCATCTGCTG	0.522000													18	46					0	0	0.001882	0	0
POU3F2	5454	broad.mit.edu	37	6	99283557	99283557	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:99283557C>T	ENST00000328345.5	+	1	978	c.808C>T	c.(808-810)Ctg>Ttg	p.L270L		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	270	POU-specific.				positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		CTCGGACGACCTGGAGCAGTT	0.697000													51	66					0	0	0.003610	0	0
MAGEE1	57692	broad.mit.edu	37	X	75648791	75648791	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:75648791C>T	ENST00000361470.2	+	1	746	c.468C>T	c.(466-468)gcC>gcT	p.A156A		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	156	Pro-rich.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		p.A156A(2)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CGCCCACCGCCTCTGAGGTAC	0.687000													19	46					0	0	0.007413	0	0
MUSK	4593	broad.mit.edu	37	9	113496637	113496637	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:113496637G>A	ENST00000416899.2	+	6	861	c.735G>A	c.(733-735)tgG>tgA	p.W245*	MUSK_ENST00000189978.5_Nonsense_Mutation_p.W245*|MUSK_ENST00000374448.4_Nonsense_Mutation_p.W245*			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	245	Ig-like 3.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						CCATCACCTGGATTGAAAACG	0.512000													25	47					0	0	0.006320	0	0
RNASEL	6041	broad.mit.edu	37	1	182555226	182555226	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:182555226C>T	ENST00000367559.3	-	2	969	c.716G>A	c.(715-717)gGg>gAg	p.G239E	RNASEL_ENST00000539397.1_Missense_Mutation_p.G239E|RNASEL_ENST00000444138.1_Missense_Mutation_p.G239E	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	239	2-5A binding (P-loop) 1.				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						GGGAGTCTTCCCTCTTTCTCC	0.512000													25	42					0	0	0.002780	0	0
CDH17	1015	broad.mit.edu	37	8	95177987	95177987	+	Splice_Site	SNP	A	A	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:95177987A>G	ENST00000027335.3	-	10	1407		c.e10+1		CDH17_ENST00000441892.2_Splice_Site|CDH17_ENST00000450165.2_Splice_Site	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)							integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			TATGATACTAACCTTTGTCAG	0.383000													15	28					0	0	0.003163	0	0
PPARD	5467	broad.mit.edu	37	6	35392314	35392314	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:35392314T>C	ENST00000311565.4	+	8	1185	c.836T>C	c.(835-837)gTt>gCt	p.V279A	PPARD_ENST00000360694.3_Missense_Mutation_p.V279A|PPARD_ENST00000418635.2_Missense_Mutation_p.V181A|PPARD_ENST00000448077.2_Missense_Mutation_p.V240A|PPARD_ENST00000540939.1_Missense_Mutation_p.V176A|PPARD_ENST00000337400.2_Missense_Mutation_p.V279A|PPARD_ENST00000444397.1_Missense_Mutation_p.V279A	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	279	Ligand-binding.				apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	AACGACCAGGTTACCCTTCTC	0.592000													12	37					0	0	0.001368	0	0
MPRIP	23164	broad.mit.edu	37	17	17075095	17075095	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:17075095C>T	ENST00000395811.5	+	16	2316	c.2227C>T	c.(2227-2229)Cag>Tag	p.Q743*	MPRIP_ENST00000444976.1_Nonsense_Mutation_p.Q705*|MPRIP_ENST00000395804.3_Nonsense_Mutation_p.Q743*|MPRIP_ENST00000341712.4_Nonsense_Mutation_p.Q743*|RP11-45M22.3_ENST00000584203.1_RNA	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	743	Interaction with RHOA.					cytoplasm|cytoskeleton	actin binding			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						TGAAGATCTCCAGAGGCAGCA	0.547000													60	143					0	0	0.003610	0	0
DCC	1630	broad.mit.edu	37	18	50278691	50278691	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:50278691C>T	ENST00000442544.2	+	2	975	c.359C>T	c.(358-360)tCt>tTt	p.S120F	DCC_ENST00000412726.1_5'UTR	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	120	Ig-like C2-type 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGTGAGGCATCTTTAGGAGAT	0.448000													30	80					0	0	0.009535	0	0
CALHM1	255022	broad.mit.edu	37	10	105215174	105215174	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:105215174G>A	ENST00000329905.5	-	2	1022	c.886C>T	c.(886-888)Caa>Taa	p.Q296*	RP11-225H22.4_ENST00000411906.1_RNA	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	296						endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel activity|identical protein binding			large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						ATGGTGCCTTGATCCGTGATG	0.672000													6	21					0	0	0.001168	0	0
IFIT2	3433	broad.mit.edu	37	10	91066443	91066443	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:91066443C>T	ENST00000371826.3	+	2	899	c.730C>T	c.(730-732)Cca>Tca	p.P244S	LIPA_ENST00000487618.1_Intron|LIPA_ENST00000371837.1_Intron	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN	interferon-induced protein with tetratricopeptide repeats 2	244					negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				GGAGAAAGCCCCAGGTGTAAC	0.438000													17	43					0	0	0.004007	0	0
PPP1CB	5500	broad.mit.edu	37	2	29016845	29016845	+	Silent	SNP	T	T	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:29016845T>C	ENST00000395366.2	+	7	1133	c.861T>C	c.(859-861)acT>acC	p.T287T	PPP1CB_ENST00000358506.2_Silent_p.T287T|PPP1CB_ENST00000296122.6_Silent_p.T287T|SPDYA_ENST00000462832.1_3'UTR	NM_002709.2	NP_002700.1	P62140	PP1B_HUMAN	protein phosphatase 1, catalytic subunit, beta isozyme	287					cell cycle|cell division|glycogen metabolic process|triglyceride catabolic process	MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|myosin phosphatase activity|myosin-light-chain-phosphatase activity|protein binding			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					TGGATGAAACTTTGATGTGTT	0.313000													13	30					0	0	0.001855	0	0
DCHS2	54798	broad.mit.edu	37	4	155157406	155157406	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:155157406G>A	ENST00000357232.3	-	25	7032	c.7033C>T	c.(7033-7035)Ccg>Tcg	p.P2345S		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2345	Cadherin 21.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P2345S(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TCTCCATACGGACCAGCATCA	0.403000													20	52					0	0	0.007413	0	0
NT5M	56953	broad.mit.edu	37	17	17248135	17248135	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:17248135C>T	ENST00000389022.4	+	4	673	c.457C>T	c.(457-459)Cct>Tct	p.P153S	NT5M_ENST00000582909.1_3'UTR	NM_020201.3	NP_064586.1	Q9NPB1	NT5M_HUMAN	5',3'-nucleotidase, mitochondrial	153					DNA replication|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	5'-nucleotidase activity|metal ion binding|nucleotide binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						GTACTTTGGCCCTGACTTTCT	0.567000													35	98					0	0	0.006999	0	0
COL27A1	85301	broad.mit.edu	37	9	117063375	117063375	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:117063375C>T	ENST00000356083.3	+	52	5116	c.4725C>T	c.(4723-4725)ccC>ccT	p.P1575P		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1575	Collagen-like 16.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TCGTCGGGCCCCTCGGAATCC	0.612000													12	44					0	0	0.000978	0	0
GTPBP1	9567	broad.mit.edu	37	22	39123256	39123256	+	Silent	SNP	T	T	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr22:39123256T>G	ENST00000216044.5	+	9	1673	c.1440T>G	c.(1438-1440)gtT>gtG	p.V480V		NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1	480					immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					TGGTGATGGTTTCCCCACGTT	0.577000													38	76					0	0	0.005524	0	0
SCN10A	6336	broad.mit.edu	37	3	38739746	38739746	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:38739746G>A	ENST00000449082.2	-	27	4964	c.4965C>T	c.(4963-4965)ttC>ttT	p.F1655F		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1655					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TGGTAATCTGGAAGAGGCACA	0.587000													39	89					0	0	0.006230	0	0
DNM2	1785	broad.mit.edu	37	19	10909219	10909219	+	Missense_Mutation	SNP	C	C	T	rs121909091		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:10909219C>T	ENST00000314646.5	+	11	1557	c.1393C>T	c.(1393-1395)Cgg>Tgg	p.R465W	DNM2_ENST00000355667.6_Missense_Mutation_p.R465W|DNM2_ENST00000389253.4_Missense_Mutation_p.R465W|DNM2_ENST00000359692.6_Missense_Mutation_p.R465W|DNM2_ENST00000585892.1_Missense_Mutation_p.R465W|DNM2_ENST00000408974.4_Missense_Mutation_p.R465W			P50570	DYN2_HUMAN	dynamin 2	465			R -> W (in ADCNM; reduced association with the centrosome; COS7 cells show a reduced uptake of transferrin and low- density lipoprotein complex).		G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CACTTACATCCGGGAACGGGA	0.527000			"""F, N, Splice, Mis, O"""		ETP ALL								16	43					0	0	0.007413	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110510897	110510897	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:110510897G>A	ENST00000378402.5	+	67	10829	c.10725G>A	c.(10723-10725)ggG>ggA	p.G3575G		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3575					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)			GGAGAAGTGGGATTTGTTGGC	0.393000										HNSCC(38;0.096)			10	20					0	0	0.001368	0	0
CACNA1E	777	broad.mit.edu	37	1	181764100	181764100	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:181764100G>A	ENST00000526775.1	+	44	6107	c.5942G>A	c.(5941-5943)aGt>aAt	p.S1981N	CACNA1E_ENST00000360108.3_Missense_Mutation_p.S2024N|CACNA1E_ENST00000367573.2_Missense_Mutation_p.S2043N|CACNA1E_ENST00000357570.5_Missense_Mutation_p.S1994N|CACNA1E_ENST00000367567.4_Missense_Mutation_p.S1607N|CACNA1E_ENST00000367570.1_Missense_Mutation_p.S2000N|CACNA1E_ENST00000358338.5_Missense_Mutation_p.S1932N	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2043					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GAGCGAAGCAGTGAAAATACC	0.527000													13	62					0	0	0.001368	0	0
TECPR2	9895	broad.mit.edu	37	14	102881014	102881014	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:102881014C>T	ENST00000359520.7	+	5	748	c.522C>T	c.(520-522)tcC>tcT	p.S174S	TECPR2_ENST00000561228.1_3'UTR|TECPR2_ENST00000558678.1_Silent_p.S174S	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	174							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						AGCCATCTTCCATTGTGCAGC	0.493000													37	69					0	0	0.006999	0	0
NPFFR2	10886	broad.mit.edu	37	4	72994359	72994359	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:72994359G>A	ENST00000308744.6	+	2	455	c.357G>A	c.(355-357)tgG>tgA	p.W119*	NPFFR2_ENST00000358749.3_Nonsense_Mutation_p.W17*|NPFFR2_ENST00000344413.5_Intron|NPFFR2_ENST00000395999.1_Nonsense_Mutation_p.W20*	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	119					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			ATCCCATCTGGAATGTCAATG	0.358000													10	20					0	0	0.008291	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702972	27702972	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:27702972C>T	ENST00000438700.3	-	1	325	c.208G>A	c.(208-210)Gag>Aag	p.E70K		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	70					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						TCGTCCCCCTCTGGCAGGGGT	0.716000													23	50					0	0	0.002299	0	0
KATNB1	10300	broad.mit.edu	37	16	57775705	57775705	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:57775705C>T	ENST00000379661.3	+	3	539	c.147C>T	c.(145-147)tcC>tcT	p.S49S		NM_005886.2	NP_005877.2	Q9BVA0	KTNB1_HUMAN	katanin p80 (WD repeat containing) subunit B 1	49	Interaction with centrosomes.|Interaction with dynein (By similarity).				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				ACCTGTGGTCCATCAACAAGC	0.662000													5	16					0	0	0.000602	0	0
CR2	1380	broad.mit.edu	37	1	207643227	207643227	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:207643227G>A	ENST00000367057.3	+	6	1194	c.1005G>A	c.(1003-1005)tgG>tgA	p.W335*	CR2_ENST00000367059.3_Nonsense_Mutation_p.W335*|CR2_ENST00000458541.2_Nonsense_Mutation_p.W335*|CR2_ENST00000367058.3_Nonsense_Mutation_p.W335*|CR2_ENST00000485707.1_3'UTR	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	335	Sushi 5.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	p.W335*(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CTGGGACCTGGAGTGGCCCTG	0.522000													14	34					0	0	0.002450	0	0
RFX6	222546	broad.mit.edu	37	6	117246749	117246749	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:117246749C>T	ENST00000332958.2	+	16	1828	c.1812C>T	c.(1810-1812)tcC>tcT	p.S604S		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	604					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CTCTGCCATCCAGTCAACCTG	0.542000													17	23					0	0	0.006122	0	0
PPP2R3A	5523	broad.mit.edu	37	3	135720944	135720944	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:135720944C>T	ENST00000264977.3	+	2	1221	c.604C>T	c.(604-606)Ctt>Ttt	p.L202F	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	202					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TTCCATGTTTCTTCAAAACTT	0.388000													13	61					0	0	0.003163	0	0
OR4K5	79317	broad.mit.edu	37	14	20389067	20389067	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:20389067T>C	ENST00000315915.4	+	1	327	c.302T>C	c.(301-303)aTt>aCt	p.I101T		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATAGCCCAAATTTTCTTTATT	0.418000													48	126					0	0	0.003610	0	0
SOX11	6664	broad.mit.edu	37	2	5833756	5833756	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:5833756G>A	ENST00000322002.3	+	1	958	c.903G>A	c.(901-903)gcG>gcA	p.A301A		NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	301					cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		GGGCCGGCGCGACCTCGGGCG	0.726000													3	6					0	0	0.004672	0	0
SLC22A9	114571	broad.mit.edu	37	11	63173968	63173968	+	Splice_Site	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:63173968G>A	ENST00000279178.3	+	7	1322		c.e7-1		SLC22A9_ENST00000310969.4_Splice_Site	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9						transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						AATCATCACAGATTTGCAAAC	0.398000													23	25					0	0	0.003330	0	0
ZNF556	80032	broad.mit.edu	37	19	2878084	2878084	+	Silent	SNP	G	G	A	rs45599940	byFrequency	TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:2878084G>A	ENST00000586426.1	+	4	1212	c.1125G>A	c.(1123-1125)ggG>ggA	p.G375G	ZNF556_ENST00000307635.2_Silent_p.G376G			Q9HAH1	ZN556_HUMAN	zinc finger protein 556	376					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				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)		AAACGTGTGGGAAAACGTATG	0.502000													11	36					0	0	0.008291	0	0
VARS2	57176	broad.mit.edu	37	6	30886611	30886611	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:30886611G>A	ENST00000321897.5	+	10	1625	c.993G>A	c.(991-993)gaG>gaA	p.E331E	VARS2_ENST00000416670.2_Silent_p.E331E|VARS2_ENST00000542001.1_Silent_p.E191E|VARS2_ENST00000541562.1_Silent_p.E361E			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	331					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						CAGATGCAGAGGTTGTGGTAG	0.512000													13	37					0	0	0.001855	0	0
TBXAS1	6916	broad.mit.edu	37	7	139706935	139706935	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:139706935G>A	ENST00000263552.6	+	14	1720	c.1182G>A	c.(1180-1182)ctG>ctA	p.L394L	TBXAS1_ENST00000414508.2_Silent_p.L394L|TBXAS1_ENST00000425687.1_Silent_p.L326L|TBXAS1_ENST00000416849.2_Silent_p.L440L|TBXAS1_ENST00000411653.1_Silent_p.L393L|TBXAS1_ENST00000448866.1_Silent_p.L393L|TBXAS1_ENST00000458722.1_Silent_p.L439L|TBXAS1_ENST00000336425.5_Silent_p.L393L|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000436047.2_Silent_p.L394L	NM_001130966.2	NP_001124438.1	P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	393					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					TGCCCTATCTGGACATGGTGA	0.602000													44	151					0	0	0.003214	0	0
CRIPT	9419	broad.mit.edu	37	2	46850910	46850910	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:46850910C>T	ENST00000238892.3	+	4	277	c.145C>T	c.(145-147)Cca>Tca	p.P49S	CRIPT_ENST00000486447.1_3'UTR	NM_014171.4	NP_054890.1	Q9P021	CRIPT_HUMAN	cysteine-rich PDZ-binding protein	49						cell junction|cytoplasm|dendritic spine				kidney(1)|large_intestine(1)|lung(2)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			TAGATTTGATCCATATGGAAA	0.353000													6	13					0	0	0.001168	0	0
GRIK1	2897	broad.mit.edu	37	21	31045476	31045476	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr21:31045476G>A	ENST00000399914.1	-	4	1074	c.553C>T	c.(553-555)Cgt>Tgt	p.R185C	GRIK1_ENST00000327783.4_Missense_Mutation_p.R185C|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000399913.1_Missense_Mutation_p.R185C|GRIK1_ENST00000389124.2_Missense_Mutation_p.R185C|GRIK1_ENST00000309434.7_Missense_Mutation_p.R185C|GRIK1_ENST00000535441.1_Missense_Mutation_p.R185C|GRIK1_ENST00000399907.1_Missense_Mutation_p.R185C|GRIK1_ENST00000389125.3_Missense_Mutation_p.R185C|GRIK1_ENST00000399909.1_Missense_Mutation_p.R185C			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	185					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	TCTTGTAGACGAATTAGACCT	0.393000													17	37					0	0	0.004007	0	0
PACSIN1	29993	broad.mit.edu	37	6	34497569	34497569	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:34497569G>A	ENST00000538621.1	+	6	984	c.739G>A	c.(739-741)Gag>Aag	p.E247K	PACSIN1_ENST00000244458.2_Missense_Mutation_p.E247K|PACSIN1_ENST00000374043.2_Missense_Mutation_p.E205K	NM_001199583.1	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	247					endocytosis		protein kinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						CTTCCTCAAGGAGGTGCTGCT	0.572000													8	21					0	0	0.004482	0	0
BMPER	168667	broad.mit.edu	37	7	34118718	34118718	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:34118718C>T	ENST00000297161.2	+	13	1702	c.1328C>T	c.(1327-1329)tCg>tTg	p.S443L	BMPER_ENST00000426693.1_Missense_Mutation_p.S443L	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	443	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TGGAACGGCTCGCGCATCGCG	0.667000													17	46					0	0	0.004656	0	0
ACADSB	36	broad.mit.edu	37	10	124802592	124802592	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:124802592G>A	ENST00000358776.4	+	6	726	c.712G>A	c.(712-714)Gat>Aat	p.D238N	ACADSB_ENST00000368869.4_Missense_Mutation_p.D136N|ACADSB_ENST00000496730.2_3'UTR	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain	238					branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)	CTTCTTAGTAGATCGTGATAC	0.403000													59	35					0	0	0.003610	0	0
RTN1	6252	broad.mit.edu	37	14	60212694	60212694	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:60212694G>A	ENST00000267484.5	-	2	1082	c.747C>T	c.(745-747)atC>atT	p.I249I		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	249					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GGTCCTTGATGATTTTTCCCT	0.428000													53	100					0	0	0.003610	0	0
OSM	5008	broad.mit.edu	37	22	30660378	30660378	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr22:30660378C>T	ENST00000215781.2	-	3	293	c.253G>A	c.(253-255)Gag>Aag	p.E85K	OSM_ENST00000403389.1_Missense_Mutation_p.E64K|OSM_ENST00000403463.1_3'UTR	NM_020530.4	NP_065391.1	P13725	ONCM_HUMAN	oncostatin M	85					cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth	extracellular space|oncostatin-M receptor complex	cytokine activity|growth factor activity|oncostatin-M receptor binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|skin(3)	11			Epithelial(10;0.206)			CTCAGGGTCTCCTCACTGGGG	0.647000													15	31					0	0	0.004990	0	0
CTD-2587H24.5	0	broad.mit.edu	37	19	55678020	55678020	+	RNA	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:55678020G>A	ENST00000591665.1	+	0	1186																											GAAGCATGTGGGATGGGACCA	0.602000													20	57					0	0	0.001882	0	0
DDR1	780	broad.mit.edu	37	6	30863237	30863237	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:30863237C>T	ENST00000324771.8	+	14	2118	c.1570C>T	c.(1570-1572)Cct>Tct	p.P524S	DDR1_ENST00000454612.2_Intron|DDR1_ENST00000376575.3_Missense_Mutation_p.P524S|DDR1_ENST00000376570.4_Intron|DDR1_ENST00000361741.4_Silent_p.P227P|DDR1_ENST00000446312.1_Intron|DDR1_ENST00000508312.1_Intron|DDR1_ENST00000376569.3_Intron|DDR1_ENST00000376567.2_Intron|DDR1_ENST00000452441.1_Missense_Mutation_p.P524S|DDR1_ENST00000376568.3_Missense_Mutation_p.P524S|DDR1_ENST00000418800.2_Intron|DDR1_ENST00000513240.1_Missense_Mutation_p.P524S			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	524	Gly/Pro-rich.				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CGCCCGTCCCCCTCGAGGCCC	0.677000													71	169					0	0	0.003610	0	0
THSD4	79875	broad.mit.edu	37	15	72020948	72020948	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:72020948G>A	ENST00000355327.3	+	9	1552	c.1418G>A	c.(1417-1419)gGa>gAa	p.G473E	THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000357769.4_Missense_Mutation_p.G113E|THSD4_ENST00000261862.6_Missense_Mutation_p.G473E			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	473						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GATCGACCAGGAAAATACGAG	0.522000													35	93					0	0	0.003271	0	0
AUTS2	26053	broad.mit.edu	37	7	70255637	70255637	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:70255637G>A	ENST00000342771.4	+	19	3756	c.3435G>A	c.(3433-3435)cgG>cgA	p.R1145R	AUTS2_ENST00000406775.2_Silent_p.R1121R	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1145	His-rich.									breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		AGCACGAGCGGGGAGGCCACC	0.692000													10	12					0	0	0.006214	0	0
NXPE4	54827	broad.mit.edu	37	11	114453576	114453576	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:114453576G>A	ENST00000375478.3	-	3	444	c.264C>T	c.(262-264)ttC>ttT	p.F88F	NXPE4_ENST00000424261.2_5'UTR	NM_001077639.1	NP_001071107.1			neurexophilin and PC-esterase domain family, member 4																		TCACGTGGGTGAAAGGTCTGG	0.498000													46	66					0	0	0.003610	0	0
COL14A1	7373	broad.mit.edu	37	8	121381648	121381648	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:121381648G>A	ENST00000297848.3	+	47	5505	c.5235G>A	c.(5233-5235)ggG>ggA	p.G1745G	COL14A1_ENST00000309791.4_Silent_p.G1745G|COL14A1_ENST00000247781.3_Silent_p.G1650G	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1745	Triple-helical region 2 (COL1).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GTCATCTGGGGGTTCCTGGAC	0.592000													27	53					0	0	0.005443	0	0
PRSS1	5644	broad.mit.edu	37	7	142459658	142459658	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:142459658C>T	ENST00000486171.1	+	4	293	c.276C>T	c.(274-276)atC>atT	p.I92I	PRSS1_ENST00000311737.7_Silent_p.I78I			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	78	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			AGCACAACATCGAAGTCCTGG	0.547000													5	253					0	0	0.001984	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156939110	156939110	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:156939110C>T	ENST00000368194.3	-	10	1828	c.789G>A	c.(787-789)ttG>ttA	p.L263L	ARHGEF11_ENST00000361409.2_Silent_p.L223L	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	223					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TCCCAGAGTCCAAGCCACTGT	0.562000													5	20					0	0	0.001168	0	0
LCT	3938	broad.mit.edu	37	2	136566496	136566496	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:136566496C>T	ENST00000264162.2	-	8	3431	c.3421G>A	c.(3421-3423)Gaa>Aaa	p.E1141K		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1141	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TCAGCGGCTTCCACATCTCTG	0.552000													36	49					0	0	0.003271	0	0
ARSI	340075	broad.mit.edu	37	5	149676816	149676816	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:149676816G>A	ENST00000328668.7	-	2	2250	c.1671C>T	c.(1669-1671)ttC>ttT	p.F557F		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	557						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGAGTTTACGGAAAAAGGATC	0.532000													33	76					0	0	0.003271	0	0
FAM168A	23201	broad.mit.edu	37	11	73130926	73130926	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:73130926C>T	ENST00000064778.4	-	5	581	c.297G>A	c.(295-297)gcG>gcA	p.A99A	FAM168A_ENST00000450446.2_Silent_p.A90A|FAM168A_ENST00000356467.4_Silent_p.A90A			Q92567	F168A_HUMAN	family with sequence similarity 168, member A	99								p.A90A(1)		endometrium(3)|kidney(1)|lung(1)	5						TACTGAAAGCCGCAGAGGATG	0.498000													14	20					0	0	0.004007	0	0
C1orf216	127703	broad.mit.edu	37	1	36181741	36181741	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:36181741G>A	ENST00000270815.4	-	2	952	c.182C>T	c.(181-183)tCc>tTc	p.S61F		NM_152374.1	NP_689587.1	Q8TAB5	CA216_HUMAN	chromosome 1 open reading frame 216	61										kidney(2)|lung(3)|skin(2)|urinary_tract(1)	8		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				TGACTCAGAGGAGCTCCTCCT	0.602000											OREG0013357	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	63					0	0	0.006320	0	0
OR2T2	401992	broad.mit.edu	37	1	248616209	248616209	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:248616209G>A	ENST00000342927.3	+	1	133	c.111G>A	c.(109-111)gtG>gtA	p.V37V		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	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)			CCATCTTTGTGGTGGCTATAA	0.527000													35	211					0	0	0.003755	0	0
MUC16	94025	broad.mit.edu	37	19	9075211	9075211	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:9075211G>A	ENST00000397910.4	-	3	12438	c.12235C>T	c.(12235-12237)Ctg>Ttg	p.L4079L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4081	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						AAGTTAGACAGCCTGGTGATG	0.493000													23	76					0	0	0.004656	0	0
KIAA2022	340533	broad.mit.edu	37	X	73960458	73960458	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:73960458C>T	ENST00000373468.1	-	3	4585	c.3934G>A	c.(3934-3936)Gaa>Aaa	p.E1312K	KIAA2022_ENST00000055682.5_Missense_Mutation_p.E1312K			Q5QGS0	K2022_HUMAN	KIAA2022	1312					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TCCTGAAATTCCCGTTGGTCA	0.522000													41	76					0	0	0.002522	0	0
CLIP2	7461	broad.mit.edu	37	7	73815895	73815895	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:73815895G>A	ENST00000223398.6	+	16	3454	c.3127G>A	c.(3127-3129)Gag>Aag	p.E1043K	CLIP2_ENST00000361545.5_Missense_Mutation_p.E1008K|CLIP2_ENST00000395060.1_Missense_Mutation_p.E1043K	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	1043						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						TCAGAAACAAGAGGTGAGGGG	0.557000											OREG0018117	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	17					0	0	0.006214	0	0
UBR4	23352	broad.mit.edu	37	1	19433125	19433125	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:19433125G>A	ENST00000375267.2	-	83	12334	c.12331C>T	c.(12331-12333)Cgt>Tgt	p.R4111C	UBR4_ENST00000375254.3_Missense_Mutation_p.R4111C|UBR4_ENST00000375217.2_Missense_Mutation_p.R4104C|UBR4_ENST00000375226.2_Missense_Mutation_p.R4087C			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	4111					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TTCCCCCGACGACTCAGGAAC	0.557000													60	63					0	0	0.003610	0	0
SI	6476	broad.mit.edu	37	3	164785148	164785148	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:164785148C>T	ENST00000264382.3	-	6	677	c.615G>A	c.(613-615)agG>agA	p.R205R		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	205	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CGTTGCTTTTCCTAATAACTT	0.308000										HNSCC(35;0.089)			16	63					0	0	0.004990	0	0
GLRB	2743	broad.mit.edu	37	4	158057699	158057699	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:158057699G>A	ENST00000264428.4	+	5	646	c.376G>A	c.(376-378)Gat>Aat	p.D126N	GLRB_ENST00000509282.1_Missense_Mutation_p.D126N|GLRB_ENST00000512619.1_Intron|GLRB_ENST00000541722.1_Missense_Mutation_p.D126N	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	126					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	TAGGGGTTCAGATGCACTGAC	0.403000													22	49					0	0	0.001882	0	0
MBTPS2	51360	broad.mit.edu	37	X	21871589	21871589	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:21871589C>T	ENST00000365779.2	+	5	719	c.638C>T	c.(637-639)tCg>tTg	p.S213L	MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000379484.5_Missense_Mutation_p.S213L			O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	213					cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						CAACTTATATCGCCAGTCCAG	0.353000													43	99					0	0	0.003610	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51645996	51645996	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:51645996C>T	ENST00000317643.6	+	1	439	c.370C>T	c.(370-372)Cgt>Tgt	p.R124C	SIGLEC7_ENST00000600577.1_Missense_Mutation_p.R124C|SIGLEC7_ENST00000305628.7_Missense_Mutation_p.R124C	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	124					cell adhesion	integral to plasma membrane	receptor activity|sugar binding	p.R124C(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		ATACTTCTTTCGTATGGAGAA	0.478000													31	51					0	0	0.007291	0	0
OR10G2	26534	broad.mit.edu	37	14	22102351	22102351	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:22102351G>A	ENST00000542433.1	-	1	745	c.648C>T	c.(646-648)ttC>ttT	p.F216F		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		GAATTAACATGAAGCAACTGG	0.557000													24	42					0	0	0.002299	0	0
PLA2G4F	255189	broad.mit.edu	37	15	42437981	42437981	+	Missense_Mutation	SNP	C	C	T	rs149948316		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:42437981C>T	ENST00000397272.3	-	15	1752	c.1661G>A	c.(1660-1662)cGg>cAg	p.R554Q	PLA2G4F_ENST00000382396.4_Missense_Mutation_p.R552Q	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	552	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		GTAACAGATCCGGGGTTCAGG	0.627000													21	47					0	0	0.010504	0	0
SNAP91	9892	broad.mit.edu	37	6	84269849	84269849	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:84269849C>T	ENST00000428679.2	-	28	3198	c.2605G>A	c.(2605-2607)Gga>Aga	p.G869R	SNAP91_ENST00000437520.1_Missense_Mutation_p.G562R|SNAP91_ENST00000195649.6_Missense_Mutation_p.G864R|SNAP91_ENST00000520302.1_Missense_Mutation_p.G839R|SNAP91_ENST00000521485.1_Missense_Mutation_p.G864R|SNAP91_ENST00000521743.1_Missense_Mutation_p.G869R|SNAP91_ENST00000369694.2_Missense_Mutation_p.G869R|SNAP91_ENST00000520213.1_Missense_Mutation_p.G562R|SNAP91_ENST00000439399.2_Missense_Mutation_p.G869R			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	869	Pro-rich.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GCGGCAGCTCCAAAGGGGGGC	0.507000													20	35					0	0	0.003330	0	0
MYOM3	127294	broad.mit.edu	37	1	24434504	24434504	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:24434504G>A	ENST00000330966.7	-	3	386	c.224C>T	c.(223-225)aCg>aTg	p.T75M	MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000374434.3_Missense_Mutation_p.T74M|MYOM3_ENST00000329601.7_Missense_Mutation_p.T74M			Q5VTT5	MYOM3_HUMAN	myomesin 3	74										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GGAGGAGGCCGTCAGAGCCAG	0.637000													30	58					0	0	0.004289	0	0
ZNF479	90827	broad.mit.edu	37	7	57188158	57188158	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:57188158C>T	ENST00000331162.4	-	5	1234	c.964G>A	c.(964-966)Gag>Aag	p.E322K		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			CAGGGTTTCTCTCCAGTATGA	0.448000													11	22					0	0	0.004007	0	0
PPP1R36	145376	broad.mit.edu	37	14	65054985	65054985	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:65054985G>A	ENST00000298705.1	+	11	1150	c.1054G>A	c.(1054-1056)Gga>Aga	p.G352R	RP11-973N13.3_ENST00000554454.1_RNA|RP11-973N13.3_ENST00000556634.1_RNA	NM_172365.1	NP_758953.1	Q96LQ0	CN050_HUMAN	protein phosphatase 1, regulatory subunit 36	352																	AAAGCATGTGGGAACTCTGGA	0.527000													28	47					0	0	0.007291	0	0
FBP1	2203	broad.mit.edu	37	9	97369204	97369204	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:97369204C>T	ENST00000415431.1	-	6	827	c.598G>A	c.(598-600)Gat>Aat	p.D200N	FBP1_ENST00000375326.4_Missense_Mutation_p.D200N	NM_001127628.1	NP_001121100.1	P09467	F16P1_HUMAN	fructose-1,6-bisphosphatase 1	200					gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding			kidney(1)|liver(1)|lung(1)	3		Acute lymphoblastic leukemia(62;0.136)			Adenosine monophosphate(DB00131)	ATCTTCACATCCTTGTCCACC	0.507000													26	65					0	0	0.003954	0	0
ATP8A1	10396	broad.mit.edu	37	4	42448649	42448649	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:42448649C>T	ENST00000381668.5	-	31	3140	c.2909G>A	c.(2908-2910)gGa>gAa	p.G970E	ATP8A1_ENST00000264449.10_Missense_Mutation_p.G955E	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	970					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TTTCCCATTTCCAAATGCAGT	0.398000													11	35					0	0	0.001368	0	0
TGM7	116179	broad.mit.edu	37	15	43577113	43577113	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:43577113G>A	ENST00000452443.2	-	7	907	c.903C>T	c.(901-903)tcC>tcT	p.S301S		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	301					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	AACGGAAATTGGAAACAACAC	0.418000													20	47					0	0	0.007413	0	0
MYH2	4620	broad.mit.edu	37	17	10428663	10428663	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:10428663C>T	ENST00000245503.5	-	33	4924	c.4540G>A	c.(4540-4542)Gag>Aag	p.E1514K	MYH2_ENST00000397183.2_Missense_Mutation_p.E1514K|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1514					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TCAGAAATCTCCTCTGTTGTT	0.378000													13	42					0	0	0.002450	0	0
CCDC178	374864	broad.mit.edu	37	18	30950043	30950043	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:30950043C>T	ENST00000383096.3	-	6	501	c.319G>A	c.(319-321)Gag>Aag	p.E107K	CCDC178_ENST00000583930.1_Missense_Mutation_p.E107K|CCDC178_ENST00000579916.1_Missense_Mutation_p.E107K|CCDC178_ENST00000406524.2_Missense_Mutation_p.E107K|CCDC178_ENST00000403303.1_Missense_Mutation_p.E107K|CCDC178_ENST00000402325.1_Missense_Mutation_p.E107K|CCDC178_ENST00000579947.1_Missense_Mutation_p.E107K|CCDC178_ENST00000300227.8_Missense_Mutation_p.E107K					coiled-coil domain containing 178																		ATTTTGGACTCCACATCTTGG	0.383000													15	46					0	0	0.002450	0	0
ZNF404	342908	broad.mit.edu	37	19	44377351	44377351	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:44377351C>T	ENST00000587539.1	-	3	1014	c.1015G>A	c.(1015-1017)Ggc>Agc	p.G339S	ZNF404_ENST00000324394.6_Missense_Mutation_p.G337S	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	339					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				AGGCTTGAGCCCTTACCAAAA	0.398000													20	48					0	0	0.008871	0	0
BTNL3	10917	broad.mit.edu	37	5	180432688	180432688	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:180432688G>A	ENST00000342868.6	+	8	1401	c.1217G>A	c.(1216-1218)cGa>cAa	p.R406Q		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	406	B30.2/SPRY.				lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			CCTCCTACACGAGTAGGGGTC	0.483000													23	71					0	0	0.002299	0	0
TTN	7273	broad.mit.edu	37	2	179597750	179597750	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:179597750G>A	ENST00000589042.1	-	55	16377	c.16153C>T	c.(16153-16155)Ccc>Tcc	p.P5385S	TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P5068S|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P4141S|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5068	Ig-like 34.						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)			ACCCTCATGGGGAGGGAGCCT	0.473000													9	26					0	0	0.000978	0	0
STRA6	64220	broad.mit.edu	37	15	74473253	74473253	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:74473253C>T	ENST00000323940.5	-	18	1955	c.1710G>A	c.(1708-1710)ttG>ttA	p.L570L	STRA6_ENST00000395105.4_Silent_p.L570L|STRA6_ENST00000563965.1_Silent_p.L609L|STRA6_ENST00000423167.2_Silent_p.L561L|STRA6_ENST00000449139.2_Silent_p.L570L|STRA6_ENST00000535552.1_Silent_p.L607L|STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000574278.1_Silent_p.L585L|STRA6_ENST00000416286.3_Silent_p.L562L	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6	570					adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						CTTCAATCTTCAAGAAGTTTC	0.612000													30	80					0	0	0.002096	0	0
ESCO2	157570	broad.mit.edu	37	8	27634208	27634208	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:27634208G>A	ENST00000305188.8	+	3	621	c.383G>A	c.(382-384)gGa>gAa	p.G128E	ESCO2_ENST00000523910.1_3'UTR|ESCO2_ENST00000397418.2_5'UTR	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	128					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		AAAATGCAAGGAAAACCAGTC	0.353000									SC Phocomelia syndrome				12	20					0	0	0.002450	0	0
LRRC37B	114659	broad.mit.edu	37	17	30348607	30348607	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:30348607C>T	ENST00000327564.7	+	1	584	c.523C>T	c.(523-525)Cag>Tag	p.Q175*	LRRC37B_ENST00000584368.1_Nonsense_Mutation_p.Q160*|LRRC37B_ENST00000543378.2_Nonsense_Mutation_p.Q66*|LRRC37B_ENST00000394713.3_Nonsense_Mutation_p.Q148*|LRRC37B_ENST00000341671.7_Nonsense_Mutation_p.Q148*			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	148						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				GGCCCTAGTTCAGCTTCCTCG	0.507000													26	66					0	0	0.004656	0	0
FAT3	120114	broad.mit.edu	37	11	92088481	92088481	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:92088481G>A	ENST00000298047.6	+	1	3220	c.3203G>A	c.(3202-3204)cGa>cAa	p.R1068Q	FAT3_ENST00000409404.2_Missense_Mutation_p.R1068Q|FAT3_ENST00000541502.1_Missense_Mutation_p.R1068Q|FAT3_ENST00000525166.1_Missense_Mutation_p.R918Q			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1068	Cadherin 10.				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)				GTGACTGCTCGAGATGAAGAC	0.483000										TCGA Ovarian(4;0.039)			152	206					0	0	0.003610	0	0
NT5C1B	93034	broad.mit.edu	37	2	18767584	18767584	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:18767584G>A	ENST00000304081.4	-	3	294	c.194C>T	c.(193-195)tCc>tTc	p.S65F	NT5C1B_ENST00000460052.1_5'UTR|NT5C1B_ENST00000359846.2_Missense_Mutation_p.S125F|NT5C1B_ENST00000600945.1_Missense_Mutation_p.S125F|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.S125F	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				TGGGCTCCGGGATATTCTAGA	0.493000													27	50					0	0	0.006320	0	0
C1orf177	163747	broad.mit.edu	37	1	55272741	55272741	+	Silent	SNP	T	T	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:55272741T>G	ENST00000358193.3	+	2	231	c.177T>G	c.(175-177)cgT>cgG	p.R59R	C1orf177_ENST00000371273.3_Silent_p.R59R	NM_152607.2	NP_689820.2	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	59										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						ACTCCACGCGTTATTCTACCC	0.572000													63	91					0	0	0.003610	0	0
ASIC2	40	broad.mit.edu	37	17	32483156	32483156	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:32483156G>A	ENST00000359872.6	-	1	1157	c.396C>T	c.(394-396)tcC>tcT	p.S132S		NM_001094.4	NP_001085.2	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	132					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	CCTCCAGCACGGAGGGGTCAG	0.612000													37	57					0	0	0.006999	0	0
CCDC68	80323	broad.mit.edu	37	18	52605268	52605268	+	Missense_Mutation	SNP	C	C	T	rs4294894		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:52605268C>T	ENST00000591504.1	-	5	539	c.265G>A	c.(265-267)Gat>Aat	p.D89N	CCDC68_ENST00000432185.1_Missense_Mutation_p.D89N|CCDC68_ENST00000337363.4_Missense_Mutation_p.D89N	NM_025214.2	NP_079490.1	Q9H2F9	CCD68_HUMAN	coiled-coil domain containing 68	89										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		ATAAGCAAATCCAAACTGCAA	0.353000													5	20					0	0	0.000602	0	0
AKR1CL1	340811	broad.mit.edu	37	10	5203849	5203849	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:5203849G>A	ENST00000334314.3	-	3	424	c.348C>T	c.(346-348)ctC>ctT	p.L116L						aldo-keto reductase family 1, member C-like 1											cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						GAATAATGAAGAGATCTACAT	0.413000													9	23					0	0	0.004482	0	0
CNGB3	54714	broad.mit.edu	37	8	87738864	87738864	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:87738864G>A	ENST00000320005.5	-	3	280	c.233C>T	c.(232-234)tCc>tTc	p.S78F	CNGB3_ENST00000519777.1_5'UTR|RP11-386D6.1_ENST00000519041.1_RNA	NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	78					signal transduction|visual perception	integral to membrane	cGMP binding	p.S78F(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						ATCTCCAGAGGAATTTTTCTT	0.428000													71	172					0	0	0.003610	0	0
MYH3	4621	broad.mit.edu	37	17	10533023	10533023	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:10533023T>C	ENST00000583535.1	-	40	5774	c.5687A>G	c.(5686-5688)aAa>aGa	p.K1896R	MYH3_ENST00000226209.7_Missense_Mutation_p.K1896R	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1896					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CTTTCGGAATTTGGTGAGATG	0.532000													26	56					0	0	0.004656	0	0
MUC16	94025	broad.mit.edu	37	19	9005631	9005631	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:9005631G>A	ENST00000397910.4	-	46	39978	c.39775C>T	c.(39775-39777)Ctg>Ttg	p.L13259L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13261	SEA 8.				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						AGCTGGCTCAGCTCCCAGTAT	0.562000													40	112					0	0	0.008740	0	0
AFF4	27125	broad.mit.edu	37	5	132267893	132267893	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:132267893T>G	ENST00000265343.5	-	4	1319	c.940A>C	c.(940-942)Agc>Cgc	p.S314R	AFF4_ENST00000378595.3_Missense_Mutation_p.S314R|AFF4_ENST00000491831.1_5'UTR	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	314	Ser-rich.				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCCACACAGCTCACATCACCA	0.308000													6	19					0	0	0.001168	0	0
UNC13C	440279	broad.mit.edu	37	15	54306661	54306661	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:54306661G>A	ENST00000545554.1	+	1	1561	c.1561G>A	c.(1561-1563)Gaa>Aaa	p.E521K	UNC13C_ENST00000260323.11_Missense_Mutation_p.E521K|UNC13C_ENST00000537900.1_Missense_Mutation_p.E521K			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	521					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)		AGATATCTTGGAAAAGCAAAC	0.373000													17	37					0	0	0.006122	0	0
PRMT5	10419	broad.mit.edu	37	14	23392336	23392336	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:23392336G>A	ENST00000324366.8	-	13	1632	c.1409C>T	c.(1408-1410)tCc>tTc	p.S470F	PRMT5-AS1_ENST00000595662.1_RNA|PRMT5-AS1_ENST00000424245.2_RNA|PRMT5-AS1_ENST00000599580.1_RNA|PRMT5_ENST00000216350.8_Missense_Mutation_p.S409F|PRMT5_ENST00000397440.4_Missense_Mutation_p.S299F|PRMT5_ENST00000553897.1_Missense_Mutation_p.S426F|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5_ENST00000397441.2_Missense_Mutation_p.S453F|PRMT5_ENST00000538452.1_Missense_Mutation_p.S364F|PRMT5-AS1_ENST00000457443.1_RNA	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	470					cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		AGCCAGAAAGGAAGTGTACTC	0.512000													8	17					0	0	0.004482	0	0
PIWIL4	143689	broad.mit.edu	37	11	94352941	94352941	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:94352941G>A	ENST00000299001.6	+	18	2395	c.2184G>A	c.(2182-2184)gtG>gtA	p.V728V	RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA|PIWIL4_ENST00000537419.1_Silent_p.V79V	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	728	Piwi.				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GACTGTCGGTGATTGTGGTCA	0.383000													12	9					0	0	0.002450	0	0
DSC1	1823	broad.mit.edu	37	18	28742522	28742522	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:28742522G>A	ENST00000257197.3	-	1	297	c.36C>T	c.(34-36)ttC>ttT	p.F12F	DSC1_ENST00000257198.5_Silent_p.F12F|RP11-408H20.2_ENST00000581836.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	12					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			GCTGCTTACAGAAGATGCTCC	0.542000													14	38					0	0	0.003163	0	0
ZNF79	7633	broad.mit.edu	37	9	130207399	130207399	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:130207399G>A	ENST00000342483.5	+	5	1826	c.1420G>A	c.(1420-1422)Gaa>Aaa	p.E474K	ZNF79_ENST00000543471.1_Missense_Mutation_p.E450K	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	474					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						GAAACCCTACGAATGCAGCGA	0.507000													57	142					0	0	0.003610	0	0
UNC13C	440279	broad.mit.edu	37	15	54614145	54614145	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:54614145C>T	ENST00000545554.1	+	13	4277	c.4277C>T	c.(4276-4278)tCa>tTa	p.S1426L	UNC13C_ENST00000260323.11_Missense_Mutation_p.S1426L|UNC13C_ENST00000537900.1_Missense_Mutation_p.S1424L			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1426					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)		AGGCACTTTTCATGTCTGTCT	0.368000													4	4					0	0	0.000602	0	0
CREBBP	1387	broad.mit.edu	37	16	3786779	3786779	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:3786779C>T	ENST00000262367.5	-	27	5241	c.4432G>A	c.(4432-4434)Gaa>Aaa	p.E1478K	CREBBP_ENST00000382070.3_Missense_Mutation_p.E1440K	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1478	Cys/His-rich.|Interaction with TRERF1.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TCATCTCCTTCACTTGGAGGA	0.512000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						51	68					0	0	0.003610	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204433169	204433169	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:204433169C>T	ENST00000367187.3	-	6	1837	c.1281G>A	c.(1279-1281)aaG>aaA	p.K427K	PIK3C2B_ENST00000424712.2_Silent_p.K427K	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	427					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GCCCGCAGGGCTTTAGCACAA	0.547000													38	206					0	0	0.007835	0	0
MAPK4	5596	broad.mit.edu	37	18	48190513	48190513	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:48190513C>T	ENST00000400384.2	+	2	1221	c.185C>T	c.(184-186)gCg>gTg	p.A62V	MAPK4_ENST00000592595.1_Missense_Mutation_p.A62V|MAPK4_ENST00000540640.1_Intron|MAPK4_ENST00000588540.1_Missense_Mutation_p.A62V	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	62	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		ATGAAGCACGCGCTCCGAGAG	0.612000													19	46					0	0	0.007413	0	0
SLC5A1	6523	broad.mit.edu	37	22	32439338	32439338	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr22:32439338C>T	ENST00000266088.4	+	1	320	c.70C>T	c.(70-72)Cgc>Tgc	p.R24C		NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	24					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						CGAGCTCATTCGCAATGCAGC	0.612000													13	26					0	0	0.001368	0	0
ZNF598	90850	broad.mit.edu	37	16	2050131	2050131	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:2050131G>A	ENST00000563630.1	-	9	1496	c.1254C>T	c.(1252-1254)atC>atT	p.I418I	ZNF598_ENST00000562103.1_Silent_p.I418I|ZNF598_ENST00000431526.1_Silent_p.I473I			Q86UK7	ZN598_HUMAN	zinc finger protein 598	473						intracellular	zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						CTCTGGCAGGGATGGCGTACG	0.672000													22	23					0	0	0.002780	0	0
AFM	173	broad.mit.edu	37	4	74354356	74354356	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:74354356G>A	ENST00000226355.3	+	7	816	c.723G>A	c.(721-723)gcG>gcA	p.A241A		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	241	Albumin 2.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GATATATTGCGATACTCAGTC	0.338000													17	49					0	0	0.006122	0	0
MYOM3	127294	broad.mit.edu	37	1	24402672	24402672	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:24402672G>A	ENST00000330966.7	-	21	2843	c.2681C>T	c.(2680-2682)cCc>cTc	p.P894L	RP11-293P20.4_ENST00000429191.1_RNA|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000374434.3_Missense_Mutation_p.P893L|MYOM3_ENST00000329601.7_Missense_Mutation_p.P893L			Q5VTT5	MYOM3_HUMAN	myomesin 3	893	Fibronectin type-III 5.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CAGGAGCACGGGATCAGTGGG	0.617000													18	53					0	0	0.004990	0	0
APCS	325	broad.mit.edu	37	1	159557927	159557927	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:159557927C>T	ENST00000255040.2	+	2	198	c.101C>T	c.(100-102)tCt>tTt	p.S34F		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	34	Pentaxin.				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					CCTAGAGAATCTGTTACTGAT	0.423000													98	77					0	0	0.003610	0	0
IGKV1-8	28942	broad.mit.edu	37	2	89292187	89292187	+	RNA	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:89292187G>A	ENST00000495489.1	-	0	138																											AGAGAATGAGGATGGAGACTG	0.448000													64	168					0	0	0.003610	0	0
KIT	3815	broad.mit.edu	37	4	55593610	55593610	+	Missense_Mutation	SNP	T	T	C	rs121913517		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:55593610T>C	ENST00000288135.5	+	11	1773	c.1676T>C	c.(1675-1677)gTt>gCt	p.V559A		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	559			Missing (in GIST).|Missing (in GIST; somatic mutation).|V -> A (in GIST).|V -> D (in GIST; somatic mutation).		male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	p.V559D(58)|p.V559del(18)|p.W557_E561del(17)|p.V559A(16)|p.V559G(12)|p.K558_E562del(10)|p.W557_V559>C(9)|p.V559_E561del(8)|p.W557_V559del(7)|p.Q556_V560del(6)|p.V559_V560del(6)|p.K558_V560del(5)|p.K558_V559del(3)|p.W557_V560>C(3)|p.Y553_T574>S(3)|p.V559_G565del(3)|p.V555_I571del(3)|p.V555_V560del(3)|p.V555_P573del(3)|p.Q556_V560>H(3)|p.V555_V559del(3)|p.K558_V559>N(2)|p.Q556_L576del(2)|p.K550_V559del(2)|p.K558_V560>N(2)|p.K558_V559>SS(2)|p.W557_P573>S(2)|p.K558_N564del(2)|p.W557_Q575del(2)|p.V555_E562del(2)|p.W557_V560del(2)|p.Q556_V559del(2)|p.K558_V560>I(2)|p.V555_G565del(1)|p.Q556_N566>SNNLQLY(1)|p.Q556_V559>H(1)|p.V559K(1)|p.M552_E561>K(1)|p.V555_I563del(1)|p.K558_G565del(1)|p.E554_I571del(1)|p.K558_Q575del(1)|p.Q556_V560>F(1)|p.V555_Y570del(1)|p.M552_T574>TESA(1)|p.K558_D572del(1)|p.V559_I571del(1)|p.Q556_D572>PS(1)|p.Q556_D572del(1)|p.W557_E562del(1)|p.V555_N566>D(1)|p.V559_N564del(1)|p.V555_V560>V(1)|p.Q556_V560>HNLQLY(1)|p.Q556_E561del(1)|p.K558_L576>NV(1)|p.Q556_E561>HH(1)|p.W557_V560>F(1)|p.W557_I571del(1)|p.V559_L576del(1)|p.E554_N564del(1)|p.Q556_V560>TTF(1)|p.V559_E562del(1)|p.Q556_D572>H(1)|p.K558_Y570>N(1)|p.M552_D572del(1)|p.Y553_V559>E(1)|p.Q556_T574del(1)|p.P551_V559del>L(1)|p.Q556_P573del(1)|p.E554_D572del(1)|p.Q556_V559>HT(1)|p.E554_E562del(1)|p.Y553_V559del(1)|p.K558_G565>R(1)|p.V559_P573>A(1)|p.K558_V560>M(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CAGTGGAAGGTTGTTGAGGAG	0.388000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				18	45					0	0	0.006122	0	0
MYO3A	53904	broad.mit.edu	37	10	26414365	26414365	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:26414365G>A	ENST00000265944.5	+	19	2108	c.1942G>A	c.(1942-1944)Gaa>Aaa	p.E648K	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	648	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TGAGCTACAAGAAGCTCTCAC	0.433000													11	54					0	0	0.000978	0	0
CLK2	1196	broad.mit.edu	37	1	155233150	155233150	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:155233150G>A	ENST00000368361.4	-	13	1674	c.1359C>T	c.(1357-1359)ttC>ttT	p.F453F	CLK2_ENST00000536801.1_Silent_p.F453F|CLK2_ENST00000355560.4_Silent_p.F451F|CLK2_ENST00000361168.5_Silent_p.F452F|CLK2_ENST00000497188.1_5'UTR			P49760	CLK2_HUMAN	CDC-like kinase 2	453	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CAATCAGATCGAAGAGCTGGT	0.562000								Other conserved DNA damage response genes					72	33					0	0	0.003610	0	0
PSMC5	5705	broad.mit.edu	37	17	61908517	61908517	+	Silent	SNP	T	T	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:61908517T>C	ENST00000310144.6	+	8	1109	c.801T>C	c.(799-801)agT>agC	p.S267S	PSMC5_ENST00000375812.4_Silent_p.S259S|PSMC5_ENST00000581882.1_Silent_p.S259S|PSMC5_ENST00000580864.1_Silent_p.S259S	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5	267					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 programmed cell death|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|thyrotropin-releasing hormone receptor binding|transcription cofactor activity|transcription factor binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						GAGGGGACAGTGAAGTGCAGC	0.567000													36	113					0	0	0.005524	0	0
ZNF592	9640	broad.mit.edu	37	15	85326896	85326896	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:85326896G>A	ENST00000299927.3	+	1	1012	c.990G>A	c.(988-990)aaG>aaA	p.K330K	ZNF592_ENST00000560079.2_Silent_p.K330K			Q92610	ZN592_HUMAN	zinc finger protein 592	330					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGTCACCAAAGAGTCCCCGGA	0.542000													32	94					0	0	0.004289	0	0
NEDD4L	23327	broad.mit.edu	37	18	55992244	55992244	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:55992244T>A	ENST00000456986.1	+	9	767	c.167T>A	c.(166-168)gTt>gAt	p.V56D	NEDD4L_ENST00000586263.1_Missense_Mutation_p.V169D|NEDD4L_ENST00000356462.6_Missense_Mutation_p.V177D|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000431212.2_Missense_Mutation_p.V56D|NEDD4L_ENST00000400345.3_Missense_Mutation_p.V177D|NEDD4L_ENST00000357895.5_Missense_Mutation_p.V169D|NEDD4L_ENST00000256832.7_Missense_Mutation_p.V56D|NEDD4L_ENST00000456173.2_Missense_Mutation_p.V56D|NEDD4L_ENST00000435432.2_Missense_Mutation_p.V56D|NEDD4L_ENST00000256830.9_Missense_Mutation_p.V177D|NEDD4L_ENST00000382850.4_Missense_Mutation_p.V177D	NM_001144964.1	NP_001138436.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	177	C2.				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						TGGGAAGTTGTTGACTCAAAT	0.507000													67	146					0	0	0.003610	0	0
HMCN1	83872	broad.mit.edu	37	1	186089163	186089163	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:186089163C>T	ENST00000271588.4	+	80	12344	c.12115C>T	c.(12115-12117)Cct>Tct	p.P4039S	HMCN1_ENST00000367492.2_Missense_Mutation_p.P4039S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4039	Ig-like C2-type 39.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGCAGTTCTTCCTAGTGGCGG	0.453000													28	26					0	0	0.007291	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144865923	144865923	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:144865923G>A	ENST00000369359.4	-	38	6103	c.6065C>T	c.(6064-6066)aCt>aTt	p.T2022I	PDE4DIP_ENST00000369354.3_Missense_Mutation_p.T1886I|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.T1886I|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.T1780I|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.T1971I			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1886					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)		GAAGTTAGAAGTGGATCCTGT	0.463000			T	PDGFRB	MPD								85	342					0	0	0.003610	0	0
CYP3A43	64816	broad.mit.edu	37	7	99453257	99453257	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:99453257C>T	ENST00000354829.2	+	8	817	c.714C>T	c.(712-714)atC>atT	p.I238I	CYP3A43_ENST00000444905.1_Intron|CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000342499.4_Intron|CYP3A43_ENST00000417625.1_Silent_p.I128I|CYP3A43_ENST00000415413.1_Intron|CYP3A43_ENST00000222382.5_Silent_p.I238I|CYP3A43_ENST00000312017.5_Silent_p.I238I	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	238			Missing (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding	p.I238I(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	CCCTAAATATCGGTTTGTTTC	0.299000													9	30					0	0	0.001855	0	0
PCDHB2	56133	broad.mit.edu	37	5	140476750	140476750	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:140476750G>A	ENST00000194155.4	+	1	2524	c.2376G>A	c.(2374-2376)agG>agA	p.R792R		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		792					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCAGTTTCAGGAAGAGCTTTG	0.453000													39	69					0	0	0.003610	0	0
AKT2	208	broad.mit.edu	37	19	40762863	40762863	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:40762863G>A	ENST00000392038.2	-	3	443	c.145C>T	c.(145-147)Cta>Tta	p.L49L	AKT2_ENST00000311278.6_Silent_p.L49L|AKT2_ENST00000424901.1_Silent_p.L49L|AKT2_ENST00000579047.1_5'UTR	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	49	PH.				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			AAGGGGGGTAGAGTCTGATCA	0.562000			A		"""ovarian, pancreatic """								119	371					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179596678	179596678	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:179596678C>T	ENST00000589042.1	-	58	17148	c.16924G>A	c.(16924-16926)Gaa>Aaa	p.E5642K	TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E5325K|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E4398K|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5325	Ig-like 37.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCTTAAATTCCTTGGTAAAA	0.443000													31	64					0	0	0.008361	0	0
KCNIP4	80333	broad.mit.edu	37	4	21305468	21305468	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:21305468A>T	ENST00000382150.4	-	1	144	c.62T>A	c.(61-63)tTa>tAa	p.L21*	KCNIP4_ENST00000447367.2_Intron|KCNIP4_ENST00000382148.3_Intron|KCNIP4_ENST00000509207.1_Intron|KCNIP4_ENST00000382152.2_Intron	NM_147183.3	NP_671712.1	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	0	KIS (By similarity).					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				CTGTTCCAATAATTTAACAAA	0.408000													13	29					0	0	0.002450	0	0
ZFP36L2	678	broad.mit.edu	37	2	43451460	43451460	+	Nonstop_Mutation	SNP	A	A	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:43451460A>T	ENST00000282388.3	-	2	1776	c.1483T>A	c.(1483-1485)Tga>Aga	p.*495R	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	0					cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				CTCTTGCCTCAGTCGTCGGAG	0.682000													4	11					0	0	0.001984	0	0
CRISP1	167	broad.mit.edu	37	6	49808679	49808679	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:49808679G>A	ENST00000335847.4	-	6	566	c.465C>T	c.(463-465)ggC>ggT	p.G155G	CRISP1_ENST00000329411.5_Silent_p.G155G|CRISP1_ENST00000355791.2_Silent_p.G155G|CRISP1_ENST00000536021.1_Silent_p.G155G|CRISP1_ENST00000507853.1_Silent_p.G155G|CRISP1_ENST00000505118.1_Silent_p.G155G	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	155					fusion of sperm to egg plasma membrane	extracellular space				endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					CAATGGCACAGCCAATCAGGT	0.328000													9	23					0	0	0.008291	0	0
OR14A16	284532	broad.mit.edu	37	1	247978971	247978971	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:247978971T>C	ENST00000357627.1	-	1	60	c.61A>G	c.(61-63)Atg>Gtg	p.M21V		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						AAAATGCACATATTTTTATTG	0.383000													11	34					0	0	0.000978	0	0
RPH3A	22895	broad.mit.edu	37	12	113321148	113321148	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:113321148G>A	ENST00000389385.4	+	16	1874	c.1377G>A	c.(1375-1377)tgG>tgA	p.W459*	RPH3A_ENST00000447659.2_Nonsense_Mutation_p.W410*|RPH3A_ENST00000415485.3_Nonsense_Mutation_p.W459*|RPH3A_ENST00000551052.1_Nonsense_Mutation_p.W455*|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000548866.1_Nonsense_Mutation_p.W410*|RPH3A_ENST00000420983.2_Nonsense_Mutation_p.W459*|RPH3A_ENST00000543106.2_Nonsense_Mutation_p.W459*	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	459	C2 1.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		ACCCCATCTGGAATGAGACCC	0.567000													7	25					0	0	0.001984	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50461681	50461681	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:50461681C>T	ENST00000447370.2	-	8	1600	c.1510G>A	c.(1510-1512)Gag>Aag	p.E504K	SIGLEC11_ENST00000426971.2_Intron	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	504					cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		GGGGTGACCTCGAAGGAGCCC	0.692000													9	33					0	0	0.006214	0	0
PTPRD	5789	broad.mit.edu	37	9	8492925	8492925	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:8492925C>T	ENST00000381196.4	-	24	2947	c.2404G>A	c.(2404-2406)Gcc>Acc	p.A802T	PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000358503.5_Missense_Mutation_p.A780T|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.A802T|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.A789T|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000356435.5_Missense_Mutation_p.A802T	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	802	Fibronectin type-III 5.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GTTGTGTAGGCTGTGACGGTG	0.473000										TSP Lung(15;0.13)			26	42					0	0	0.008361	0	0
TCEB3C	162699	broad.mit.edu	37	18	44555292	44555292	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:44555292C>T	ENST00000330682.2	-	1	1157	c.922G>A	c.(922-924)Gaa>Aaa	p.E308K	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	308	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						AAAGCAGCTTCCTCCTGGAGC	0.637000													24	1313					0	0	0.006122	0	0
WFIKKN1	117166	broad.mit.edu	37	16	682864	682864	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:682864C>T	ENST00000319070.2	+	2	776	c.454C>T	c.(454-456)Ctc>Ttc	p.L152F		NM_053284.2	NP_444514.1	Q96NZ8	WFKN1_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1	152	Kazal-like.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|prostate(1)|upper_aerodigestive_tract(1)	4		Hepatocellular(780;0.00335)				GGGCCTGCACCTCCACATCGT	0.721000													10	32					0	0	0.001855	0	0
TMEM66	51669	broad.mit.edu	37	8	29923609	29923609	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:29923609G>A	ENST00000256255.6	-	5	1146	c.889C>T	c.(889-891)Ccc>Tcc	p.P297S	TMEM66_ENST00000545648.1_Missense_Mutation_p.P125S|TMEM66_ENST00000536273.1_Missense_Mutation_p.P125S	NM_016127.4	NP_057211.4	Q96BY9	TMM66_HUMAN	transmembrane protein 66	297						integral to membrane				endometrium(2)|large_intestine(1)|lung(11)	14				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)		GGGTAGGAGGGAGGATAGGAC	0.478000													18	59					0	0	0.006122	0	0
TRIM7	81786	broad.mit.edu	37	5	180622589	180622589	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:180622589C>T	ENST00000393315.1	-	7	1186	c.489G>A	c.(487-489)caG>caA	p.Q163Q	TRIM7_ENST00000393319.3_Silent_p.Q189Q|TRIM7_ENST00000422067.2_Silent_p.Q163Q|TRIM7_ENST00000504241.1_5'UTR|TRIM7_ENST00000361809.3_Silent_p.Q163Q|CTC-338M12.6_ENST00000512508.1_RNA|TRIM7_ENST00000274773.7_Silent_p.Q371Q	NM_203296.1	NP_976041.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7	371						cytoplasm|nucleus	zinc ion binding			NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		TGGGCAGGTCCTGGGCCCGCT	0.682000													19	72					0	0	0.010504	0	0
MYH9	4627	broad.mit.edu	37	22	36692960	36692960	+	Silent	SNP	G	G	A	rs144389749		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr22:36692960G>A	ENST00000216181.5	-	25	3431	c.3201C>T	c.(3199-3201)ctC>ctT	p.L1067L		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1067			Missing (in MHA and SBS).		actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TCTGGGCCTGGAGCTCGGCGA	0.682000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				19	32					0	0	0.010504	0	0
MYH3	4621	broad.mit.edu	37	17	10555849	10555849	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:10555849G>A	ENST00000583535.1	-	4	323	c.236C>T	c.(235-237)gCc>gTc	p.A79V	MYH3_ENST00000226209.7_Missense_Mutation_p.A79V	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	79	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GGGGTTCATGGCGTACACATC	0.473000													43	81					0	0	0.002852	0	0
EAF2	55840	broad.mit.edu	37	3	121591510	121591510	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:121591510C>T	ENST00000273668.2	+	5	682	c.611C>T	c.(610-612)tCc>tTc	p.S204F	EAF2_ENST00000451944.2_Missense_Mutation_p.S204F	NM_018456.4	NP_060926.2	Q96CJ1	EAF2_HUMAN	ELL associated factor 2	204	Necessary for transactivation activity.|Ser-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9				GBM - Glioblastoma multiforme(114;0.0972)		GATTGCAAATCCTCTACTTCT	0.398000													19	79					0	0	0.007413	0	0
SLC4A5	57835	broad.mit.edu	37	2	74462281	74462281	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:74462281C>T	ENST00000394019.2	-	22	2777	c.2380G>A	c.(2380-2382)Gat>Aat	p.D794N	SLC4A5_ENST00000377632.1_Missense_Mutation_p.D794N|SLC4A5_ENST00000357822.5_Missense_Mutation_p.D794N|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000346834.4_Missense_Mutation_p.D794N|SLC4A5_ENST00000358683.4_Intron|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377634.4_Missense_Mutation_p.D794N|SLC4A5_ENST00000423644.1_Missense_Mutation_p.D794N|SLC4A5_ENST00000359484.4_Intron	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	794						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AAACAGGCATCGATTCCACAG	0.522000													11	30					0	0	0.001368	0	0
DHX34	9704	broad.mit.edu	37	19	47870377	47870377	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:47870377C>T	ENST00000328771.4	+	7	2082	c.1733C>T	c.(1732-1734)tCc>tTc	p.S578F	DHX34_ENST00000471451.1_3'UTR	NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	578						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CCCATTGGGTCCCTGCTAGCC	0.647000													5	17					0	0	0.000602	0	0
DUSP9	1852	broad.mit.edu	37	X	152914786	152914786	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:152914786C>T	ENST00000342782.3	+	3	738	c.473C>T	c.(472-474)cCc>cTc	p.P158L	DUSP9_ENST00000370167.4_Missense_Mutation_p.P158L			Q99956	DUS9_HUMAN	dual specificity phosphatase 9	158					inactivation of MAPK activity|JNK cascade	cytosol|endoplasmic reticulum|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGTCCAGTGCCCGTGGTGGGG	0.677000													10	35					0	0	0.006214	0	0
HYDIN	54768	broad.mit.edu	37	16	70954575	70954575	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:70954575G>A	ENST00000393567.2	-	46	7854	c.7704C>T	c.(7702-7704)ttC>ttT	p.F2568F		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2568										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GGATGTCTAGGAAGGGTACGC	0.607000													7	14					0	0	0.001984	0	0
XIRP2	129446	broad.mit.edu	37	2	167760257	167760257	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:167760257G>A	ENST00000409195.1	+	2	354	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K	XIRP2_ENST00000409756.2_Missense_Mutation_p.E89K|XIRP2_ENST00000420519.1_Missense_Mutation_p.E89K|XIRP2_ENST00000409043.1_Missense_Mutation_p.E89K|XIRP2_ENST00000409728.1_Missense_Mutation_p.E89K|XIRP2_ENST00000295237.9_Missense_Mutation_p.E89K	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CAACACCAGGGAATATGGTCG	0.512000													21	41					0	0	0.010504	0	0
ELOVL3	83401	broad.mit.edu	37	10	103987394	103987394	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:103987394T>A	ENST00000370005.3	+	2	334	c.113T>A	c.(112-114)tTc>tAc	p.F38Y		NM_152310.1	NP_689523.1	Q9HB03	ELOV3_HUMAN	ELOVL fatty acid elongase 3	38					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16		Colorectal(252;0.207)		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)		GCAACCTCATTCCCCATAGCC	0.562000													35	101					0	0	0.003271	0	0
TBC1D9B	23061	broad.mit.edu	37	5	179302127	179302127	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:179302127G>A	ENST00000356834.3	-	12	1998	c.1961C>T	c.(1960-1962)tCg>tTg	p.S654L	TBC1D9B_ENST00000355235.3_Missense_Mutation_p.S654L	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	654	Rab-GAP TBC.					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CATCTTCTCCGAGAGCTGCGG	0.622000													21	52					0	0	0.002299	0	0
RGPD4	285190	broad.mit.edu	37	2	108488609	108488609	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:108488609G>A	ENST00000408999.3	+	20	4226	c.4149G>A	c.(4147-4149)aaG>aaA	p.K1383K	RGPD4_ENST00000354986.4_Silent_p.K1383K	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1383	RanBD1 2.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GTGATATAAAGATTTTACAGA	0.348000													54	162					0	0	0.003610	0	0
SLITRK3	22865	broad.mit.edu	37	3	164906576	164906576	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:164906576C>T	ENST00000475390.1	-	2	2486	c.2043G>A	c.(2041-2043)agG>agA	p.R681R	SLITRK3_ENST00000241274.3_Silent_p.R681R			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	681						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TCTTTCGACGCCTTCGGAGCA	0.542000										HNSCC(40;0.11)			33	32					0	0	0.003271	0	0
CAPN11	11131	broad.mit.edu	37	6	44141075	44141075	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:44141075C>T	ENST00000398776.1	+	7	821	c.783C>T	c.(781-783)ctC>ctT	p.L261L	CAPN11_ENST00000542245.1_Silent_p.L261L	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	261	Calpain catalytic.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TGCTCAGGCTCCTTAGGAAGG	0.592000													14	24					0	0	0.001855	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43777456	43777456	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:43777456C>T	ENST00000389420.3	-	31	4701	c.4702G>A	c.(4702-4704)Gaa>Aaa	p.E1568K		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1568	TSP type-1 13.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TAGACTATTTCATTCACTTGT	0.368000													17	28					0	0	0.004007	0	0
KIF22	3835	broad.mit.edu	37	16	29816160	29816160	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:29816160C>T	ENST00000561482.1	+	12	2136	c.1499C>T	c.(1498-1500)cCt>cTt	p.P500L	KIF22_ENST00000160827.4_Missense_Mutation_p.P568L|KIF22_ENST00000569382.2_Missense_Mutation_p.P514L|KIF22_ENST00000400751.5_Missense_Mutation_p.P500L	NM_001256270.1	NP_001243199.1	Q14807	KIF22_HUMAN	kinesin family member 22	568					blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						GCCCTAGAGCCTGAGGAGAAG	0.597000													6	12					0	0	0.001984	0	0
AVPR1B	553	broad.mit.edu	37	1	206230971	206230971	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:206230971C>T	ENST00000367126.4	+	2	1569	c.1104C>T	c.(1102-1104)tcC>tcT	p.S368S		NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	368					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	GGCGGCTCTCCGACGGCAGCC	0.697000													16	13					0	0	0.004990	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37478473	37478473	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:37478473G>A	ENST00000374660.1	+	31	2788	c.2689G>A	c.(2689-2691)Gga>Aga	p.G897R	ANKRD30A_ENST00000475522.1_3'UTR|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.G778R|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.G778R			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	953						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TAAAATAAATGGAAAATTAGA	0.308000													21	26					0	0	0.003330	0	0
TSEN2	80746	broad.mit.edu	37	3	12545207	12545207	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:12545207G>A	ENST00000444864.1	+	5	1142	c.755G>A	c.(754-756)gGg>gAg	p.G252E	TSEN2_ENST00000454502.2_Missense_Mutation_p.G193E|TSEN2_ENST00000415684.1_Missense_Mutation_p.G252E|TSEN2_ENST00000402228.3_Missense_Mutation_p.G252E|TSEN2_ENST00000383797.5_Missense_Mutation_p.G252E|TSEN2_ENST00000284995.6_Missense_Mutation_p.G252E|TSEN2_ENST00000314571.7_Missense_Mutation_p.G252E	NM_001145395.1	NP_001138867.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit	252					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity			central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						GGGGACAGAGGGCCTGACCAT	0.552000													100	292					0	0	0.003610	0	0
SDPR	8436	broad.mit.edu	37	2	192701153	192701153	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:192701153C>T	ENST00000304141.4	-	2	1103	c.774G>A	c.(772-774)ctG>ctA	p.L258L		NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	258						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	TCTTTGTCCCCAGCTTGTTCA	0.418000													46	182					0	0	0.003610	0	0
HYDIN	54768	broad.mit.edu	37	16	70908799	70908799	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:70908799C>T	ENST00000393567.2	-	63	10731	c.10581G>A	c.(10579-10581)gaG>gaA	p.E3527E		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3527										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGACTCCTAGCTCATCCTGCA	0.517000													8	14					0	0	0.000978	0	0
DMRTC2	63946	broad.mit.edu	37	19	42354496	42354496	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:42354496G>A	ENST00000596827.1	+	7	958	c.872G>A	c.(871-873)gGa>gAa	p.G291E	DMRTC2_ENST00000269945.3_Intron			Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	275	Pro-rich.				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						CCTGGGGAAGGAAAAAGCAGG	0.602000													32	65					0	0	0.008361	0	0
LAMA3	3909	broad.mit.edu	37	18	21330960	21330960	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:21330960G>A	ENST00000313654.9	+	5	1004	c.763G>A	c.(763-765)Gca>Aca	p.A255T	LAMA3_ENST00000399516.3_Missense_Mutation_p.A255T	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	255	Laminin N-terminal.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTTTACCAAGGCAACAAACAT	0.473000													32	54					0	0	0.002096	0	0
ALOX5AP	241	broad.mit.edu	37	13	31338126	31338126	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr13:31338126C>T	ENST00000380490.3	+	5	467	c.369C>T	c.(367-369)ttC>ttT	p.F123F		NM_001204406.1|NM_001629.3	NP_001191335.1|NP_001620.2	P20292	AL5AP_HUMAN	arachidonate 5-lipoxygenase-activating protein	123	Inhibitor binding.				cellular response to calcium ion|leukotriene biosynthetic process|leukotriene production involved in inflammatory response|protein homotrimerization	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	arachidonic acid binding|protein N-terminus binding			endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)	4		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0187)|Epithelial(112;0.0803)|OV - Ovarian serous cystadenocarcinoma(117;0.0864)		TCTTCCTGTTCCTCATGTCCG	0.433000													51	118					0	0	0.003610	0	0
CCNYL1	151195	broad.mit.edu	37	2	208611847	208611847	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:208611847C>T	ENST00000295414.3	+	8	927	c.716C>T	c.(715-717)gCc>gTc	p.A239V	CCNYL1_ENST00000392209.3_Missense_Mutation_p.A169V|CCNYL1_ENST00000339882.5_Missense_Mutation_p.A188V			Q8N7R7	CCYL1_HUMAN	cyclin Y-like 1	239	Cyclin N-terminal.				regulation of cyclin-dependent protein kinase activity		protein kinase binding			endometrium(1)|large_intestine(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0731)|Epithelial(149;0.139)|Lung(261;0.14)		GTTCTGGGAGCCATTCTTCTT	0.433000													20	40					0	0	0.002299	0	0
MUC16	94025	broad.mit.edu	37	19	9066121	9066121	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:9066121G>A	ENST00000397910.4	-	3	21528	c.21325C>T	c.(21325-21327)Cct>Tct	p.P7109S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7111	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						GAAATGGGAGGAGGTGAGGTT	0.522000													14	44					0	0	0.004990	0	0
HHLA2	11148	broad.mit.edu	37	3	108076945	108076945	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:108076945G>A	ENST00000357759.5	+	6	1354	c.940G>A	c.(940-942)Gaa>Aaa	p.E314K	HHLA2_ENST00000467562.1_Missense_Mutation_p.E250K|HHLA2_ENST00000489514.2_Missense_Mutation_p.E314K|HHLA2_ENST00000491820.1_Missense_Mutation_p.E314K|HHLA2_ENST00000467761.1_Missense_Mutation_p.E314K	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	314	Ig-like V-type 2.					integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						AGACAGTGGGGAATATTTATG	0.363000													12	111					0	0	0.000978	0	0
KIF1A	547	broad.mit.edu	37	2	241685220	241685220	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:241685220G>A	ENST00000498729.2	-	31	3555	c.3309C>T	c.(3307-3309)ttC>ttT	p.F1103F	KIF1A_ENST00000320389.7_Silent_p.F1002F	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	1002					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CTGTCACACGGAAGGTGAAGG	0.627000													5	15					0	0	0.001984	0	0
NEBL	10529	broad.mit.edu	37	10	21178808	21178808	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:21178808T>A	ENST00000377122.4	-	3	620	c.224A>T	c.(223-225)aAc>aTc	p.N75I	NEBL_ENST00000377119.1_Missense_Mutation_p.N75I|NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	75				N -> T (in Ref. 2; AAF24858).	regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TTTTACATGGTTTAGCATAGG	0.308000													13	34					0	0	0.002450	0	0
AOAH	313	broad.mit.edu	37	7	36633946	36633946	+	Splice_Site	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:36633946C>T	ENST00000431169.1	-	12	1237	c.938_splice	c.e12+1	p.G313_splice	AOAH_ENST00000535891.1_Splice_Site_p.G281_splice|AOAH_ENST00000538464.1_Splice_Site_p.G35_splice|AOAH_ENST00000258749.5_Splice_Site_p.G313_splice	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	313					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						GACACTTACCCAACAGTGGAG	0.443000													20	54					0	0	0.003330	0	0
KLHL13	90293	broad.mit.edu	37	X	117079528	117079528	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:117079528C>T	ENST00000262820.3	-	2	1018	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K	KLHL13_ENST00000469946.1_5'UTR|KLHL13_ENST00000540167.1_Missense_Mutation_p.E21K|KLHL13_ENST00000371878.1_5'UTR|KLHL13_ENST00000541812.1_Missense_Mutation_p.E21K|KLHL13_ENST00000371882.1_5'UTR|KLHL13_ENST00000539496.1_Missense_Mutation_p.E40K|KLHL13_ENST00000371876.1_5'UTR|KLHL13_ENST00000545703.1_5'UTR	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	37					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TCTTCCTCTTCCACGAGAGAT	0.388000													7	31					0	0	0.003080	0	0
HEPH	9843	broad.mit.edu	37	X	65486281	65486281	+	Splice_Site	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:65486281G>A	ENST00000519389.1	+	21	3585		c.e21-1		HEPH_ENST00000336279.5_Splice_Site|HEPH_ENST00000374727.3_Splice_Site|HEPH_ENST00000441993.2_Intron|HEPH_ENST00000343002.2_Splice_Site|HEPH_ENST00000419594.1_Splice_Site			Q9BQS7	HEPH_HUMAN	hephaestin						cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CTCCATTTCAGCAGTGCCCCC	0.433000													21	38					0	0	0.002299	0	0
GPR3	2827	broad.mit.edu	37	1	27720803	27720803	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:27720803G>A	ENST00000374024.3	+	2	600	c.501G>A	c.(499-501)ctG>ctA	p.L167L		NM_005281.2	NP_005272.1	P46089	GPR3_HUMAN	G protein-coupled receptor 3	167					activation of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane				endometrium(3)|lung(3)|ovary(1)|skin(1)	8		Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419)		CCCTGGGCCTGGGGCTGCTGC	0.562000													56	114					0	0	0.003610	0	0
MAGEC2	51438	broad.mit.edu	37	X	141291305	141291305	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:141291305C>T	ENST00000247452.3	-	3	816	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	157	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCTGCTTCGTATTTGAGG	0.478000										HNSCC(46;0.14)			60	151					0	0	0.003610	0	0
SLC17A8	246213	broad.mit.edu	37	12	100813679	100813679	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:100813679G>A	ENST00000323346.5	+	12	1825	c.1512G>A	c.(1510-1512)ggG>ggA	p.G504G	SLC17A8_ENST00000392989.3_Silent_p.G454G|SLC17A8_ENST00000552697.1_3'UTR	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	504					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TTGCTTCTGGGGAGAAACAGG	0.468000													22	53					0	0	0.003330	0	0
POM121L12	285877	broad.mit.edu	37	7	53103886	53103886	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:53103886C>T	ENST00000408890.4	+	1	538	c.522C>T	c.(520-522)acC>acT	p.T174T		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	174										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						ACCCCTGCACCCGGGAGACTC	0.716000													11	27					0	0	0.000978	0	0
TRBV4-2	28616	broad.mit.edu	37	7	142045754	142045754	+	RNA	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:142045754C>T	ENST00000390392.3	+	0	393																											CTCACTTATTCCTTCACCTAC	0.502000													61	182					0	0	0.003610	0	0
GC	2638	broad.mit.edu	37	4	72622450	72622450	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:72622450C>T	ENST00000273951.8	-	8	1356	c.1013G>A	c.(1012-1014)gGa>gAa	p.G338E	GC_ENST00000513476.1_Missense_Mutation_p.G338E|GC_ENST00000504199.1_Missense_Mutation_p.G357E|GC_ENST00000503472.1_5'UTR	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	338	Albumin 2.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	TTTGGTGTTTCCTGGATCACA	0.473000													5	23					0	0	0.001168	0	0
NAP1L2	4674	broad.mit.edu	37	X	72433613	72433613	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:72433613C>T	ENST00000373517.3	-	1	1071	c.716G>A	c.(715-717)gGa>gAa	p.G239E	NAP1L2_ENST00000536638.1_Missense_Mutation_p.G97E	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	239					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					ATCAGGAATTCCCTTAGGATC	0.398000													15	43					0	0	0.004990	0	0
C1QTNF1	114897	broad.mit.edu	37	17	77042653	77042653	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:77042653G>A	ENST00000339142.2	+	4	727	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K	C1QTNF1_ENST00000581774.1_Missense_Mutation_p.E58K|C1QTNF1_ENST00000580474.1_Missense_Mutation_p.E58K|C1QTNF1_ENST00000580454.1_Missense_Mutation_p.E58K|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.E68K|C1QTNF1_ENST00000578229.1_5'UTR|C1QTNF1_ENST00000311661.4_5'UTR|C1QTNF1_ENST00000583904.1_Missense_Mutation_p.E58K|C1QTNF1_ENST00000579760.1_Missense_Mutation_p.E58K|C1QTNF1_ENST00000392445.2_Missense_Mutation_p.E58K	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	58						collagen				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			AGAACAACATGAAAAATACAG	0.592000											OREG0024791	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	62					0	0	0.004656	0	0
BCAP31	10134	broad.mit.edu	37	X	152981133	152981133	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:152981133C>T	ENST00000458587.2	-	4	835	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K	BCAP31_ENST00000477175.1_5'UTR|BCAP31_ENST00000345046.6_Missense_Mutation_p.E69K|BCAP31_ENST00000441714.1_Missense_Mutation_p.E69K	NM_001139441.1|NM_001139457.2	NP_001132913.1|NP_001132929.1	P51572	BAP31_HUMAN	B-cell receptor-associated protein 31	69					cellular component disassembly involved in apoptosis|immune response|intracellular protein transport|vesicle-mediated transport	cytosol|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to plasma membrane	receptor binding			endometrium(2)|large_intestine(2)|lung(2)|prostate(1)	7	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTCCGAATTTCGCGCACGGCA	0.552000													62	132					0	0	0.003610	0	0
AGAP11	119385	broad.mit.edu	37	10	88769257	88769257	+	RNA	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:88769257G>A	ENST00000444431.1	+	0	3857				RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										AGGGGCAGACGAAACCCTCAA	0.527000													40	134					0	0	0.006999	0	0
OR1J4	26219	broad.mit.edu	37	9	125281862	125281862	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:125281862C>T	ENST00000340750.1	+	1	443	c.443C>T	c.(442-444)tCc>tTc	p.S148F		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						GTCACTGTGTCCTGGATCCTC	0.512000													29	74					0	0	0.009535	0	0
ITPR1	3708	broad.mit.edu	37	3	4716799	4716799	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:4716799C>T	ENST00000302640.8	+	22	2951	c.2601C>T	c.(2599-2601)ttC>ttT	p.F867F	ITPR1_ENST00000357086.4_Silent_p.F882F|ITPR1_ENST00000443694.2_Silent_p.F867F|ITPR1_ENST00000456211.2_Silent_p.F867F|ITPR1_ENST00000423119.2_Silent_p.F882F|ITPR1_ENST00000354582.6_Silent_p.F882F|ITPR1_ENST00000544951.1_Intron	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	882					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		TCTACAACTTCTCTGACCTTC	0.368000													7	35					0	0	0.003080	0	0
IGBP1	3476	broad.mit.edu	37	X	69354582	69354582	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:69354582C>T	ENST00000342206.6	+	2	897	c.398C>T	c.(397-399)tCt>tTt	p.S133F	IGBP1_ENST00000356413.4_Missense_Mutation_p.S133F			P78318	IGBP1_HUMAN	immunoglobulin (CD79A) binding protein 1	133					B cell activation|negative regulation of caspase activity|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|regulation of microtubule-based movement|response to interleukin-1|response to tumor necrosis factor|signal transduction	cytoplasm	protein phosphatase type 2A regulator activity			kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(2)	11						ATGAACAACTCTGCTGAAAAT	0.443000													28	51					0	0	0.005443	0	0
NPAP1	23742	broad.mit.edu	37	15	24923034	24923034	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:24923034C>T	ENST00000329468.2	+	1	2494	c.2020C>T	c.(2020-2022)Cct>Tct	p.P674S		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TCCCATCATTCCTCCTCCAGA	0.512000													62	118					0	0	0.003610	0	0
SH3D19	152503	broad.mit.edu	37	4	152069133	152069133	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:152069133G>A	ENST00000409598.4	-	11	2350	c.1183C>T	c.(1183-1185)Caa>Taa	p.Q395*	SH3D19_ENST00000409252.2_Nonsense_Mutation_p.Q395*|SH3D19_ENST00000427414.2_Nonsense_Mutation_p.Q359*|SH3D19_ENST00000424281.1_Nonsense_Mutation_p.Q359*|SH3D19_ENST00000514152.1_Nonsense_Mutation_p.Q395*|SH3D19_ENST00000304527.4_Nonsense_Mutation_p.Q395*|SH3D19_ENST00000455740.1_Nonsense_Mutation_p.Q395*			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	395					cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				ACCGGATCTTGATTTTTAAAA	0.403000													14	50					0	0	0.002450	0	0
NLRP5	126206	broad.mit.edu	37	19	56549405	56549405	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:56549405G>A	ENST00000390649.3	+	10	2630	c.2630G>A	c.(2629-2631)gGa>gAa	p.G877E		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	877						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GATTGCTGTGGATTGACCCAT	0.557000													14	37					0	0	0.002450	0	0
ANKIB1	54467	broad.mit.edu	37	7	91972374	91972374	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:91972374C>T	ENST00000265742.3	+	6	1200	c.824C>T	c.(823-825)tCc>tTc	p.S275F		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	275							protein binding|zinc ion binding			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GCTTGGATGTCCAACCCGGAG	0.433000													32	58					0	0	0.003755	0	0
MAP4K4	9448	broad.mit.edu	37	2	102486842	102486842	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:102486842A>G	ENST00000413150.2	+	20	2282	c.2227A>G	c.(2227-2229)Acc>Gcc	p.T743A	MAP4K4_ENST00000350198.4_Missense_Mutation_p.T747A|MAP4K4_ENST00000425019.1_Missense_Mutation_p.T797A|MAP4K4_ENST00000302217.5_Missense_Mutation_p.T631A|MAP4K4_ENST00000347699.4_Missense_Mutation_p.T828A|MAP4K4_ENST00000324219.4_Missense_Mutation_p.T909A|MAP4K4_ENST00000498066.1_3'UTR|MAP4K4_ENST00000350878.4_Missense_Mutation_p.T804A|MAP4K4_ENST00000456652.1_Missense_Mutation_p.T627A	NM_001242560.1|NM_004834.4	NP_001229489.1|NP_004825.3	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	828					intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GCCGGCCATGACCCCATCCAA	0.478000													5	14					0	0	0.001168	0	0
XIRP2	129446	broad.mit.edu	37	2	168106072	168106072	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:168106072G>A	ENST00000409195.1	+	9	8259	c.8170G>A	c.(8170-8172)Gaa>Aaa	p.E2724K	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E2502K|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E2724K|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2549					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TACATTAAATGAAACAGACCA	0.353000													15	57					0	0	0.003163	0	0
BRDT	676	broad.mit.edu	37	1	92445279	92445279	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:92445279G>A	ENST00000370389.2	+	8	1957	c.1033G>A	c.(1033-1035)Gag>Aag	p.E345K	BRDT_ENST00000402388.1_Missense_Mutation_p.E418K|BRDT_ENST00000362005.3_Missense_Mutation_p.E418K|BRDT_ENST00000394530.3_Missense_Mutation_p.E372K|BRDT_ENST00000399546.2_Missense_Mutation_p.E418K	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	418	Bromo 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		TTCTGAAGATGAGCGAGTTAA	0.378000													15	45					0	0	0.004007	0	0
C1R	715	broad.mit.edu	37	12	7187929	7187929	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:7187929G>A	ENST00000542285.1	-	11	2018	c.1869C>T	c.(1867-1869)tcC>tcT	p.S623S				P00736	C1R_HUMAN	complement component 1, r subcomponent	675	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CGATGCCCCAGGACACGATGC	0.587000													22	46					0	0	0.002780	0	0
VPS39	23339	broad.mit.edu	37	15	42470453	42470453	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:42470453A>G	ENST00000318006.5	-	10	1085	c.923T>C	c.(922-924)cTc>cCc	p.L308P	VPS39_ENST00000348544.4_Missense_Mutation_p.L319P	NM_015289.2	NP_056104.2	Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	319					protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		CTTGTCCTGGAGAAGTTGTTG	0.438000													21	26					0	0	0.002299	0	0
COL6A3	1293	broad.mit.edu	37	2	238243470	238243470	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:238243470C>T	ENST00000295550.4	-	41	9480	c.9028G>A	c.(9028-9030)Gag>Aag	p.E3010K	COL6A3_ENST00000472056.1_Missense_Mutation_p.E2403K|COL6A3_ENST00000353578.4_Missense_Mutation_p.E2804K|COL6A3_ENST00000409809.1_Missense_Mutation_p.E2804K|COL6A3_ENST00000347401.3_Missense_Mutation_p.E2809K|COL6A3_ENST00000346358.4_Missense_Mutation_p.E2810K	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	3010	Fibronectin type-III.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TCAGCCCTCTCCCAGTGGAGT	0.498000													26	51					0	0	0.003954	0	0
PHF21B	112885	broad.mit.edu	37	22	45279175	45279175	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr22:45279175C>T	ENST00000313237.5	-	13	1537	c.1387G>A	c.(1387-1389)Gag>Aag	p.E463K	PHF21B_ENST00000396103.3_Missense_Mutation_p.E421K|PHF21B_ENST00000404079.2_Missense_Mutation_p.E409K|PHF21B_ENST00000403565.1_Missense_Mutation_p.E259K	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	463							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		GTCTTCAACTCCAGGCATTTC	0.642000													14	51					0	0	0.002450	0	0
BRWD3	254065	broad.mit.edu	37	X	79943581	79943581	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:79943581G>A	ENST00000373275.4	-	34	4067	c.3851C>T	c.(3850-3852)tCa>tTa	p.S1284L	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1284										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TCTTCCAGATGAAGTACCAGG	0.368000													42	66					0	0	0.003610	0	0
CCR2	729230	broad.mit.edu	37	3	46399826	46399826	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:46399826G>A	ENST00000292301.4	+	2	1293	c.808G>A	c.(808-810)Gaa>Aaa	p.E270K	CCR2_ENST00000445132.2_Missense_Mutation_p.E270K|CCR2_ENST00000465202.1_3'UTR|CCR2_ENST00000400888.2_Missense_Mutation_p.E270K	NM_001123041.2	NP_001116513.2	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	270					astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		CACCTTCCAGGAATTCTTCGG	0.473000													52	124					0	0	0.003610	0	0
ENAM	10117	broad.mit.edu	37	4	71510227	71510227	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:71510227C>T	ENST00000396073.3	+	9	3365	c.3084C>T	c.(3082-3084)tcC>tcT	p.S1028S	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	1028					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			ATGAAGGCTCCAATCCAGAAG	0.428000													26	49					0	0	0.003330	0	0
NDN	4692	broad.mit.edu	37	15	23932279	23932279	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:23932279G>A	ENST00000331837.4	-	1	171	c.86C>T	c.(85-87)tCg>tTg	p.S29L		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	29					negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		AACCCCCTCCGAAACCCCAGG	0.687000									Prader-Willi syndrome				7	14					0	0	0.001984	0	0
LOC645752	645752	broad.mit.edu	37	15	78219146	78219146	+	RNA	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:78219146G>A	ENST00000567226.1	-	0	42																											GGGTCGGGAGGGAGGTAGGGT	0.537000													14	47					0	0	0.004007	0	0
ANKRD29	147463	broad.mit.edu	37	18	21218861	21218861	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:21218861G>A	ENST00000592179.1	-	4	436	c.282C>T	c.(280-282)gtC>gtT	p.V94V	ANKRD29_ENST00000322980.9_Silent_p.V94V|ANKRD29_ENST00000284207.7_Silent_p.V94V	NM_173505.2	NP_775776.2	Q8N6D5	ANR29_HUMAN	ankyrin repeat domain 29	94										breast(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)	13	all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GAAATCTCACGACATCATTAT	0.413000													21	45					0	0	0.002299	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814063	106814063	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:106814063C>T	ENST00000407775.2	+	8	2003	c.1753C>T	c.(1753-1755)Cct>Tct	p.P585S	ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.P453S|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.P453S|ZFPM2_ENST00000378472.4_Missense_Mutation_p.P316S|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	585					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	p.P585S(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CCCAGAGTTCCCTAGTGTGTC	0.443000													52	118					0	0	0.003610	0	0
HAVCR1	26762	broad.mit.edu	37	5	156479463	156479463	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:156479463C>T	ENST00000339252.3	-	3	1114	c.582G>A	c.(580-582)acG>acA	p.T194T	HAVCR1_ENST00000522693.1_Silent_p.T194T|HAVCR1_ENST00000425854.1_Silent_p.T194T|HAVCR1_ENST00000523175.1_Silent_p.T194T|HAVCR1_ENST00000544197.1_Silent_p.T194T	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	189	11 X 6 AA approximate tandem repeats of V-P-T-T-T-T].|Thr-rich.				interspecies interaction between organisms	integral to membrane	receptor activity	p.T194T(1)		endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTGGAATGCTCGTTGTCGTTG	0.463000													199	641					0	0	0.003610	0	0
TRAF3	7187	broad.mit.edu	37	14	103363719	103363719	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:103363719C>T	ENST00000560371.1	+	9	1158	c.941C>T	c.(940-942)tCc>tTc	p.S314F	TRAF3_ENST00000351691.5_Missense_Mutation_p.S289F|TRAF3_ENST00000539721.1_Missense_Mutation_p.S231F|TRAF3_ENST00000392745.2_Missense_Mutation_p.S314F|TRAF3_ENST00000347662.4_Missense_Mutation_p.S289F	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	314					apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		AATAATGAATCCAAAATCCTT	0.378000													8	21					0	0	0.004482	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123165272	123165272	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:123165272G>A	ENST00000349780.4	-	34	5298	c.5119C>T	c.(5119-5121)Ccg>Tcg	p.P1707S	CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.P1666S|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.P1675S|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.P1628S|CDK5RAP2_ENST00000480467.1_5'UTR	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1707					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	p.P1707S(1)		breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						GACACACACGGAGTGCTAGTT	0.567000													31	54					0	0	0.004289	0	0
TMEM132B	114795	broad.mit.edu	37	12	126128809	126128809	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:126128809C>A	ENST00000299308.3	+	6	1618	c.1610C>A	c.(1609-1611)cCg>cAg	p.P537Q	TMEM132B_ENST00000535886.1_Missense_Mutation_p.P49Q	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	537						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TGGAGGATCCCGGTTGCTGCC	0.572000													14	28					6.31663e-08	6.40593e-08	0.003163	1	0
STK31	56164	broad.mit.edu	37	7	23871875	23871875	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:23871875G>A	ENST00000354639.3	+	24	3345	c.2881G>A	c.(2881-2883)Gaa>Aaa	p.E961K	STK31_ENST00000355870.3_Missense_Mutation_p.E984K|STK31_ENST00000428484.1_Missense_Mutation_p.E961K|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.E961K	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	984	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TCCAAACCCAGAAAAAGATAC	0.358000													18	58					0	0	0.004990	0	0
DNAJB2	3300	broad.mit.edu	37	2	220146473	220146473	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:220146473G>T	ENST00000336576.5	+	4	497	c.209G>T	c.(208-210)cGg>cTg	p.R70L	DNAJB2_ENST00000392086.4_Missense_Mutation_p.R70L|DNAJB2_ENST00000463463.1_3'UTR	NM_006736.5	NP_006727.2	P25686	DNJB2_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 2	70	J.				ER-associated protein catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|negative regulation of protein deubiquitination|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding|response to unfolded protein	inclusion body	heat shock protein binding|Hsp70 protein binding|polyubiquitin binding|proteasome binding|protein binding|unfolded protein binding			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14		Renal(207;0.0474)		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGCTATGGCCGGGAAGGGCTG	0.602000													18	56					1.99824e-07	2.02363e-07	0.004990	1	0
KHDRBS1	10657	broad.mit.edu	37	1	32502640	32502640	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:32502640C>T	ENST00000327300.7	+	5	1068	c.901C>T	c.(901-903)Ccc>Tcc	p.P301S	KHDRBS1_ENST00000307714.8_3'UTR|KHDRBS1_ENST00000492989.1_Missense_Mutation_p.P262S	NM_006559.1	NP_006550.1	Q07666	KHDR1_HUMAN	KH domain containing, RNA binding, signal transduction associated 1	301	Pro-rich.				cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				ACCACCTGTTCCCAGGTAAAA	0.493000													29	49					0	0	0.002096	0	0
TTC1	7265	broad.mit.edu	37	5	159437713	159437713	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:159437713G>A	ENST00000231238.5	+	2	288	c.178G>A	c.(178-180)Gag>Aag	p.E60K	TTC1_ENST00000522793.1_Missense_Mutation_p.E60K	NM_003314.1	NP_003305.1	Q99614	TTC1_HUMAN	tetratricopeptide repeat domain 1	60					protein folding		unfolded protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|prostate(1)|skin(1)	12	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402)		CCAGGGAGAAGAGGAGTGTTT	0.507000													12	20					0	0	0.000978	0	0
INHBB	3625	broad.mit.edu	37	2	121107281	121107281	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:121107281C>T	ENST00000295228.3	+	2	1101	c.1055C>T	c.(1054-1056)aCg>aTg	p.T352M		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	352					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				TCCTTCCACACGGCTGTGGTG	0.622000													17	43					0	0	0.004990	0	0
ASB5	140458	broad.mit.edu	37	4	177142701	177142701	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:177142701G>A	ENST00000296525.3	-	4	548	c.435C>T	c.(433-435)tcC>tcT	p.S145S	ASB5_ENST00000512254.1_Silent_p.S92S|ASB5_ENST00000511879.1_5'UTR	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	145					intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		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;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		GACTGCCTTGGGAGCATGCGT	0.478000													16	43					0	0	0.003163	0	0
CAMK2B	816	broad.mit.edu	37	7	44283055	44283055	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:44283055G>A	ENST00000395749.2	-	7	562	c.486C>T	c.(484-486)atC>atT	p.I162I	CAMK2B_ENST00000347193.4_Silent_p.I162I|CAMK2B_ENST00000258682.6_Silent_p.I162I|CAMK2B_ENST00000440254.2_Silent_p.I162I|CAMK2B_ENST00000502837.2_Silent_p.I33I|CAMK2B_ENST00000395747.2_Silent_p.I162I|CAMK2B_ENST00000358707.3_Silent_p.I162I|CAMK2B_ENST00000353625.4_Silent_p.I162I|CAMK2B_ENST00000350811.3_Silent_p.I162I|CAMK2B_ENST00000457475.1_Silent_p.I162I|CAMK2B_ENST00000346990.4_Silent_p.I162I	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	162	Protein kinase.				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						CCTGCACCTCGATAGCTAGGC	0.637000													26	71					0	0	0.004656	0	0
TTN	7273	broad.mit.edu	37	2	179640850	179640850	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:179640850G>A	ENST00000589042.1	-	28	5965	c.5741C>T	c.(5740-5742)gCg>gTg	p.A1914V	TTN_ENST00000342175.6_Missense_Mutation_p.A1868V|TTN_ENST00000591111.1_Missense_Mutation_p.A1914V|TTN_ENST00000359218.5_Missense_Mutation_p.A1868V|TTN_ENST00000460472.2_Missense_Mutation_p.A1868V|TTN_ENST00000360870.5_Missense_Mutation_p.A1914V|TTN_ENST00000342992.6_Missense_Mutation_p.A1914V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1632	Ig-like 9.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.A1868V(4)|p.A1914V(4)		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)			AGGATTTTCCGCGGTGACCTT	0.458000													75	116					0	0	0.003610	0	0
FAM65C	140876	broad.mit.edu	37	20	49204371	49204371	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:49204371C>T	ENST00000327979.2	-	21	3119	c.2708G>A	c.(2707-2709)cGg>cAg	p.R903Q	FAM65C_ENST00000535356.1_Missense_Mutation_p.R907Q|FAM65C_ENST00000045083.2_Missense_Mutation_p.R903Q|FAM65C_ENST00000462842.1_5'UTR			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	903										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGCTGCCGCCCGCACGGCCTC	0.597000											OREG0026030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	37					0	0	0.004990	0	0
FGFR4	2264	broad.mit.edu	37	5	176524653	176524653	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:176524653C>T	ENST00000292408.4	+	18	2630	c.2385C>T	c.(2383-2385)ccC>ccT	p.P795P	FGFR4_ENST00000292410.3_Silent_p.P755P|FGFR4_ENST00000393637.1_Silent_p.P755P|FGFR4_ENST00000502906.1_Silent_p.P795P|FGFR4_ENST00000393648.2_Silent_p.P727P	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	795					insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	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)		Palifermin(DB00039)	GCTCCTTCCCCTTCGGGTCTG	0.637000										TSP Lung(9;0.080)			50	39					0	0	0.003610	0	0
EGFL6	25975	broad.mit.edu	37	X	13621442	13621442	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:13621442G>A	ENST00000361306.1	+	5	664	c.407G>A	c.(406-408)aGg>aAg	p.R136K	EGFL6_ENST00000380602.3_Missense_Mutation_p.R136K	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	136					cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						TCAGACTCTAGGACATGTGCC	0.448000													30	97					0	0	0.009535	0	0
TUSC5	286753	broad.mit.edu	37	17	1198819	1198819	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:1198819G>A	ENST00000333813.3	+	2	761	c.422G>A	c.(421-423)gGc>gAc	p.G141D		NM_172367.2	NP_758955.2	Q8IXB3	TUSC5_HUMAN	tumor suppressor candidate 5	141					response to biotic stimulus	integral to membrane				endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AACGTGGACGGCGCCCGGAGG	0.622000													65	112					0	0	0.003610	0	0
ZSWIM8	23053	broad.mit.edu	37	10	75552441	75552441	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:75552441C>T	ENST00000604729.1	+	10	2441	c.2144C>T	c.(2143-2145)aCc>aTc	p.T715I	ZSWIM8_ENST00000605216.1_Missense_Mutation_p.T715I|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.T715I|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.T682I|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.T715I|ZSWIM8_ENST00000431225.1_3'UTR					zinc finger, SWIM-type containing 8																		CTTCCCAAAACCAAAGAGGCA	0.602000													14	27					0	0	0.002450	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110471946	110471946	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:110471946G>A	ENST00000378402.5	+	47	7231	c.7127G>A	c.(7126-7128)gGa>gAa	p.G2376E		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2376					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)			CTCCCTGATGGAACTCTGTTT	0.363000										HNSCC(38;0.096)			13	22					0	0	0.002450	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993458	140993458	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:140993458G>A	ENST00000285879.4	+	4	554	c.268G>A	c.(268-270)Gac>Aac	p.D90N	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	90							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTGAGGGCGACGACACCCA	0.582000										HNSCC(15;0.026)			45	121					0	0	0.003214	0	0
LRP1B	53353	broad.mit.edu	37	2	141819748	141819748	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:141819748C>T	ENST00000389484.3	-	8	2079	c.1108G>A	c.(1108-1110)Gag>Aag	p.E370K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	370					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCTGGCTGCTCTGTCTTTGAA	0.428000										TSP Lung(27;0.18)			24	62					0	0	0.002780	0	0
SCN9A	6335	broad.mit.edu	37	2	167056272	167056272	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:167056272C>T	ENST00000303354.6	-	27	5220	c.4880G>A	c.(4879-4881)gGa>gAa	p.G1627E	SCN9A_ENST00000375387.4_Missense_Mutation_p.G1627E|SCN9A_ENST00000409672.1_Missense_Mutation_p.G1615E|SCN9A_ENST00000409435.1_Missense_Mutation_p.G1626E|AC010127.3_ENST00000447809.2_RNA			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1626						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CCCCTTTGCTCCTTTGACTAG	0.498000													45	101					0	0	0.002852	0	0
DRD3	1814	broad.mit.edu	37	3	113858383	113858383	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:113858383A>C	ENST00000383673.2	-	5	1117	c.687T>G	c.(685-687)agT>agG	p.S229R	DRD3_ENST00000460779.1_Missense_Mutation_p.S229R|DRD3_ENST00000467632.1_Missense_Mutation_p.S229R|DRD3_ENST00000295881.7_Missense_Mutation_p.S229R	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN	dopamine receptor D3	229					activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	TGTTGCACTGACTGTTCTGTC	0.532000													45	144					0	0	0.003610	0	0
A1CF	29974	broad.mit.edu	37	10	52603817	52603817	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:52603817G>A	ENST00000395489.2	-	6	540	c.144C>T	c.(142-144)ggC>ggT	p.G48G	A1CF_ENST00000374001.1_Silent_p.G55G|A1CF_ENST00000373993.1_Silent_p.G55G|A1CF_ENST00000282641.2_Silent_p.G55G|A1CF_ENST00000395495.1_Silent_p.G55G|A1CF_ENST00000373997.3_Silent_p.G55G|A1CF_ENST00000373995.3_Silent_p.G63G	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	55					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						AAATTTCACAGCCCCTTTCAG	0.423000													29	64					0	0	0.006320	0	0
TENM2	57451	broad.mit.edu	37	5	167589726	167589726	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:167589726G>A	ENST00000519204.1	+	12	2288	c.2170G>A	c.(2170-2172)Gaa>Aaa	p.E724K	CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000403607.2_Missense_Mutation_p.E669K|TENM2_ENST00000520394.1_Missense_Mutation_p.E613K|TENM2_ENST00000518659.1_Missense_Mutation_p.E845K|TENM2_ENST00000545108.1_Missense_Mutation_p.E845K					teneurin transmembrane protein 2																		CGTTGCCATGGAAACTTCCTG	0.542000													21	48					0	0	0.002780	0	0
GTF2H4	2968	broad.mit.edu	37	6	30879243	30879243	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:30879243C>T	ENST00000259895.4	+	8	931	c.708C>T	c.(706-708)ttC>ttT	p.F236F	GTF2H4_ENST00000376316.2_Silent_p.F236F|GTF2H4_ENST00000539324.1_Silent_p.F180F	NM_001517.4	NP_001508.1	Q92759	TF2H4_HUMAN	general transcription factor IIH, polypeptide 4, 52kDa	236					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						TTCTCTCCTTCCTCTTCCAGC	0.542000								Nucleotide excision repair (NER)					28	70					0	0	0.006320	0	0
OR2T10	127069	broad.mit.edu	37	1	248756757	248756757	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:248756757G>A	ENST00000330500.2	-	1	343	c.313C>T	c.(313-315)Ctg>Ttg	p.L105L		NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	105					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)			CCCAACTGCAGGTAGAAGTAC	0.537000													14	11					0	0	0.001855	0	0
TM9SF2	9375	broad.mit.edu	37	13	100190108	100190108	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr13:100190108A>G	ENST00000376387.4	+	6	897	c.707A>G	c.(706-708)gAa>gGa	p.E236G	TM9SF2_ENST00000463709.1_3'UTR	NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	236					transport	endosome membrane|integral to plasma membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					GCTAAACTTGAACCGAAAAGG	0.318000													5	18					0	0	0.003080	0	0
CCHCR1	54535	broad.mit.edu	37	6	31122394	31122394	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:31122394G>A	ENST00000396268.3	-	4	868	c.680C>T	c.(679-681)gCc>gTc	p.A227V	CCHCR1_ENST00000376266.5_Missense_Mutation_p.A138V|CCHCR1_ENST00000480060.1_Intron|CCHCR1_ENST00000396263.2_Missense_Mutation_p.A138V|CCHCR1_ENST00000451521.2_Missense_Mutation_p.A191V	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	138					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						AGCTCGGCCGGCCTTCTCCGC	0.662000													75	194					0	0	0.003610	0	0
ACSM4	341392	broad.mit.edu	37	12	7469819	7469819	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:7469819C>T	ENST00000399422.4	+	4	755	c.707C>T	c.(706-708)cCt>cTt	p.P236L		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	236					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						ACAGGCTTTCCTAAAATGGCC	0.483000													7	9					0	0	0.001984	0	0
OR4C3	256144	broad.mit.edu	37	11	48346903	48346903	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:48346903C>T	ENST00000319856.4	+	1	432	c.411C>T	c.(409-411)atC>atT	p.I137I		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	110					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						GTGTTGAGATCATTCTGCTCA	0.478000													36	127					0	0	0.005524	0	0
LAMA1	284217	broad.mit.edu	37	18	7023254	7023254	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:7023254G>A	ENST00000389658.3	-	19	2703	c.2610C>T	c.(2608-2610)tgC>tgT	p.C870C		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	870	Laminin EGF-like 8.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGCACTTCAGGCACTCCCCGG	0.612000													13	27					0	0	0.001855	0	0
KCNB2	9312	broad.mit.edu	37	8	73848342	73848342	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:73848342G>A	ENST00000523207.1	+	3	1340	c.752G>A	c.(751-753)cGa>cAa	p.R251Q		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	251					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.R251L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TACCTTTTGCGATTCTTATCC	0.448000													16	62					0	0	0.003163	0	0
COL28A1	340267	broad.mit.edu	37	7	7571467	7571467	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:7571467C>T	ENST00000399429.3	-	3	333	c.193G>A	c.(193-195)Gat>Aat	p.D65N		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	65	VWFA 1.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TTCTGTTTATCAAAGAGGGCA	0.388000													15	40					0	0	0.004007	0	0
CPEB3	22849	broad.mit.edu	37	10	93940758	93940758	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:93940758A>G	ENST00000412050.4	-	4	1203	c.1115T>C	c.(1114-1116)tTc>tCc	p.F372S	CPEB3_ENST00000265997.4_Missense_Mutation_p.F395S	NM_001178137.1	NP_001171608.1	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	395							nucleotide binding|RNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				TGGATGATGGAAATTTATCCC	0.264000													9	32					0	0	0.006214	0	0
FBN2	2201	broad.mit.edu	37	5	127645087	127645087	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:127645087C>T	ENST00000508053.1	-	47	6179	c.5205G>A	c.(5203-5205)atG>atA	p.M1735I	FBN2_ENST00000262464.4_Missense_Mutation_p.M1735I			P35556	FBN2_HUMAN	fibrillin 2	1735					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)		AGCTTTTTCTCATGTCTATAT	0.383000													11	30					0	0	0.008291	0	0
RETNLB	84666	broad.mit.edu	37	3	108475996	108475996	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:108475996G>A	ENST00000295755.6	-	1	235	c.37C>T	c.(37-39)Ccc>Tcc	p.P13S		NM_032579.2	NP_115968.1	Q9BQ08	RETNB_HUMAN	resistin like beta	13					cell proliferation	extracellular region	hormone activity			endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						TGGAGAAGGGGGATTAGGATG	0.502000													25	23					0	0	0.005443	0	0
LRTM2	654429	broad.mit.edu	37	12	1940547	1940547	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:1940547C>T	ENST00000543818.1	+	4	1356	c.514C>T	c.(514-516)Cgc>Tgc	p.R172C	CACNA2D4_ENST00000586184.1_Intron|LRTM2_ENST00000299194.1_Missense_Mutation_p.R172C|CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000585708.1_Intron|LRTM2_ENST00000543730.1_Intron|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000588077.1_Intron|LRTM2_ENST00000535041.1_Missense_Mutation_p.R172C	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	172						integral to membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			CCTCTCGCTTCGCTCCAACCG	0.627000													19	50					0	0	0.007413	0	0
RIMS2	9699	broad.mit.edu	37	8	104924356	104924356	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:104924356G>A	ENST00000507740.1	+	4	1428	c.1192G>A	c.(1192-1194)Gat>Aat	p.D398N	RIMS2_ENST00000406091.3_Missense_Mutation_p.D590N|RIMS2_ENST00000436393.2_Missense_Mutation_p.D368N|RIMS2_ENST00000262231.10_Missense_Mutation_p.D445N	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	668					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GCGTCTAAAAGATGGAAGTGT	0.368000										HNSCC(12;0.0054)			6	38					0	0	0.003080	0	0
ZNF208	7757	broad.mit.edu	37	19	22156775	22156775	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:22156775G>A	ENST00000397126.4	-	4	1209	c.1061C>T	c.(1060-1062)tCa>tTa	p.S354L	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208									p.S354F(3)|p.S354L(3)		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)				AGTAAGGATTGAGAACTTACT	0.403000													16	50					0	0	0.004990	0	0
ZBTB22	9278	broad.mit.edu	37	6	33283840	33283840	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:33283840G>A	ENST00000431845.2	-	2	1005	c.854C>T	c.(853-855)aCc>aTc	p.T285I	ZBTB22_ENST00000418724.1_Missense_Mutation_p.T285I	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						GGGTGTGTAGGTGGGTCTCCG	0.607000													52	20					0	0	0.003610	0	0
FAT4	79633	broad.mit.edu	37	4	126411760	126411760	+	Missense_Mutation	SNP	G	G	A	rs148534921		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:126411760G>A	ENST00000394329.3	+	17	13796	c.13783G>A	c.(13783-13785)Gaa>Aaa	p.E4595K	FAT4_ENST00000335110.5_Missense_Mutation_p.E2836K	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4595					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TATCTATGATGAAACTGATAT	0.483000													23	48					0	0	0.002780	0	0
RNF217-AS1	7955	broad.mit.edu	37	6	125232330	125232330	+	RNA	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:125232330C>T	ENST00000439075.1	-	0	2415					NR_026876.1																						ATATGAATATCAATAAAACCC	0.423000													4	3					0	0	0.009096	0	0
VSTM2A	222008	broad.mit.edu	37	7	54612452	54612452	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:54612452G>A	ENST00000302287.3	+	2	623	c.217G>A	c.(217-219)Gat>Aat	p.D73N	VSTM2A_ENST00000402613.3_Missense_Mutation_p.D73N|VSTM2A_ENST00000404951.1_Missense_Mutation_p.D73N|VSTM2A_ENST00000407838.3_Missense_Mutation_p.D73N|VSTM2A_ENST00000402026.2_Missense_Mutation_p.D72N			Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	73	Ig-like V-type.					extracellular region				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			GGAGGACCTGGATCCCGGGGC	0.731000													7	19					0	0	0.001984	0	0
TRPC4	7223	broad.mit.edu	37	13	38320349	38320349	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr13:38320349G>A	ENST00000379705.3	-	3	1479	c.622C>T	c.(622-624)Ctc>Ttc	p.L208F	TRPC4_ENST00000355779.2_Missense_Mutation_p.L208F|TRPC4_ENST00000358477.2_Missense_Mutation_p.L208F|TRPC4_ENST00000379673.2_Missense_Mutation_p.L208F|TRPC4_ENST00000426868.2_Missense_Mutation_p.L208F|TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000379681.3_Missense_Mutation_p.L208F|TRPC4_ENST00000447043.1_Missense_Mutation_p.L208F			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	208					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		AGTGCAATGAGAGAGGGACTG	0.498000													12	51					0	0	0.000978	0	0
MMP9	4318	broad.mit.edu	37	20	44639169	44639169	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:44639169C>T	ENST00000372330.3	+	3	438	c.419C>T	c.(418-420)gCc>gTc	p.A140V		NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	140					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	ATTGACGACGCCTTTGCCCGC	0.617000													17	44					0	0	0.004990	0	0
TTC7B	145567	broad.mit.edu	37	14	91161911	91161911	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:91161911C>T	ENST00000357056.2	-	6	831	c.710G>A	c.(709-711)aGa>aAa	p.R237K	TTC7B_ENST00000328459.6_Missense_Mutation_p.R237K			Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	237							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)				TCCGACTCCTCTTGTCAAGTT	0.398000													10	22					0	0	0.008291	0	0
MYH7	4625	broad.mit.edu	37	14	23886452	23886452	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:23886452G>A	ENST00000355349.3	-	32	4591	c.4429C>T	c.(4429-4431)Ctc>Ttc	p.L1477F		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1477					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCTGTGCTGAGGGAGCGAGCC	0.577000													45	90					0	0	0.002852	0	0
RNASEL	6041	broad.mit.edu	37	1	182555227	182555227	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:182555227C>G	ENST00000367559.3	-	2	968	c.715G>C	c.(715-717)Ggg>Cgg	p.G239R	RNASEL_ENST00000539397.1_Missense_Mutation_p.G239R|RNASEL_ENST00000444138.1_Missense_Mutation_p.G239R	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	239	2-5A binding (P-loop) 1.				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						GGAGTCTTCCCTCTTTCTCCC	0.517000													24	42					0	0	0.002299	0	0
THBS2	7058	broad.mit.edu	37	6	169648878	169648878	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:169648878C>T	ENST00000366787.3	-	4	492	c.243G>A	c.(241-243)aaG>aaA	p.K81K		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	81	Heparin-binding (Potential).|TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		AGAAGCCCTCCTTCTGCCGCA	0.632000													21	28					0	0	0.010504	0	0
ABLIM2	84448	broad.mit.edu	37	4	8009875	8009875	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:8009875G>A	ENST00000318888.4	-	15	1503	c.632C>T	c.(631-633)tCt>tTt	p.S211F	ABLIM2_ENST00000447017.2_Missense_Mutation_p.S510F|ABLIM2_ENST00000341937.5_Missense_Mutation_p.S476F|ABLIM2_ENST00000546334.1_Missense_Mutation_p.S435F|ABLIM2_ENST00000407564.3_Missense_Mutation_p.S425F|ABLIM2_ENST00000361737.5_Missense_Mutation_p.S435F|ABLIM2_ENST00000296372.8_Missense_Mutation_p.S477F|ABLIM2_ENST00000545242.1_Missense_Mutation_p.S476F|ABLIM2_ENST00000428004.2_Missense_Mutation_p.S436F|ABLIM2_ENST00000514025.1_Missense_Mutation_p.S211F|ABLIM2_ENST00000361581.5_Missense_Mutation_p.S476F|ABLIM2_ENST00000505872.1_Missense_Mutation_p.S424F			Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	476	LIM zinc-binding 4.				axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						CAGGTCTGGAGAATTGGTCCT	0.532000													33	62					0	0	0.002096	0	0
ELF4	2000	broad.mit.edu	37	X	129203628	129203628	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:129203628C>T	ENST00000308167.5	-	8	1213	c.834G>A	c.(832-834)ctG>ctA	p.L278L	ELF4_ENST00000335997.7_Silent_p.L278L	NM_001421.3	NP_001412.1	Q99607	ELF4_HUMAN	E74-like factor 4 (ets domain transcription factor)	278					natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CCACTTTGGCCAGTATGCCTC	0.557000			T	ERG	AML								28	101					0	0	0.008361	0	0
PTPRK	5796	broad.mit.edu	37	6	128304414	128304414	+	Silent	SNP	A	A	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:128304414A>T	ENST00000368227.3	-	24	3777	c.3411T>A	c.(3409-3411)tcT>tcA	p.S1137S	PTPRK_ENST00000368226.4_Silent_p.S1120S|PTPRK_ENST00000368207.3_Silent_p.S1152S|PTPRK_ENST00000368213.5_Silent_p.S1126S|PTPRK_ENST00000368210.3_Silent_p.S1138S|PTPRK_ENST00000368215.3_Silent_p.S1119S|PTPRK_ENST00000532331.1_Silent_p.S1142S			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1119	Tyrosine-protein phosphatase 1.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TAATACGCCGAGATCTTAAGG	0.373000													5	5					0	0	0.000602	0	0
TMEM255A	55026	broad.mit.edu	37	X	119419545	119419545	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:119419545T>C	ENST00000309720.5	-	6	553	c.430A>G	c.(430-432)Agt>Ggt	p.S144G	TMEM255A_ENST00000371369.4_Intron|TMEM255A_ENST00000440464.1_Intron|TMEM255A_ENST00000371352.1_Intron	NM_017938.3	NP_060408.3			transmembrane protein 255A																		GTTGAGGAACTTATGACCTTA	0.433000													25	49					0	0	0.004656	0	0
ACKR3	57007	broad.mit.edu	37	2	237489138	237489138	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:237489138G>A	ENST00000272928.3	+	2	340	c.30G>A	c.(28-30)gaG>gaA	p.E10E		NM_020311.2	NP_064707.1			atypical chemokine receptor 3																		ACTACTCAGAGCCAGGGAACT	0.507000													17	44					0	0	0.010504	0	0
MYO15A	51168	broad.mit.edu	37	17	18045494	18045494	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:18045494C>T	ENST00000205890.5	+	24	6089	c.5751C>T	c.(5749-5751)ttC>ttT	p.F1917F		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1917	IQ 1.|Neck or regulatory domain.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GTGGCTTCTTCATTAAGCGGC	0.572000													23	37					0	0	0.001882	0	0
SEL1L2	80343	broad.mit.edu	37	20	13830908	13830908	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:13830908G>A	ENST00000284951.5	-	19	1950	c.1876C>T	c.(1876-1878)Cac>Tac	p.H626Y	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Missense_Mutation_p.H513Y			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	626						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						ACAGGTATGTGGGCATCTGGA	0.463000													20	45					0	0	0.001882	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90503550	90503550	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:90503550C>T	ENST00000325643.5	+	4	4214	c.4148C>T	c.(4147-4149)cCc>cTc	p.P1383L		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		AAAGCCACCCCCAAGGGCCAC	0.627000													20	37					0	0	0.008871	0	0
SNHG14	104472715	broad.mit.edu	37	15	25438495	25438495	+	RNA	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:25438495C>T	ENST00000424208.1	+	0	1354				SNHG14_ENST00000363358.1_RNA|SNHG14_ENST00000456576.1_RNA|SNHG14_ENST00000414175.1_RNA	NR_003305.1																						CTTATATTATCCTGAAGAGAG	0.522000													93	249					0	0	0.003610	0	0
ZNF519	162655	broad.mit.edu	37	18	14106164	14106164	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:14106164C>T	ENST00000590202.1	-	3	527	c.375G>A	c.(373-375)caG>caA	p.Q125Q	ZNF519_ENST00000589203.1_Intron|ZNF519_ENST00000589498.1_Intron	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	125					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						GAGGCTTCTTCTGAAATATTC	0.299000													13	34					0	0	0.001855	0	0
RHBDL1	9028	broad.mit.edu	37	16	727795	727795	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:727795G>A	ENST00000219551.2	+	7	1087	c.1060G>A	c.(1060-1062)Ggc>Agc	p.G354S	RHBDL1_ENST00000352681.3_Missense_Mutation_p.G289S			O75783	RHBL1_HUMAN	rhomboid, veinlet-like 1 (Drosophila)	354					proteolysis|signal transduction	integral to plasma membrane|membrane fraction	calcium ion binding|serine-type endopeptidase activity	p.G354C(1)		endometrium(1)|kidney(1)|lung(4)|urinary_tract(3)	9		Hepatocellular(780;0.0218)				CTCCGAGGTGGGCCGGGCCGT	0.751000													3	8					0	0	0.004672	0	0
COL15A1	1306	broad.mit.edu	37	9	101798462	101798462	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:101798462G>A	ENST00000375001.3	+	20	2723	c.2300G>A	c.(2299-2301)gGa>gAa	p.G767E		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	767	Triple-helical region 3 (COL3).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GGTCTCAAAGGAGAGAAAGGA	0.493000													17	54					0	0	0.004007	0	0
FRMPD2	143162	broad.mit.edu	37	10	49395325	49395325	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:49395325C>A	ENST00000374201.3	-	17	2478	c.2176G>T	c.(2176-2178)Ggc>Tgc	p.G726C	FRMPD2_ENST00000305531.3_Missense_Mutation_p.G701C|FRMPD2_ENST00000407470.4_Missense_Mutation_p.G694C	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	726					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		TGCTCCCGGCCAGTGCAGGGG	0.562000													7	20					0.000442599	0.000446961	0.006214	1	0
PCDHA3	56145	broad.mit.edu	37	5	140182681	140182681	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:140182681G>A	ENST00000522353.2	+	1	1899	c.1899G>A	c.(1897-1899)acG>acA	p.T633T	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Silent_p.T633T	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGATCAGCACGACCCGTGCCC	0.662000													24	43					0	0	0.005443	0	0
NPFFR2	10886	broad.mit.edu	37	4	73003829	73003829	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:73003829T>A	ENST00000308744.6	+	3	805	c.707T>A	c.(706-708)tTt>tAt	p.F236Y	NPFFR2_ENST00000358749.3_Missense_Mutation_p.F134Y|NPFFR2_ENST00000344413.5_Silent_p.L124L|NPFFR2_ENST00000395999.1_Missense_Mutation_p.F137Y	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	236					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			GCTTCAGTCTTTACGTTAGTT	0.398000													13	31					0	0	0.002450	0	0
TACR2	6865	broad.mit.edu	37	10	71175909	71175909	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:71175909G>A	ENST00000373306.4	-	1	714	c.171C>T	c.(169-171)atC>atT	p.I57I		NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN	tachykinin receptor 2	57					excretion|muscle contraction	integral to plasma membrane	tachykinin receptor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11					Clonidine(DB00575)|Octreotide(DB00104)	GGGCCAGGATGATCCAGATGA	0.602000													18	40					0	0	0.006122	0	0
ABCB5	340273	broad.mit.edu	37	7	20785030	20785030	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:20785030A>T	ENST00000404938.2	+	26	4050	c.3398A>T	c.(3397-3399)aAt>aTt	p.N1133I	ABCB5_ENST00000258738.6_Missense_Mutation_p.N688I	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	688					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						AATGCAGCAAATATCCATTCT	0.438000													14	26					0	0	0.003163	0	0
ELOVL3	83401	broad.mit.edu	37	10	103987395	103987395	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:103987395C>T	ENST00000370005.3	+	2	335	c.114C>T	c.(112-114)ttC>ttT	p.F38F		NM_152310.1	NP_689523.1	Q9HB03	ELOV3_HUMAN	ELOVL fatty acid elongase 3	38					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16		Colorectal(252;0.207)		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)		CAACCTCATTCCCCATAGCCC	0.562000													34	102					0	0	0.002836	0	0
UGT1A1	54658	broad.mit.edu	37	2	234669540	234669540	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:234669540C>T	ENST00000360418.3	+	1	607	c.607C>T	c.(607-609)Cac>Tac	p.H203Y	UGT1A1_ENST00000305208.5_Missense_Mutation_p.H203Y|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A5_ENST00000373414.3_Intron			P22309	UD11_HUMAN		203					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TCATTCAGATCACATGACCTT	0.522000													38	146					0	0	0.007835	0	0
MAP4K1	11184	broad.mit.edu	37	19	39108532	39108532	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:39108532C>T	ENST00000591517.1	-	1	32	c.4G>A	c.(4-6)Gac>Aac	p.D2N	MAP4K1_ENST00000589130.1_Intron|MAP4K1_ENST00000586296.1_Missense_Mutation_p.D2N|MAP4K1_ENST00000396857.2_Missense_Mutation_p.D2N	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	2					activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCCACGACGTCCATCCCTGGG	0.652000													27	47					0	0	0.003954	0	0
CLGN	1047	broad.mit.edu	37	4	141313412	141313412	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:141313412C>T	ENST00000325617.5	-	13	2052	c.1612G>A	c.(1612-1614)Gag>Aag	p.E538K	CLGN_ENST00000414773.1_Missense_Mutation_p.E538K|CLGN_ENST00000537281.1_Missense_Mutation_p.E538K	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	538					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					TTTTTTTCCTCTTCCAGGTCC	0.363000													50	143					0	0	0.003610	0	0
ARHGAP26	23092	broad.mit.edu	37	5	142593624	142593624	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:142593624C>T	ENST00000378004.3	+	22	2517	c.2162C>T	c.(2161-2163)tCg>tTg	p.S721L	ARHGAP26_ENST00000486650.1_3'UTR|ARHGAP26_ENST00000274498.4_Missense_Mutation_p.S776L	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	776					actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	p.S776L(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCAGAACTTTCGTTCACAGCA	0.483000													6	15					0	0	0.001984	0	0
SIMC1	375484	broad.mit.edu	37	5	175722211	175722211	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:175722211C>A	ENST00000443967.1	+	5	1960	c.1553C>A	c.(1552-1554)tCt>tAt	p.S518Y	SIMC1_ENST00000429602.2_Missense_Mutation_p.S537Y|SIMC1_ENST00000430704.2_Missense_Mutation_p.S103Y|SIMC1_ENST00000341199.6_Missense_Mutation_p.S103Y					SUMO-interacting motifs containing 1																		CTCAGTGGCTCTGAGACTGTG	0.473000													10	46					3.86212e-05	3.90201e-05	0.008291	1	0
TCHHL1	126637	broad.mit.edu	37	1	152059011	152059011	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:152059011C>T	ENST00000368806.1	-	3	1211	c.1147G>A	c.(1147-1149)Gaa>Aaa	p.E383K		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	383							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TCAGATGTTTCTGAACCATTT	0.463000													212	132					0	0	0.003610	0	0
FGFR1	2260	broad.mit.edu	37	8	38282138	38282138	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:38282138G>A	ENST00000341462.5	-	7	1769	c.828C>T	c.(826-828)ttC>ttT	p.F276F	FGFR1_ENST00000356207.5_Silent_p.F186F|FGFR1_ENST00000397108.4_Silent_p.F273F|FGFR1_ENST00000397091.5_Silent_p.F273F|FGFR1_ENST00000532791.1_Silent_p.F275F|FGFR1_ENST00000335922.5_Silent_p.F267F|FGFR1_ENST00000397113.2_Silent_p.F273F|FGFR1_ENST00000397103.1_Silent_p.F184F|FGFR1_ENST00000425967.3_Silent_p.F306F|FGFR1_ENST00000326324.6_Silent_p.F184F|RP11-350N15.4_ENST00000528407.1_RNA|FGFR1_ENST00000447712.2_Silent_p.F275F			P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	275	Ig-like C2-type 3.				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	CCTTACACATGAACTCCACGT	0.582000		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""						40	90					0	0	0.002522	0	0
RRAD	6236	broad.mit.edu	37	16	66957471	66957471	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:66957471G>A	ENST00000299759.6	-	4	847	c.597C>T	c.(595-597)atC>atT	p.I199I	RRAD_ENST00000420652.1_Silent_p.I199I			P55042	RAD_HUMAN	Ras-related associated with diabetes	199					small GTPase mediated signal transduction	plasma membrane	calmodulin binding|GTP binding|GTPase activity			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		TGCCCACGAGGATGATGGGCA	0.622000													36	70					0	0	0.006230	0	0
PLEKHO1	51177	broad.mit.edu	37	1	150129122	150129122	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:150129122C>T	ENST00000369124.4	+	4	614	c.336C>T	c.(334-336)ttC>ttT	p.F112F	PLEKHO1_ENST00000479194.1_3'UTR|PLEKHO1_ENST00000369126.1_5'UTR|PLEKHO1_ENST00000025469.6_Silent_p.F112F	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	112	PH.					cytoplasm|nucleus|plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACCTGATCTTCCTGGCAGTGA	0.502000													35	82					0	0	0.007835	0	0
OR5V1	81696	broad.mit.edu	37	6	29323635	29323635	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:29323635A>G	ENST00000377154.1	-	4	637	c.338T>C	c.(337-339)cTc>cCc	p.L113P	OR5V1_ENST00000543825.1_Missense_Mutation_p.L113P			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGCCAGTAGGAGACACTCTGA	0.403000													20	45					0	0	0.007413	0	0
ELK3	2004	broad.mit.edu	37	12	96641178	96641178	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:96641178C>T	ENST00000228741.3	+	3	994	c.668C>T	c.(667-669)tCc>tTc	p.S223F	ELK3_ENST00000552142.1_Intron	NM_005230.2	NP_005221.2	P41970	ELK3_HUMAN	ELK3, ETS-domain protein (SRF accessory protein 2)	223					negative regulation of transcription, DNA-dependent|signal transduction	mitochondrion	protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.S223C(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					GCCAAGATCTCCTCTTTAATG	0.622000													33	80					0	0	0.002445	0	0
TMEM61	199964	broad.mit.edu	37	1	55452017	55452017	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:55452017C>T	ENST00000371268.3	+	2	537	c.263C>T	c.(262-264)tCc>tTc	p.S88F	RP11-12C17.2_ENST00000436960.1_RNA	NM_182532.1	NP_872338.1	Q8N0U2	TMM61_HUMAN	transmembrane protein 61	88						integral to membrane				endometrium(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	4						CTGCTGTGGTCCGTCAAGGCC	0.637000													56	101					0	0	0.003610	0	0
ZNF99	7652	broad.mit.edu	37	19	22940632	22940632	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:22940632C>T	ENST00000397104.3	-	5	1805	c.1806G>A	c.(1804-1806)agG>agA	p.R602R	ZNF99_ENST00000596209.1_Silent_p.R693R					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TCTTATGTTTCCTAAGGGCTG	0.373000													20	47					0	0	0.003330	0	0
APOA5	116519	broad.mit.edu	37	11	116662534	116662534	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:116662534G>A	ENST00000542499.1	-	2	115	c.43C>T	c.(43-45)Ctt>Ttt	p.L15F	APOA5_ENST00000227665.4_Missense_Mutation_p.L15F	NM_001166598.1|NM_052968.4	NP_001160070.1|NP_443200.2	Q6Q788	APOA5_HUMAN	apolipoprotein A-V	15					acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		CCACCTGAAAGAAGAGCCAGA	0.632000											OREG0003485|OREG0021366	type=REGULATORY REGION|Gene=APOA5|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	51	63					0	0	0.003610	0	0
TMEM104	54868	broad.mit.edu	37	17	72832415	72832415	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:72832415C>T	ENST00000335464.5	+	10	1242	c.1080C>T	c.(1078-1080)ttC>ttT	p.F360F	TMEM104_ENST00000417024.2_Intron|TMEM104_ENST00000582330.1_Silent_p.F360F|TMEM104_ENST00000582773.1_Intron	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	360						integral to membrane				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					TGGGCCTCTTCCCCGTCTTCA	0.627000													66	147					0	0	0.003610	0	0
KL	9365	broad.mit.edu	37	13	33638239	33638239	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr13:33638239C>T	ENST00000380099.3	+	5	2963	c.2955C>T	c.(2953-2955)ttC>ttT	p.F985F	KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	985					aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TACTGGCTTTCATAGCTTTTC	0.373000													24	40					0	0	0.002299	0	0
OR2F2	135948	broad.mit.edu	37	7	143633243	143633243	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:143633243G>A	ENST00000408955.2	+	1	985	c.918G>A	c.(916-918)gaG>gaA	p.E306E		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					AACTATTAGAGAAATTCTCTG	0.418000													17	38					0	0	0.006122	0	0
NCOA3	8202	broad.mit.edu	37	20	46264370	46264370	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:46264370C>T	ENST00000372004.3	+	11	1633	c.1417C>T	c.(1417-1419)Ctt>Ttt	p.L473F	NCOA3_ENST00000371997.3_Missense_Mutation_p.L483F|NCOA3_ENST00000371998.3_Missense_Mutation_p.L473F|NCOA3_ENST00000341724.6_Missense_Mutation_p.L483F	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	473					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GAGTCCTGGTCTTGCCCCAAA	0.493000													20	47					0	0	0.008871	0	0
SALL1	6299	broad.mit.edu	37	16	51175907	51175907	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:51175907C>T	ENST00000251020.4	-	2	259	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000440970.1_5'UTR|SALL1_ENST00000566102.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	76					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GCTGGATTTTCATTTACGATT	0.443000													20	48					0	0	0.008871	0	0
ACTA1	58	broad.mit.edu	37	1	229568806	229568806	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:229568806C>T	ENST00000366684.3	-	2	159	c.57G>A	c.(55-57)gtG>gtA	p.V19V	ACTA1_ENST00000366683.2_Silent_p.V19V	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	19					muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	AGCCGGCTTTCACCAGGCCGG	0.677000													22	95					0	0	0.002780	0	0
CLSTN1	22883	broad.mit.edu	37	1	9833398	9833398	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:9833398T>C	ENST00000377298.4	-	2	938	c.146A>G	c.(145-147)aAc>aGc	p.N49S	CLSTN1_ENST00000377288.3_Missense_Mutation_p.N49S|CLSTN1_ENST00000361311.4_Missense_Mutation_p.N49S	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	49	Cadherin 1.				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		GGTGTTGTCGTTCTCTGTGAC	0.483000													14	16					0	0	0.004007	0	0
SAFB2	9667	broad.mit.edu	37	19	5616247	5616247	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:5616247A>T	ENST00000252542.4	-	4	703	c.439T>A	c.(439-441)Ttt>Att	p.F147I		NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	147					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		TCCTCCCCAAAATCTGGAGCA	0.532000													11	35					0	0	0.001368	0	0
DNAH9	1770	broad.mit.edu	37	17	11666862	11666862	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:11666862G>A	ENST00000262442.3	+	36	7169	c.7101G>A	c.(7099-7101)aaG>aaA	p.K2367K	DNAH9_ENST00000454412.2_Silent_p.K2367K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2367					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACTGCCCTAAGGAAATTTATG	0.488000													23	51					0	0	0.002299	0	0
KIAA1462	57608	broad.mit.edu	37	10	30315736	30315736	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:30315736G>A	ENST00000375377.1	-	3	3442	c.3341C>T	c.(3340-3342)cCc>cTc	p.P1114L		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	1114										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						ACTTGCATCGGGCTCAGCAGG	0.637000													19	57					0	0	0.008871	0	0
SLC6A20	54716	broad.mit.edu	37	3	45801376	45801376	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:45801376C>T	ENST00000358525.4	-	10	1717	c.1602G>A	c.(1600-1602)ctG>ctA	p.L534L	SLC6A20_ENST00000456124.2_Silent_p.L534L|SLC6A20_ENST00000353278.4_Silent_p.L497L	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	534					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CTTGATACTTCAGGGTCCCCG	0.572000													52	84					0	0	0.003610	0	0
CSMD2	114784	broad.mit.edu	37	1	34038265	34038265	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:34038265G>A	ENST00000373381.4	-	50	7779	c.7603C>T	c.(7603-7605)Ccc>Tcc	p.P2535S		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2537	Sushi 15.					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)				CCATTCTTGGGGGCCTCAGGA	0.488000													21	48					0	0	0.001882	0	0
TRPV4	59341	broad.mit.edu	37	12	110252501	110252501	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:110252501G>A	ENST00000418703.2	-	1	195	c.101C>T	c.(100-102)tCc>tTc	p.S34F	TRPV4_ENST00000541794.1_Missense_Mutation_p.S34F|TRPV4_ENST00000544971.1_Missense_Mutation_p.S34F|TRPV4_ENST00000537083.1_Missense_Mutation_p.S34F|TRPV4_ENST00000536838.1_Intron|TRPV4_ENST00000392719.2_Missense_Mutation_p.S34F|TRPV4_ENST00000346520.2_Missense_Mutation_p.S34F|TRPV4_ENST00000261740.2_Missense_Mutation_p.S34F	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	34					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						GGCCAGGGAGGAGAGAGGAAA	0.682000													6	9					0	0	0.001168	0	0
CUEDC1	404093	broad.mit.edu	37	17	55962751	55962751	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:55962751G>A	ENST00000577830.1	-	2	588	c.175C>T	c.(175-177)Ccc>Tcc	p.P59S	CUEDC1_ENST00000577840.1_Intron|CUEDC1_ENST00000360238.2_Missense_Mutation_p.P59S|CUEDC1_ENST00000407144.2_Missense_Mutation_p.P59S	NM_001271875.1	NP_001258804.1	Q9NWM3	CUED1_HUMAN	CUE domain containing 1	59	CUE.									endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						TCCATGTTGGGGAACATGGTC	0.647000													25	81					0	0	0.004656	0	0
MYH15	22989	broad.mit.edu	37	3	108135742	108135742	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:108135742G>A	ENST00000273353.3	-	30	3981	c.3925C>T	c.(3925-3927)Ctg>Ttg	p.L1309L		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1309						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TGGTTTATCAGAGCCTCCTTC	0.428000													19	66					0	0	0.010504	0	0
KIF26B	55083	broad.mit.edu	37	1	245850316	245850316	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:245850316C>T	ENST00000366518.4	+	9	2992	c.2888C>T	c.(2887-2889)tCt>tTt	p.S963F	KIF26B_ENST00000407071.2_Missense_Mutation_p.S1344F			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1344					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CTCATCCTGTCTGAGATGGGA	0.552000													42	14					0	0	0.007835	0	0
MAGEC1	9947	broad.mit.edu	37	X	140996502	140996502	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:140996502G>A	ENST00000285879.4	+	4	3598	c.3312G>A	c.(3310-3312)aaG>aaA	p.K1104K	MAGEC1_ENST00000406005.2_Silent_p.K171K	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1104	MAGE.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCTTACAAGGATGCTTTGA	0.463000										HNSCC(15;0.026)			55	122					0	0	0.003610	0	0
AHI1	54806	broad.mit.edu	37	6	135787209	135787209	+	Silent	SNP	G	G	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:135787209G>C	ENST00000367800.4	-	5	708	c.492C>G	c.(490-492)ggC>ggG	p.G164G	AHI1_ENST00000327035.6_Silent_p.G164G|AHI1_ENST00000457866.2_Silent_p.G164G	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	164						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		GATGATCAACGCCTGGCTGTG	0.443000													38	36					0	0	0.006999	0	0
PYGM	5837	broad.mit.edu	37	11	64526124	64526124	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:64526124G>A	ENST00000164139.3	-	2	694	c.296C>T	c.(295-297)aCc>aTc	p.T99I	PYGM_ENST00000377432.3_Intron	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	99					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	GTTCACCATGGTGTTCTGTAG	0.587000													24	26					0	0	0.006320	0	0
TKTL2	84076	broad.mit.edu	37	4	164393562	164393562	+	Missense_Mutation	SNP	C	C	T	rs3811750	by1000genomes	TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:164393562C>T	ENST00000280605.3	-	1	1485	c.1325G>A	c.(1324-1326)cGa>cAa	p.R442Q		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	442			R -> Q (in dbSNP:rs3811750).			cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GGGAATGCTTCGGAACATGGC	0.468000													25	47					0	0	0.004656	0	0
ASNSD1	54529	broad.mit.edu	37	2	190531889	190531889	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:190531889C>T	ENST00000260952.4	+	4	1444	c.1031C>T	c.(1030-1032)cCt>cTt	p.P344L	ASNSD1_ENST00000607062.1_Intron	NM_019048.2	NP_061921.1	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	344	Asparagine synthetase.				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			CGTCATATTCCTTTAGATGAA	0.373000													29	77					0	0	0.006320	0	0
IGHV1-45	28466	broad.mit.edu	37	14	106963192	106963192	+	RNA	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:106963192C>T	ENST00000390621.2	-	0	147																											CAGTCTTCTTCACCTCAGCCC	0.592000													21	60					0	0	0.010504	0	0
SEMG2	6407	broad.mit.edu	37	20	43850574	43850574	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:43850574G>A	ENST00000372769.3	+	2	391	c.301G>A	c.(301-303)Ggt>Agt	p.G101S		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	101	Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				ACAACACCTAGGTGGAAGTCA	0.373000													16	44					0	0	0.003163	0	0
GRM7	2917	broad.mit.edu	37	3	7620949	7620949	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:7620949G>A	ENST00000486284.1	+	8	2630	c.2356G>A	c.(2356-2358)Gaa>Aaa	p.E786K	GRM7_ENST00000403881.1_Missense_Mutation_p.E786K|GRM7_ENST00000357716.4_Missense_Mutation_p.E786K|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000389336.4_Missense_Mutation_p.E786K|GRM7_ENST00000402647.2_Missense_Mutation_p.E786K	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	786					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GAATTTTAACGAAGCCAAGCC	0.433000													10	28					0	0	0.008291	0	0
FBXO21	23014	broad.mit.edu	37	12	117627100	117627100	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:117627100G>A	ENST00000427718.2	-	2	381	c.307C>T	c.(307-309)Cgg>Tgg	p.R103W	FBXO21_ENST00000330622.5_Missense_Mutation_p.R103W	NM_015002.2|NM_033624.2	NP_055817.1|NP_296373.1	O94952	FBX21_HUMAN	F-box protein 21	103					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity	p.R103W(1)		breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		GCTTTTTGCCGAACTTTATAC	0.478000													29	72					0	0	0.006320	0	0
UBBP4	23666	broad.mit.edu	37	17	21731248	21731248	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:21731248G>A	ENST00000584755.1	+	2	947	c.550G>A	c.(550-552)Gat>Aat	p.D184N	UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Intron																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						CAAGATCCAAGATAAAGAAGG	0.527000													17	56					0	0	0.008871	0	0
SEMA3A	10371	broad.mit.edu	37	7	83758442	83758442	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:83758442G>A	ENST00000265362.3	-	3	644	c.330C>T	c.(328-330)atC>atT	p.I110I	SEMA3A_ENST00000436949.1_Silent_p.I110I	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	110	Sema.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						TGCTTACCAGGATGTCTTTTC	0.348000													10	30					0	0	0.000978	0	0
SLC22A16	85413	broad.mit.edu	37	6	110752417	110752417	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:110752417G>A	ENST00000368919.3	-	7	1544	c.1478C>T	c.(1477-1479)cCg>cTg	p.P493L	SLC22A16_ENST00000330550.4_Missense_Mutation_p.P459L|SLC22A16_ENST00000439654.1_Missense_Mutation_p.P493L	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	493					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		CACAGAGAACGGCGCCAGGAT	0.572000													23	27					0	0	0.005443	0	0
USP32	84669	broad.mit.edu	37	17	58282963	58282963	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:58282963G>A	ENST00000300896.4	-	26	3288	c.3094C>T	c.(3094-3096)Cta>Tta	p.L1032L	USP32_ENST00000592339.1_Silent_p.L702L	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1032					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			GGTCGGGGTAGGTCCCCATTG	0.413000													31	96					0	0	0.003271	0	0
MYO3B	140469	broad.mit.edu	37	2	171248994	171248994	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:171248994T>C	ENST00000334231.6	+	16	1807	c.1807T>C	c.(1807-1809)Ttc>Ctc	p.F603L	MYO3B_ENST00000408978.4_Missense_Mutation_p.F594L|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.F594L			Q8WXR4	MYO3B_HUMAN	myosin IIIB	594	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GATTATAGGGTTCACGGACAA	0.393000													6	14					0	0	0.003080	0	0
KCND2	3751	broad.mit.edu	37	7	120385919	120385919	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:120385919C>T	ENST00000331113.4	+	5	2518	c.1553C>T	c.(1552-1554)tCa>tTa	p.S518L		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	518					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					CACAGTCCTTCACTGTCTTCA	0.448000													35	81					0	0	0.005524	0	0
CPAMD8	27151	broad.mit.edu	37	19	17038878	17038878	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:17038878G>A	ENST00000443236.1	-	25	3483	c.3452C>T	c.(3451-3453)aCc>aTc	p.T1151I		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1104						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GACCCCCAGGGTGAAGGCCTC	0.637000													39	48					0	0	0.004878	0	0
EPHB6	2051	broad.mit.edu	37	7	142565436	142565436	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:142565436C>T	ENST00000392957.2	+	12	2608	c.1821C>T	c.(1819-1821)ctC>ctT	p.L607L	EPHB6_ENST00000442129.1_Silent_p.L607L|EPHB6_ENST00000411471.2_Silent_p.L330L	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	607						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TGGCCTTCCTCCTGCTGGCAG	0.632000													14	36					0	0	0.006122	0	0
WNT8B	7479	broad.mit.edu	37	10	102239763	102239763	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:102239763C>T	ENST00000343737.5	+	3	363	c.235C>T	c.(235-237)Cgc>Tgc	p.R79C		NM_003393.3	NP_003384.2	Q93098	WNT8B_HUMAN	wingless-type MMTV integration site family, member 8B	79					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|determination of dorsal identity|endoderm development|eye development|gastrulation|hypothalamus development|negative regulation of anterior neural cell fate commitment of the neural plate by Wnt receptor signaling pathway|otic placode formation|positive regulation of gene expression|response to estradiol stimulus|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4		Colorectal(252;0.117)		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)		TGGTGGGCTTCGCAGTGGTAA	0.577000													13	32					0	0	0.002450	0	0
MORC1	27136	broad.mit.edu	37	3	108682428	108682428	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:108682428C>T	ENST00000232603.5	-	27	2714	c.2632G>A	c.(2632-2634)Gaa>Aaa	p.E878K	MORC1_ENST00000483760.1_Missense_Mutation_p.E857K	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	878					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						ATTTTTTTTTCATATTGGACC	0.279000													21	23					0	0	0.001882	0	0
RHBDD3	25807	broad.mit.edu	37	22	29656592	29656592	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr22:29656592G>A	ENST00000216085.7	-	6	1130	c.706C>T	c.(706-708)Cct>Tct	p.P236S		NM_012265.1	NP_036397.1	Q9Y3P4	RHBD3_HUMAN	rhomboid domain containing 3	236						integral to membrane	serine-type endopeptidase activity			lung(1)|ovary(1)	2						GGCGGTCCAGGGATGGGAGGC	0.672000													7	12					0	0	0.003080	0	0
IGFBP5	3488	broad.mit.edu	37	2	217543705	217543705	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:217543705G>A	ENST00000233813.4	-	2	1184	c.435C>T	c.(433-435)tcC>tcT	p.S145S		NM_000599.3	NP_000590.1	P24593	IBP5_HUMAN	insulin-like growth factor binding protein 5	145					negative regulation of insulin-like growth factor receptor signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of translation|signal transduction		insulin-like growth factor I binding			endometrium(1)|large_intestine(3)|lung(1)	5		Renal(323;0.0822)		Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTTCAGCTCGGAGATGCGGG	0.602000													23	63					0	0	0.001882	0	0
NLRP1	22861	broad.mit.edu	37	17	5462569	5462569	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:5462569C>T	ENST00000345221.3	-	4	2001	c.1447G>A	c.(1447-1449)Gag>Aag	p.E483K	NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000262467.5_Missense_Mutation_p.E483K|NLRP1_ENST00000354411.3_Missense_Mutation_p.E483K|NLRP1_ENST00000572272.1_Missense_Mutation_p.E483K|NLRP1_ENST00000577119.1_Missense_Mutation_p.E483K|NLRP1_ENST00000269280.4_Missense_Mutation_p.E483K	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	483	NACHT.				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CTGCTGGACTCAGAGAACCCC	0.502000													16	51					0	0	0.004007	0	0
NTRK3	4916	broad.mit.edu	37	15	88678469	88678469	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:88678469C>T	ENST00000394480.1	-	10	1388	c.1067G>A	c.(1066-1068)gGa>gAa	p.G356E	NTRK3_ENST00000360948.2_Missense_Mutation_p.G356E|NTRK3_ENST00000357724.2_Missense_Mutation_p.G356E|NTRK3_ENST00000355254.2_Missense_Mutation_p.G356E|NTRK3_ENST00000558676.1_Missense_Mutation_p.G356E|NTRK3_ENST00000557856.1_Missense_Mutation_p.G356E|NTRK3_ENST00000317501.3_Missense_Mutation_p.G356E|NTRK3_ENST00000542733.2_Missense_Mutation_p.G258E|NTRK3_ENST00000540489.2_Missense_Mutation_p.G356E	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	356	Ig-like C2-type 2.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGAAATCTCTCCCTCTTGGTA	0.557000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			31	75					0	0	0.004289	0	0
ADCY8	114	broad.mit.edu	37	8	131955651	131955651	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:131955651C>T	ENST00000286355.5	-	4	3391	c.1299G>A	c.(1297-1299)caG>caA	p.Q433Q	ADCY8_ENST00000377928.3_Silent_p.Q433Q|RP11-737F9.1_ENST00000523318.1_RNA	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	433					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TGACCAGCTCCTGAGCAGACA	0.483000										HNSCC(32;0.087)			10	23					0	0	0.000978	0	0
COL11A2	1302	broad.mit.edu	37	6	33133414	33133414	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:33133414G>A	ENST00000341947.2	-	63	4889	c.4662C>T	c.(4660-4662)atC>atT	p.I1554I	COL11A2_ENST00000374714.1_Silent_p.I1528I|COL11A2_ENST00000477772.1_5'UTR|COL11A2_ENST00000374708.4_Silent_p.I1468I|COL11A2_ENST00000374712.1_Silent_p.I1473I|COL11A2_ENST00000361917.1_Silent_p.I1447I|COL11A2_ENST00000374713.1_Silent_p.I1507I|COL11A2_ENST00000395197.1_Silent_p.I1494I|COL11A2_ENST00000357486.1_Silent_p.I1533I	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1554	Fibrillar collagen NC1.				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						TCATCTGCTCGATCTCCTCCC	0.652000													40	71					0	0	0.004878	0	0
SNHG14	104472715	broad.mit.edu	37	15	25419986	25419986	+	RNA	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:25419986C>T	ENST00000549301.1	+	0	721				SNHG14_ENST00000441592.2_RNA																							tccctgacttccctcaacaCT	0.517000													34	69					0	0	0.002096	0	0
APAF1	317	broad.mit.edu	37	12	99106141	99106141	+	Silent	SNP	T	T	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:99106141T>C	ENST00000357310.1	+	20	3334	c.2757T>C	c.(2755-2757)gcT>gcC	p.A919A	APAF1_ENST00000333991.1_Intron|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000359972.2_Silent_p.A908A|APAF1_ENST00000550527.1_Silent_p.A951A|APAF1_ENST00000339433.3_Silent_p.A919A|APAF1_ENST00000549007.1_Silent_p.A919A|APAF1_ENST00000547045.1_Silent_p.A919A|APAF1_ENST00000551964.1_Silent_p.A962A	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	962					activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	TGACTGAAGCTCAAGTTAGCT	0.378000													8	25					0	0	0.006214	0	0
FMNL3	91010	broad.mit.edu	37	12	50045760	50045760	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:50045760G>A	ENST00000335154.5	-	14	1792	c.1559C>T	c.(1558-1560)cCa>cTa	p.P520L	FMNL3_ENST00000352151.5_Missense_Mutation_p.P469L|FMNL3_ENST00000293590.5_Missense_Mutation_p.P520L|FMNL3_ENST00000550488.1_Missense_Mutation_p.P520L	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN	formin-like 3	520	Pro-rich.				actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						AGCTGGTGGTGGAGGAAGAGG	0.657000													4	7					0	0	0.009096	0	0
PIK3R6	146850	broad.mit.edu	37	17	8706699	8706699	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:8706699G>A	ENST00000311434.9	-	21	2393	c.2154C>T	c.(2152-2154)tcC>tcT	p.S718S	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	719					platelet activation	cytosol											ACGGTGCCTTGGACTTCTGGG	0.552000													9	31					0	0	0.004482	0	0
GMEB1	10691	broad.mit.edu	37	1	29040629	29040629	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:29040629C>T	ENST00000373816.1	+	10	1174	c.1036C>T	c.(1036-1038)Cac>Tac	p.H346Y	GMEB1_ENST00000480454.1_3'UTR|GMEB1_ENST00000361872.4_Missense_Mutation_p.H346Y|GMEB1_ENST00000294409.2_Missense_Mutation_p.H356Y	NM_024482.2	NP_077808.1	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1	356					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		AGGCCAGGATCACAGGCTGAA	0.498000													38	86					0	0	0.009718	0	0
SPTB	6710	broad.mit.edu	37	14	65239538	65239538	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:65239538C>T	ENST00000389722.3	-	25	5366	c.5313G>A	c.(5311-5313)tgG>tgA	p.W1771*	SPTB_ENST00000556626.1_Nonsense_Mutation_p.W1771*|SPTB_ENST00000389720.3_Nonsense_Mutation_p.W1771*|SPTB_ENST00000389721.5_Nonsense_Mutation_p.W1771*|SPTB_ENST00000542895.1_Nonsense_Mutation_p.W1771*	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1771					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GCCCGTCCTTCCACTCGGCGA	0.632000													19	36					0	0	0.001882	0	0
CPNE4	131034	broad.mit.edu	37	3	131624125	131624125	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:131624125G>A	ENST00000512055.1	-	6	2289	c.163C>T	c.(163-165)Cat>Tat	p.H55Y	CPNE4_ENST00000512332.1_Missense_Mutation_p.H73Y|CPNE4_ENST00000502818.1_Missense_Mutation_p.H73Y|CPNE4_ENST00000429747.1_Missense_Mutation_p.H55Y|CPNE4_ENST00000511604.1_Missense_Mutation_p.H55Y			Q96A23	CPNE4_HUMAN	copine IV	55	C2 1.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						CACTGCCCATGAGACTGCATC	0.473000													33	99					0	0	0.004878	0	0
HSP90AB2P	391634	broad.mit.edu	37	4	13338968	13338968	+	RNA	SNP	G	G	A	rs61751720	by1000genomes	TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:13338968G>A	ENST00000602906.1	+	0	756																				kidney(3)|lung(1)	4						AGCCTATTTGGACCAGAAACA	0.408000													10	18					0	0	0.008291	0	0
ATP2B3	492	broad.mit.edu	37	X	152815137	152815137	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:152815137G>A	ENST00000370186.1	+	9	1805	c.1479G>A	c.(1477-1479)aaG>aaA	p.K493K	ATP2B3_ENST00000349466.2_Silent_p.K507K|ATP2B3_ENST00000359149.3_Silent_p.K507K|ATP2B3_ENST00000393842.1_Silent_p.K493K|ATP2B3_ENST00000370181.2_Silent_p.K493K|ATP2B3_ENST00000263519.4_Silent_p.K507K			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	507					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)					TGACCCCTAAGATCCTCGACC	0.617000													25	73					0	0	0.005443	0	0
BRWD3	254065	broad.mit.edu	37	X	79964984	79964984	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:79964984A>T	ENST00000373275.4	-	21	2634	c.2418T>A	c.(2416-2418)aaT>aaA	p.N806K	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	806										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						ATGCCTGTGAATTATGCTCTA	0.383000													15	30					0	0	0.006122	0	0
JPH1	56704	broad.mit.edu	37	8	75227656	75227656	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:75227656G>A	ENST00000342232.4	-	2	619	c.579C>T	c.(577-579)ttC>ttT	p.F193F		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	193					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			AGTTGAGCACGAAACCGCCGC	0.677000													25	38					0	0	0.003954	0	0
CDH7	1005	broad.mit.edu	37	18	63430284	63430284	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:63430284G>A	ENST00000536984.2	+	2	900	c.206G>A	c.(205-207)gGa>gAa	p.G69E	CDH7_ENST00000323011.3_Missense_Mutation_p.G69E|CDH7_ENST00000397968.2_Missense_Mutation_p.G69E|CDH7_ENST00000581601.1_3'UTR			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	69	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CTCTATGTAGGAAAGGTAGGG	0.408000													4	31					0	0	0.001168	0	0
SLC22A20	440044	broad.mit.edu	37	11	64981824	64981824	+	RNA	SNP	C	C	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:64981824C>G	ENST00000525437.1	+	0	442							A6NK97	S22AK_HUMAN							ion transport	integral to membrane	transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						GGCCCGCACTCTCCGAGACCT	0.677000													9	15					0	0	0.000978	0	0
GABRA6	2559	broad.mit.edu	37	5	161113261	161113261	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:161113261G>A	ENST00000523217.1	+	2	306	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K	GABRA6_ENST00000274545.5_Missense_Mutation_p.E22K|GABRA6_ENST00000522269.1_3'UTR	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	22					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AGGGAAACTCGAAGTTGAAGG	0.478000										TCGA Ovarian(5;0.080)			25	57					0	0	0.004656	0	0
CHL1	10752	broad.mit.edu	37	3	382569	382569	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:382569C>T	ENST00000256509.2	+	6	1120	c.478C>T	c.(478-480)Cca>Tca	p.P160S	CHL1_ENST00000397491.2_Missense_Mutation_p.P160S	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	160	Ig-like C2-type 2.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CAAAGGCCTCCCACCTTTACA	0.398000													4	17					0	0	0.009096	0	0
KRT82	3888	broad.mit.edu	37	12	52790747	52790747	+	Missense_Mutation	SNP	G	G	A	rs139209735	byFrequency	TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:52790747G>A	ENST00000257974.2	-	6	1065	c.988C>T	c.(988-990)Cgc>Tgc	p.R330C	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	330	Coil 2.|Rod.					keratin filament	protein binding|structural constituent of epidermis			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		TTACGGTTGCGGAGGTTGTCA	0.557000													20	30					0	0	0.007413	0	0
LAD1	3898	broad.mit.edu	37	1	201354881	201354881	+	Missense_Mutation	SNP	C	C	T	rs143101113		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:201354881C>T	ENST00000391967.2	-	4	1380	c.1079G>A	c.(1078-1080)cGa>cAa	p.R360Q	LAD1_ENST00000367313.3_Missense_Mutation_p.R374Q	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	360						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						GCTGTAGGTTCGCTGTGTGGG	0.597000											OREG0014078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	146	112					0	0	0.003610	0	0
ISM2	145501	broad.mit.edu	37	14	77948818	77948818	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:77948818C>T	ENST00000393684.3	-	5	947	c.556G>A	c.(556-558)Gac>Aac	p.D186N	ISM2_ENST00000429906.1_Missense_Mutation_p.D193N|ISM2_ENST00000342219.4_Missense_Mutation_p.D274N|ISM2_ENST00000493585.1_Intron|ISM2_ENST00000412904.1_Missense_Mutation_p.D193N			Q6H9L7	ISM2_HUMAN	isthmin 2	274						extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						gaaggatagtcctcgtcttcc	0.552000													19	41					0	0	0.006122	0	0
CROCCP2	84809	broad.mit.edu	37	1	16956650	16956650	+	RNA	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:16956650G>A	ENST00000412962.1	-	0	294																											GGGGCGTGGGGATCACAGAGT	0.647000													5	32					0	0	0.000602	0	0
AIM1L	55057	broad.mit.edu	37	1	26664929	26664929	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:26664929G>A	ENST00000527815.1	-	6	811	c.762C>T	c.(760-762)ccC>ccT	p.P254P	AIM1L_ENST00000308182.5_Silent_p.P83P|AIM1L_ENST00000522993.1_5'UTR	NM_001039775.3	NP_001034864.2	Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	83	Beta/gamma crystallin 'Greek key' 5.						sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		CCAGGATGTAGGGAGTGTCTT	0.562000													30	85					0	0	0.002445	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217583	150217583	+	Missense_Mutation	SNP	G	G	A	rs80028286	by1000genomes	TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:150217583G>A	ENST00000313543.4	+	2	678	c.521G>A	c.(520-522)aGt>aAt	p.S174N		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	174							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAGAAAACCAGTAAGGCAGAG	0.483000													11	56					0	0	0.008291	0	0
KCNK13	56659	broad.mit.edu	37	14	90651053	90651053	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:90651053G>A	ENST00000282146.4	+	2	1374	c.933G>A	c.(931-933)agG>agA	p.R311R		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	311						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				GATCACGCAGGAACGTGGTGA	0.592000													35	60					0	0	0.003271	0	0
CTNNB1	1499	broad.mit.edu	37	3	41266077	41266077	+	Nonsense_Mutation	SNP	G	G	A	rs121913416		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:41266077G>A	ENST00000349496.5	+	3	354	c.74G>A	c.(73-75)tGg>tAg	p.W25*	CTNNB1_ENST00000396183.3_Nonsense_Mutation_p.W25*|CTNNB1_ENST00000453024.1_Nonsense_Mutation_p.W18*|CTNNB1_ENST00000396185.3_Nonsense_Mutation_p.W25*|CTNNB1_ENST00000405570.1_Nonsense_Mutation_p.W25*	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	25			Missing (in hepatocellular carcinoma).		adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.WQQQSYLD25?(5)|p.W25_D32del(4)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.V22_S33del(2)|p.A5fs*7(2)|p.W25L(2)|p.M5_N141>D(2)|p.S23_S33del(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.D6_S29del(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.H24_L31del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.A5_T59del(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.A20_S111del(1)|p.A5_I35del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	GTTAGTCACTGGCAGCAACAG	0.458000		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				8	23					0	0	0.006214	0	0
APOB	338	broad.mit.edu	37	2	21245703	21245703	+	Splice_Site	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:21245703C>T	ENST00000233242.1	-	18	2943	c.2816_splice	c.e18+1	p.G939_splice		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	939	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AAAGAATTACCCTCCACTGAG	0.468000													74	169					0	0	0.003610	0	0
CFLAR	8837	broad.mit.edu	37	2	202025549	202025549	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:202025549C>T	ENST00000309955.2	+	9	1703	c.1188C>T	c.(1186-1188)caC>caT	p.H396H	CFLAR_ENST00000443227.1_Silent_p.H300H|CFLAR_ENST00000340870.5_Silent_p.H396H|CFLAR_ENST00000479953.2_Silent_p.H300H|CFLAR_ENST00000355558.4_Intron|CFLAR_ENST00000341582.6_Silent_p.H361H|CFLAR_ENST00000457277.1_Silent_p.H396H|CFLAR_ENST00000423241.2_Silent_p.H396H	NM_003879.5	NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	396	Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 subunits p18 and p10.|Interaction with caspase-8.|Not proteolytically processed and involved in apoptosis inhibition.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						GCACAGTTCACCGAGAAGCTG	0.582000													10	30					0	0	0.006214	0	0
NPHP3	27031	broad.mit.edu	37	3	132438567	132438567	+	Silent	SNP	T	T	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:132438567T>C	ENST00000326682.8	-	2	577	c.501A>G	c.(499-501)aaA>aaG	p.K167K	NPHP3_ENST00000343113.4_Silent_p.K167K|NPHP3_ENST00000337331.5_Silent_p.K167K			Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	167					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCCTTTTAACTTTATCTCTGT	0.303000													19	51					0	0	0.008871	0	0
PDE3A	5139	broad.mit.edu	37	12	20803400	20803400	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:20803400G>A	ENST00000359062.3	+	14	2831	c.2791G>A	c.(2791-2793)Gat>Aat	p.D931N	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	931	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	TGTTGGAATAGATTGGACCAA	0.308000													18	41					0	0	0.006122	0	0
FAM72A	729533	broad.mit.edu	37	1	206145485	206145485	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:206145485C>T	ENST00000367128.3	+	3	1110	c.262C>T	c.(262-264)Cca>Tca	p.P88S	FAM72A_ENST00000470041.1_3'UTR|FAM72A_ENST00000341209.5_Missense_Mutation_p.P48S|FAM72A_ENST00000367129.2_Missense_Mutation_p.P88S			Q5TYM5	FA72A_HUMAN	family with sequence similarity 72, member A	88										endometrium(2)	2						TGTGATTGTTCCATGTAGTTC	0.373000													139	150					0	0	0.003610	0	0
PNPLA8	50640	broad.mit.edu	37	7	108143005	108143005	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:108143005G>A	ENST00000426128.2	-	4	1413	c.1288C>T	c.(1288-1290)Cta>Tta	p.L430L	PNPLA8_ENST00000257694.8_Silent_p.L430L|PNPLA8_ENST00000436062.1_Silent_p.L430L|PNPLA8_ENST00000453144.1_Silent_p.L330L|PNPLA8_ENST00000422087.1_Silent_p.L430L|PNPLA8_ENST00000483879.1_5'UTR|PNPLA8_ENST00000388728.5_Silent_p.L430L	NM_001256009.1	NP_001242938.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	430					fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						TAGCCAATTAGGGCCAAAATT	0.368000													20	48					0	0	0.008871	0	0
BSND	7809	broad.mit.edu	37	1	55470708	55470708	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:55470708C>T	ENST00000371265.4	+	2	445	c.191C>T	c.(190-192)cCt>cTt	p.P64L		NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN	Bartter syndrome, infantile, with sensorineural deafness (Barttin)	64						basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						ACCTTCGTCCCTGCTGACTCT	0.582000													18	38					0	0	0.010504	0	0
ELK3	2004	broad.mit.edu	37	12	96641179	96641179	+	Silent	SNP	C	C	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:96641179C>A	ENST00000228741.3	+	3	995	c.669C>A	c.(667-669)tcC>tcA	p.S223S	ELK3_ENST00000552142.1_Intron	NM_005230.2	NP_005221.2	P41970	ELK3_HUMAN	ELK3, ETS-domain protein (SRF accessory protein 2)	223					negative regulation of transcription, DNA-dependent|signal transduction	mitochondrion	protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					CCAAGATCTCCTCTTTAATGT	0.622000													31	77					4.74835e-14	4.85668e-14	0.002096	1	0
FAM171B	165215	broad.mit.edu	37	2	187626570	187626570	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:187626570C>T	ENST00000304698.5	+	8	1704	c.1501C>T	c.(1501-1503)Cta>Tta	p.L501L		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	501						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TAACAACAATCTATCTTCATC	0.388000													13	20					0	0	0.001368	0	0
KCMF1	56888	broad.mit.edu	37	2	85262196	85262196	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:85262196C>T	ENST00000409785.3	+	3	601	c.242C>T	c.(241-243)cCc>cTc	p.P81L		NM_020122.4	NP_064507.3	Q9P0J7	KCMF1_HUMAN	potassium channel modulatory factor 1	81						intracellular	ligase activity|zinc ion binding			ovary(3)	3						TTTACTTGTCCCTATTGTGGA	0.383000													11	21					0	0	0.008291	0	0
TOM1	10043	broad.mit.edu	37	22	35719851	35719851	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr22:35719851C>T	ENST00000382034.5	+	7	733	c.391C>T	c.(391-393)Ctg>Ttg	p.L131L	TOM1_ENST00000411850.1_Silent_p.L198L|TOM1_ENST00000436462.2_Silent_p.L160L|TOM1_ENST00000425375.1_Silent_p.L153L|TOM1_ENST00000447733.1_Silent_p.L165L|TOM1_ENST00000449058.2_Silent_p.L198L			O60784	TOM1_HUMAN	target of myb1 (chicken)	198	VHS.				endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding			NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						TGCTGCCCCTCTGCCCGCCCC	0.617000													26	49					0	0	0.004656	0	0
OR2B3	442184	broad.mit.edu	37	6	29054754	29054754	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:29054754G>A	ENST00000377173.2	-	1	336	c.272C>T	c.(271-273)aCc>aTc	p.T91I		NM_001005226.2	NP_001005226.1			olfactory receptor, family 2, subfamily B, member 3											breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						ATAGCTGATGGTCTTTTTGTT	0.448000													25	54					0	0	0.002780	0	0
AVPR1A	552	broad.mit.edu	37	12	63541150	63541150	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:63541150C>T	ENST00000299178.2	-	2	1351	c.1246G>A	c.(1246-1248)Gtt>Att	p.V416I		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	416					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	CAAGTTGAAACAGGAATGAAT	0.383000													18	48					0	0	0.008871	0	0
MED13	9969	broad.mit.edu	37	17	60033148	60033148	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:60033148A>T	ENST00000397786.2	-	25	5751	c.5675T>A	c.(5674-5676)cTc>cAc	p.L1892H		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1892					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CATGTCTTTGAGCCTTTTACT	0.398000													18	27					0	0	0.007413	0	0
MIS18BP1	55320	broad.mit.edu	37	14	45686323	45686323	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:45686323G>A	ENST00000310806.4	-	13	3360	c.2902C>T	c.(2902-2904)Ctt>Ttt	p.L968F		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	968					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TTCCTTTTAAGAGTTCCCACT	0.368000													32	76					0	0	0.002445	0	0
PRKDC	5591	broad.mit.edu	37	8	48801780	48801780	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:48801780G>A	ENST00000314191.2	-	34	4128	c.4072C>T	c.(4072-4074)Ctg>Ttg	p.L1358L	PRKDC_ENST00000338368.3_Silent_p.L1358L|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1359					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)				TCCTTCTTCAGGAGCTGTAAC	0.478000								Non-homologous end-joining					7	19					0	0	0.001984	0	0
MKRN3	7681	broad.mit.edu	37	15	23811001	23811001	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:23811001G>A	ENST00000314520.3	+	1	548	c.72G>A	c.(70-72)agG>agA	p.R24R	MKRN3_ENST00000568252.1_Silent_p.R24R|MKRN3_ENST00000564592.1_Silent_p.R24R	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	24						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		AGGCAGCAAGGGAGGGTGTGT	0.672000													16	24					0	0	0.008871	0	0
NLRC5	84166	broad.mit.edu	37	16	57070087	57070087	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:57070087G>A	ENST00000436936.1	+	14	2928	c.2703G>A	c.(2701-2703)agG>agA	p.R901R	NLRC5_ENST00000262510.6_Silent_p.R901R|NLRC5_ENST00000308149.7_Silent_p.R901R|NLRC5_ENST00000539144.1_Silent_p.R901R			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	901					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				ACATCGCCAGGAAGCTGGAGT	0.617000													13	25					0	0	0.002450	0	0
GLRA1	2741	broad.mit.edu	37	5	151234728	151234728	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:151234728C>T	ENST00000274576.4	-	6	862	c.570G>A	c.(568-570)acG>acA	p.T190T	GLRA1_ENST00000471351.2_5'UTR|GLRA1_ENST00000455880.2_Silent_p.T190T|GLRA1_ENST00000545569.1_Silent_p.T107T	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	glycine receptor, alpha 1	190					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GGTCATTCATCGTATATCCAA	0.483000													29	70					0	0	0.006320	0	0
GALNS	2588	broad.mit.edu	37	16	88902210	88902210	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:88902210G>A	ENST00000268695.5	-	7	769	c.681C>T	c.(679-681)ttC>ttT	p.F227F	GALNS_ENST00000542788.1_Silent_p.F152F	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfate sulfatase	227						lysosome	metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)	Hyaluronidase(DB00070)	CCCAGTAGAGGAAAAAGGGGT	0.617000													24	51					0	0	0.004656	0	0
NBPF1	55672	broad.mit.edu	37	1	16901664	16901664	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:16901664G>A	ENST00000430580.2	-	20	3067	c.2180C>T	c.(2179-2181)tCg>tTg	p.S727L	NBPF1_ENST00000432949.1_Missense_Mutation_p.S185L|NBPF1_ENST00000287968.8_Missense_Mutation_p.S92L	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	727	NBPF 3.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GGGGGCAGACGATTTCTGCAC	0.428000													20	386					0	0	0.009535	0	0
PARP4	143	broad.mit.edu	37	13	25029162	25029162	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr13:25029162G>A	ENST00000381989.3	-	22	2856	c.2751C>T	c.(2749-2751)ttC>ttT	p.F917F		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	917	VWFA.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		CACCTGTGCCGAACTGGATAA	0.532000													48	136					0	0	0.003610	0	0
FEM1A	55527	broad.mit.edu	37	19	4793243	4793243	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:4793243C>T	ENST00000269856.3	+	1	1516	c.1377C>T	c.(1375-1377)atC>atT	p.I459I	AC005523.2_ENST00000601192.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	459					regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GCACCCAGATCGGCTTTGCAG	0.647000													84	158					0	0	0.003610	0	0
COL6A3	1293	broad.mit.edu	37	2	238285478	238285478	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:238285478C>T	ENST00000295550.4	-	7	3459	c.3007G>A	c.(3007-3009)Gga>Aga	p.G1003R	COL6A3_ENST00000472056.1_Missense_Mutation_p.G396R|COL6A3_ENST00000353578.4_Missense_Mutation_p.G797R|COL6A3_ENST00000392004.3_Missense_Mutation_p.G797R|COL6A3_ENST00000409809.1_Missense_Mutation_p.G797R|COL6A3_ENST00000392003.2_Missense_Mutation_p.G596R|COL6A3_ENST00000347401.3_Missense_Mutation_p.G802R|COL6A3_ENST00000346358.4_Missense_Mutation_p.G803R	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1003	Nonhelical region.|VWFA 5.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TGAAGATCTCCAATCTTGGGA	0.498000													52	152					0	0	0.003610	0	0
TGFBI	7045	broad.mit.edu	37	5	135397195	135397195	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:135397195G>A	ENST00000442011.2	+	15	2074	c.1913G>A	c.(1912-1914)aGa>aAa	p.R638K	TGFBI_ENST00000305126.8_Missense_Mutation_p.R638K|TGFBI_ENST00000508076.1_Missense_Mutation_p.R20K	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	638					angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCAGCCAACAGACCTCAGGAA	0.493000													3	13					0	0	0.004672	0	0
BAAT	570	broad.mit.edu	37	9	104125007	104125007	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:104125007G>A	ENST00000259407.2	-	4	1068	c.960C>T	c.(958-960)ttC>ttT	p.F320F	BAAT_ENST00000395051.3_Silent_p.F320F	NM_001127610.1|NM_001701.3	NP_001121082.1|NP_001692.1	Q14032	BAAT_HUMAN	bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)	320					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	CAATGAAGAGGAATTGCCCCT	0.473000													38	74					0	0	0.006230	0	0
KL	9365	broad.mit.edu	37	13	33635583	33635583	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr13:33635583C>T	ENST00000380099.3	+	4	2375	c.2367C>T	c.(2365-2367)ttC>ttT	p.F789F	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	789	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TTCCTTATTTCACTGAAGATG	0.413000													7	31					0	0	0.001984	0	0
LRFN2	57497	broad.mit.edu	37	6	40400332	40400332	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:40400332T>C	ENST00000338305.6	-	2	1063	c.521A>G	c.(520-522)aAc>aGc	p.N174S		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	174						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CTGGTGGAGGTTGACCATGCG	0.587000													21	53					0	0	0.001882	0	0
THBS4	7060	broad.mit.edu	37	5	79374926	79374926	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:79374926C>T	ENST00000350881.2	+	19	2546	c.2356C>T	c.(2356-2358)Cat>Tat	p.H786Y	THBS4_ENST00000504720.1_3'UTR|THBS4_ENST00000511733.1_Missense_Mutation_p.H695Y|CTD-2201I18.1_ENST00000514042.1_RNA|CTD-2201I18.1_ENST00000503007.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	786	TSP C-terminal.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		AGGGACCTTCCATGTGAATAC	0.453000													25	64					0	0	0.008361	0	0
PSIP1	11168	broad.mit.edu	37	9	15472667	15472667	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:15472667G>A	ENST00000380733.4	-	10	1283	c.940C>T	c.(940-942)Cga>Tga	p.R314*	PSIP1_ENST00000380716.4_Nonsense_Mutation_p.R314*|PSIP1_ENST00000397519.2_Nonsense_Mutation_p.R314*|PSIP1_ENST00000380738.4_Nonsense_Mutation_p.R314*|PSIP1_ENST00000380715.1_Nonsense_Mutation_p.R314*			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	314					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		TTGCGTTTTCGATCTGCTGCT	0.363000													18	24					0	0	0.006122	0	0
ZSWIM8	23053	broad.mit.edu	37	10	75551948	75551948	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:75551948G>A	ENST00000604729.1	+	10	1948	c.1651G>A	c.(1651-1653)Ggc>Agc	p.G551S	ZSWIM8_ENST00000605216.1_Missense_Mutation_p.G551S|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.G551S|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.G551S|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.G551S|ZSWIM8_ENST00000431225.1_3'UTR					zinc finger, SWIM-type containing 8																		CAAGCGAAAGGGCTTGGGTGA	0.667000													5	22					0	0	0.001168	0	0
LINC00842	643650	broad.mit.edu	37	10	47133383	47133383	+	RNA	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:47133383G>A	ENST00000422732.2	-	0	435					NR_033957.1																						ACCGCCAATAGCCACCTTGGT	0.483000													22	174					0	0	0.001882	0	0
COL5A1	1289	broad.mit.edu	37	9	137622145	137622145	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:137622145G>A	ENST00000371817.3	+	7	1402	c.988G>A	c.(988-990)Gaa>Aaa	p.E330K		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	330	Nonhelical 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)		GGCTGGGAAGGAAGAGGACGT	0.617000													43	90					0	0	0.003610	0	0
RIF1	55183	broad.mit.edu	37	2	152320385	152320385	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:152320385C>T	ENST00000243326.4	+	29	4834	c.4351C>T	c.(4351-4353)Ctt>Ttt	p.L1451F	RIF1_ENST00000430328.2_Missense_Mutation_p.L1451F|RIF1_ENST00000428287.2_Missense_Mutation_p.L1451F|RIF1_ENST00000453091.2_Missense_Mutation_p.L1451F|RIF1_ENST00000444746.2_Missense_Mutation_p.L1451F			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	1451					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)		AGAAAAACCTCTTCAGAAGAG	0.358000													20	50					0	0	0.007413	0	0
MBTPS2	51360	broad.mit.edu	37	X	21863441	21863441	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:21863441C>T	ENST00000365779.2	+	3	458	c.377C>T	c.(376-378)tCt>tTt	p.S126F	MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000379484.5_Missense_Mutation_p.S126F			O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	126	Poly-Ser.				cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						tcttcttcctcttcctcttct	0.423000													13	31					0	0	0.001368	0	0
GRIN3A	116443	broad.mit.edu	37	9	104449092	104449092	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:104449092C>T	ENST00000361820.3	-	2	1690	c.1090G>A	c.(1090-1092)Gaa>Aaa	p.E364K		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	364					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GTCCTCAGTTCCTCCACATTC	0.512000													9	21					0	0	0.006214	0	0
MUSK	4593	broad.mit.edu	37	9	113459612	113459612	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:113459612C>T	ENST00000416899.2	+	5	620	c.494C>T	c.(493-495)tCc>tTc	p.S165F	MUSK_ENST00000189978.5_Missense_Mutation_p.S165F|MUSK_ENST00000374440.3_Missense_Mutation_p.S47F|MUSK_ENST00000374439.1_Missense_Mutation_p.S47F|MUSK_ENST00000374448.4_Missense_Mutation_p.S165F			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	165	Ig-like 2.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						CAGGAAAATTCCCGAATTGCA	0.398000													48	155					0	0	0.003610	0	0
HPS1	3257	broad.mit.edu	37	10	100177398	100177398	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:100177398G>A	ENST00000325103.6	-	20	2259	c.2026C>T	c.(2026-2028)Ccc>Tcc	p.P676S	HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000361490.4_Missense_Mutation_p.P676S	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	676					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		AGGTCAGTGGGGATGACAGAC	0.677000									Hermansky-Pudlak syndrome				8	33					0	0	0.004482	0	0
POMK	84197	broad.mit.edu	37	8	42977983	42977983	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:42977983G>A	ENST00000331373.5	+	5	1271	c.1016G>A	c.(1015-1017)aGa>aAa	p.R339K		NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1	Q9H5K3	SG196_HUMAN		339	Protein kinase.					integral to membrane	ATP binding|protein kinase activity										GATACACTTAGAGATGCCATG	0.478000													29	66					0	0	0.003271	0	0
UNC79	57578	broad.mit.edu	37	14	94069764	94069764	+	Splice_Site	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:94069764C>T	ENST00000553484.1	+	26	3908	c.3754_splice	c.e26+1	p.P1252_splice	UNC79_ENST00000256339.4_Splice_Site_p.R1075_splice|UNC79_ENST00000555664.1_Splice_Site_p.R1252_splice|UNC79_ENST00000393151.2_Splice_Site_p.R1252_splice			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1252						integral to membrane		p.P1252S(1)|p.R1075*(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CTCCAAAATTCGTTGAGTATC	0.473000													11	16					0	0	0.000978	0	0
STARD13	90627	broad.mit.edu	37	13	33700223	33700223	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr13:33700223C>T	ENST00000336934.5	-	7	2193	c.2077G>A	c.(2077-2079)Gat>Aat	p.D693N	STARD13_ENST00000399365.3_Missense_Mutation_p.D575N|STARD13_ENST00000255486.4_Missense_Mutation_p.D685N	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	693	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CCTACCTGATCGAGGCAGTTG	0.552000													27	54					0	0	0.006320	0	0
RASSF5	83593	broad.mit.edu	37	1	206711563	206711563	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:206711563G>A	ENST00000338603.2	+	2	577	c.520G>A	c.(520-522)Gag>Aag	p.E174K	RASSF5_ENST00000367117.3_Missense_Mutation_p.E174K|RASSF5_ENST00000355294.4_Missense_Mutation_p.E174K	NM_182663.2	NP_872604.1	Q8WWW0	RASF5_HUMAN	Ras association (RalGDS/AF-6) domain family member 5	174					apoptosis|intracellular signal transduction	cytoplasm|microtubule	metal ion binding|protein binding	p.E174Q(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			CAGTCAGCAGGAGGGTTTATC	0.547000													39	229					0	0	0.006999	0	0
PSG7	5676	broad.mit.edu	37	19	43430593	43430593	+	RNA	SNP	G	G	A	rs111443232		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:43430593G>A	ENST00000446844.3	-	0	1074				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				TACTCACAGAGGACATTCAGG	0.522000													47	97					0	0	0.003610	0	0
NLRC5	84166	broad.mit.edu	37	16	57101722	57101722	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:57101722C>T	ENST00000436936.1	+	36	4706	c.4481C>T	c.(4480-4482)tCt>tTt	p.S1494F	NLRC5_ENST00000262510.6_Missense_Mutation_p.S1494F|NLRC5_ENST00000308149.7_Missense_Mutation_p.S1465F|NLRC5_ENST00000539144.1_Missense_Mutation_p.S1465F			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1494					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CTGTCCCTCTCTGAGCTGAAG	0.537000													30	57					0	0	0.002096	0	0
PSG2	5670	broad.mit.edu	37	19	43579737	43579737	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:43579737C>T	ENST00000406487.1	-	3	576	c.478G>A	c.(478-480)Gag>Aag	p.E160K		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	160	Ig-like C2-type 1.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				TCCATGGCCTCCCTGGGGTTT	0.517000													62	159					0	0	0.003610	0	0
HCLS1	3059	broad.mit.edu	37	3	121350723	121350723	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:121350723G>A	ENST00000314583.3	-	14	1522	c.1431C>T	c.(1429-1431)ttC>ttT	p.F477F	HCLS1_ENST00000428394.2_Silent_p.F440F|HCLS1_ENST00000473883.1_5'UTR	NM_005335.4	NP_005326.2	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	477	SH3.				erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		AATTTGCAGGGAAGAGTCCAA	0.532000													35	45					0	0	0.003271	0	0
TRIM26	7726	broad.mit.edu	37	6	30166566	30166566	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:30166566G>A	ENST00000454678.2	-	4	751	c.315C>T	c.(313-315)caC>caT	p.H105H	TRIM26_ENST00000437089.1_Silent_p.H105H|TRIM26_ENST00000487829.1_5'UTR|TRIM26_ENST00000453195.1_Silent_p.H105H	NM_003449.4	NP_003440.1	Q12899	TRI26_HUMAN	tripartite motif containing 26	105							DNA binding|zinc ion binding			lung(1)|ovary(2)	3						GCTTCTCTCGGTGTCGCTCGC	0.642000													28	56					0	0	0.008361	0	0
CYP2C8	1558	broad.mit.edu	37	10	96802787	96802787	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:96802787G>A	ENST00000371270.3	-	7	1103	c.1009C>T	c.(1009-1011)Ccc>Tcc	p.P337S	CYP2C8_ENST00000539050.1_Missense_Mutation_p.P251S|CYP2C8_ENST00000535898.1_Missense_Mutation_p.P235S	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	337					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	TGCATGCAGGGGCTCCTGTGT	0.483000													22	52					0	0	0.002780	0	0
EPHA3	2042	broad.mit.edu	37	3	89390143	89390143	+	Missense_Mutation	SNP	G	G	A	rs142109561	byFrequency	TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:89390143G>A	ENST00000336596.2	+	4	1117	c.892G>A	c.(892-894)Gaa>Aaa	p.E298K	EPHA3_ENST00000452448.2_Missense_Mutation_p.E298K|EPHA3_ENST00000494014.1_Missense_Mutation_p.E298K	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	298	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TTCTACTCAGGAAGATGGTTC	0.463000										TSP Lung(6;0.00050)			31	61					0	0	0.002096	0	0
CDHR1	92211	broad.mit.edu	37	10	85972965	85972965	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:85972965C>T	ENST00000372117.3	+	16	2004	c.1901C>T	c.(1900-1902)tCc>tTc	p.S634F	CDHR1_ENST00000332904.3_Missense_Mutation_p.S634F|CDHR1_ENST00000440770.2_Missense_Mutation_p.S338F	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	634	Cadherin 6.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						CTCAAGAATTCCATCCGCTCC	0.587000													34	78					0	0	0.002836	0	0
ADAM29	11086	broad.mit.edu	37	4	175898067	175898067	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:175898067T>C	ENST00000359240.3	+	5	2061	c.1391T>C	c.(1390-1392)cTt>cCt	p.L464P	ADAM29_ENST00000445694.1_Missense_Mutation_p.L464P|ADAM29_ENST00000514159.1_Missense_Mutation_p.L464P|ADAM29_ENST00000404450.4_Missense_Mutation_p.L464P	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	464	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)		GAATGTGATCTTCCAGAGTGG	0.453000													30	66					0	0	0.007291	0	0
MPO	4353	broad.mit.edu	37	17	56348085	56348085	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:56348085G>A	ENST00000340482.3	-	11	2442	c.2266C>T	c.(2266-2268)Ccc>Tcc	p.P756S	MPO_ENST00000225275.3_Missense_Mutation_p.P724S			P05164	PERM_HUMAN	myeloperoxidase	724					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	AAGTCCCGGGGATATGAGTTG	0.562000													15	28					0	0	0.002450	0	0
CREBRF	153222	broad.mit.edu	37	5	172517682	172517682	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:172517682C>T	ENST00000540014.1	+	4	819	c.500C>T	c.(499-501)cCc>cTc	p.P167L	CREBRF_ENST00000296953.2_Missense_Mutation_p.P167L|CREBRF_ENST00000520420.1_Missense_Mutation_p.P167L|CREBRF_ENST00000522692.1_Missense_Mutation_p.P167L			Q8IUR6	CE041_HUMAN	CREB3 regulatory factor	167							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity										AAACAAAATCCCTTACCCTCT	0.433000													16	30					0	0	0.004007	0	0
TNFRSF1B	7133	broad.mit.edu	37	1	12267016	12267016	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:12267016G>A	ENST00000376259.3	+	10	1414	c.1325G>A	c.(1324-1326)gGg>gAg	p.G442E	TNFRSF1B_ENST00000492361.1_3'UTR	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B	442					apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)|Infliximab(DB00065)	ACCCTGCTGGGGAGCACCGAA	0.632000													17	28					0	0	0.006122	0	0
NXF3	56000	broad.mit.edu	37	X	102334948	102334948	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:102334948G>A	ENST00000395065.3	-	12	1146	c.1045C>T	c.(1045-1047)Ctg>Ttg	p.L349L	NXF3_ENST00000497850.1_5'UTR|NXF3_ENST00000425644.1_Intron	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	349	NTF2.					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						TACTGCTGCAGGAATTGCAGG	0.483000													69	171					0	0	0.003610	0	0
C17orf97	400566	broad.mit.edu	37	17	263507	263507	+	Silent	SNP	C	C	T	rs71369086		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:263507C>T	ENST00000360127.6	+	2	889	c.873C>T	c.(871-873)gcC>gcT	p.A291A	AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	321	20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.									breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						ACCCCGAGGCCCTCAAGGGCT	0.667000													23	39					0	0	0.005443	0	0
SPTLC1	10558	broad.mit.edu	37	9	94800617	94800617	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:94800617G>A	ENST00000262554.2	-	13	1172	c.1167C>T	c.(1165-1167)tcC>tcT	p.S389S		NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	389						integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	CTGGAGAAAGGGACTCCCCCA	0.473000													23	54					0	0	0.002780	0	0
MYH8	4626	broad.mit.edu	37	17	10315786	10315786	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:10315786G>A	ENST00000403437.2	-	14	1411	c.1317C>T	c.(1315-1317)ttC>ttT	p.F439F	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	439	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CCATCCACAGGAACATCTTCT	0.493000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				68	179					0	0	0.003610	0	0
LMX1B	4010	broad.mit.edu	37	9	129453307	129453307	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:129453307G>A	ENST00000355497.5	+	3	526	c.519G>A	c.(517-519)aaG>aaA	p.K173K	LMX1B_ENST00000526117.1_Silent_p.K173K|LMX1B_ENST00000561065.1_Silent_p.K150K|LMX1B_ENST00000425646.2_Silent_p.K150K|LMX1B_ENST00000373474.4_Silent_p.K173K	NM_001174146.1	NP_001167617.1	O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	150					dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						AGAAGGAGAAGGACCTGCTCA	0.657000									Nail-Patella Syndrome				7	14					0	0	0.001984	0	0
PCDHA5	56143	broad.mit.edu	37	5	140202883	140202883	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:140202883C>T	ENST00000529859.1	+	1	1523	c.1523C>T	c.(1522-1524)tCg>tTg	p.S508L	PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.S508L|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.S508L	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTTACGTTTCGGTGCACGCG	0.701000													27	61					0	0	0.005443	0	0
FAM135B	51059	broad.mit.edu	37	8	139163460	139163460	+	Silent	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:139163460C>T	ENST00000395297.1	-	13	3428	c.3258G>A	c.(3256-3258)gaG>gaA	p.E1086E		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1086										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CACTGACTTCCTCATCCAACG	0.468000										HNSCC(54;0.14)			8	24					0	0	0.004482	0	0
TTN	7273	broad.mit.edu	37	2	179641767	179641767	+	Silent	SNP	T	T	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:179641767T>C	ENST00000589042.1	-	28	5048	c.4824A>G	c.(4822-4824)ggA>ggG	p.G1608G	RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342175.6_Silent_p.G1562G|TTN_ENST00000591111.1_Silent_p.G1608G|TTN_ENST00000359218.5_Silent_p.G1562G|TTN_ENST00000460472.2_Silent_p.G1562G|TTN_ENST00000360870.5_Silent_p.G1608G|TTN_ENST00000342992.6_Silent_p.G1608G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1344	Ig-like 7.						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)			CTCCCTTGGTTCCTTCAATTC	0.398000													19	35					0	0	0.010504	0	0
OASL	8638	broad.mit.edu	37	12	121458471	121458471	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:121458471C>T	ENST00000257570.5	-	6	1708	c.1438G>A	c.(1438-1440)Ggc>Agc	p.G480S	OASL_ENST00000339275.5_3'UTR	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	480	Ubiquitin-like 2.				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGGACTTGGCCTTGGAATTCC	0.537000													109	267					0	0	0.003610	0	0
GPS2	2874	broad.mit.edu	37	17	7217666	7217666	+	Silent	SNP	G	G	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:7217666G>A	ENST00000380728.2	-	4	561	c.261C>T	c.(259-261)ttC>ttT	p.F87F	GPS2_ENST00000391950.3_Silent_p.F87F|RP11-542C16.2_ENST00000575474.1_3'UTR|GPS2_ENST00000389167.5_Silent_p.F87F			Q13227	GPS2_HUMAN	G protein pathway suppressor 2	87					cell cycle|inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				TGAGCTGCAGGAAAAGCTGGT	0.478000													27	109					0	0	0.006320	0	0
SORT1	6272	broad.mit.edu	37	1	109896997	109896998	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:109896997_109896998insC	ENST00000256637.6	-	5	757_758	c.699_700insG	c.(697-702)ctgcacfs	p.H234fs	SORT1_ENST00000538502.1_Frame_Shift_Ins_p.H98fs	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	234					endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		ACTTCAGTGCTGAGAGCTAAAA	0.371													7	290	---	---	---	---					
OR10J1	26476	broad.mit.edu	37	1	159410033	159410033	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:159410033delT	ENST00000423932.3	+	1	522	c.485delT	c.(484-486)atfs	p.I162fs	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	162					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					GCCTGCAGCATTGGGCTGATT	0.502													136	116	---	---	---	---					
NT5DC2	64943	broad.mit.edu	37	3	52563336	52563337	+	Frame_Shift_Ins	INS	-	-	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:52563336_52563337insG	ENST00000307076.4	-	2	535_536	c.135_136insC	c.(133-138)ccaggtfs	p.G46fs	NT5DC2_ENST00000459839.1_Frame_Shift_Ins_p.G83fs|NT5DC2_ENST00000422318.2_Frame_Shift_Ins_p.G83fs|NT5DC2_ENST00000490681.1_5'UTR|NT5DC2_ENST00000307092.4_Frame_Shift_Ins_p.G12fs	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	46							hydrolase activity|metal ion binding			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		CTGCAGACCTCGGGGGGCAGGA	0.594													8	16	---	---	---	---					
LOC101243545	101243545	broad.mit.edu	37	3	161146872	161146873	+	RNA	DEL	AT	AT	-			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:161146872_161146873delAT	ENST00000473595.1	+	0	1231					NR_102265.1																						TGGTGAAAAGATATATATATAT	0.342													5	6	---	---	---	---					
MAS1	4142	broad.mit.edu	37	6	160328707	160328731	+	Frame_Shift_Del	DEL	CGCTATGCCCATGAGACTCCTTTAC	CGCTATGCCCATGAGACTCCTTTAC	-	rs142248825	by1000genomes	TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:160328707_160328731delCGCTATGCCCATGAGACTCCTTTAC	ENST00000252660.4	+	1	734_758	c.720_744delCGCTATGCCCATGAGACTCCTTTAC	c.(718-744)ttfs	p.FAMPMRLLY240fs		NM_002377.2	NP_002368.1	P04201	MAS_HUMAN	MAS1 oncogene	240					anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade	integral to plasma membrane	angiotensin type II receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)		TCCTCATCTTCGCTATGCCCATGAGACTCCTTTACCTGCTGTACT	0.467													11	22	---	---	---	---					
RBAK	57786	broad.mit.edu	37	7	5104021	5104021	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:5104021delT	ENST00000396912.1	+	5	1453	c.934delT	c.(934-936)tafs	p.L312fs	RBAK_ENST00000396904.2_Intron|RBAK_ENST00000353796.3_Frame_Shift_Del_p.L312fs|RBAK_ENST00000407184.1_Intron	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	312					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		GAGATCACACTTAGAGGAGAA	0.438													14	61	---	---	---	---					
SVEP1	79987	broad.mit.edu	37	9	113244641	113244642	+	Splice_Site	INS	-	-	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:113244641_113244642insT	ENST00000401783.2	-	11	2505_2506	c.2170_splice	c.e11+1	p.F724_splice	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Splice_Site_p.F724_splice|SVEP1_ENST00000374461.1_Splice_Site_p.F701_splice|SVEP1_ENST00000374469.1_Splice_Site_p.F701_splice	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	724	HYR 2.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AAGACAATACCTTTTATGACAA	0.396													13	18	---	---	---	---					
LIMA1	51474	broad.mit.edu	37	12	50571483	50571496	+	Frame_Shift_Del	DEL	CCCTTCCTCCAAGG	CCCTTCCTCCAAGG	-			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:50571483_50571496delCCCTTCCTCCAAGG	ENST00000547825.1	-	5	1994_2007	c.725_738delCCTTGGAGGAAGGG	c.(724-738)gfs	p.ALEEG242fs	LIMA1_ENST00000552823.1_Frame_Shift_Del_p.ALEEG384fs|LIMA1_ENST00000552909.1_Frame_Shift_Del_p.ALEEG383fs|LIMA1_ENST00000341247.4_Frame_Shift_Del_p.ALEEG544fs|LIMA1_ENST00000552783.1_Frame_Shift_Del_p.ALEEG385fs|LIMA1_ENST00000394943.3_Frame_Shift_Del_p.ALEEG545fs|LIMA1_ENST00000552491.1_Frame_Shift_Del_p.ALEEG241fs	NM_001243775.1	NP_001230704.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	544					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						ACATTTTGATCCCTTCCTCCAAGGCACTTCCTGA	0.514													30	110	---	---	---	---					
ESYT1	23344	broad.mit.edu	37	12	56527952	56527952	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:56527952delC	ENST00000394048.5	+	14	1796	c.1532delC	c.(1531-1533)atfs	p.T511fs	ESYT1_ENST00000541590.1_Frame_Shift_Del_p.T521fs|ESYT1_ENST00000267113.4_Frame_Shift_Del_p.T521fs	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	511	C2 2.					integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						CAGGATGTGACTCAGGAGAGC	0.517													9	23	---	---	---	---					
NYNRIN	57523	broad.mit.edu	37	14	24879252	24879252	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:24879252delC	ENST00000382554.3	+	4	2570	c.2252delC	c.(2251-2253)gcfs	p.A751fs		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	751					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TGGGAGGGGGCCCCAAGGCAG	0.637													8	28	---	---	---	---					
VPS35	55737	broad.mit.edu	37	16	46715405	46715406	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:46715405_46715406delGG	ENST00000299138.7	-	4	264_265	c.206_207delCC	c.(205-207)gfs	p.A69fs		NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	69					protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CATCAGAAATGGCCATATCTTT	0.371													7	43	---	---	---	---					
MON1B	22879	broad.mit.edu	37	16	77228727	77228733	+	Frame_Shift_Del	DEL	CTGTGTG	CTGTGTG	-			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:77228727_77228733delCTGTGTG	ENST00000248248.3	+	4	1321_1327	c.971_977delCTGTGTG	c.(970-978)ccfs	p.PVC324fs	MON1B_ENST00000545553.1_Frame_Shift_Del_p.PVC178fs|MON1B_ENST00000439557.2_Frame_Shift_Del_p.PVC215fs|MON1B_ENST00000320859.6_Intron	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	324							protein binding	p.V325V(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						GCTTGGGCACCTGTGTGCCTGCCCCGC	0.638													16	55	---	---	---	---					
AC008103.5	0	broad.mit.edu	37	22	18842473	18842473	+	RNA	DEL	G	G	-	rs66618606		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr22:18842473delG	ENST00000412938.1	+	0	2208																											AGCTGCTGGTGGGGAGGTCTT	0.647													3	6	---	---	---	---					
