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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
FAM70B	348013	broad.mit.edu	37	13	114469202	114469202	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr13:114469202C>T	uc001vuh.3	+	1	188	c.161C>T	c.(160-162)aCc>aTc	p.T54I	FAM70B_uc010tkh.2_Missense_Mutation_p.T54I	NM_182614	NP_872420	Q8WV15	FA70B_HUMAN	Homo sapiens family with sequence similarity 70, member B (FAM70B), mRNA.	54						integral to membrane				upper_aerodigestive_tract(1)	1	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.123)|all_epithelial(44;0.133)	all cancers(43;0.181)			GAGAATGTGACCGTTGGGGGC	0.652000														44			7		0	0	0.000157383	0	0
WDR60	55112	broad.mit.edu	37	7	158704297	158704297	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:158704297C>T	uc003woe.4	+	11	1675	c.1517C>T	c.(1516-1518)tCt>tTt	p.S506F	WDR60_uc010lqv.3_Non-coding_Transcript|WDR60_uc010lqw.3_Missense_Mutation_p.S138F	NM_018051	NP_060521	Q8WVS4	WDR60_HUMAN	Homo sapiens WD repeat domain 60 (WDR60), mRNA.	506								p.F505L(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		TTTACTTTCTCTCTCTTGGAT	0.323000														90			13		0	0	0.00136819	0	0
C11orf58	10944	broad.mit.edu	37	11	16776586	16776586	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:16776586C>T	uc001mmk.2	+	4	665	c.487C>T	c.(487-489)Ccc>Tcc	p.P163S		NM_014267	NP_055082	O00193	SMAP_HUMAN	Homo sapiens chromosome 11 open reading frame 58 (C11orf58), mRNA.	163										NS(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)	7						AGTGGAGGATCCCAAAAACAA	0.383000														100			19		0	0	0.000958276	0	0
PPHLN1	51535	broad.mit.edu	37	12	42729760	42729760	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:42729760C>T	uc001rng.1	+	1	161	c.56C>T	c.(55-57)cCt>cTt	p.P19L	PPHLN1_uc001rna.3_Missense_Mutation_p.P26L|PPHLN1_uc001rnb.3_Missense_Mutation_p.P26L|PPHLN1_uc001rnc.3_Missense_Mutation_p.P19L|PPHLN1_uc001rnd.3_Missense_Mutation_p.P26L|PPHLN1_uc001rnf.3_Missense_Mutation_p.P19L|PPHLN1_uc010skq.2_Missense_Mutation_p.P19L|PPHLN1_uc010skr.1_Missense_Mutation_p.P19L|PPHLN1_uc010sks.1_Missense_Mutation_p.P19L|PPHLN1_uc010skt.1_Intron|PPHLN1_uc001rni.1_Missense_Mutation_p.P19L|PPHLN1_uc001rnh.1_Non-coding_Transcript|PPHLN1_uc010sku.1_Missense_Mutation_p.P26L	NM_016488	NP_057572	Q8NEY8	PPHLN_HUMAN	Homo sapiens periphilin 1 (PPHLN1), transcript variant 1, mRNA.	19					keratinization	cytoplasm|nucleus				breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		CGAGCACCTCCTCGAAGTCAT	0.373000														93			22		0	0	0.00229938	0	0
SPTBN4	57731	broad.mit.edu	37	19	41077962	41077962	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:41077962G>A	uc002ony.3	+	33	7443	c.7357G>A	c.(7357-7359)Gaa>Aaa	p.E2453K	SPTBN4_uc002onz.3_Missense_Mutation_p.E2453K|SPTBN4_uc010egx.3_Missense_Mutation_p.E1196K	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	2453	PH.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TAGTAAGGGGGAACTGGGCTT	0.597000														194			46		0	0	0.000781405	0	0
PIK3CG	5294	broad.mit.edu	37	7	106513287	106513287	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:106513287G>A	uc003vdv.4	+	3	2276	c.2191G>A	c.(2191-2193)Gac>Aac	p.D731N	PIK3CG_uc003vdu.3_Missense_Mutation_p.D731N|PIK3CG_uc003vdw.3_Missense_Mutation_p.D731N	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	731					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CATGCTGCACGACTTTACCCA	0.473000														85			9		0	0	0.000442599	0	0
PSMB8	5696	broad.mit.edu	37	6	32810726	32810726	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:32810726G>A	uc003oce.3	-	1	331	c.288C>T	c.(286-288)tcC>tcT	p.S96S	PSMB8_uc003ocf.3_Silent_p.S92S|PSMB8_uc011dqh.2_Silent_p.S96S|LOC100507463_uc021ywa.1_5'Flank|LOC100507463_uc021ywb.1_5'Flank|LOC100507463_uc021ywc.1_5'Flank|LOC100507463_uc021ywd.1_5'Flank	NM_148919	NP_683720	P28062	PSB8_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional peptidase 7) (PSMB8), transcript variant 2, mRNA.	96					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|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|interspecies interaction between organisms|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|type I interferon-mediated signaling pathway|viral reproduction	cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	11						CACTAATGTAGGACCCAGCTG	0.547000														37			5		0	0	0.000602214	0	0
THNSL1	79896	broad.mit.edu	37	10	25314260	25314260	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:25314260C>T	uc001isi.4	+	2	2437	c.2108C>T	c.(2107-2109)cCa>cTa	p.P703L	ENKUR_uc001ish.1_Intron|THNSL1_uc021pol.1_Missense_Mutation_p.P703L	NM_024838	NP_079114	Q8IYQ7	THNS1_HUMAN	Homo sapiens threonine synthase-like 1 (S. cerevisiae) (THNSL1), mRNA.	703					threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)	GCATTACCTCCACTGCATGAG	0.403000														33			8		0	0	0.000157383	0	0
TRPM1	4308	broad.mit.edu	37	15	31342697	31342697	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr15:31342697C>T	uc021sia.1	-	10	1717	c.1403G>A	c.(1402-1404)gGa>gAa	p.G468E	TRPM1_uc010azy.3_Missense_Mutation_p.G336E|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Missense_Mutation_p.G451E|TRPM1_uc001zfm.3_Missense_Mutation_p.G429E	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	429					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		tttcccttttcctcttcctcc	0.562000														29			11		0	0	0.000673444	0	0
DDX4	54514	broad.mit.edu	37	5	55075797	55075797	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:55075797C>T	uc003jqg.4	+	7	499	c.400C>T	c.(400-402)Cga>Tga	p.R134*	DDX4_uc010ivz.3_Nonsense_Mutation_p.R114*|DDX4_uc003jqh.4_Intron|DDX4_uc003jqj.3_Intron	NM_024415	NP_077726	Q9NQI0	DDX4_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 (DDX4), transcript variant 1, mRNA.	134	Gly-rich.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				TATAGGCTATCGAGATGGAAA	0.393000														30			5		0	0	0.000602214	0	0
ASTL	431705	broad.mit.edu	37	2	96803328	96803328	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:96803328G>A	uc010yui.2	-	1	167	c.167C>T	c.(166-168)cCt>cTt	p.P56L		NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN	Homo sapiens astacin-like metallo-endopeptidase (M12 family) (ASTL), mRNA.	56					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						GTTAATTGCAGGAATGTCCTT	0.597000														74			10		0	0	0.000673444	0	0
PGK2	5232	broad.mit.edu	37	6	49754123	49754123	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:49754123C>T	uc003ozu.3	-	0	931	c.778G>A	c.(778-780)Gaa>Aaa	p.E260K		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	260					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					GCTCCCTCTTCATCAAACAGG	0.403000														40			6		0	0	0.00116845	0	0
GABRB1	2560	broad.mit.edu	37	4	47033990	47033990	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:47033990G>A	uc003gxh.3	+	1	514	c.140G>A	c.(139-141)gGa>gAa	p.G47E	GABRB1_uc011bze.2_5'UTR|GABRB1_uc011bzd.1_Missense_Mutation_p.G47E|GABRB1_uc010igg.2_Non-coding_Transcript	NM_000812	NP_000803	P18505	GBRB1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 1 (GABRB1), mRNA.	47					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TTGCTCAAAGGATATGACATT	0.443000														110			29		0	0	0.00283554	0	0
ZP2	7783	broad.mit.edu	37	16	21213434	21213434	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr16:21213434C>T	uc010bwn.1	-	10	1477	c.1395G>A	c.(1393-1395)acG>acA	p.T465T	ZP2_uc002dii.2_Silent_p.T426T	NM_003460	NP_003451	Q05996	ZP2_HUMAN	Homo sapiens zona pellucida glycoprotein 2 (sperm receptor) (ZP2), mRNA.	426	ZP.				binding of sperm to zona pellucida|intracellular protein transport	Golgi apparatus|endoplasmic reticulum|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		CCTTATATCTCGTTCCACATC	0.488000														20			4		0	0	0.00024832	0	0
CRAMP1L	57585	broad.mit.edu	37	16	1719023	1719023	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr16:1719023C>T	uc010uvh.2	+	17	3356	c.3356C>T	c.(3355-3357)cCa>cTa	p.P1119L	CRAMP1L_uc002cmf.3_Non-coding_Transcript	NM_020825	NP_065876	Q96RY5	CRML_HUMAN	Homo sapiens Crm, cramped-like (Drosophila) (CRAMP1L), mRNA.	1119	Ser-rich.					nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						CCTCTTTCTCCAGCAAAACTG	0.597000														20			4		0	0	0.000602214	0	0
CCNB1IP1	57820	broad.mit.edu	37	14	20779823	20779823	+	Silent	SNP	C	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr14:20779823C>A	uc021rnp.1	-	6	1331	c.720G>T	c.(718-720)gcG>gcT	p.A240A	CCNB1IP1_uc001vwv.3_Silent_p.A240A|CCNB1IP1_uc001vwx.3_Silent_p.A240A|CCNB1IP1_uc001vwy.3_Silent_p.A240A|CCNB1IP1_uc001vwz.3_Silent_p.A240A	NM_182852	NP_878272	Q9NPC3	CIP1_HUMAN	Homo sapiens cyclin B1 interacting protein 1, E3 ubiquitin protein ligase (CCNB1IP1), transcript variant 4, mRNA.	240						chromosome|nucleus	ligase activity|metal ion binding|protein binding		HMGA2/CCNB1IP1(2)	breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)		TGGGAGAACCCGCAAAAAATG	0.458000			T	HMGA2	leiomyoma									124			9		0.000442599	0.00216387	0.000442599	1	0
PCDHGC5	56097	broad.mit.edu	37	5	140870576	140870576	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:140870576C>T	uc003lla.2	+	0	1769	c.1769C>T	c.(1768-1770)aCc>aTc	p.T590I	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lkv.2_Intron|PCDHGC5_uc003lkw.2_Intron|PCDHGC5_uc003lky.2_Intron|PCDHGC5_uc011dbc.2_Missense_Mutation_p.T590I	NM_018929	NP_061752	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily C, 5 (PCDHGC5), transcript variant 1, mRNA.	590	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTTGGTCACCAAGGTGACA	0.607000														48			5		0	0	0.000602214	0	0
TTLL10	254173	broad.mit.edu	37	1	1117765	1117765	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:1117765C>T	uc001acy.2	+	9	1006	c.855C>T	c.(853-855)ttC>ttT	p.F285F	AK128833_uc001acx.1_5'Flank|TTLL10_uc010nyg.1_Silent_p.F285F|TTLL10_uc001acz.2_Silent_p.F212F	NM_001130045	NP_001123517	Q6ZVT0	TTL10_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 10 (TTLL10), transcript variant 1, mRNA.	285	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AAGAGTTTTTCCCAGAGACCT	0.622000														48			17		0	0	0.00074312	0	0
MAGEA1	4100	broad.mit.edu	37	X	152482212	152482212	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chrX:152482212C>T	uc022chs.1	-	0	799	c.799G>A	c.(799-801)Ggt>Agt	p.G267S	MAGEA1_uc004fhf.2_Missense_Mutation_p.G267S	NM_004988	NP_004979	P43355	MAGA1_HUMAN	Homo sapiens melanoma antigen family A, 1 (directs expression of antigen MZ2-E) (MAGEA1), mRNA.	267	MAGE.					cytoplasm|plasma membrane				breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCCTTGGACCCCACAGGAAC	0.552000														30			14		0	0	0.00185496	0	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74954902	74954902	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:74954902G>A	uc001dge.2	+	23	2521	c.2454G>A	c.(2452-2454)atG>atA	p.M818I	FPGT-TNNI3K_uc001dgf.2_Missense_Mutation_p.M717I	NM_001112808	NP_001106279	Q59H18	TNI3K_HUMAN	Homo sapiens FPGT-TNNI3K readthrough (FPGT-TNNI3K), transcript variant 1, mRNA.	717						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding	p.M717I(1)									AAGTTGTCATGAAGTTAGAAG	0.363000														44			11		0	0	0.000673444	0	0
GOLGA6L10	647042	broad.mit.edu	37	15	82635163	82635163	+	Silent	SNP	C	G	G			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr15:82635163C>G	uc021ssn.1	-	8	1507	c.1407G>C	c.(1405-1407)gcG>gcC	p.A469A		NM_001164465	NP_001157937	A6NI86	GG6LA_HUMAN	Homo sapiens golgin A6 family-like 10 (GOLGA6L10), mRNA.	469								p.A469A(15)		endometrium(1)|kidney(4)	5						CCCTGTTCTCCGCAGCCCGAA	0.478000														11			7		0	0	0.00198382	0	0
APOB	338	broad.mit.edu	37	2	21229223	21229223	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:21229223G>A	uc002red.3	-	25	10645	c.10517C>T	c.(10516-10518)tCt>tTt	p.S3506F		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3506	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	p.L3505I(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATATTCCCGAGAAAGAACCGA	0.453000														254			41		0	0	0.00170553	0	0
PDPR	55066	broad.mit.edu	37	16	70190389	70190389	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr16:70190389C>T	uc002eyf.1	+	18	3204	c.2247C>T	c.(2245-2247)ttC>ttT	p.F749F	CLEC18A_uc002exy.3_Intron|PDPR_uc010vlr.1_Silent_p.F649F|PDPR_uc002eyg.1_Silent_p.F416F|PDPR_uc002eyh.2_Silent_p.F94F|PDPR_uc010vls.1_Silent_p.F94F|PDPR_uc021tkj.1_5'Flank	NM_017990	NP_060460	Q8NCN5	PDPR_HUMAN	Homo sapiens pyruvate dehydrogenase phosphatase regulatory subunit (PDPR), mRNA.	749					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		GCATGGATTTCATTGGTCGCG	0.552000														82			12		0	0	0.00185496	0	0
GABRB2	2561	broad.mit.edu	37	5	160757949	160757949	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:160757949T>A	uc003lys.1	-	8	1236	c.1018A>T	c.(1018-1020)Aaa>Taa	p.K340*	GABRB2_uc011deh.1_Nonsense_Mutation_p.K179*|GABRB2_uc003lyr.1_Nonsense_Mutation_p.K340*|GABRB2_uc003lyt.1_Nonsense_Mutation_p.K340*|GABRB2_uc021yhg.1_Nonsense_Mutation_p.K277*	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	340					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity	p.K339*(1)		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)	TCAGCTGCTTTCTTTTGGCGT	0.498000														84			12		0	0	0.000978159	0	0
C1orf173	127254	broad.mit.edu	37	1	75037864	75037864	+	Missense_Mutation	SNP	C	T	T	rs78010348		TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:75037864C>T	uc001dgg.3	-	13	3749	c.3530G>A	c.(3529-3531)gGa>gAa	p.G1177E		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	1177	Glu-rich.			Missing (in Ref. 1; CAD39076).						NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TTCCCCTCCTCCTTCTTTCCT	0.493000														93			14		0	0	0.00244969	0	0
SIRPB1	10326	broad.mit.edu	37	20	1551704	1551704	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr20:1551704G>A	uc010gai.3	-	3	930	c.831C>T	c.(829-831)ttC>ttT	p.F277F	SIRPB1_uc002wfk.4_Intron	NM_006065	NP_006056	O00241	SIRB1_HUMAN	Homo sapiens signal-regulatory protein beta 1 (SIRPB1), transcript variant 1, mRNA.	277	Ig-like C1-type 2.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CCCGGGGGTAGAAATTGCTCA	0.537000														27			5		0	0	0.00116845	0	0
CMYA5	202333	broad.mit.edu	37	5	79027156	79027156	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:79027156C>T	uc003kgc.3	+	1	2640	c.2568C>T	c.(2566-2568)ttC>ttT	p.F856F		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	856						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)		AACACTCTTTCCCACCACACA	0.488000														25			8		0	0	0.000274275	0	0
OR6C1	390321	broad.mit.edu	37	12	55714509	55714509	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:55714509C>T	uc010spi.2	+	0	126	c.126C>T	c.(124-126)acC>acT	p.T42T		NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 1 (OR6C1), mRNA.	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						GGAACCTGACCCTTATCACAA	0.423000														24			5		0	0	0.000602214	0	0
GABRA6	2559	broad.mit.edu	37	5	161116664	161116664	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:161116664C>T	uc003lyu.2	+	5	890	c.552C>T	c.(550-552)atC>atT	p.I184I	GABRA6_uc003lyv.2_5'UTR	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	184					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)	AAAGTGAAATCATATATACGT	0.343000										TCGA Ovarian(5;0.080)				16			4		0	0	0.00024832	0	0
SGMS1	259230	broad.mit.edu	37	10	52103419	52103419	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:52103419C>T	uc001jje.3	-	6	1410	c.456G>A	c.(454-456)atG>atA	p.M152I	SGMS1_uc010qhk.2_Intron|SGMS1_uc009xot.1_Intron|SGMS1_uc021pqq.1_Missense_Mutation_p.M152I|SGMS1_uc021pqr.1_Intron|SGMS1_uc009xou.1_Missense_Mutation_p.M152I|SGMS1_uc021pqo.1_Missense_Mutation_p.M152I|SGMS1_uc021pqp.1_Non-coding_Transcript	NM_147156	NP_671512	Q86VZ5	SMS1_HUMAN	Homo sapiens sphingomyelin synthase 1 (SGMS1), mRNA.	158					apoptosis|cell growth|sphingomyelin biosynthetic process	Golgi trans cisterna|endoplasmic reticulum|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						CGACCGAGATCATCACTGTGG	0.517000														32			8		0	0	0.000157383	0	0
DNAH7	56171	broad.mit.edu	37	2	196723507	196723507	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:196723507C>T	uc002utj.4	-	42	7859	c.7758G>A	c.(7756-7758)aaG>aaA	p.K2586K		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2586	Stalk (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						CTTCATATCTCTTTTTCATTT	0.373000														55			6		0	0	0.00116845	0	0
CYP2C9	1559	broad.mit.edu	37	10	96698494	96698494	+	Missense_Mutation	SNP	C	T	T	rs67807361		TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:96698494C>T	uc001kka.4	+	0	80	c.55C>T	c.(55-57)Ctc>Ttc	p.L19F	CYP2C9_uc009xut.3_Missense_Mutation_p.L19F|CYP2C9_uc001kjz.3_Missense_Mutation_p.L19F	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	19			L -> I (in allele CYP2C9*7).		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)	TCTCCTTTCACTCTGGAGACA	0.473000														52			7		0	0	0.000274275	0	0
KRT84	3890	broad.mit.edu	37	12	52777487	52777487	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:52777487G>A	uc001sah.1	-	1	690	c.642C>T	c.(640-642)ttC>ttT	p.F214F		NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN	Homo sapiens keratin 84 (KRT84), mRNA.	214	Coil 1B.|Rod.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TGTAGCTCTCGAAGAGTGGCT	0.547000														29			4		0	0	0.00116845	0	0
SIGLEC6	946	broad.mit.edu	37	19	52034553	52034553	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:52034553G>A	uc002pwy.3	-	1	496	c.288C>T	c.(286-288)ctC>ctT	p.L96L	SIGLEC6_uc002pwz.3_Silent_p.L96L|SIGLEC6_uc010ydb.2_Silent_p.L60L|SIGLEC6_uc010ydc.2_Silent_p.L96L|SIGLEC6_uc002pxa.3_Silent_p.L96L|SIGLEC6_uc010eoz.2_Silent_p.L96L|SIGLEC6_uc010epa.2_Silent_p.L85L|SIGLEC6_uc010epb.2_Silent_p.L49L	NM_001245	NP_001236	O43699	SIGL6_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.	96	Ig-like V-type.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		TGGGATCCCAGAGGAGGTGGA	0.547000														50			6		0	0	0.00116845	0	0
NBEAL1	65065	broad.mit.edu	37	2	204066299	204066300	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:204066299_204066300CG>AT	uc002uzt.3	+	48	7518_7519	c.7185_7186CG>AT	c.(7183-7188)cccggg>ccATgg	p.G2396W	NBEAL1_uc021vvj.1_Missense_Mutation_p.G1030W	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	2396							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CTTTTGCTCCCGGGCTAGAGAT	0.376000														379			14		0	0	6.4e-05	0	0
ARMC4	55130	broad.mit.edu	37	10	28260161	28260161	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:28260161G>A	uc009xky.3	-	7	1116	c.1018C>T	c.(1018-1020)Cgc>Tgc	p.R340C	ARMC4_uc010qds.2_Intron|ARMC4_uc010qdt.2_Missense_Mutation_p.R32C|ARMC4_uc001itz.3_Missense_Mutation_p.R340C|ARMC4_uc010qdu.1_Missense_Mutation_p.R32C	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	340							binding	p.R340C(2)		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						ATGTCTTTGCGGAGGGCAGCT	0.418000														30			10		0	0	0.000978159	0	0
ZNF804A	91752	broad.mit.edu	37	2	185800571	185800571	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:185800571G>A	uc002uph.3	+	3	1042	c.448G>A	c.(448-450)Gaa>Aaa	p.E150K		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	150						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AAACTGTAATGAAATTTCCCA	0.373000														42			5		0	0	0.00116845	0	0
MYO7A	4647	broad.mit.edu	37	11	76868390	76868390	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:76868390G>A	uc001oyb.2	+	7	1073	c.801G>A	c.(799-801)aaG>aaA	p.K267K	MYO7A_uc010rsl.2_Silent_p.K267K|MYO7A_uc010rsm.1_Silent_p.K256K|MYO7A_uc001oyc.2_Silent_p.K267K	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	267	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	ATP binding|actin binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AGGATCAGAAGAAGAAGCTGG	0.592000														9			5		0	0	0.00198382	0	0
TECTA	7007	broad.mit.edu	37	11	120996548	120996548	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:120996548C>T	uc010rzo.2	+	6	1741	c.1741C>T	c.(1741-1743)Cca>Tca	p.P581S		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	581					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CCTTGGCATTCCAATTGGAGA	0.592000														22			5		0	0	0.000602214	0	0
RET	5979	broad.mit.edu	37	10	43619124	43619124	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:43619124C>T	uc001jal.3	+	16	2997	c.2807C>T	c.(2806-2808)tCt>tTt	p.S936F	RET_uc001jak.1_Missense_Mutation_p.S936F|RET_uc010qez.1_Missense_Mutation_p.S682F	NM_020975	NP_066124	P07949	RET_HUMAN	Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA.	936	Protein kinase.				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	TGCAGATGGTCTTTTGGTGTC	0.617000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma					81			10		0	0	0.00136819	0	0
MAVS	57506	broad.mit.edu	37	20	3842943	3842943	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr20:3842943C>T	uc002wjw.4	+	4	680	c.508C>T	c.(508-510)Cca>Tca	p.P170S	MAVS_uc002wjx.4_Missense_Mutation_p.P29S|MAVS_uc002wjy.4_5'UTR	NM_020746	NP_001193420	Q7Z434	MAVS_HUMAN	Homo sapiens mitochondrial antiviral signaling protein (MAVS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	170					activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of IP-10 production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CAGAGCCATCCCAAGGAATCC	0.587000														32			4		0	0	0.000602214	0	0
PTHLH	5744	broad.mit.edu	37	12	28116391	28116391	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:28116391C>T	uc001rik.3	-	2	717	c.414G>A	c.(412-414)aaG>aaA	p.K138K	PTHLH_uc001ril.3_Silent_p.K138K|PTHLH_uc001rim.3_Silent_p.K138K|PTHLH_uc001rin.3_Silent_p.K138K	NM_198966	NP_945317	P12272	PTHR_HUMAN	Homo sapiens parathyroid hormone-like hormone (PTHLH), transcript variant 4, mRNA.	138					activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation	cytoplasm|extracellular space|nucleus	hormone activity|peptide hormone receptor binding			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10	Lung SC(9;0.184)					GCCGTTTTTTCTTTTCCTGCT	0.547000														46			7		0	0	0.000157383	0	0
CILP2	148113	broad.mit.edu	37	19	19654824	19654824	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:19654824C>T	uc002nmw.4	+	7	1573	c.1488C>T	c.(1486-1488)ttC>ttT	p.F496F	CILP2_uc002nmv.4_Silent_p.F490F	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	490						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CGCTACGCTTCGCCAGGATTC	0.667000														30			7		0	0	0.000274275	0	0
EEF1A1	1915	broad.mit.edu	37	6	74229131	74229131	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:74229131A>G	uc003phi.3	-	1	1245	c.253T>C	c.(253-255)Tac>Cac	p.Y85H	EEF1A1_uc003phj.3_Missense_Mutation_p.Y85H|EEF1A1_uc021zbs.1_Non-coding_Transcript|EEF1A1_uc003phl.3_Splice_Site_p.N84_splice|EEF1A1_uc003phm.1_Intron|EEF1A1_uc021zbt.1_5'Flank|EEF1A1_uc021zbu.1_5'Flank	NM_001402	NP_001393	P68104	EF1A1_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 alpha 1 (EEF1A1), mRNA.	85						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						GTCACATAGTACTTGCTGGTC	0.428000											OREG0003890	type=REGULATORY REGION|Gene=LOC477388|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		82			17		0	0	0.00152264	0	0
KIF19	124602	broad.mit.edu	37	17	72349661	72349661	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:72349661G>A	uc002jkm.4	+	16	2387	c.2249G>A	c.(2248-2250)tGg>tAg	p.W750*		NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	Homo sapiens kinesin family member 19 (KIF19), mRNA.	750					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CTGGGCAGCTGGATCAACTCT	0.617000														21			6		0	0	0.00198382	0	0
OR6C65	403282	broad.mit.edu	37	12	55795116	55795116	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:55795116G>A	uc010spl.2	+	0	804	c.804G>A	c.(802-804)ttG>ttA	p.L268L		NM_001005518	NP_001005518	A6NJZ3	O6C65_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 65 (OR6C65), mRNA.	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						GTATGGCTTTGAGCAAAGGTG	0.388000														52			10		0	0	0.000978159	0	0
CDC42EP1	11135	broad.mit.edu	37	22	37962530	37962530	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr22:37962530C>T	uc003asz.4	+	1	577	c.174C>T	c.(172-174)ttC>ttT	p.F58F		NM_152243	NP_689449	Q00587	BORG5_HUMAN	Homo sapiens CDC42 effector protein (Rho GTPase binding) 1 (CDC42EP1), mRNA.	58					positive regulation of pseudopodium assembly|regulation of cell shape	Golgi apparatus|actin cytoskeleton|endomembrane system|plasma membrane	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					GGGATGTCTTCGGGGACACGT	0.652000														22			12		0	0	0.00244969	0	0
SLC4A1	6521	broad.mit.edu	37	17	42335162	42335162	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:42335162C>T	uc002igf.4	-	11	1445	c.1296G>A	c.(1294-1296)cgG>cgA	p.R432R	SLC4A1_uc021tyc.1_Intron	NM_000342	NP_000333	P02730	B3AT_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA.	432	Membrane (anion exchange).		R -> W (in ELO antigen).		bicarbonate transport|cellular ion homeostasis	Z disc|basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CCATCTGGTTCCGGGTCTTTT	0.587000														24			11		0	0	0.00136819	0	0
MAGEA4	4103	broad.mit.edu	37	X	151092175	151092175	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chrX:151092175G>A	uc022cgv.1	+	0	39	c.39G>A	c.(37-39)gaG>gaA	p.E13E	MAGEA4_uc004fez.3_Silent_p.E13E|MAGEA4_uc004ffa.3_Silent_p.E13E|MAGEA4_uc004ffb.3_Silent_p.E13E|MAGEA4_uc022cgu.1_Silent_p.E41E|MAGEA4_uc004ffc.3_Silent_p.E13E|MAGEA4_uc004ffd.3_Silent_p.E13E	NM_002362	NP_002353	P43358	MAGA4_HUMAN	Homo sapiens melanoma antigen family A, 4 (MAGEA4), transcript variant 2, mRNA.	13							protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GCAAGCCTGAGGAAGGCGTTG	0.602000														14			6		0	0	0.000274275	0	0
CYP4F12	66002	broad.mit.edu	37	19	15807819	15807819	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:15807819G>A	uc002nbl.3	+	12	1618	c.1499G>A	c.(1498-1500)aGg>aAg	p.R500K		NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.											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)					GAGCCCCGCAGGAAGCTGGAA	0.597000														37			10		0	0	0.000978159	0	0
MLL2	8085	broad.mit.edu	37	12	49445207	49445207	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:49445207G>A	uc001rta.4	-	9	2259	c.2259C>T	c.(2257-2259)tcC>tcT	p.S753S		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	753	Pro-rich.			Missing (in Ref. 1; AAC51734).	chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CAGGCCGGGGGGACAGGTGCG	0.692000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				33			4		0	0	0.000602214	0	0
TMEM156	80008	broad.mit.edu	37	4	39000431	39000431	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:39000431G>A	uc003gto.3	-	1	295	c.187C>T	c.(187-189)Cca>Tca	p.P63S	TMEM156_uc010ifj.3_Missense_Mutation_p.P63S	NM_024943	NP_079219	Q8N614	TM156_HUMAN	Homo sapiens transmembrane protein 156 (TMEM156), mRNA.	63						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						TCCCTTACTGGTTGCAGAAAA	0.358000														18			4		0	0	0.00024832	0	0
HEATR5A	25938	broad.mit.edu	37	14	31817009	31817009	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr14:31817009G>A	uc001wrf.4	-	18	2998	c.2813C>T	c.(2812-2814)tCt>tTt	p.S938F	HEATR5A_uc010ami.3_Missense_Mutation_p.S543F|HEATR5A_uc001wrg.1_Missense_Mutation_p.S527F|HEATR5A_uc010tpk.1_Missense_Mutation_p.S938F	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	Homo sapiens HEAT repeat containing 5A (HEATR5A), mRNA.	932							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TCCAATACAAGAATTTAGGTG	0.428000														18			4		0	0	0.000602214	0	0
TNXB	7148	broad.mit.edu	37	6	32016248	32016249	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:32016248_32016249GG>AA	uc003nzl.2	-	28	10132_10133	c.9930_9931CC>TT	c.(9928-9933)ctccga>ctTTga	p.R3311*	TNXB_uc003nzg.1_5'Flank|TNXB_uc003nzh.1_5'Flank	NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	3358	Fibronectin type-III 25.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCGACCGCTCGGAGGTCTCCGC	0.668000														181			23		0	0	6.4e-05	0	0
ZNF831	128611	broad.mit.edu	37	20	57828981	57828981	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr20:57828981G>A	uc002yan.3	+	4	4217	c.4217G>A	c.(4216-4218)gGt>gAt	p.G1406D		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1406						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGTGAGCATGGTGACTGTACT	0.473000														50			8		0	0	0.000157383	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133674003	133674003	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:133674003C>T	uc003eqa.4	-	3	706	c.432G>A	c.(430-432)caG>caA	p.Q144Q	SLCO2A1_uc011blv.2_Intron|SLCO2A1_uc010htw.1_5'UTR	NM_005630	NP_005621	Q92959	SO2A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2A1 (SLCO2A1), mRNA.	144					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						GCCAATGCTTCTGGCAGAGCT	0.627000														22			4		0	0	0.00024832	0	0
ACP5	54	broad.mit.edu	37	19	11688000	11688000	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:11688000C>A	uc002msg.4	-	1	279	c.133G>T	c.(133-135)Gcc>Tcc	p.A45S	ACP5_uc002msh.4_Missense_Mutation_p.A45S|ACP5_uc002msi.4_Missense_Mutation_p.A45S|ACP5_uc002msj.4_Missense_Mutation_p.A45S|ACP5_uc010dye.1_Missense_Mutation_p.A45S	NM_001611	NP_001602	P13686	PPA5_HUMAN	Homo sapiens acid phosphatase 5, tartrate resistant (ACP5), transcript variant 4, mRNA.	45				AR -> GP (in Ref. 1; AAA76849).	water-soluble vitamin metabolic process	cytosol|integral to membrane|lysosome	acid phosphatase activity|ferric iron binding|ferrous iron binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	9						ATTTCCCGGGCCGTGTGGAAT	0.592000														27			8		1.12685e-05	5.546e-05	0.000274275	1	0
PCDHGC5	56097	broad.mit.edu	37	5	140711128	140711128	+	Missense_Mutation	SNP	C	T	T	rs145926133		TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:140711128C>T	uc003lji.2	+	0	877	c.877C>T	c.(877-879)Cgt>Tgt	p.R293C	PCDHGC5_uc011dan.2_Missense_Mutation_p.R293C	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	294	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R293C(2)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAAATATTTCGTTTAGATTC	0.428000														35			7		0	0	0.00198382	0	0
MEGF8	1954	broad.mit.edu	37	19	42879760	42879760	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:42879760C>T	uc002otl.4	+	40	7805	c.7170C>T	c.(7168-7170)tcC>tcT	p.S2390S	MEGF8_uc002otm.4_Silent_p.S1998S|MEGF8_uc002otn.4_Silent_p.S51S	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	2457	Laminin EGF-like 4.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				ACCCCACGTCCCAGACCAACT	0.657000														11			4		0	0	0.00024832	0	0
ANO5	203859	broad.mit.edu	37	11	22296268	22296268	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:22296268G>A	uc001mqi.2	+	19	2706	c.2389G>A	c.(2389-2391)Gaa>Aaa	p.E797K	ANO5_uc001mqj.2_Missense_Mutation_p.E796K	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	Homo sapiens anoctamin 5 (ANO5), transcript variant 1, mRNA.	797						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGCACCTTCGGAAAAACGAGA	0.373000														43			6		0	0	0.00116845	0	0
FAM171A1	221061	broad.mit.edu	37	10	15256417	15256417	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:15256417C>T	uc001iob.3	-	7	1177	c.1170G>A	c.(1168-1170)acG>acA	p.T390T		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA.	390						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TCAGTTCCTTCGTGCCGGGGG	0.617000														47			11		0	0	0.000673444	0	0
GM2A	2760	broad.mit.edu	37	5	150646988	150646988	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:150646988C>T	uc003ltr.4	+	3	723	c.558C>T	c.(556-558)atC>atT	p.I186I	GM2A_uc011dcr.2_Intron	NM_000405	NP_000396	P17900	SAP3_HUMAN	Homo sapiens GM2 ganglioside activator (GM2A), transcript variant 1, mRNA.	186						lysosome|nucleolus	sphingolipid activator protein activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|upper_aerodigestive_tract(2)	8		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCATCAAGATCGCTGCCTCTC	0.557000														26			5		0	0	0.00116845	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43826561	43826561	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:43826561C>T	uc010skx.2	-	19	2774	c.2774G>A	c.(2773-2775)aGa>aAa	p.R925K	ADAMTS20_uc001rno.1_Missense_Mutation_p.R79K|ADAMTS20_uc001rnp.1_Missense_Mutation_p.R79K	NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	925	TSP type-1 3.					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)		GTCCAAGGTTCTATATCCTTG	0.383000														108			16		0	0	0.000958276	0	0
MED12L	116931	broad.mit.edu	37	3	150911370	150911370	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:150911370G>A	uc003eyp.3	+	13	2191	c.2062G>A	c.(2062-2064)Gaa>Aaa	p.E688K	MED12L_uc011bnz.2_Missense_Mutation_p.E548K|MED12L_uc003eyn.3_Missense_Mutation_p.E723K|MED12L_uc003eyo.3_Missense_Mutation_p.E688K	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	688					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)			GGTGAAGAGGGAAAAGCCAAG	0.408000														68			12		0	0	0.00185496	0	0
OR51S1	119692	broad.mit.edu	37	11	4869588	4869588	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:4869588G>A	uc010qyo.2	-	0	851	c.851C>T	c.(850-852)tCc>tTc	p.S284F		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily S, member 1 (OR51S1), mRNA.	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGGACATAGGATAGAAGAGT	0.448000														39			8		0	0	0.000274275	0	0
HIPK2	28996	broad.mit.edu	37	7	139315928	139315928	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:139315928G>A	uc003vvf.4	-	3	1601	c.1330C>T	c.(1330-1332)Cct>Tct	p.P444S	HIPK2_uc003vvd.4_Missense_Mutation_p.P444S	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	Homo sapiens homeodomain interacting protein kinase 2 (HIPK2), transcript variant 1, mRNA.	444	Interaction with DAXX.|Protein kinase.				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|SMAD protein signal transduction|apoptosis|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent|virus-host interaction	PML body|centrosome|nuclear membrane	ATP binding|SMAD binding|protein serine/threonine kinase activity|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					CTCCACAAAGGATATGGTGAG	0.502000														24			6		0	0	0.00116845	0	0
COL6A3	1293	broad.mit.edu	37	2	238253407	238253407	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:238253407G>A	uc002vwl.2	-	35	7539	c.7254C>T	c.(7252-7254)ttC>ttT	p.F2418F	COL6A3_uc002vwo.2_Silent_p.F2212F|COL6A3_uc010znj.1_Silent_p.F1811F|COL6A3_uc002vwj.2_5'Flank|COL6A3_uc002vwp.1_Silent_p.F239F	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	2418	Nonhelical region.|VWFA 11.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.F2418F(2)		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)		GCATCCGGCCGAAAGTGTCTT	0.567000														65			14		0	0	0.00244969	0	0
GOLT1B	51026	broad.mit.edu	37	12	21661379	21661379	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:21661379C>T	uc001rez.2	+	2	339	c.180C>T	c.(178-180)ttC>ttT	p.F60F	GOLT1B_uc009zis.2_Non-coding_Transcript|GOLT1B_uc009zit.2_Non-coding_Transcript|GOLT1B_uc009ziu.2_Intron	NM_016072	NP_057156	Q9Y3E0	GOT1B_HUMAN	Homo sapiens golgi transport 1B (GOLT1B), mRNA.	60	Phe-rich.				positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum|integral to membrane	signal transducer activity			large_intestine(2)|lung(3)	5						GATTCTTCTTCCAAAAACATA	0.338000														47			10		0	0	0.000442599	0	0
CSMD3	114788	broad.mit.edu	37	8	113529367	113529367	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr8:113529367A>C	uc003ynu.3	-	27	4811	c.4652T>G	c.(4651-4653)gTt>gGt	p.V1551G	CSMD3_uc003yns.3_Missense_Mutation_p.V823G|CSMD3_uc003ynt.3_Missense_Mutation_p.V1511G|CSMD3_uc011lhx.2_Missense_Mutation_p.V1447G	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1551	Sushi 8.					integral to membrane|plasma membrane		p.V1551L(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACATTGAAAAACAACAGTGTC	0.498000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				38			6		0	0	0.00116845	0	0
C13orf33	84935	broad.mit.edu	37	13	31495937	31495937	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr13:31495937C>T	uc001uth.4	+	3	1082	c.741C>T	c.(739-741)atC>atT	p.I247I	TEX26-AS1_uc001utg.2_Intron	NM_032849	NP_116238	Q5VYS4	CM033_HUMAN	Homo sapiens chromosome 13 open reading frame 33 (C13orf33), mRNA.	247										endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8		Lung SC(185;0.0281)		all cancers(112;0.00914)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.0559)|GBM - Glioblastoma multiforme(144;0.244)		AGCCTTTAATCCGAAGGAGCA	0.358000														51			5		0	0	0.00116845	0	0
HDAC1	3065	broad.mit.edu	37	1	32797291	32797291	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:32797291A>G	uc001bvb.1	+	10	1166	c.1103A>G	c.(1102-1104)gAg>gGg	p.E368G	HDAC1_uc010ohf.1_Missense_Mutation_p.E339G|HDAC1_uc001bvc.1_Missense_Mutation_p.E124G	NM_004964	NP_004955	Q13547	HDAC1_HUMAN	Homo sapiens histone deacetylase 1 (HDAC1), mRNA.	368					anti-apoptosis|blood coagulation|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|histone H3 deacetylation|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of androgen receptor signaling pathway|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	NuRD complex|Sin3 complex|cytosol	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|RNA polymerase II transcription corepressor activity|activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|identical protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18		Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113)		KIRC - Kidney renal clear cell carcinoma(1967;0.138)	Vorinostat(DB02546)	CGACTGTTTGAGAACCTTAGA	0.567000														67			10		0	0	0.000673444	0	0
KLK15	55554	broad.mit.edu	37	19	51330339	51330339	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:51330339G>A	uc002ptl.3	-	2	307	c.276C>T	c.(274-276)gtC>gtT	p.V92V	KLK15_uc002ptm.3_Silent_p.V92V|KLK15_uc002ptn.3_Silent_p.V92V|KLK15_uc002pto.3_Silent_p.V91V|KLK15_uc010ych.2_Non-coding_Transcript|KLK15_uc010yci.2_Silent_p.V91V|KLK15_uc010eod.3_Non-coding_Transcript	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN	Homo sapiens kallikrein-related peptidase 15 (KLK15), transcript variant 4, mRNA.	92	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		GGTGTGGAATGACCCGAGACG	0.662000														44			9		0	0	0.000442599	0	0
DPAGT1	1798	broad.mit.edu	37	11	118969132	118969132	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:118969132C>A	uc001pvi.3	-	4	1129	c.709G>T	c.(709-711)Gga>Tga	p.G237*	H2AFX_uc001pvg.3_5'Flank|DPAGT1_uc001pvj.3_Nonsense_Mutation_p.G130*|DPAGT1_uc001pvk.3_Nonsense_Mutation_p.G65*|DPAGT1_uc001pvm.1_Nonsense_Mutation_p.G130*|DPAGT1_uc010rza.2_Nonsense_Mutation_p.G130*	NM_001382	NP_001373	Q9H3H5	GPT_HUMAN	Homo sapiens dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) (DPAGT1), mRNA.	237					dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity|phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		TAGAGCAATCCCAAAGTGGTG	0.438000														98			8		0.000442599	0.00216387	0.000442599	1	0
AGBL2	79841	broad.mit.edu	37	11	47698906	47698906	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:47698906G>A	uc001ngg.3	-	13	2366	c.2064C>T	c.(2062-2064)atC>atT	p.I688I	AGBL2_uc001ngf.3_Non-coding_Transcript|AGBL2_uc010rhq.1_Silent_p.I650I|AGBL2_uc001ngh.1_Intron	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN	Homo sapiens ATP/GTP binding protein-like 2 (AGBL2), mRNA.	688					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						ATTTCTTGTGGATTTCCTGTC	0.323000														34			5		0	0	0.00116845	0	0
RYR1	6261	broad.mit.edu	37	19	38983130	38983130	+	Splice_Site	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:38983130G>A	uc002oit.3	+	38	6258	c.6128_splice	c.e38-1	p.G2043_splice	RYR1_uc002oiu.3_Splice_Site_p.G2043_splice	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	2043	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|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)	CCACTTCCAGGAATTCAGCTA	0.493000														35			12		0	0	0.00136819	0	0
DOPEY2	9980	broad.mit.edu	37	21	37591781	37591781	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr21:37591781C>A	uc002yvg.3	+	9	1320	c.1241C>A	c.(1240-1242)tCg>tAg	p.S414*	DOPEY2_uc011aeb.2_Nonsense_Mutation_p.S414*	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	Homo sapiens dopey family member 2 (DOPEY2), mRNA.	414					Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						AGTGGAAATTCGCTGATAAGG	0.438000														46			8		3.09899e-07	1.53549e-06	0.000274275	1	0
FAM47B	170062	broad.mit.edu	37	X	34961618	34961618	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chrX:34961618C>T	uc004ddi.2	+	0	706	c.670C>T	c.(670-672)Cgc>Tgc	p.R224C		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.	224	Pro-rich.									breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GTCCAGTCTCCGCCCAGAGCC	0.657000														15			6		0	0	0.00116845	0	0
ILKAP	80895	broad.mit.edu	37	2	239092683	239092683	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:239092683A>G	uc002vxv.3	-	6	734	c.604T>C	c.(604-606)Ttc>Ctc	p.F202L	ILKAP_uc010zns.2_Missense_Mutation_p.F134L|ILKAP_uc002vxw.3_Missense_Mutation_p.F82L|ILKAP_uc021vyt.1_Non-coding_Transcript|ILKAP_uc021vyu.1_Missense_Mutation_p.F84L|ILKAP_uc010znt.1_Missense_Mutation_p.F82L	NM_030768	NP_110395	Q9H0C8	ILKAP_HUMAN	Homo sapiens integrin-linked kinase-associated serine/threonine phosphatase (ILKAP), mRNA.	202	PP2C-like.					cytoplasm|protein serine/threonine phosphatase complex	metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		TGTTTAAGGAACTCTTCATCA	0.393000														88			13		0	0	0.00185496	0	0
MCTP1	79772	broad.mit.edu	37	5	94288923	94288923	+	Splice_Site	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:94288923C>T	uc003kkx.2	-	3	981	c.981_splice	c.e3+1	p.K327_splice	MCTP1_uc003kkv.2_Splice_Site_p.K106_splice|MCTP1_uc003kkw.2_Splice_Site_p.K106_splice|MCTP1_uc003kkz.2_Splice_Site	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	Homo sapiens multiple C2 domains, transmembrane 1 (MCTP1), transcript variant L, mRNA.	327	C2 1.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		AATGGCTCACCTTTATATACA	0.358000														15			7		0	0	0.000673444	0	0
BTN3A1	11119	broad.mit.edu	37	6	26413477	26413477	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:26413477G>A	uc003nhv.3	+	9	1467	c.1099G>A	c.(1099-1101)Gag>Aag	p.E367K	BTN3A1_uc011dkj.2_3'UTR|BTN3A1_uc010jqj.3_3'UTR|BTN3A1_uc011dkk.2_Missense_Mutation_p.E315K	NM_007048	NP_008979	O00481	BT3A1_HUMAN	Homo sapiens butyrophilin, subfamily 3, member A1 (BTN3A1), transcript variant 1, mRNA.	367	B30.2/SPRY.				lipid metabolic process	integral to membrane				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GCGTGCCAAGGAGCCCCAGGA	0.507000														79			10		0	0	0.000442599	0	0
PLCB1	23236	broad.mit.edu	37	20	8755313	8755313	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr20:8755313C>T	uc002wnb.3	+	26	3061	c.3058C>T	c.(3058-3060)Cgg>Tgg	p.R1020W	PLCB1_uc010zrb.1_Missense_Mutation_p.R919W|PLCB1_uc002wna.3_Missense_Mutation_p.R1020W|PLCB1_uc002wnc.1_Missense_Mutation_p.R919W|PLCB1_uc002wnd.1_Missense_Mutation_p.R597W	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	1020					CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|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 JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|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						GCTTAATCTTCGGCAAGAACA	0.408000														42			6		0	0	0.00198382	0	0
TRIML1	339976	broad.mit.edu	37	4	189060954	189060954	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:189060954T>A	uc003izm.1	+	0	357	c.242T>A	c.(241-243)cTc>cAc	p.L81H		NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	81					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|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)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GCCAGGCAGCTCCGGTCCCAG	0.637000														34			5		0	0	0.000602214	0	0
LETM1	3954	broad.mit.edu	37	4	1834655	1834655	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:1834655C>T	uc003gdv.3	-	5	1193	c.896G>A	c.(895-897)aGg>aAg	p.R299K		NM_012318	NP_036450	O95202	LETM1_HUMAN	Homo sapiens leucine zipper-EF-hand containing transmembrane protein 1 (LETM1), nuclear gene encoding mitochondrial protein, mRNA.	299	LETM1.				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			ATTGCTGGGCCTCTCCCCTGT	0.597000														55			5		0	0	0.000602214	0	0
NBEA	26960	broad.mit.edu	37	13	36158098	36158098	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr13:36158098G>A	uc021rid.1	+	45	7633	c.7099G>A	c.(7099-7101)Gat>Aat	p.D2367N	NBEA_uc021ric.1_Missense_Mutation_p.D2364N|NBEA_uc010abi.3_Missense_Mutation_p.D1023N|NBEA_uc010tee.1_Missense_Mutation_p.D160N|MAB21L1_uc001uvc.3_Intron|NBEA_uc010tef.2_Missense_Mutation_p.D160N|NBEA_uc010teg.1_Missense_Mutation_p.D160N	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	2367	BEACH.					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GACATGGGAAGATGATCAAAG	0.368000														94			26		0	0	0.000720815	0	0
PPP1R12C	54776	broad.mit.edu	37	19	55614869	55614869	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:55614869C>T	uc002qix.3	-	3	655	c.639G>A	c.(637-639)ctG>ctA	p.L213L	PPP1R12C_uc010yfs.2_Silent_p.L139L|PPP1R12C_uc002qiy.3_Silent_p.L213L	NM_017607	NP_060077	Q9BZL4	PP12C_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 12C (PPP1R12C), mRNA.	213						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		CGCCCCCATTCAGCCAGCACC	0.617000														12			4		0	0	0.00024832	0	0
HLA-G	3135	broad.mit.edu	37	6	29797309	29797309	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:29797309G>A	uc003nnw.2	+	4	912	c.734G>A	c.(733-735)gGg>gAg	p.G245E	HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Missense_Mutation_p.G217E|HLA-G_uc003raj.3_Missense_Mutation_p.G250E|HLA-G_uc003nnz.3_Missense_Mutation_p.G153E|HLA-G_uc010jrn.2_Intron|HLA-G_uc003nny.3_Non-coding_Transcript|HLA-G_uc021ytv.1_Intron|HLA-G_uc003ran.1_5'Flank	NM_002127	NP_002118	P17693	HLAG_HUMAN	Homo sapiens major histocompatibility complex, class I, G (HLA-G), mRNA.	245	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane	MHC class I receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						CAGCGGGATGGGGAGGACCAG	0.632000														65			10		0	0	0.00136819	0	0
FAM13C	220965	broad.mit.edu	37	10	61062601	61062601	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:61062601G>A	uc010qif.1	-	4	599	c.533C>T	c.(532-534)tCg>tTg	p.S178L	FAM13C_uc010qid.2_Missense_Mutation_p.S73L|FAM13C_uc001jkn.3_Missense_Mutation_p.S156L|FAM13C_uc001jko.3_Missense_Mutation_p.S156L|FAM13C_uc010qie.2_Missense_Mutation_p.S73L|FAM13C_uc001jkp.3_Missense_Mutation_p.S73L	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	Homo sapiens family with sequence similarity 13, member C (FAM13C), transcript variant 1, mRNA.	156										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						ATCCTTTGGCGAAATGGCAGT	0.353000														102			10		0	0	0.00136819	0	0
DUSP27	92235	broad.mit.edu	37	1	167097058	167097058	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:167097058G>A	uc001geb.1	+	4	2706	c.2690G>A	c.(2689-2691)cGa>cAa	p.R897Q		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	897	Ser-rich.				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	p.R897*(1)		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						GGGAGCTTCCGATATTCTTCC	0.507000														27			16		0	0	0.000308642	0	0
CCDC60	160777	broad.mit.edu	37	12	119909919	119909919	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:119909919C>T	uc001txe.3	+	2	756	c.291C>T	c.(289-291)ttC>ttT	p.F97F	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	97										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)		GAAATAAATTCCAGCCAGCCG	0.428000														111			22		0	0	0.00278032	0	0
OR1N2	138882	broad.mit.edu	37	9	125315853	125315853	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr9:125315853G>A	uc011lyx.2	+	0	405	c.405G>A	c.(403-405)atG>atA	p.M135I		NM_001004457	NP_001004457	Q8NGR9	OR1N2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily N, member 2 (OR1N2), mRNA.	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						TGGCTGTGATGGCATATGACC	0.502000														54			11		0	0	0.000673444	0	0
FRMPD4	9758	broad.mit.edu	37	X	12712497	12712497	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chrX:12712497G>A	uc004cuz.2	+	8	1363	c.857G>A	c.(856-858)cGa>cAa	p.R286Q	FRMPD4_uc011mij.2_Missense_Mutation_p.R278Q	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	286	FERM.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	p.R286Q(2)		breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TGTCTTTTCCGAATTAGCTTC	0.428000														16			11		0	0	0.000978159	0	0
MDGA1	266727	broad.mit.edu	37	6	37626132	37626132	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:37626132C>T	uc003onu.1	-	2	1450	c.271G>A	c.(271-273)Gag>Aag	p.E91K		NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 1 (MDGA1), mRNA.	91	Ig-like 1.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane		p.E91K(2)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						CGCAGCGTCTCGTTGAACACC	0.647000														38			11		0	0	0.000673444	0	0
KCNG1	3755	broad.mit.edu	37	20	49626525	49626525	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr20:49626525G>A	uc002xwa.4	-	1	646	c.351C>T	c.(349-351)ttC>ttT	p.F117F	KCNG1_uc002xwb.3_Silent_p.F117F	NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 1 (KCNG1), mRNA.	117						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GGTTGCGGTCGAAGAAGAACT	0.647000														44			6		0	0	0.00116845	0	0
GABRE	2564	broad.mit.edu	37	X	151138795	151138795	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chrX:151138795C>T	uc004ffi.3	-	1	190	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K	GABRE_uc011myd.2_Non-coding_Transcript|GABRE_uc011mye.1_Non-coding_Transcript	NM_004961	NP_004952	P78334	GBRE_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA.	46					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel 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)					AGCTGATTTTCCAGAGGCTGG	0.502000														52			17		0	0	0.00152264	0	0
GRIK3	2899	broad.mit.edu	37	1	37267467	37267467	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:37267467G>A	uc001caz.2	-	15	2880	c.2745C>T	c.(2743-2745)gcC>gcT	p.A915A		NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	915					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GGAACACAGGGGCTAAGGATG	0.612000														25			9		0	0	0.000673444	0	0
SAMHD1	25939	broad.mit.edu	37	20	35533826	35533826	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr20:35533826G>A	uc002xgh.2	-	11	1551	c.1351C>T	c.(1351-1353)Cgt>Tgt	p.R451C	SAMHD1_uc010gft.2_Non-coding_Transcript	NM_015474	NP_056289	Q9Y3Z3	SAMH1_HUMAN	Homo sapiens SAM domain and HD domain 1 (SAMHD1), mRNA.	451					defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity	p.R451P(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				AATAGATTACGGTATTCAATT	0.348000														77			29		0	0	0.001512	0	0
BSN	8927	broad.mit.edu	37	3	49691254	49691254	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:49691254G>A	uc003cxe.4	+	4	4379	c.4265G>A	c.(4264-4266)aGc>aAc	p.S1422N		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	1422					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)		TATGGACACAGCCCAACCACT	0.592000														62			16		0	0	0.00152264	0	0
AAED1	195827	broad.mit.edu	37	9	99413953	99413953	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr9:99413953G>A	uc004awm.3	-	2	339	c.303C>T	c.(301-303)taC>taT	p.Y101Y		NM_153698	NP_714542	Q7RTV5	CI021_HUMAN	Homo sapiens chromosome 9 open reading frame 21 (C9orf21), mRNA.	101							antioxidant activity|oxidoreductase activity										CAATATGATGGTAGGATGACT	0.299000														91			9		0	0	0.000978159	0	0
RANBP2	5903	broad.mit.edu	37	2	109384422	109384422	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:109384422C>T	uc002tem.4	+	19	7553	c.7427C>T	c.(7426-7428)aCa>aTa	p.T2476I		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	2476					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GAAGAAACCACAAGAGAGAGG	0.423000														171			39		0	0	0.000781405	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88890083	88890084	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:88890083_88890084CC>TT	uc002stc.4	-	5	1344_1345	c.1042_1043GG>AA	c.(1042-1044)ggg>AAg	p.G348K		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 3 (EIF2AK3), mRNA.	348					ER overload response|activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						AATGACTTTCCCATCCTTAAGT	0.356000														187			27		0	0	6.4e-05	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767189	77767189	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr8:77767189C>T	uc003yau.2	+	9	8419	c.8032C>T	c.(8032-8034)Ccg>Tcg	p.P2678S	ZFHX4_uc003yaw.1_Missense_Mutation_p.P2633S	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2633						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)			TAAACGGTGTCCGTTTTGCCG	0.547000										HNSCC(33;0.089)				42			15		0	0	0.00074312	0	0
C3orf25	90288	broad.mit.edu	37	3	129130042	129130042	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:129130042C>T	uc003emg.3	-	4	1157	c.994G>A	c.(994-996)Gaa>Aaa	p.E332K		NM_207307	NP_997190			Homo sapiens chromosome 3 open reading frame 25 (C3orf25), mRNA.											breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|prostate(2)	23						TTGCCCACTTCCTCCATCTCC	0.637000														11			4		0	0	0.00024832	0	0
TM9SF4	9777	broad.mit.edu	37	20	30745652	30745652	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr20:30745652C>T	uc002wxj.2	+	13	1620	c.1385C>T	c.(1384-1386)cCc>cTc	p.P462L	TM9SF4_uc010zts.1_Missense_Mutation_p.P369L|TM9SF4_uc002wxk.2_Missense_Mutation_p.P445L	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	Homo sapiens transmembrane 9 superfamily protein member 4 (TM9SF4), mRNA.	462						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ATCTCCCTGCCCCTCGTCTAC	0.622000														90			13		0	0	0.00244969	0	0
PUM1	9698	broad.mit.edu	37	1	31479851	31479852	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:31479851_31479852CC>AA	uc001bsi.1	-	3	643_644	c.530_531GG>TT	c.(529-531)tgg>tTT	p.W177F	PUM1_uc001bsh.1_Missense_Mutation_p.W177F|PUM1_uc001bsj.1_Missense_Mutation_p.W177F|PUM1_uc010oga.1_Intron|PUM1_uc001bsk.1_Missense_Mutation_p.W213F|PUM1_uc010ogb.1_Intron	NM_014676	NP_055491	Q14671	PUM1_HUMAN	Homo sapiens pumilio homolog 1 (Drosophila) (PUM1), transcript variant 2, mRNA.	177					cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		CTGATGTTCCCCAGGCACTGTC	0.436000														239			11		0	0	6.4e-05	0	0
LAMP5	24141	broad.mit.edu	37	20	9498701	9498701	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr20:9498701G>A	uc002wni.2	+	4	985	c.490G>A	c.(490-492)Gcc>Acc	p.A164T	LAMP5_uc010zrc.2_Missense_Mutation_p.A120T	NM_012261	NP_036393	Q9UJQ1	CT103_HUMAN	Homo sapiens lysosomal-associated membrane protein family, member 5 (LAMP5), transcript variant 1, mRNA.	164						integral to membrane											GAAGCACACAGCCAACTCGCA	0.527000														23			5		0	0	0.000157383	0	0
CACNA1F	778	broad.mit.edu	37	X	49089751	49089751	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chrX:49089751C>T	uc004dnb.3	-	0	83	c.21G>A	c.(19-21)ggG>ggA	p.G7G	CACNA1F_uc010nip.3_Silent_p.G7G|CCDC22_uc011mna.2_5'Flank|CCDC22_uc004dnd.2_5'Flank	NM_005183	NP_005174	O60840	CAC1F_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), mRNA.	7					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)	TCTCACCTTTCCCGCCTTCAG	0.592000														16			4		0	0	0.00116845	0	0
CYP2C19	1557	broad.mit.edu	37	10	96447635	96447635	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:96447635G>A	uc001kjv.4	+	1	603	c.277G>A	c.(277-279)Gag>Aag	p.E93K	CYP2C19_uc001kjw.4_Missense_Mutation_p.E93K|CYP2C19_uc009xus.1_5'Flank|CYP2C19_uc010qny.2_5'Flank	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	93					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	TCATGGAGAGGAGTTTTCTGG	0.443000														51			7		0	0	0.000157383	0	0
TRBV5-4	28611	broad.mit.edu	37	7	142168493	142168493	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:142168493C>T	uc011kry.1	-	1	396	c.230G>A	c.(229-231)gGa>gAa	p.G77E	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|TRBV5-4_uc022anj.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		AGGGAAGTTTCCTCTGCCATT	0.517000														61			12		0	0	0.00136819	0	0
RTL1	388015	broad.mit.edu	37	14	101350961	101350961	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr14:101350961C>T	uc010txj.1	-	0	224	c.165G>A	c.(163-165)aaG>aaA	p.K55K	MIR136_uc010txk.1_5'Flank	NM_001134888	NP_001128360	E9PKS8	E9PKS8_HUMAN	Homo sapiens retrotransposon-like 1 (RTL1), mRNA.	55										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						GGGGCTCCTTCTTTTCCTGGG	0.622000														18			5		0	0	0.000602214	0	0
ADCY8	114	broad.mit.edu	37	8	131922098	131922098	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr8:131922098C>T	uc003ytd.4	-	5	1752	c.1496G>A	c.(1495-1497)aGg>aAg	p.R499K	ADCY8_uc010mds.3_Missense_Mutation_p.R499K	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	499					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	p.R499M(2)		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)			GTGTTTTGTCCTTGACCGCAC	0.458000										HNSCC(32;0.087)				33			5		0	0	0.00198382	0	0
MAOA	4128	broad.mit.edu	37	X	43542827	43542827	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chrX:43542827G>A	uc004dfy.3	+	1	321	c.140G>A	c.(139-141)aGg>aAg	p.R47K	MAOA_uc011mkw.2_5'UTR	NM_000240	NP_000231	P21397	AOFA_HUMAN	Homo sapiens monoamine oxidase A (MAOA), nuclear gene encoding mitochondrial protein, mRNA.	47					behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	primary amine oxidase activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)	GCTCGGGACAGGGTTGGAGGA	0.373000														26			10		0	0	0.00136819	0	0
TTN	7273	broad.mit.edu	37	2	179558664	179558664	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:179558664C>T	uc021vsy.1	-	114	27991	c.27766G>A	c.(27766-27768)Gag>Aag	p.E9256K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E5917K|TTN_uc010fre.1_Missense_Mutation_p.E367K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	10183	Ig-like 75.						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)			ACTGACACCTCCTCCTCTGTG	0.393000														16			4		0	0	0.00024832	0	0
TPM3	7170	broad.mit.edu	37	1	154164395	154164395	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:154164395C>T	uc001fec.1	-	0	215	c.100G>A	c.(100-102)Gaa>Aaa	p.E34K		NM_152263	NP_689476	P06753	TPM3_HUMAN	Homo sapiens tropomyosin 3 (TPM3), transcript variant 1, mRNA.	33					cellular component movement|muscle filament sliding|regulation of muscle contraction	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding		TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					CTTCTTTCTTCTGCCTGCTTC	0.468000			T	"""NTRK1, ALK, ROS1"""	"""papillary thyroid, ALCL, NSCLC"""									108			41		0	0	0.000781405	0	0
CDH10	1008	broad.mit.edu	37	5	24537561	24537561	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:24537561C>T	uc003jgr.2	-	2	960	c.454G>A	c.(454-456)Gat>Aat	p.D152N	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	152	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TCATTGATATCATGAATTTTG	0.413000										HNSCC(23;0.051)				28			7		0	0	0.00198382	0	0
KRT32	3882	broad.mit.edu	37	17	39623149	39623149	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:39623149G>A	uc002hwr.3	-	0	490	c.429C>T	c.(427-429)taC>taT	p.Y143Y		NM_002278	NP_002269	Q14532	K1H2_HUMAN	Homo sapiens keratin 32 (KRT32), mRNA.	143	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				AATGAGACTGGTAGTCAGGAG	0.587000														25			7		0	0	0.000274275	0	0
FOLH1B	219595	broad.mit.edu	37	11	89402614	89402614	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:89402614G>T	uc001pda.3	+	2	564	c.38G>T	c.(37-39)gGa>gTa	p.G13V		NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN	Homo sapiens folate hydrolase 1B (FOLH1B), mRNA.	13					proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						AGCTGGAGAGGAAGTCTCAAA	0.383000														68			10		1.08611e-07	5.39182e-07	0.000978159	1	0
PITPNC1	26207	broad.mit.edu	37	17	65688717	65688717	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:65688717G>A	uc002jgc.3	+	8	1059	c.712G>A	c.(712-714)Gaa>Aaa	p.E238K	PITPNC1_uc002jgb.3_3'UTR	NM_012417	NP_036549	Q9UKF7	PITC1_HUMAN	Homo sapiens phosphatidylinositol transfer protein, cytoplasmic 1 (PITPNC1), transcript variant 1, mRNA.	238					signal transduction	cytoplasm	lipid binding|phosphatidylinositol transporter activity|protein binding			breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			CCGAGAATTTGAACGAGCCAC	0.453000														68			17		0	0	0.000958276	0	0
RTL1	388015	broad.mit.edu	37	14	101350937	101350937	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr14:101350937G>A	uc010txj.1	-	0	248	c.189C>T	c.(187-189)ctC>ctT	p.L63L	MIR136_uc010txk.1_5'Flank	NM_001134888	NP_001128360	E9PKS8	E9PKS8_HUMAN	Homo sapiens retrotransposon-like 1 (RTL1), mRNA.	63										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						CCATTTCCTGGAGTGGGCCAC	0.622000														28			6		0	0	0.00116845	0	0
VPS35	55737	broad.mit.edu	37	16	46717453	46717453	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr16:46717453C>T	uc002eef.4	-	1	168	c.69G>A	c.(67-69)gtG>gtA	p.V23V	VPS35_uc002eee.3_5'UTR	NM_018206	NP_060676	Q96QK1	VPS35_HUMAN	Homo sapiens vacuolar protein sorting 35 homolog (S. cerevisiae) (VPS35), mRNA.	23					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)				ACTGGACCTTCACAGCCTGTA	0.468000														40			7		0	0	0.000157383	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37499285	37499285	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr22:37499285G>A	uc003aqt.1	-	1	235	c.173C>T	c.(172-174)tCg>tTg	p.S58L	TMPRSS6_uc003aqs.1_Missense_Mutation_p.S67L|TMPRSS6_uc003aqu.3_Missense_Mutation_p.S58L	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA.	67					angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	p.S67L(1)		breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CACCCCCGCCGAAGCCAGCAC	0.627000														22			21		0	0	0.00188189	0	0
ANO8	57719	broad.mit.edu	37	19	17434401	17434401	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:17434401G>A	uc002ngf.2	-	17	3783	c.3624C>T	c.(3622-3624)ccC>ccT	p.P1208P	ANO8_uc010eap.2_Non-coding_Transcript	NM_020959	NP_066010	Q9HCE9	ANO8_HUMAN	Homo sapiens anoctamin 8 (ANO8), mRNA.	1208	Pro-rich.					chloride channel complex	chloride channel activity			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						gggtctcgaggggatccgagg	0.736000														8			4		0	0	0.00024832	0	0
OR10A4	283297	broad.mit.edu	37	11	6898777	6898777	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:6898777C>T	uc010rat.2	+	0	922	c.899C>T	c.(898-900)gCt>gTt	p.A300V		NM_207186	NP_997069	Q9H209	O10A4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 4 (OR10A4), mRNA.	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GAAGTGAAGGCTGCACTGAAG	0.468000														66			10		0	0	0.00136819	0	0
PLG	5340	broad.mit.edu	37	6	161134046	161134046	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:161134046G>A	uc003qtm.4	+	4	548	c.436G>A	c.(436-438)Gga>Aga	p.G146R		NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	146	Kringle 1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CCCCTCAGAGGGACTGGAGGA	0.478000														38			8		0	0	0.000978159	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140209115	140209115	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:140209115G>A	uc003lho.2	+	0	1466	c.1439G>A	c.(1438-1440)cGa>cAa	p.R480Q	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Missense_Mutation_p.R480Q|PCDHAC2_uc011dab.2_Missense_Mutation_p.R480Q	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	494	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGTCTGCGCGAGACGCGGAC	0.647000														73			18		0	0	0.000958276	0	0
KIAA1841	84542	broad.mit.edu	37	2	61345224	61345224	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:61345224C>T	uc002saw.4	+	19	2304	c.2001C>T	c.(1999-2001)gaC>gaT	p.D667D	KIAA1841_uc002sax.4_Silent_p.D521D|KIAA1841_uc002say.3_Silent_p.D667D	NM_001129993	NP_001123465	Q6NSI8	K1841_HUMAN	Homo sapiens KIAA1841 (KIAA1841), transcript variant 1, mRNA.	667										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			GGGATCTGGACCGAGTCAAGT	0.358000														11			3		0	0	0.00024832	0	0
TMEM119	338773	broad.mit.edu	37	12	108985499	108985499	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:108985499C>T	uc001tng.3	-	1	824	c.661G>A	c.(661-663)Gga>Aga	p.G221R	TMEM119_uc021rdl.1_Missense_Mutation_p.G221R	NM_181724	NP_859075	Q4V9L6	TM119_HUMAN	Homo sapiens transmembrane protein 119 (TMEM119), mRNA.	221						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						ACCCCATGTCCCTGGACTTCC	0.697000														39			4		0	0	0.00024832	0	0
ACSM2B	348158	broad.mit.edu	37	16	20563565	20563565	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr16:20563565C>T	uc002dhj.4	-	6	1005	c.795G>A	c.(793-795)tgG>tgA	p.W265*	ACSM2B_uc002dhk.4_Nonsense_Mutation_p.W265*|ACSM2B_uc010bwf.1_Nonsense_Mutation_p.W265*	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	265					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding	p.G264V(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TGTTCAGTATCCAACCTGTGT	0.433000														75			17		0	0	0.00121646	0	0
N4BP2	55728	broad.mit.edu	37	4	40123874	40123874	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:40123874C>T	uc003guy.4	+	8	4481	c.4143C>T	c.(4141-4143)ccC>ccT	p.P1381P	N4BP2_uc010ifq.3_Silent_p.P1301P|N4BP2_uc010ifr.3_Silent_p.P1301P	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Homo sapiens NEDD4 binding protein 2 (N4BP2), mRNA.	1381						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						TGGCATTACCCCCTGAACTGG	0.418000														78			11		0	0	0.000978159	0	0
PRUNE2	158471	broad.mit.edu	37	9	79441574	79441574	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr9:79441574G>A	uc010mpk.3	-	4	707	c.583C>T	c.(583-585)Ctg>Ttg	p.L195L	PRUNE2_uc022bih.1_Silent_p.L17L|PRUNE2_uc004akn.3_Silent_p.L195L	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	195					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TTTTCTTCCAGGATAGAAAGA	0.443000														47			9		0	0	0.000274275	0	0
TMEM82	388595	broad.mit.edu	37	1	16073508	16073508	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:16073508C>T	uc001axc.3	+	4	1042	c.904C>T	c.(904-906)Ctc>Ttc	p.L302F		NM_001013641	NP_001013663	A0PJX8	TMM82_HUMAN	Homo sapiens transmembrane protein 82 (TMEM82), mRNA.	302	Leu-rich.					integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|lung(5)|prostate(1)|skin(1)	13		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCTCTGGTGTCTCGTGGGCGT	0.642000														39			12		0	0	0.00136819	0	0
TRAT1	50852	broad.mit.edu	37	3	108568021	108568021	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:108568021G>A	uc003dxi.1	+	4	367	c.223G>A	c.(223-225)Gat>Aat	p.D75N	TRAT1_uc010hpx.1_Missense_Mutation_p.D38N	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN	Homo sapiens T cell receptor associated transmembrane adaptor 1 (TRAT1), mRNA.	75					T cell receptor signaling pathway|cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of T cell receptor signaling pathway|positive regulation of calcium-mediated signaling	T cell receptor complex|integral to plasma membrane	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						AGAACCAATGGATGAAAATTG	0.338000														41			7		0	0	0.00198382	0	0
C7	730	broad.mit.edu	37	5	40947853	40947853	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:40947853C>T	uc003jmh.3	+	7	1002	c.888C>T	c.(886-888)atC>atT	p.I296I	C7_uc011cpn.1_Intron	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	296	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				GAAGATTAATCGACCAGTACG	0.408000														43			6		0	0	0.00116845	0	0
MYOCD	93649	broad.mit.edu	37	17	12655756	12655756	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:12655756G>A	uc002gno.2	+	9	1450	c.1151G>A	c.(1150-1152)cGa>cAa	p.R384Q	MYOCD_uc002gnn.2_Missense_Mutation_p.R384Q|MYOCD_uc002gnp.1_Missense_Mutation_p.R288Q|MYOCD_uc002gnq.2_Missense_Mutation_p.R103Q	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	384	SAP.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding	p.R384Q(3)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CAACAGCTTCGAATTCGGGGC	0.453000														41			10		0	0	0.000978159	0	0
GPR162	27239	broad.mit.edu	37	12	6943129	6943129	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:6943129C>T	uc001qra.1	+	9	1405	c.1371C>T	c.(1369-1371)tcC>tcT	p.S457S	GPR162_uc001qrb.1_Silent_p.S265S	NM_014262	NP_055077	Q16538	GP162_HUMAN	Homo sapiens leprecan-like 2 (LEPREL2), mRNA.	0						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						CCCAGGATTCCAGGCAGCTGA	0.617000														45			18		0	0	0.00229938	0	0
OR51E2	81285	broad.mit.edu	37	11	4703459	4703459	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:4703459C>T	uc001lzk.2	-	1	727	c.483G>A	c.(481-483)ctG>ctA	p.L161L	OR51E2_uc021qcr.1_Silent_p.L161L	NM_030774	NP_110401	Q9H255	O51E2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 2 (OR51E2), mRNA.	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		GCCGCTTGATCAGCAGAGGCA	0.537000														34			8		0	0	0.000274275	0	0
ARGFX	503582	broad.mit.edu	37	3	121304947	121304947	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:121304947C>T	uc003eef.3	+	4	543	c.448C>T	c.(448-450)Cca>Tca	p.P150S		NM_001012659	NP_001012677	A6NJG6	ARGFX_HUMAN	Homo sapiens arginine-fifty homeobox (ARGFX), mRNA.	150						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		CCAGATCCTTCCATCCAAGAA	0.512000														43			10		0	0	0.000442599	0	0
CENPO	79172	broad.mit.edu	37	2	25016811	25016811	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:25016811G>A	uc002rfq.2	+	1	150	c.23G>A	c.(22-24)cGt>cAt	p.R8H	CENPO_uc002rfp.2_Intron|PTRHD1_uc002rfm.3_5'Flank	NM_024322	NP_077298	Q9BU64	CENPO_HUMAN	Homo sapiens centromere protein O (CENPO), transcript variant 1, mRNA.	8					CenH3-containing nucleosome assembly at centromere|cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			breast(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					AACCCTTTACGTCCAGATGGC	0.557000														67			18		0	0	0.00152264	0	0
GALC	2581	broad.mit.edu	37	14	88450795	88450795	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr14:88450795G>A	uc001xvt.3	-	4	632	c.525C>T	c.(523-525)gtC>gtT	p.V175V	GALC_uc010tvy.2_Silent_p.V152V|GALC_uc010tvx.2_Silent_p.V149V|GALC_uc010tvz.1_Silent_p.V119V|GALC_uc001xvu.2_Silent_p.V175V	NM_000153	NP_000144	P54803	GALC_HUMAN	Homo sapiens galactosylceramidase (GALC), transcript variant 1, mRNA.	175					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCCAGGTCACGACATAATAGG	0.433000														36			7		0	0	0.000157383	0	0
AFF1	4299	broad.mit.edu	37	4	87968715	87968715	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:87968715C>T	uc011ccz.2	+	3	1303	c.1028C>T	c.(1027-1029)aCc>aTc	p.T343I	AFF1_uc011ccx.2_Missense_Mutation_p.T277I|AFF1_uc003hqh.2_Missense_Mutation_p.T343I|AFF1_uc011ccy.2_Missense_Mutation_p.T343I|AFF1_uc003hqj.4_Missense_Mutation_p.T336I|AFF1_uc003hqk.4_Missense_Mutation_p.T336I|AFF1_uc011cda.2_Intron	NM_001166693	NP_001160165	P51825	AFF1_HUMAN	Homo sapiens AF4/FMR2 family, member 1 (AFF1), transcript variant 1, mRNA.	336						nucleus	sequence-specific DNA binding transcription factor activity	p.S342Y(1)		breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		GCCAAGCTCACCAAACTGAAG	0.473000														94			11		0	0	0.00136819	0	0
CC2D1A	54862	broad.mit.edu	37	19	14031571	14031571	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:14031571C>T	uc002mxo.2	+	13	1776	c.1477C>T	c.(1477-1479)Cag>Tag	p.Q493*	CC2D1A_uc002mxp.2_Nonsense_Mutation_p.Q493*|CC2D1A_uc010dzh.2_Nonsense_Mutation_p.Q62*|CC2D1A_uc002mxq.1_Nonsense_Mutation_p.Q138*	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	Homo sapiens coiled-coil and C2 domain containing 1A (CC2D1A), mRNA.	493					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			AGCCCAGCAGCAGCTGGCCTT	0.647000														11			7		0	0	0.00198382	0	0
DEFB119	245932	broad.mit.edu	37	20	29965099	29965099	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr20:29965099C>T	uc002wvt.3	-	1	325	c.205G>A	c.(205-207)Gag>Aag	p.E69K	DEFB119_uc002wvs.3_3'UTR	NM_153289	NP_695021	Q8N690	DB119_HUMAN	Homo sapiens defensin, beta 119 (DEFB119), transcript variant 1, mRNA.	69					defense response to bacterium	extracellular region				large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GTATTTTCCTCTTTGCCAGAA	0.488000														67			29		0	0	0.00209593	0	0
TTC7B	145567	broad.mit.edu	37	14	91124698	91124698	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr14:91124698C>T	uc001xyp.3	-	9	1308	c.1186G>A	c.(1186-1188)Gaa>Aaa	p.E396K	TTC7B_uc010ats.3_Non-coding_Transcript	NM_001010854	NP_001010854	Q86TV6	TTC7B_HUMAN	Homo sapiens tetratricopeptide repeat domain 7B (TTC7B), mRNA.	396							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)				AGGTGGAATTCCTCAAAGGCA	0.463000														82			21		0	0	0.00229938	0	0
CDH23	64072	broad.mit.edu	37	10	73562739	73562739	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:73562739C>T	uc001jrx.4	+	51	7948	c.7558C>T	c.(7558-7560)Ccg>Tcg	p.P2520S	CDH23_uc001jsg.4_Missense_Mutation_p.P283S|CDH23_uc001jsh.4_Missense_Mutation_p.P283S|CDH23_uc001jsi.4_Missense_Mutation_p.P283S	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	2523	Cadherin 24.				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	p.F2519L(1)		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						TGAGAATGAGCCGGCGGGCAC	0.577000														29			5		0	0	0.000602214	0	0
EMILIN1	11117	broad.mit.edu	37	2	27306388	27306388	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:27306388T>G	uc002rii.4	+	3	2448	c.1949T>G	c.(1948-1950)gTt>gGt	p.V650G	EMILIN1_uc002rik.4_5'Flank	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN	Homo sapiens elastin microfibril interfacer 1 (EMILIN1), mRNA.	650					cell adhesion	collagen				breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCTCTGAGGTTATTCTCAGC	0.632000														40			9		0	0	0.000274275	0	0
C14orf101	54916	broad.mit.edu	37	14	57114104	57114104	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr14:57114104C>T	uc001xcm.3	+	15	2135	c.2013C>T	c.(2011-2013)ttC>ttT	p.F671F	C14orf101_uc001xcj.3_Non-coding_Transcript|C14orf101_uc001xcn.3_Non-coding_Transcript|C14orf101_uc010trf.2_Silent_p.F204F|C14orf101_uc001xco.3_Silent_p.F204F	NM_017799	NP_060269	Q9NX78	CN101_HUMAN	Homo sapiens chromosome 14 open reading frame 101 (C14orf101), mRNA.	671						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(311;0.226)		TCAGACATTTCCGTCTGTACT	0.463000														49			8		0	0	0.000157383	0	0
ZNF619	285267	broad.mit.edu	37	3	40528402	40528403	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:40528402_40528403CC>TT	uc011azb.2	+	5	828_829	c.521_522CC>TT	c.(520-522)ccc>cTT	p.P174L	ZNF619_uc011aza.2_Missense_Mutation_p.P76L|ZNF619_uc011azc.2_Missense_Mutation_p.P134L|ZNF619_uc011azd.2_Missense_Mutation_p.P90L|ZNF619_uc003ckj.3_Missense_Mutation_p.P118L|ZNF619_uc021wwh.1_Missense_Mutation_p.P125L	NM_001145082	NP_001138554	E9PCD9	E9PCD9_HUMAN	Homo sapiens zinc finger protein 619 (ZNF619), transcript variant 1, mRNA.	174					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		ATGGACGTTCCCCAGCACCCTG	0.446000														32			8		0	0	6.4e-05	0	0
GJA9	81025	broad.mit.edu	37	1	39341319	39341319	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:39341319C>T	uc021olr.1	-	0	452	c.452G>A	c.(451-453)gGa>gAa	p.G151E	RRAGC_uc001ccr.2_5'Flank|MYCBP_uc001ccs.3_5'Flank|MYCBP_uc021olq.1_Intron	NM_030772	NP_110399	P57773	CXA9_HUMAN	Homo sapiens gap junction protein, alpha 9, 59kDa (GJA9), mRNA.	151					cell communication	connexon complex|integral to membrane				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			AAGCAAGGTTCCTCTGAGTGG	0.428000														101			34		0	0	0.0024448	0	0
CLCN1	1180	broad.mit.edu	37	7	143027919	143027919	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:143027919G>A	uc003wcr.1	+	7	995	c.908G>A	c.(907-909)tGg>tAg	p.W303*	CLCN1_uc011ktc.1_5'UTR|CLCN1_uc003wcs.1_Non-coding_Transcript|CLCN1_uc010lox.1_Non-coding_Transcript|CLCN1_uc010loy.1_Missense_Mutation_p.G99R	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	303					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CGGAACTACTGGAGAGGATTC	0.552000														49			7		0	0	0.000157383	0	0
RGPD4	285190	broad.mit.edu	37	2	108488584	108488584	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:108488584A>T	uc010ywk.2	+	19	4206	c.4124A>T	c.(4123-4125)aAa>aTa	p.K1375I	RGPD4_uc002tdu.3_Missense_Mutation_p.K562I|RGPD4_uc010ywl.2_Intron	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	1375	RanBD1 2.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GGTCAATGGAAAGAAAGGGGC	0.353000														104			26		0	0	0.00283554	0	0
AOX1	316	broad.mit.edu	37	2	201469527	201469527	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:201469527C>T	uc002uvx.3	+	8	879	c.778C>T	c.(778-780)Ccc>Tcc	p.P260S		NM_001159	NP_001150	Q06278	ADO_HUMAN	Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	260	FAD-binding PCMH-type.				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|NAD binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion 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)	ATTCAAGTATCCCCAGGCTCC	0.488000														21			6		0	0	0.00198382	0	0
TNR	7143	broad.mit.edu	37	1	175375497	175375497	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:175375497G>A	uc001gkp.1	-	0	435	c.354C>T	c.(352-354)atC>atT	p.I118I	TNR_uc009wwu.1_Silent_p.I118I|TNR_uc010pmz.1_Silent_p.I118I	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	118					axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.R117R(1)		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)					TGGGGAAGTTGATCCTGTGTG	0.592000														54			17		0	0	0.000958276	0	0
EXOC3L2	90332	broad.mit.edu	37	19	45731010	45731010	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:45731010C>T	uc002pay.1	-	4	355	c.314G>A	c.(313-315)cGa>cAa	p.R105Q		NM_138568	NP_612635	Q2M3D2	EX3L2_HUMAN	Homo sapiens exocyst complex component 3-like 2 (EXOC3L2), mRNA.	105										endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		CTCATGGAATCGCTCCACACG	0.622000														25			9		0	0	0.00136819	0	0
LRRC43	254050	broad.mit.edu	37	12	122684825	122684825	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:122684825C>T	uc009zxm.3	+	7	1464	c.1439C>T	c.(1438-1440)cCa>cTa	p.P480L	LRRC43_uc001ubw.4_Missense_Mutation_p.P295L|LRRC43_uc009zxn.3_Missense_Mutation_p.P241L	NM_001098519	NP_689972	Q8N309	LRC43_HUMAN	Homo sapiens leucine rich repeat containing 43 (LRRC43), transcript variant 1, mRNA.	480										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		GACCTGGTCCCACTGAAGGCC	0.642000														52			10		0	0	0.000978159	0	0
NID2	22795	broad.mit.edu	37	14	52472502	52472502	+	Missense_Mutation	SNP	C	T	T	rs149021065		TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr14:52472502C>T	uc001wzo.3	-	20	4304	c.4070G>A	c.(4069-4071)cGa>cAa	p.R1357Q	NID2_uc010tqs.2_Missense_Mutation_p.R1309Q|NID2_uc010tqt.1_Missense_Mutation_p.R1357Q	NM_007361	NP_031387	Q14112	NID2_HUMAN	Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA.	1357						basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GAGGTGAGATCGTTGTTCTGG	0.438000														39			7		0	0	0.000442599	0	0
FAM170A	340069	broad.mit.edu	37	5	118969896	118969896	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:118969896C>T	uc003ksm.2	+	2	663	c.453C>T	c.(451-453)tcC>tcT	p.S151S	FAM170A_uc003ksl.2_Silent_p.S151S|FAM170A_uc003ksn.3_Silent_p.S151S|FAM170A_uc003kso.3_Silent_p.S104S	NM_182761	NP_877438	A1A519	F170A_HUMAN	Homo sapiens family with sequence similarity 170, member A (FAM170A), transcript variant 1, mRNA.	151						intracellular	zinc ion binding	p.E150K(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						CTTTGGAGTCCTTAGAAAAGC	0.478000														58			15		0	0	0.00074312	0	0
GIMAP8	155038	broad.mit.edu	37	7	150164382	150164382	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:150164382C>T	uc003whj.3	+	1	926	c.596C>T	c.(595-597)cCc>cTc	p.P199L		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	199						Golgi apparatus|endoplasmic reticulum|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)		AACGGAGGACCCTATCATGTG	0.413000														40			18		0	0	0.00152264	0	0
ZNF385D	79750	broad.mit.edu	37	3	21467107	21467107	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:21467107G>A	uc003cce.3	-	5	1137	c.729C>T	c.(727-729)gcC>gcT	p.A243A		NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	Homo sapiens zinc finger protein 385D (ZNF385D), mRNA.	243						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						CCCTAGGAAAGGCTTTGATAG	0.433000														31			5		0	0	0.00198382	0	0
ITIH1	3697	broad.mit.edu	37	3	52816017	52816017	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:52816017C>T	uc003dfs.3	+	6	779	c.749C>T	c.(748-750)tCc>tTc	p.S250F	ITIH1_uc010hmn.2_Non-coding_Transcript|ITIH1_uc021wzf.1_Missense_Mutation_p.S108F|ITIH1_uc021wzg.1_5'UTR|ITIH1_uc021wzh.1_5'UTR|ITIH1_uc003dft.3_5'Flank	NM_002215	NP_002206	P19827	ITIH1_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 1 (ITIH1), transcript variant 1, mRNA.	250					hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		TGCTCTACATCCTTACTGAAC	0.572000														34			16		0	0	0.000422831	0	0
TDRD1	56165	broad.mit.edu	37	10	115978251	115978251	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:115978251G>A	uc001lbg.1	+	17	2555	c.2402G>A	c.(2401-2403)gGa>gAa	p.G801E	TDRD1_uc001lbf.3_Intron|TDRD1_uc001lbh.1_Missense_Mutation_p.G792E|TDRD1_uc001lbi.1_Missense_Mutation_p.G792E|TDRD1_uc010qsc.2_Missense_Mutation_p.G405E|TDRD1_uc001lbj.3_Missense_Mutation_p.G510E	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	Homo sapiens tudor domain containing 1 (TDRD1), mRNA.	801	Tudor 3.				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		GTGGATTATGGAAACATCGAA	0.383000														55			5		0	0	0.000602214	0	0
VPS26A	9559	broad.mit.edu	37	10	70916813	70916813	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:70916813G>A	uc001jpb.3	+	3	406	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K	VPS26A_uc001jpc.3_Missense_Mutation_p.E94K|VPS26A_uc009xqa.3_Missense_Mutation_p.E87K|VPS26A_uc001jpd.3_5'UTR	NM_004896	NP_004887	O75436	VP26A_HUMAN	Homo sapiens vacuolar protein sorting 26 homolog A (S. pombe) (VPS26A), transcript variant 1, mRNA.	94					retrograde transport, endosome to Golgi|vacuolar transport	cytosol|endosome membrane|retromer complex|vesicle	protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)	8						CCTAGTGAAAGAACTAGCCTT	0.338000														43			7		0	0	0.000157383	0	0
KIF14	9928	broad.mit.edu	37	1	200586866	200586866	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:200586866G>A	uc010ppk.1	-	1	1425	c.986C>T	c.(985-987)tCc>tTc	p.S329F	KIF14_uc010ppj.1_5'UTR	NM_014875	NP_055690	Q15058	KIF14_HUMAN	Homo sapiens kinesin family member 14 (KIF14), mRNA.	329	Required for PRC1-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						ATTTTCTGCGGATCTTTCCTG	0.388000														48			22		0	0	0.00188189	0	0
CGNL1	84952	broad.mit.edu	37	15	57731321	57731321	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr15:57731321G>A	uc010bfw.3	+	2	1317	c.1124G>A	c.(1123-1125)cGa>cAa	p.R375Q	CGNL1_uc002aeg.3_Missense_Mutation_p.R375Q	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	375	Head.					myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		TCTGGGAAGCGAAACAGAATT	0.438000														46			28		0	0	0.00106085	0	0
GLYATL2	219970	broad.mit.edu	37	11	58601914	58601914	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:58601914C>T	uc001nnd.4	-	5	1004	c.873G>A	c.(871-873)aaG>aaA	p.K291K	GLYATL2_uc009ymq.3_Silent_p.K291K	NM_145016	NP_659453	Q8WU03	GLYL2_HUMAN	Homo sapiens glycine-N-acyltransferase-like 2 (GLYATL2), mRNA.	291						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	AACAATATTTCTTGGGGGTGC	0.363000														28			7		0	0	0.00198382	0	0
BBS12	166379	broad.mit.edu	37	4	123663309	123663309	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:123663309C>T	uc021xrm.1	+	2	643	c.262C>T	c.(262-264)Ctt>Ttt	p.L88F	BBS12_uc003ieu.3_Missense_Mutation_p.L88F|BBS12_uc021xrn.1_Missense_Mutation_p.L88F	NM_001178007	NP_689831	Q6ZW61	BBS12_HUMAN	Homo sapiens Bardet-Biedl syndrome 12 (BBS12), transcript variant 1, mRNA.	88					cellular protein metabolic process	cilium	ATP binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						AATCAGTACTCTTTTGTTTCT	0.393000									Bardet-Biedl syndrome					61			15		0	0	0.000566183	0	0
SLIT2	9353	broad.mit.edu	37	4	20521064	20521064	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:20521064C>T	uc003gpr.1	+	11	1322	c.1118C>T	c.(1117-1119)tCc>tTc	p.S373F	SLIT2_uc003gps.1_Missense_Mutation_p.S373F	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	373					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GGACTGTTTTCCTTACAGCTC	0.313000														54			9		0	0	0.000673444	0	0
HSPA2	3306	broad.mit.edu	37	14	65008275	65008275	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr14:65008275C>T	uc001xhj.3	+	1	784	c.708C>T	c.(706-708)ttC>ttT	p.F236F	HSPA2_uc001xhk.4_Silent_p.F236F	NM_021979	NP_068814	P54652	HSP72_HUMAN	Homo sapiens heat shock 70kDa protein 2 (HSPA2), mRNA.	236					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		GTGAGGACTTCGACAACCGCA	0.637000														66			8		0	0	0.000274275	0	0
HAL	3034	broad.mit.edu	37	12	96389549	96389549	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:96389549G>A	uc001tem.1	-	1	437	c.140C>T	c.(139-141)tCc>tTc	p.S47F	HAL_uc010sux.1_Missense_Mutation_p.S47F|HAL_uc009zti.1_Non-coding_Transcript|HAL_uc010suw.1_5'UTR	NM_002108	NP_002099	P42357	HUTH_HUMAN	Homo sapiens histidine ammonia-lyase (HAL), mRNA.	47					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	GTCATCCACGGAGGTGAAGCC	0.647000														23			4		0	0	0.00024832	0	0
RGPD4	285190	broad.mit.edu	37	2	108496444	108496444	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:108496444G>A	uc010ywk.2	+	20	5027	c.4945G>A	c.(4945-4947)Gaa>Aaa	p.E1649K	RGPD4_uc002tdu.3_Missense_Mutation_p.E836K|RGPD4_uc010ywl.2_Non-coding_Transcript	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	1649					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						ATGGCATGCTGAATTTACCAA	0.378000														43			7		0	0	0.000566183	0	0
CCDC81	60494	broad.mit.edu	37	11	86120405	86120405	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:86120405T>C	uc001pbx.2	+	9	1644	c.1216T>C	c.(1216-1218)Tat>Cat	p.Y406H	CCDC81_uc001pbw.2_Missense_Mutation_p.Y316H|CCDC81_uc010rtq.2_Missense_Mutation_p.Y189H|CCDC81_uc001pby.2_Missense_Mutation_p.Y141H	NM_001156474	NP_001149946	Q6ZN84	CCD81_HUMAN	Homo sapiens coiled-coil domain containing 81 (CCDC81), transcript variant 1, mRNA.	406										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				ACCGGAATTTTATGTAAGTCT	0.383000														41			8		0	0	0.000157383	0	0
CRISPLD2	83716	broad.mit.edu	37	16	84906696	84906696	+	Silent	SNP	G	A	A	rs143175101		TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr16:84906696G>A	uc010voh.1	+	9	1307	c.1080G>A	c.(1078-1080)gtG>gtA	p.V360V	CRISPLD2_uc010vog.1_Intron|CRISPLD2_uc002fim.2_Silent_p.V360V|CRISPLD2_uc002fin.4_Silent_p.V360V	NM_031476	NP_113664	Q9H0B8	CRLD2_HUMAN	Homo sapiens cysteine-rich secretory protein LCCL domain containing 2 (CRISPLD2), mRNA.	360	LCCL 1.					extracellular region|transport vesicle				endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						CCTTCTTCGTGAAGTCTGAGA	0.537000														54			7		0	0	0.000157383	0	0
PHACTR3	116154	broad.mit.edu	37	20	58342270	58342270	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr20:58342270G>A	uc002yau.3	+	4	1038	c.571G>A	c.(571-573)Gaa>Aaa	p.E191K	PHACTR3_uc002yat.3_Missense_Mutation_p.E188K|PHACTR3_uc010zzw.2_Missense_Mutation_p.E150K|PHACTR3_uc002yav.3_Missense_Mutation_p.E150K|PHACTR3_uc002yaw.3_Missense_Mutation_p.E150K|PHACTR3_uc002yax.3_Intron	NM_080672	NP_899067	Q96KR7	PHAR3_HUMAN	Homo sapiens phosphatase and actin regulator 3 (PHACTR3), transcript variant 1, mRNA.	191						nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			CAGTGGTGAAGAAGCAGACGC	0.542000														34			5		0	0	0.00116845	0	0
SLITRK3	22865	broad.mit.edu	37	3	164908584	164908584	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:164908584C>T	uc003fej.4	-	1	479	c.35G>A	c.(34-36)gGa>gAa	p.G12E	SLITRK3_uc003fek.3_Missense_Mutation_p.G12E|SLITRK3_uc021xgy.1_Missense_Mutation_p.G12E	NM_014926	NP_055741	O94933	SLIK3_HUMAN	Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.	12						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						CAACATCCTTCCTCTGTGAAG	0.398000										HNSCC(40;0.11)				33			8		0	0	0.000157383	0	0
NAALAD2	10003	broad.mit.edu	37	11	89896572	89896572	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:89896572G>A	uc001pdf.4	+	9	1279	c.1170G>A	c.(1168-1170)cgG>cgA	p.R390R	NAALAD2_uc009yvx.3_Silent_p.R357R|NAALAD2_uc009yvy.3_Intron|NAALAD2_uc001pde.3_Silent_p.R297R	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase 2 (NAALAD2), mRNA.	390	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	p.R390R(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				AAATTGCCCGGAGTTTTGGAA	0.413000														95			19		0	0	0.00229938	0	0
MYH1	4619	broad.mit.edu	37	17	10404624	10404624	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:10404624C>T	uc002gmo.3	-	26	3635	c.3541G>A	c.(3541-3543)Gac>Aac	p.D1181N	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1181						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCCTCCAGGTCCCTGCGCATT	0.597000														69			10		0	0	0.000442599	0	0
ADAM30	11085	broad.mit.edu	37	1	120437782	120437783	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:120437782_120437783GG>TT	uc001eij.3	-	0	1365_1366	c.1177_1178CC>AA	c.(1177-1179)cca>AAa	p.P393K		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	393	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		ACCTAGTCCTGGGATATTATTT	0.411000														510			14		0	0	6.4e-05	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125831648	125831648	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:125831648G>A	uc003eim.1	-	18	2348	c.2158C>T	c.(2158-2160)Cat>Tat	p.H720Y	ALDH1L1_uc010hse.1_Non-coding_Transcript|ALDH1L1_uc011bki.1_Missense_Mutation_p.H619Y|ALDH1L1_uc003ein.1_Missense_Mutation_p.H255Y	NM_012190	NP_036322	O75891	AL1L1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L1 (ALDH1L1), mRNA.	720	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	AACTCATCATGAATGGAGTCC	0.562000														43			5		0	0	0.00198382	0	0
HCRTR2	3062	broad.mit.edu	37	6	55147023	55147023	+	Splice_Site	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:55147023G>A	uc003pcl.3	+	7	1421	c.1106_splice	c.e7-1	p.G369_splice	HCRTR2_uc010jzv.3_Splice_Site	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	369					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TGTTTGCCAGGAAAATTTCGA	0.438000														19			4		0	0	0.00024832	0	0
GFRAL	389400	broad.mit.edu	37	6	55216067	55216067	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:55216067G>A	uc003pcm.1	+	4	473	c.387G>A	c.(385-387)tgG>tgA	p.W129*		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.	129						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AAGGGATGTGGTCCTGTTTGG	0.443000														67			8		0	0	0.000978159	0	0
PRKACA	5566	broad.mit.edu	37	19	14213634	14213635	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:14213634_14213635GG>AA	uc002myc.3	-	3	529_530	c.329_330CC>TT	c.(328-330)tcc>tTT	p.S110F	PRKACA_uc002myb.3_Missense_Mutation_p.S102F|PRKACA_uc010xnm.1_Missense_Mutation_p.S52F|PRKACA_uc002myd.3_Missense_Mutation_p.S52F	NM_002730	NP_002721	P17612	KAPCA_HUMAN	Homo sapiens protein kinase, cAMP-dependent, catalytic, alpha (PRKACA), transcript variant 1, mRNA.	110	Protein kinase.				G2/M transition of mitotic cell cycle|activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						CCACCTTGAAGGAGAACTCGAG	0.584000														52			7		0	0	6.4e-05	0	0
FAM209B	388799	broad.mit.edu	37	20	55111330	55111330	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr20:55111330G>A	uc010zzh.2	+	1	432	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K	FAM209B_uc002xxz.3_Missense_Mutation_p.E118K	NM_001013646	NP_001013668	Q5JX69	CT107_HUMAN	Homo sapiens family with sequence similarity 209, member B (FAM209B), mRNA.	118						integral to membrane											TACCTTAAACGAACTTGAAGT	0.443000														64			19		0	0	0.000958276	0	0
CDO1	1036	broad.mit.edu	37	5	115151983	115151983	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:115151983C>T	uc003krg.3	-	0	423	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K		NM_001801	NP_001792	Q16878	CDO1_HUMAN	Homo sapiens cysteine dioxygenase, type I (CDO1), mRNA.	38					inflammatory response|sulfur amino acid biosynthetic process|taurine biosynthetic process	cytosol	cysteine dioxygenase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|skin(5)	11		all_cancers(142;0.0046)|all_epithelial(76;0.000161)|Prostate(80;0.0132)|Ovarian(225;0.0776)		OV - Ovarian serous cystadenocarcinoma(64;7.8e-08)|Epithelial(69;7.32e-07)|all cancers(49;3.24e-05)	L-Cysteine(DB00151)|NADH(DB00157)	TCGTAGGCTTCCATGATGGCC	0.617000														75			16		0	0	0.000566183	0	0
SOX5	6660	broad.mit.edu	37	12	23699249	23699250	+	Splice_Site	DNP	CC	TT	TT			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:23699249_23699250CC>TT	uc001rfw.3	-	12	1699	c.1597_splice	c.e12+1	p.G533_splice	SOX5_uc001rfx.3_Splice_Site_p.G520_splice|SOX5_uc001rfy.3_Splice_Site_p.G412_splice|SOX5_uc001rfv.3_Splice_Site_p.G147_splice|SOX5_uc010siv.2_Splice_Site_p.G520_splice|SOX5_uc010siw.1_Intron|SOX5_uc001rfz.1_Splice_Site_p.G485_splice	NM_006940	NP_694534	P35711	SOX5_HUMAN	Homo sapiens SRY (sex determining region Y)-box 5 (SOX5), transcript variant 1, mRNA.	533					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						TTTTCACAAACCATCAGAATCT	0.371000														56			6		0	0	6.4e-05	0	0
ZNF516	9658	broad.mit.edu	37	18	74091449	74091449	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr18:74091449G>A	uc021ulp.1	-	3	2939	c.2621C>T	c.(2620-2622)cCc>cTc	p.P874L	ZNF516_uc002lmd.3_Non-coding_Transcript	NM_014643	NP_055458	Q92618	ZN516_HUMAN	Homo sapiens zinc finger protein 516 (ZNF516), mRNA.	874					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CAGAGCGCAGGGACCTCCGGA	0.647000														93			20		0	0	0.00229938	0	0
CYP3A43	64816	broad.mit.edu	37	7	99445222	99445222	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:99445222G>A	uc003ury.1	+	4	533	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	CYP3A43_uc003urx.1_Missense_Mutation_p.E144K|CYP3A43_uc003urz.1_Missense_Mutation_p.E144K|CYP3A43_uc003usa.1_Non-coding_Transcript|CYP3A43_uc010lgi.1_Intron|CYP3A43_uc003usb.1_5'UTR	NM_022820	NP_073731	Q9HB55	CP343_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 43 (CYP3A43), transcript variant 1, mRNA.	144			Missing (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			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)	AAAATTCAAGGAAGTAAGAAA	0.348000														86			46		0	0	0.000781405	0	0
WHSC1	7468	broad.mit.edu	37	4	1902413	1902413	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:1902413C>T	uc003gdz.4	+	1	208	c.32C>T	c.(31-33)tCt>tTt	p.S11F	WHSC1_uc003geb.4_Missense_Mutation_p.S11F|WHSC1_uc003gec.4_Missense_Mutation_p.S11F|WHSC1_uc003ged.4_Missense_Mutation_p.S11F|WHSC1_uc003gee.4_Non-coding_Transcript|WHSC1_uc003gef.4_Non-coding_Transcript|WHSC1_uc003gdx.3_Missense_Mutation_p.S11F|WHSC1_uc003gdy.1_Missense_Mutation_p.S11F|WHSC1_uc010icd.1_Missense_Mutation_p.S11F|WHSC1_uc003gea.1_Missense_Mutation_p.S11F|WHSC1_uc010ice.1_Missense_Mutation_p.S11F|WHSC1_uc003geg.1_Missense_Mutation_p.S11F|WHSC1_uc003geh.1_Missense_Mutation_p.S11F	NM_001042424	NP_579890	O96028	NSD2_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 1 (WHSC1), transcript variant 10, mRNA.	11					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		AGTCCCCTTTCTGTTCAGAGT	0.448000			T	IGH@	MM									82			18		0	0	0.00074312	0	0
ATP7B	540	broad.mit.edu	37	13	52508944	52508944	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr13:52508944C>T	uc001vfw.2	-	20	4503	c.4346G>A	c.(4345-4347)gGg>gAg	p.G1449E	ATP7B_uc001vfy.2_Missense_Mutation_p.G1338E|ATP7B_uc010adv.2_Missense_Mutation_p.G1019E|ATP7B_uc001vfx.2_Missense_Mutation_p.G1242E|ATP7B_uc010tgt.1_Missense_Mutation_p.G1384E|ATP7B_uc010tgu.1_Missense_Mutation_p.G1401E|ATP7B_uc010tgv.1_Missense_Mutation_p.G1371E|ATP7B_uc001vfv.2_Missense_Mutation_p.G721E|ATP7B_uc010tgs.1_Missense_Mutation_p.G660E	NM_000053	NP_000044	P35670	ATP7B_HUMAN	Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA.	1449					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		CCACTTGTCCCCATCATCGTC	0.617000									Wilson disease					38			7		0	0	0.00198382	0	0
VTN	7448	broad.mit.edu	37	17	26696681	26696681	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:26696681C>T	uc002hbc.3	-	2	525	c.376G>A	c.(376-378)Gag>Aag	p.E126K	TMEM199_uc010wah.1_Intron|SARM1_uc010waj.1_Intron|SARM1_uc010crl.1_5'Flank	NM_000638	NP_000629	P04004	VTNC_HUMAN	Homo sapiens vitronectin (VTN), mRNA.	126					cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Urokinase(DB00013)	GCGCCCACCTCAGGCGCAGGG	0.632000														18			7		0	0	0.00198382	0	0
TTN	7273	broad.mit.edu	37	2	179647604	179647604	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:179647604C>T	uc021vsy.1	-	17	3254	c.3029G>A	c.(3028-3030)aGc>aAc	p.S1010N	TTN_uc021vsz.1_Missense_Mutation_p.S964N|TTN_uc021vta.1_Missense_Mutation_p.S964N|TTN_uc021vtb.1_Missense_Mutation_p.S964N|TTN_uc002unb.2_Missense_Mutation_p.S1010N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1010	Ig-like 3.						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)			AAATCGCCCGCTGTCTTCCGC	0.498000														19			8		0	0	0.000274275	0	0
RNF17	56163	broad.mit.edu	37	13	25370427	25370427	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr13:25370427G>A	uc001upr.3	+	10	1434	c.1393G>A	c.(1393-1395)Gaa>Aaa	p.E465K	RNF17_uc010tdd.1_Missense_Mutation_p.E324K|RNF17_uc010tde.2_Missense_Mutation_p.E465K|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.E404K|RNF17_uc001upq.1_3'UTR	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	465					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		AGACATTTTGGAACTAGGTAA	0.303000														50			7		0	0	0.00198382	0	0
MAGEC3	139081	broad.mit.edu	37	X	140969271	140969271	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chrX:140969271C>T	uc011mwp.2	+	3	598	c.598C>T	c.(598-600)Caa>Taa	p.Q200*		NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.	200	MAGE 1.									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)					CCTCAAATATCAAGCAAAAGA	0.458000														43			22		0	0	0.00106085	0	0
KDM4C	23081	broad.mit.edu	37	9	6888029	6888029	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr9:6888029C>T	uc003zkh.3	+	6	1329	c.749C>T	c.(748-750)tCa>tTa	p.S250L	KDM4C_uc010mhu.2_Missense_Mutation_p.S272L|KDM4C_uc010mhw.3_Missense_Mutation_p.S250L|KDM4C_uc011lmi.1_Missense_Mutation_p.S250L|KDM4C_uc011lmj.1_Non-coding_Transcript|KDM4C_uc003zkg.3_Missense_Mutation_p.S250L|KDM4C_uc011lmk.2_Missense_Mutation_p.S69L	NM_015061	NP_055876	Q9H3R0	KDM4C_HUMAN	Homo sapiens lysine (K)-specific demethylase 4C (KDM4C), transcript variant 1, mRNA.	250	JmjC.				positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						ATTTCTCCATCAGTATTGAAG	0.338000														54			9		0	0	0.000978159	0	0
OR2G6	391211	broad.mit.edu	37	1	248685258	248685258	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:248685258C>T	uc001ien.1	+	0	311	c.311C>T	c.(310-312)gCc>gTc	p.A104V		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 6 (OR2G6), mRNA.	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V103L(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTCTATGTGGCCATGGGGTTG	0.532000														51			22		0	0	0.00047179	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48808326	48808326	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:48808326C>T	uc002rwp.2	+	1	668	c.554C>T	c.(553-555)cCa>cTa	p.P185L	STON1-GTF2A1L_uc021vhf.1_Missense_Mutation_p.P185L|STON1-GTF2A1L_uc002rwo.4_Missense_Mutation_p.P185L|STON1-GTF2A1L_uc010fbm.3_Missense_Mutation_p.P185L|STON1-GTF2A1L_uc010yol.2_Missense_Mutation_p.P185L	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	185					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)			TTTTCAAGTCCATTTTGGAAA	0.433000														31			9		0	0	0.000274275	0	0
SGMS1	259230	broad.mit.edu	37	10	52067882	52067882	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:52067882G>A	uc001jje.3	-	9	1876	c.922C>T	c.(922-924)Cac>Tac	p.H308Y	SGMS1_uc010qhk.2_Missense_Mutation_p.H139Y	NM_147156	NP_671512	Q86VZ5	SMS1_HUMAN	Homo sapiens sphingomyelin synthase 1 (SGMS1), mRNA.	314					apoptosis|cell growth|sphingomyelin biosynthetic process	Golgi trans cisterna|endoplasmic reticulum|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						CAAATCCAGTGATACCACCAG	0.473000														27			6		0	0	0.00116845	0	0
USP28	57646	broad.mit.edu	37	11	113672311	113672311	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:113672311G>A	uc001poh.3	-	23	2985	c.2952C>T	c.(2950-2952)atC>atT	p.I984I	USP28_uc001pog.3_Silent_p.I660I|USP28_uc010rwy.2_Silent_p.I827I|USP28_uc001poi.3_Silent_p.I307I	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	Homo sapiens ubiquitin specific peptidase 28 (USP28), mRNA.	984					DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|cell proliferation|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		GAATGCAGGGGATGATCAGTT	0.403000														32			12		0	0	0.00136819	0	0
NRXN3	9369	broad.mit.edu	37	14	79175787	79175787	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr14:79175787G>A	uc001xun.3	+	3	821	c.330G>A	c.(328-330)ctG>ctA	p.L110L	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Silent_p.L244L	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	0	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CCAATGGCCTGATCCTCTTCA	0.517000														35			12		0	0	0.00244969	0	0
MORC1	27136	broad.mit.edu	37	3	108773644	108773644	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:108773644G>A	uc003dxl.3	-	13	1348	c.1261C>T	c.(1261-1263)Caa>Taa	p.Q421*	MORC1_uc011bhn.2_Nonsense_Mutation_p.Q421*	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	421					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						TTATACTCTTGGACATTGAGA	0.408000														60			5		0	0	0.00116845	0	0
OR9A4	130075	broad.mit.edu	37	7	141618714	141618714	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:141618714C>T	uc003vwu.1	+	0	39	c.39C>T	c.(37-39)ctC>ctT	p.L13L		NM_001001656	NP_001001656	Q8NGU2	OR9A4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 4 (OR9A4), mRNA.	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					AATTTTATCTCCTTGGCTTCC	0.378000														122			54		0	0	0.000781405	0	0
GLYATL2	219970	broad.mit.edu	37	11	58602030	58602030	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:58602030C>T	uc001nnd.4	-	5	888	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K	GLYATL2_uc009ymq.3_Missense_Mutation_p.E253K	NM_145016	NP_659453	Q8WU03	GLYL2_HUMAN	Homo sapiens glycine-N-acyltransferase-like 2 (GLYATL2), mRNA.	253						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	AATGGGATTTCTTTCTGAGAA	0.398000														53			7		0	0	0.000274275	0	0
LOXL4	84171	broad.mit.edu	37	10	100020801	100020801	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:100020801C>T	uc001kpa.1	-	3	691	c.540G>A	c.(538-540)gaG>gaA	p.E180E		NM_032211	NP_115587	Q96JB6	LOXL4_HUMAN	Homo sapiens lysyl oxidase-like 4 (LOXL4), mRNA.	180	SRCR 2.					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		CATACTTCACCTCCACGGCTC	0.667000														28			6		0	0	0.000157383	0	0
SFRP2	6423	broad.mit.edu	37	4	154702830	154702830	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:154702830T>C	uc003inv.1	-	2	902	c.661A>G	c.(661-663)Att>Gtt	p.I221V		NM_003013	NP_003004	Q96HF1	SFRP2_HUMAN	Homo sapiens secreted frizzled-related protein 2 (SFRP2), mRNA.	221	NTR.				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding|fibronectin binding|integrin binding|receptor agonist activity			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				AGCTTGTAAATGGTCTTGCTC	0.468000														75			15		0	0	0.000958276	0	0
RNF219	79596	broad.mit.edu	37	13	79190253	79190253	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr13:79190253G>A	uc001vkw.1	-	5	1702	c.1643C>T	c.(1642-1644)tCa>tTa	p.S548L	BX647243_uc001vku.1_Non-coding_Transcript|RNF219_uc010afb.1_Missense_Mutation_p.S358L	NM_024546	NP_078822	Q5W0B1	RN219_HUMAN	Homo sapiens ring finger protein 219 (RNF219), mRNA.	548	Ser-rich.						zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		GCTGTTGTCTGACTCTGACAT	0.423000														102			19		0	0	0.00121646	0	0
RANBP3L	202151	broad.mit.edu	37	5	36257607	36257607	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:36257607C>T	uc011cow.2	-	9	1289	c.796G>A	c.(796-798)Gaa>Aaa	p.E266K	RANBP3L_uc003jkh.3_Missense_Mutation_p.E241K	NM_001161429	NP_001154901	Q86VV4	RNB3L_HUMAN	Homo sapiens RAN binding protein 3-like (RANBP3L), transcript variant 1, mRNA.	241					intracellular transport					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			AATGGTTTTTCCTTGGCATAT	0.313000														67			7		0	0	0.000157383	0	0
EPHA3	2042	broad.mit.edu	37	3	89521623	89521623	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:89521623C>T	uc003dqy.3	+	15	2925	c.2700C>T	c.(2698-2700)aaC>aaT	p.N900N	EPHA3_uc021xbf.1_Silent_p.N900N	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	900						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)		GGCCATCAAACCTTCTTCTGG	0.468000										TSP Lung(6;0.00050)				75			12		0	0	0.000308642	0	0
GREB1	9687	broad.mit.edu	37	2	11765422	11765423	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:11765422_11765423GG>TT	uc002rbk.1	+	23	4590_4591	c.4290_4291GG>TT	c.(4288-4293)cagggt>caTTgt	p.1430_1431QG>HC	GREB1_uc002rbp.1_Missense_Mutation_p.428_429QG>HC	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	Homo sapiens growth regulation by estrogen in breast cancer 1 (GREB1), transcript variant a, mRNA.	1430						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CGCACTATCAGGGTATAAAGAG	0.480000														166			8		0	0	6.4e-05	0	0
SGK2	10110	broad.mit.edu	37	20	42195112	42195112	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr20:42195112G>A	uc002xkv.3	+	0	376	c.157G>A	c.(157-159)Gag>Aag	p.E53K	SGK2_uc002xkr.3_Splice_Site|SGK2_uc010ggm.3_Splice_Site|SGK2_uc002xkt.3_Splice_Site|SGK2_uc002xku.3_Splice_Site|SGK2_uc002xkq.1_Splice_Site	NM_016276	NP_733794	Q9HBY8	SGK2_HUMAN	Homo sapiens serum/glucocorticoid regulated kinase 2 (SGK2), transcript variant 2, mRNA.	53					intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TGTCCCCCCAGAGCTGCCTGA	0.617000														54			6		0	0	0.000157383	0	0
PLCE1	51196	broad.mit.edu	37	10	96066191	96066191	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:96066191C>T	uc001kjk.3	+	25	6264	c.5630C>T	c.(5629-5631)tCt>tTt	p.S1877F	PLCE1_uc010qnx.2_Missense_Mutation_p.S1861F|PLCE1_uc001kjm.3_Missense_Mutation_p.S1569F|PLCE1_uc001kjp.3_Missense_Mutation_p.S235F	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	1877	C2.				Ras protein signal transduction|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|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TAGATTGTCTCTGGTCAGAAT	0.522000														53			7		0	0	0.000442599	0	0
CD163	9332	broad.mit.edu	37	12	7651781	7651781	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:7651781C>T	uc001qsz.3	-	3	589	c.461G>A	c.(460-462)gGa>gAa	p.G154E	CD163_uc001qta.3_Missense_Mutation_p.G154E|CD163_uc009zfw.2_Missense_Mutation_p.G154E	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	154					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						CAAATTGGATCCATCTGGAGC	0.413000														81			8		0	0	0.000274275	0	0
ABCA8	10351	broad.mit.edu	37	17	66914290	66914290	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:66914290G>A	uc002jhq.3	-	15	2285	c.1945C>T	c.(1945-1947)Ccc>Tcc	p.P649S	ABCA8_uc002jhp.3_Missense_Mutation_p.P609S|ABCA8_uc010wqq.2_Missense_Mutation_p.P649S|ABCA8_uc010wqr.2_Missense_Mutation_p.P588S|ABCA8_uc002jhr.3_Missense_Mutation_p.P649S	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	609	ABC transporter 1.					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)					CTTGAAAAGGGATCCAATCCA	0.453000														40			9		0	0	0.000442599	0	0
EMILIN3	90187	broad.mit.edu	37	20	39991017	39991018	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr20:39991017_39991018GG>AA	uc002xjy.1	-	3	1415_1416	c.1191_1192CC>TT	c.(1189-1194)ggcctt>ggTTtt	p.L398F		NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN	Homo sapiens elastin microfibril interfacer 3 (EMILIN3), mRNA.	398						proteinaceous extracellular matrix				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				GCCCTCTCAAGGCCATCCATAC	0.663000														32			15		0	0	6.4e-05	0	0
ABCE1	6059	broad.mit.edu	37	4	146042490	146042490	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:146042490G>A	uc003ijx.3	+	12	1650	c.1210G>A	c.(1210-1212)Gta>Ata	p.V404I	ABCE1_uc003ijy.3_Missense_Mutation_p.V404I|ABCE1_uc010iot.3_Non-coding_Transcript	NM_001040876	NP_002931	P61221	ABCE1_HUMAN	Homo sapiens ATP-binding cassette, sub-family E (OABP), member 1 (ABCE1), transcript variant 2, mRNA.	404	ABC transporter 2.				RNA catabolic process|interspecies interaction between organisms|response to virus	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					TGCAGGAGAAGTACCAGTTCT	0.284000														92			18		0	0	0.00229938	0	0
NMUR1	10316	broad.mit.edu	37	2	232389792	232389792	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:232389792C>T	uc002vry.4	-	2	1353	c.1243G>A	c.(1243-1245)Gat>Aat	p.D415N		NM_006056	NP_006047	Q9HB89	NMUR1_HUMAN	Homo sapiens neuromedin U receptor 1 (NMUR1), mRNA.	415					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		TCTGGGCCATCGTTCCCAGCC	0.652000														29			6		0	0	0.00116845	0	0
LIN7A	8825	broad.mit.edu	37	12	81205453	81205453	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:81205453C>T	uc001szj.1	-	4	686	c.493G>A	c.(493-495)Gga>Aga	p.G165R	LIN7A_uc001szk.1_Non-coding_Transcript	NM_004664	NP_004655	O14910	LIN7A_HUMAN	Homo sapiens lin-7 homolog A (C. elegans) (LIN7A), mRNA.	165	PDZ.				exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						TGGTGTTCTCCTTCCACACTC	0.433000														40			12		0	0	0.00244969	0	0
FBXL2	25827	broad.mit.edu	37	3	33425589	33425589	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:33425589A>G	uc003cfp.3	+	13	1131	c.1060A>G	c.(1060-1062)Atc>Gtc	p.I354V	FBXL2_uc011axm.1_Non-coding_Transcript|FBXL2_uc011axn.1_Non-coding_Transcript|FBXL2_uc011axp.2_Missense_Mutation_p.I270V|FBXL2_uc021wuy.1_Missense_Mutation_p.I286V|FBXL2_uc011axo.2_Missense_Mutation_p.I249V|FBXL2_uc011axr.1_Non-coding_Transcript|FBXL2_uc011axq.1_Non-coding_Transcript|FBXL2_uc011axs.1_Non-coding_Transcript	NM_012157	NP_036289	Q9UKC9	FBXL2_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 2 (FBXL2), transcript variant 1, mRNA.	354					interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						CTGCCTCCTCATCACTGATGT	0.582000														35			7		0	0	0.00198382	0	0
C6orf118	168090	broad.mit.edu	37	6	165715346	165715346	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:165715346C>T	uc003qum.4	-	1	501	c.465G>A	c.(463-465)ggG>ggA	p.G155G	C6orf118_uc011egi.1_Non-coding_Transcript	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	Homo sapiens chromosome 6 open reading frame 118 (C6orf118), mRNA.	155										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		TTTCTTCCTTCCCCTCTCTGA	0.612000														40			10		0	0	0.000673444	0	0
PKD2	5311	broad.mit.edu	37	4	88967960	88967960	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:88967960C>T	uc003hre.3	+	5	1573	c.1486C>T	c.(1486-1488)Cgc>Tgc	p.R496C	PKD2_uc011cdf.2_Intron	NM_000297	NP_000288	Q13563	PKD2_HUMAN	Homo sapiens polycystic kidney disease 2 (autosomal dominant) (PKD2), mRNA.	496						basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity	p.R496C(4)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		ATTGGAAATTCGCATTCACAA	0.368000														73			13		0	0	0.000308642	0	0
MAP4K3	8491	broad.mit.edu	37	2	39499519	39499519	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:39499519G>A	uc002rro.3	-	25	1969	c.1878C>T	c.(1876-1878)tcC>tcT	p.S626S	MAP4K3_uc002rrp.3_Silent_p.S605S|MAP4K3_uc010yns.2_Silent_p.S179S	NM_003618	NP_003609	Q8IVH8	M4K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 3 (MAP4K3), mRNA.	626	CNH.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				GTAAATTATGGGAATAAAGCT	0.318000														65			21		0	0	0.00152264	0	0
MYO6	4646	broad.mit.edu	37	6	76570771	76570771	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:76570771G>A	uc003pih.1	+	14	1784	c.1505G>A	c.(1504-1506)gGt>gAt	p.G502D	MYO6_uc003pig.1_Missense_Mutation_p.G502D|MYO6_uc003pii.1_Missense_Mutation_p.G502D	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	Homo sapiens myosin VI (MYO6), mRNA.	502	Myosin head-like.				DNA damage response, signal transduction by p53 class mediator|actin filament-based movement|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	DNA-directed RNA polymerase II, holoenzyme|Golgi apparatus|cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|filamentous actin|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	ADP binding|ATP binding|actin filament binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GAAGGTTTAGGTGTTAATGAA	0.313000														63			17		0	0	0.00188189	0	0
PRDM9	56979	broad.mit.edu	37	5	23526713	23526713	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:23526713C>T	uc003jgo.3	+	10	1698	c.1516C>T	c.(1516-1518)Cca>Tca	p.P506S		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	506					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						GAAAGTGAATCCAGGGAACAC	0.438000										HNSCC(3;0.000094)				15			10		0	0	0.000673444	0	0
MAT1A	4143	broad.mit.edu	37	10	82036311	82036311	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:82036311G>A	uc001kbw.3	-	5	844	c.589C>T	c.(589-591)Cct>Tct	p.P197S		NM_000429	NP_000420	Q00266	METK1_HUMAN	Homo sapiens methionine adenosyltransferase I, alpha (MAT1A), mRNA.	197					S-adenosylmethionine biosynthetic process|methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity			endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	ATGCGCACAGGGATGACTGCG	0.577000														49			9		0	0	0.000673444	0	0
CELSR3	1951	broad.mit.edu	37	3	48668507	48668507	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:48668507G>A	uc003cuf.1	-	44	11268	c.11268C>T	c.(11266-11268)atC>atT	p.I3756I	CELSR3_uc003cug.3_Silent_p.I330I|CELSR3_uc011bbp.2_Silent_p.I315I|CELSR3_uc010hke.3_Silent_p.I202I|CELSR3_uc003cuk.3_Silent_p.I244I|CELSR3_uc003cuh.3_Silent_p.I351I|CELSR3_uc003cui.3_Silent_p.I351I|CELSR3_uc003cuj.3_Silent_p.I351I	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	0					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|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)		CAACCACAGCGATGGTGAAGG	0.612000														50			14		0	0	0.00244969	0	0
NFX1	4799	broad.mit.edu	37	9	33311157	33311157	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr9:33311157G>C	uc003zsr.3	+	5	1583	c.1430G>C	c.(1429-1431)tGt>tCt	p.C477S	NFX1_uc011lnw.2_Missense_Mutation_p.C477S|NFX1_uc003zso.3_Missense_Mutation_p.C477S|NFX1_uc003zsp.2_Missense_Mutation_p.C477S|NFX1_uc010mjr.2_Missense_Mutation_p.C477S|NFX1_uc003zsq.3_Missense_Mutation_p.C477S	NM_002504	NP_002495	Q12986	NFX1_HUMAN	Homo sapiens nuclear transcription factor, X-box binding 1 (NFX1), transcript variant 1, mRNA.	477					inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T476K(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		ACAAAAACATGTGAATGTGGA	0.408000														101			22		0	0	0.000586117	0	0
SCN8A	6334	broad.mit.edu	37	12	52159652	52159652	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:52159652C>T	uc001ryw.3	+	15	2920	c.2742C>T	c.(2740-2742)ctC>ctT	p.L914L	SCN8A_uc010snl.2_Silent_p.L914L|SCN8A_uc001ryy.2_Silent_p.L779L	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA.	914					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	ACTGTGAACTCCCTCGCTGGC	0.488000														73			19		0	0	0.000958276	0	0
C5	727	broad.mit.edu	37	9	123753538	123753538	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr9:123753538C>T	uc004bkv.3	-	22	2902	c.2872G>A	c.(2872-2874)Gag>Aag	p.E958K		NM_001735	NP_001726	P01031	CO5_HUMAN	Homo sapiens complement component 5 (C5), mRNA.	958					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	TATGGGAACTCCTTTCGTCTG	0.338000														91			16		0	0	0.00121646	0	0
TNN	63923	broad.mit.edu	37	1	175052918	175052918	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:175052918G>A	uc001gkl.1	+	4	1194	c.1081G>A	c.(1081-1083)Gat>Aat	p.D361N	TNN_uc010pmx.1_Missense_Mutation_p.D361N	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	361	Fibronectin type-III 2.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CTGGGTGACAGATGAGACTGA	0.562000														28			10		0	0	0.000673444	0	0
TRANK1	9881	broad.mit.edu	37	3	36899218	36899218	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:36899218C>T	uc003cgj.3	-	11	2111	c.1863G>A	c.(1861-1863)ggG>ggA	p.G621G		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	621					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						TTGAGAGCTTCCCCAGGTGGG	0.572000														65			12		0	0	0.00136819	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	4925192	4925192	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chrY:4925192G>A	uc004fqo.3	+	0	1062	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	PCDH11Y_uc010nwg.1_Missense_Mutation_p.E99K|PCDH11Y_uc004fql.1_Missense_Mutation_p.E99K|PCDH11Y_uc004fqm.1_Missense_Mutation_p.E99K|PCDH11Y_uc004fqn.1_Missense_Mutation_p.E110K	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA.	110	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GATTCGAATTGAAGAGGATAC	0.448000														33			17		0	0	0.000958276	0	0
CSMD1	64478	broad.mit.edu	37	8	2967741	2967741	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr8:2967741C>T	uc022aqr.1	-	42	6937	c.6547G>A	c.(6547-6549)Gga>Aga	p.G2183R	CSMD1_uc011kwj.2_Missense_Mutation_p.G1576R|CSMD1_uc010lrg.3_Missense_Mutation_p.G252R	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2184	CUB 13.					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)		ATGTAAACTCCGTGCCCTGGA	0.473000														12			4		0	0	0.000602214	0	0
GART	2618	broad.mit.edu	37	21	34882224	34882224	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr21:34882224G>A	uc002yrz.3	-	17	2629	c.2318C>T	c.(2317-2319)tCc>tTc	p.S773F	GART_uc002yrx.3_Missense_Mutation_p.S773F|GART_uc010gmd.3_Missense_Mutation_p.S435F|GART_uc002yry.3_Missense_Mutation_p.S773F	NM_001136005	NP_001129478	P22102	PUR2_HUMAN	Homo sapiens phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase (GART), transcript variant 3, mRNA.	773	AIRS.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	CACACGTGGGGAACCTTCATT	0.303000														36			6		0	0	0.00116845	0	0
PLXNA4	91584	broad.mit.edu	37	7	131895803	131895803	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:131895803C>T	uc003vra.4	-	9	2426	c.2197G>A	c.(2197-2199)Ggg>Agg	p.G733R		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	733						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CCACGCTGCCCAGACTGGGGC	0.627000														8			4		0	0	0.00024832	0	0
POF1B	79983	broad.mit.edu	37	X	84561284	84561284	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chrX:84561284G>A	uc004eer.2	-	11	1366	c.1220C>T	c.(1219-1221)tCt>tTt	p.S407F	POF1B_uc004ees.3_Missense_Mutation_p.S407F	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	Homo sapiens premature ovarian failure, 1B (POF1B), mRNA.	407							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						ATGTCGAAGAGAGAGATTGTT	0.348000														21			9		0	0	0.000978159	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76572111	76572111	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr16:76572111C>T	uc002fex.1	+	17	3242	c.3103C>T	c.(3103-3105)Cat>Tat	p.H1035Y	CNTNAP4_uc002feu.1_Missense_Mutation_p.H1031Y|CNTNAP4_uc002fev.1_Missense_Mutation_p.H896Y|CNTNAP4_uc010chb.1_Missense_Mutation_p.H959Y	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	1032					cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TGCTTCATTTCATGGTGATAT	0.368000														43			14		0	0	0.00185496	0	0
SMARCA4	6597	broad.mit.edu	37	19	11113773	11113773	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:11113773C>T	uc010dxp.3	+	12	2241	c.1881C>T	c.(1879-1881)atC>atT	p.I627I	SMARCA4_uc010dxo.3_Silent_p.I627I|SMARCA4_uc002mqf.4_Silent_p.I627I|SMARCA4_uc002mqg.1_Silent_p.I627I|SMARCA4_uc010dxq.3_Silent_p.I627I|SMARCA4_uc010dxr.3_Silent_p.I627I|SMARCA4_uc002mqj.4_Silent_p.I627I|SMARCA4_uc010dxs.3_Silent_p.I627I	NM_001128844	NP_003063	P51532	SMCA4_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA.	627					chromatin remodeling|negative regulation of S phase of mitotic cell cycle|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|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	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nuclear chromatin	ATP binding|DNA binding|DNA-dependent ATPase activity|androgen receptor binding|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)				GTGGGAAGATCCTCACAGGCA	0.597000			"""F, N, Mis"""		NSCLC									46			11		0	0	0.00136819	0	0
LY75-CD302	100526664	broad.mit.edu	37	2	160676288	160676288	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:160676288C>T	uc002ubb.4	-	28	4176	c.4102G>A	c.(4102-4104)Gaa>Aaa	p.E1368K	LY75-CD302_uc010fos.3_Missense_Mutation_p.E1368K|LY75-CD302_uc002ubc.4_Missense_Mutation_p.E1368K	NM_001198759	NP_001185688	O60449	LY75_HUMAN	Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA.	1368	C-type lectin 8.				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding										TAAACTGCTTCTTCAATAACT	0.343000														78			6		0	0	0.000673444	0	0
C15orf2	23742	broad.mit.edu	37	15	24924364	24924364	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr15:24924364C>T	uc001ywo.3	+	0	3824	c.3350C>T	c.(3349-3351)cCt>cTt	p.P1117L		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	1117					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CCTTGTGTTCCTGCTTTTCAA	0.488000														51			16		0	0	0.000566183	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140209875	140209875	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:140209875G>A	uc003lho.2	+	0	2226	c.2199G>A	c.(2197-2199)acG>acA	p.T733T	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dab.2_Silent_p.T733T	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	738					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGTGCACGGCGGACAAGC	0.687000														37			7		0	0	0.00198382	0	0
RSPRY1	89970	broad.mit.edu	37	16	57243085	57243085	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr16:57243085C>T	uc002elb.3	+	3	780	c.502C>T	c.(502-504)Cca>Tca	p.P168S	RSPRY1_uc002elc.3_Missense_Mutation_p.P168S|RSPRY1_uc002eld.3_Missense_Mutation_p.P168S	NM_133368	NP_588609	Q96DX4	RSPRY_HUMAN	Homo sapiens ring finger and SPRY domain containing 1 (RSPRY1), mRNA.	168						extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						AGATGAATGTCCATTGCCCAC	0.348000														103			17		0	0	0.000958276	0	0
BIRC3	330	broad.mit.edu	37	11	102195745	102195745	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:102195745G>A	uc001pgx.3	+	1	3300	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K		NM_182962	NP_892007	Q13489	BIRC3_HUMAN	Homo sapiens baculoviral IAP repeat containing 3 (BIRC3), transcript variant 2, mRNA.	169					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		AATGAATAACGAAAATGCCAG	0.413000			T	MALT1	MALT									86			12		0	0	0.00136819	0	0
KIAA1958	158405	broad.mit.edu	37	9	115421633	115421633	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr9:115421633C>T	uc011lwx.1	+	4	1694	c.1519C>T	c.(1519-1521)Cat>Tat	p.H507Y	KIAA1958_uc004bgf.1_Missense_Mutation_p.H479Y	NM_133465	NP_597722	Q8N8K9	K1958_HUMAN	Homo sapiens KIAA1958 (KIAA1958), mRNA.	479										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						CACCTCGCTCCATGCTATTCG	0.547000														31			8		0	0	0.000157383	0	0
PDCD11	22984	broad.mit.edu	37	10	105162956	105162956	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:105162956C>T	uc001kwy.1	+	3	403	c.316C>T	c.(316-318)Ctc>Ttc	p.L106F		NM_014976	NP_055791	Q14690	RRP5_HUMAN	Homo sapiens programmed cell death 11 (PDCD11), mRNA.	106	S1 motif 1.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CCCCAATGGCCTCCAGGGCTT	0.468000														129			18		0	0	0.00121646	0	0
CDH8	1006	broad.mit.edu	37	16	61687944	61687944	+	Missense_Mutation	SNP	A	T	T	rs143586940	by1000genomes	TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr16:61687944A>T	uc002eog.2	-	11	2923	c.1968T>A	c.(1966-1968)gaT>gaA	p.D656E		NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	656					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)		CGTCTTCATCATCTTTGATAA	0.403000														62			14		0	0	0.00244969	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558106	140558106	+	Missense_Mutation	SNP	G	A	A	rs150947375		TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:140558106G>A	uc011dai.2	+	0	736	c.491G>A	c.(490-492)gGc>gAc	p.G164D	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	164	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTAGATATAGGCCAAAACAAT	0.458000														84			14		0	0	0.00074312	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12856096	12856096	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:12856096C>T	uc001auj.2	+	3	1479	c.1376C>T	c.(1375-1377)tCc>tTc	p.S459F		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	459										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCCTGCCCTTCCTGTGGCTCA	0.562000														68			7		0	0	0.000308642	0	0
UGT3A1	133688	broad.mit.edu	37	5	35988570	35988570	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:35988570C>T	uc003jjv.2	-	1	371	c.178G>A	c.(178-180)Gga>Aga	p.G60R	UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Missense_Mutation_p.G60R|UGT3A1_uc011cor.2_Intron|UGT3A1_uc003jjy.2_Missense_Mutation_p.G6R	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.	60						integral to membrane	glucuronosyltransferase activity	p.G60*(2)|p.G60G(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAAAACTTTCCACTCTGATGA	0.338000														24			10		0	0	0.000442599	0	0
MMP15	4324	broad.mit.edu	37	16	58072257	58072257	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr16:58072257C>T	uc002ena.3	+	2	1372	c.399C>T	c.(397-399)gcC>gcT	p.A133A		NM_002428	NP_002419	P51511	MMP15_HUMAN	Homo sapiens matrix metallopeptidase 15 (membrane-inserted) (MMP15), mRNA.	133					protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding	p.A133T(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						AGCGCTACGCCCTCACCGGGA	0.652000														53			10		0	0	0.000978159	0	0
SPEN	23013	broad.mit.edu	37	1	16258959	16258959	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:16258959C>A	uc001axk.1	+	10	6428	c.6224C>A	c.(6223-6225)tCa>tAa	p.S2075*	SPEN_uc010obp.1_Nonsense_Mutation_p.S2034*	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	2075					Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AACTCCAAATCAAAGAGAGGA	0.488000														97			16		1.15088e-07	5.70786e-07	0.000422831	1	0
SRCIN1	80725	broad.mit.edu	37	17	36700076	36700076	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:36700076C>T	uc002hqd.3	-	17	3624	c.3399G>A	c.(3397-3399)cgG>cgA	p.R1133R	SRCIN1_uc002hqf.1_Silent_p.R1005R|SRCIN1_uc002hqe.2_Silent_p.R1028R	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN	Homo sapiens SRC kinase signaling inhibitor 1 (SRCIN1), mRNA.	1005					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						GGGCCTGGATCCGCATGTACT	0.706000														16			4		0	0	0.00024832	0	0
RETNLB	84666	broad.mit.edu	37	3	108475997	108475997	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:108475997G>A	uc003dxh.2	-	0	134	c.36C>T	c.(34-36)atC>atT	p.I12I		NM_032579	NP_115968	Q9BQ08	RETNB_HUMAN	Homo sapiens resistin like beta (RETNLB), mRNA.	12					cell proliferation	extracellular region	hormone activity			endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						GGAGAAGGGGGATTAGGATGA	0.507000														29			6		0	0	0.00198382	0	0
TREML2	79865	broad.mit.edu	37	6	41165871	41165871	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:41165871C>T	uc010jxm.1	-	1	531	c.352G>A	c.(352-354)Ggc>Agc	p.G118S		NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 2 (TREML2), mRNA.	118	Ig-like V-type.				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGCTGGAAGCCCATCAAGGGG	0.597000														18			4		0	0	0.00116845	0	0
LRRC32	2615	broad.mit.edu	37	11	76372307	76372307	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:76372307C>T	uc001oxq.4	-	2	573	c.330G>A	c.(328-330)gcG>gcA	p.A110A	LRRC32_uc001oxr.4_Silent_p.A110A|LRRC32_uc010rsf.2_Silent_p.A110A	NM_005512	NP_005503	Q14392	LRC32_HUMAN	Homo sapiens leucine rich repeat containing 32 (LRRC32), transcript variant 1, mRNA.	110						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						CAGTGGCCATCGCCAGCCGGT	0.672000														34			8		0	0	0.000157383	0	0
ARHGAP17	55114	broad.mit.edu	37	16	24942649	24942649	+	Silent	SNP	T	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr16:24942649T>A	uc002dnb.3	-	18	2064	c.1971A>T	c.(1969-1971)tcA>tcT	p.S657S	ARHGAP17_uc002dmw.3_5'UTR|ARHGAP17_uc002dmy.3_Silent_p.S102S|ARHGAP17_uc002dmz.3_Silent_p.S181S|ARHGAP17_uc002dna.3_Silent_p.S384S|ARHGAP17_uc002dnc.3_Silent_p.S579S|ARHGAP17_uc010vcf.2_Silent_p.S400S	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN	Homo sapiens Rho GTPase activating protein 17 (ARHGAP17), transcript variant 1, mRNA.	657	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		GAGATGTTCCTGAAGAACTCT	0.622000														82			11		0	0	0.000673444	0	0
RXFP2	122042	broad.mit.edu	37	13	32376410	32376410	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr13:32376410G>A	uc001utt.3	+	17	2204	c.2133G>A	c.(2131-2133)agG>agA	p.R711R	RXFP2_uc010aba.3_Silent_p.R687R	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 2 (RXFP2), transcript variant 1, mRNA.	711						integral to membrane|plasma membrane				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)		AACATCAGAGGAAATCAATTT	0.353000														88			22		0	0	0.00152264	0	0
GAGE1	2543	broad.mit.edu	37	X	49355815	49355815	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chrX:49355815G>A	uc004doi.4	+	2	194	c.97G>A	c.(97-99)Gat>Aat	p.D33N	GAGE1_uc004doj.3_Intron	NM_001127212	NP_001120684	Q13065	GAGE1_HUMAN	Homo sapiens G antigen 2A (GAGE2A), mRNA.	34					cellular defense response							Ovarian(276;0.236)					GCAGTTCAGTGATGAAGTGGA	0.458000														132			11		0	0	0.000308642	0	0
TAS2R38	5726	broad.mit.edu	37	7	141672853	141672853	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:141672853A>C	uc003vwx.1	-	0	721	c.637T>G	c.(637-639)Tct>Gct	p.S213A		NM_176817	NP_789787	P59533	T2R38_HUMAN	Homo sapiens taste receptor, type 2, member 38 (TAS2R38), mRNA.	213					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					AGCATCCCAGAAGAAACCAGA	0.463000														40			6		0	0	0.00198382	0	0
ANKRD17	26057	broad.mit.edu	37	4	73956802	73956802	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:73956802G>A	uc003hgp.3	-	28	6660	c.6543C>T	c.(6541-6543)ccC>ccT	p.P2181P	ANKRD17_uc003hgo.3_Silent_p.P2068P|ANKRD17_uc003hgq.3_Silent_p.P1930P|ANKRD17_uc003hgr.3_Silent_p.P2180P	NM_032217	NP_115593	O75179	ANR17_HUMAN	Homo sapiens ankyrin repeat domain 17 (ANKRD17), transcript variant 1, mRNA.	2181					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGCCATGAGGGGGTGGTCTAA	0.502000														94			18		0	0	0.000958276	0	0
CPNE5	57699	broad.mit.edu	37	6	36716016	36716016	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:36716016C>T	uc003omr.1	-	14	1067	c.1000G>A	c.(1000-1002)Gat>Aat	p.D334N	CPNE5_uc003omp.1_Missense_Mutation_p.D42N|CPNE5_uc010jwn.1_5'UTR|CPNE5_uc003omq.1_5'UTR	NM_020939	NP_065990	Q9HCH3	CPNE5_HUMAN	Homo sapiens copine V (CPNE5), mRNA.	334	VWFA.							p.D334V(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GCAGTGAAATCAATGGCCACA	0.592000														88			12		0	0	0.00244969	0	0
TCOF1	6949	broad.mit.edu	37	5	149755020	149755020	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:149755020C>T	uc003lry.3	+	10	1715	c.1607C>T	c.(1606-1608)gCc>gTc	p.A536V	TCOF1_uc003lrw.3_Missense_Mutation_p.A536V|TCOF1_uc003lrz.3_Missense_Mutation_p.A536V|TCOF1_uc011dch.2_Missense_Mutation_p.A536V|TCOF1_uc003lrx.3_Missense_Mutation_p.A459V|TCOF1_uc003lsa.3_Missense_Mutation_p.A459V|TCOF1_uc011dci.1_Missense_Mutation_p.A25V	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	Homo sapiens Treacher Collins-Franceschetti syndrome 1 (TCOF1), transcript variant 4, mRNA.	536					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCCCCTCAGCCCAGGTGGGG	0.662000														35			6		0	0	0.00116845	0	0
MYLK4	340156	broad.mit.edu	37	6	2749435	2749435	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:2749435C>T	uc003mty.4	-	1	391	c.94G>A	c.(94-96)Gag>Aag	p.E32K		NM_001012418	NP_001012418	Q86YV6	MYLK4_HUMAN	Homo sapiens myosin light chain kinase family, member 4 (MYLK4), mRNA.	32							ATP binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				TTCACTTTCTCCACCTCTTCC	0.383000														65			16		0	0	0.00074312	0	0
DNAH5	1767	broad.mit.edu	37	5	13766289	13766289	+	Splice_Site	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:13766289C>T	uc003jfd.2	-	59	9940	c.9898_splice	c.e59-1	p.T3300_splice	DNAH5_uc003jfc.2_Splice_Site	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3300	Stalk (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)					GCCTGATGGTCTGGGGGATGA	0.522000									Kartagener syndrome					49			7		0	0	0.00198382	0	0
GPR98	84059	broad.mit.edu	37	5	90052371	90052371	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:90052371C>T	uc003kju.3	+	55	11777	c.11681C>T	c.(11680-11682)cCc>cTc	p.P3894L	GPR98_uc003kjt.3_Missense_Mutation_p.P1600L|GPR98_uc003kjv.3_Missense_Mutation_p.P1494L	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3894					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GTGCGGAGGCCCGGAATGGAA	0.413000														74			15		0	0	0.00244969	0	0
TUBGCP4	27229	broad.mit.edu	37	15	43692279	43692279	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr15:43692279C>T	uc001zro.3	+	13	1699	c.1459C>T	c.(1459-1461)Cgg>Tgg	p.R487W	TUBGCP4_uc001zrn.3_Missense_Mutation_p.R486W|TUBGCP4_uc010bdh.3_Non-coding_Transcript	NM_014444	NP_055259	Q9UGJ1	GCP4_HUMAN	Homo sapiens tubulin, gamma complex associated protein 4 (TUBGCP4), mRNA.	487					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		GAGTGTGCGCCGGGTGCAAGC	0.483000														25			4		0	0	0.00024832	0	0
ZDBF2	57683	broad.mit.edu	37	2	207174927	207174927	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:207174927C>T	uc002vbp.2	+	4	5925	c.5675C>T	c.(5674-5676)gCt>gTt	p.A1892V		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	1892							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CCAACTCAAGCTGTGTCAGAG	0.443000														27			8		0	0	0.000274275	0	0
SRCIN1	80725	broad.mit.edu	37	17	36708189	36708190	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:36708189_36708190CC>TT	uc002hqd.3	-	13	2884_2885	c.2659_2660GG>AA	c.(2659-2661)ggg>AAg	p.G887K	SRCIN1_uc002hqf.1_Missense_Mutation_p.G759K|SRCIN1_uc002hqe.2_Missense_Mutation_p.G741K|SRCIN1_uc002hqg.3_Missense_Mutation_p.G193K	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN	Homo sapiens SRC kinase signaling inhibitor 1 (SRCIN1), mRNA.	759					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding	p.K886N(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						GGGGTTGCCCCCCTTGGGGGTA	0.624000														34			7		0	0	6.4e-05	0	0
MSI1	4440	broad.mit.edu	37	12	120783433	120783433	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:120783433G>A	uc001tye.1	-	13	1114	c.1050C>T	c.(1048-1050)ggC>ggT	p.G350G		NM_002442	NP_002433	O43347	MSI1H_HUMAN	Homo sapiens musashi homolog 1 (Drosophila) (MSI1), mRNA.	350					nervous system development	cytoplasm|nucleus	nucleotide binding			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAATCAAAGGGCCCTGAAAAG	0.567000														67			9		0	0	0.00244969	0	0
ODZ2	57451	broad.mit.edu	37	5	167645536	167645536	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:167645536C>T	uc010jjd.3	+	22	4613	c.4613C>T	c.(4612-4614)tCa>tTa	p.S1538L	ODZ2_uc003lzr.4_Missense_Mutation_p.S1308L|ODZ2_uc003lzt.4_Missense_Mutation_p.S911L|ODZ2_uc010jje.3_Missense_Mutation_p.S802L	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		AATTCCCCATCATCCTTAGCT	0.493000														107			22		0	0	0.00047179	0	0
CIITA	4261	broad.mit.edu	37	16	11001701	11001701	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr16:11001701G>A	uc002daj.4	+	10	2488	c.2355G>A	c.(2353-2355)agG>agA	p.R785R	CIITA_uc002dai.4_Silent_p.R784R|CIITA_uc002dak.4_Intron|CIITA_uc002dag.2_Silent_p.R784R|CIITA_uc002dah.2_Silent_p.R736R|CIITA_uc010bup.1_Intron	NM_000246	NP_000237	P33076	C2TA_HUMAN	Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA.	784					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	ATP binding|activating transcription factor binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CGGTGGACAGGAAGCAGAAGG	0.706000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """									41			11		0	0	0.000673444	0	0
MAP3K15	389840	broad.mit.edu	37	X	19389505	19389505	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chrX:19389505G>A	uc022btq.1	-	22	3252	c.3252C>T	c.(3250-3252)tcC>tcT	p.S1084S	MAP3K15_uc004czj.2_Silent_p.S519S|MAP3K15_uc004czk.2_Silent_p.S559S|MAP3K15_uc004czi.2_Silent_p.S18S	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 15 (MAP3K15), mRNA.	1084							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					TCTGACTGATGGACGAGCTGT	0.532000														37			8		0	0	0.000274275	0	0
SPRY2	10253	broad.mit.edu	37	13	80911527	80911527	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr13:80911527G>A	uc001vli.3	-	1	1292	c.314C>T	c.(313-315)gCc>gTc	p.A105V	SPRY2_uc001vlj.3_Missense_Mutation_p.A105V|SPRY2_uc021rkz.1_Missense_Mutation_p.A105V	NM_005842	NP_005833	O43597	SPY2_HUMAN	Homo sapiens sprouty homolog 2 (Drosophila) (SPRY2), mRNA.	105					epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade	cytosol|microtubule|ruffle membrane	protein serine/threonine kinase activator activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	12	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)		GBM - Glioblastoma multiforme(99;0.0318)		GGACAGAGGGGCTCGTGCAGA	0.602000														56			11		0	0	0.00185496	0	0
THSD4	79875	broad.mit.edu	37	15	72050291	72050291	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr15:72050291G>A	uc002atb.1	+	13	2545	c.2466G>A	c.(2464-2466)atG>atA	p.M822I	THSD4_uc002ate.2_Missense_Mutation_p.M462I|THSD4_uc002atg.1_Missense_Mutation_p.M25I	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA.	822	TSP type-1 4.					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						TGGTGTGCATGACCAACCATG	0.657000														17			13		0	0	0.000566183	0	0
TRAF5	7188	broad.mit.edu	37	1	211533227	211533227	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:211533227C>T	uc010psx.2	+	4	470	c.385C>T	c.(385-387)Cca>Tca	p.P129S	TRAF5_uc001hih.3_Intron|TRAF5_uc001hii.3_Intron|TRAF5_uc010psy.2_Intron|TRAF5_uc001hij.3_Intron	NM_001033910	NP_665702	O00463	TRAF5_HUMAN	Homo sapiens TNF receptor-associated factor 5 (TRAF5), transcript variant 3, mRNA.	126					apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis	CD40 receptor complex|centrosome|internal side of plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		TCAGCAGGTCCCACTGGCCTG	0.552000														25			23		0	0	0.00047179	0	0
FAT4	79633	broad.mit.edu	37	4	126239578	126239578	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:126239578C>T	uc003ifj.4	+	0	2012	c.2012C>T	c.(2011-2013)tCa>tTa	p.S671L		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	671	Cadherin 6.				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						CCCCAGTCATCAATGGCTCGC	0.488000														50			10		0	0	0.000978159	0	0
PCDH15	65217	broad.mit.edu	37	10	55587287	55587287	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:55587287C>A	uc010qhy.1	-	32	4643	c.4248G>T	c.(4246-4248)aaG>aaT	p.K1416N	PCDH15_uc010qhq.2_Missense_Mutation_p.K1416N|PCDH15_uc010qhr.2_Missense_Mutation_p.K1411N|PCDH15_uc021pqv.1_Missense_Mutation_p.K1411N|PCDH15_uc021pqw.1_Missense_Mutation_p.K1423N|PCDH15_uc010qht.2_Missense_Mutation_p.K1418N|PCDH15_uc021pqx.1_Missense_Mutation_p.K1411N|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.K1411N|PCDH15_uc021pqz.1_Missense_Mutation_p.K1386N|PCDH15_uc010qhv.1_Missense_Mutation_p.K1408N|PCDH15_uc010qhw.1_Missense_Mutation_p.K1371N|PCDH15_uc010qhx.1_Missense_Mutation_p.K1340N|PCDH15_uc010qhz.1_Missense_Mutation_p.K1411N|PCDH15_uc010qia.1_Missense_Mutation_p.K1389N|PCDH15_uc001jju.1_Missense_Mutation_p.K1411N|PCDH15_uc010qib.1_Missense_Mutation_p.K1386N	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1411					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)				TTCGTGCAGTCTTTGTACACT	0.527000										HNSCC(58;0.16)				65			17		5.03518e-11	2.50205e-10	0.000958276	1	0
OR2B11	127623	broad.mit.edu	37	1	247614572	247614572	+	Missense_Mutation	SNP	C	T	T	rs149924080		TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:247614572C>T	uc010pyx.2	-	0	713	c.713G>A	c.(712-714)cGa>cAa	p.R238Q		NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 11 (OR2B11), mRNA.	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R238*(2)|p.R238Q(2)		endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GGCCTTGTGTCGTCCCTTGGA	0.567000														35			15		0	0	0.000308642	0	0
ALX4	60529	broad.mit.edu	37	11	44286723	44286723	+	Missense_Mutation	SNP	G	A	A	rs149897209	byFrequency	TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:44286723G>A	uc001myb.3	-	3	1021	c.917C>T	c.(916-918)cCg>cTg	p.P306L		NM_021926	NP_068745	Q9H161	ALX4_HUMAN	Homo sapiens ALX homeobox 4 (ALX4), mRNA.	306					hair follicle development			p.P306P(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						GAGCCAGGACGGGTTCTGAAT	0.682000														11			4		0	0	0.000602214	0	0
SLC16A9	220963	broad.mit.edu	37	10	61413579	61413579	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:61413579G>A	uc010qig.1	-	4	1654	c.1205C>T	c.(1204-1206)tCt>tTt	p.S402F		NM_194298	NP_919274	Q7RTY1	MOT9_HUMAN	Homo sapiens solute carrier family 16, member 9 (monocarboxylic acid transporter 9) (SLC16A9), mRNA.	402					urate metabolic process	integral to membrane|plasma membrane	symporter activity	p.S402S(1)		kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						TAGGATCCCAGAAAGCAACGC	0.408000														50			10		0	0	0.000978159	0	0
CYP2B7P1	1556	broad.mit.edu	37	19	41442010	41442010	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:41442010G>A	uc010ehg.1	+	1	188	c.180G>A	c.(178-180)gaG>gaA	p.E60E	CYP2A7_uc002opo.3_Intron|CYP2B7P1_uc010ehh.1_Silent_p.E60E|CYP2B7P1_uc002opq.3_Non-coding_Transcript					Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 7 pseudogene 1 (CYP2B7P1), non-coding RNA.											NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						AGTTCCGAGAGAAATATGGGG	0.512000														18			5		0	0	0.000602214	0	0
YES1	7525	broad.mit.edu	37	18	756706	756706	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr18:756706G>A	uc002kky.3	-	1	343	c.122C>T	c.(121-123)cCa>cTa	p.P41L	YES1_uc002kkz.3_Missense_Mutation_p.P41L	NM_005433	NP_005424	P07947	YES_HUMAN	Homo sapiens v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1 (YES1), mRNA.	41					T cell costimulation|blood coagulation|leukocyte migration|regulation of vascular permeability	cytosol|plasma membrane	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	TGACGGACATGGTGACACTGT	0.463000														118			13		0	0	0.000566183	0	0
COL5A1	1289	broad.mit.edu	37	9	137702115	137702115	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr9:137702115G>A	uc004cfe.3	+	43	3871	c.3489G>A	c.(3487-3489)gaG>gaA	p.E1163E		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	1163	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)		AGATCGGGGAGCCGGGGCAGA	0.592000														44			10		0	0	0.000673444	0	0
MYH6	4624	broad.mit.edu	37	14	23871969	23871969	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr14:23871969G>A	uc001wjv.3	-	10	1010	c.939C>T	c.(937-939)ttC>ttT	p.F313F	MYH6_uc010akp.2_Silent_p.F313F	NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	313	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CCTGAGACACGAAGGCGTAGT	0.652000														13			5		0	0	0.00116845	0	0
TIE1	7075	broad.mit.edu	37	1	43779026	43779026	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:43779026C>T	uc001ciu.3	+	12	2325	c.2148C>T	c.(2146-2148)ttC>ttT	p.F716F	TIE1_uc010okd.2_Silent_p.F716F|TIE1_uc010oke.2_Silent_p.F671F|TIE1_uc009vwq.3_Silent_p.F672F|TIE1_uc010okf.1_Silent_p.F361F|TIE1_uc010okg.2_Silent_p.F361F	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	716	Fibronectin type-III 3.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCTACCTCTTCCGCATGCGGG	0.652000														51			10		0	0	0.000673444	0	0
ABCA10	10349	broad.mit.edu	37	17	67218787	67218788	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:67218787_67218788GG>AA	uc010dfa.1	-	4	964_965	c.85_86CC>TT	c.(85-87)cca>TTa	p.P29L	ABCA10_uc010wqt.1_Non-coding_Transcript|ABCA10_uc010dfc.1_5'UTR	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA.	29					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					GTATTTTTTTGGAAGTTCTATA	0.337000														46			10		0	0	6.4e-05	0	0
ZNF569	148266	broad.mit.edu	37	19	37916859	37916859	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:37916859G>A	uc002ogj.3	-	7	1153	c.221C>T	c.(220-222)cCg>cTg	p.P74L	ZNF569_uc002ogh.3_Intron|ZNF569_uc002ogi.3_Missense_Mutation_p.P50L	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	Homo sapiens zinc finger protein 569 (ZNF569), mRNA.	50	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTGGTGAACGGATAGCCTGT	0.443000														170			32		0	0	0.00178596	0	0
CD109	135228	broad.mit.edu	37	6	74497077	74497077	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:74497077T>G	uc003php.3	+	20	2889	c.2458T>G	c.(2458-2460)Ttt>Gtt	p.F820V	CD109_uc003phq.3_Missense_Mutation_p.F820V|CD109_uc010kba.3_Missense_Mutation_p.F743V	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN	Homo sapiens CD109 molecule (CD109), transcript variant 1, mRNA.	820						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AACTGTTCTTTTTCCCATCAG	0.443000														49			7		0	0	0.00198382	0	0
FAM170A	340069	broad.mit.edu	37	5	118970319	118970319	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:118970319G>A	uc003ksm.2	+	2	1086	c.876G>A	c.(874-876)gaG>gaA	p.E292E	FAM170A_uc003ksl.2_Intron|FAM170A_uc003ksn.3_Silent_p.E292E|FAM170A_uc003kso.3_Silent_p.E245E	NM_182761	NP_877438	A1A519	F170A_HUMAN	Homo sapiens family with sequence similarity 170, member A (FAM170A), transcript variant 1, mRNA.	292	Glu-rich.					intracellular	zinc ion binding	p.E292K(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						aggaggaagagaaaccagaag	0.517000														55			7		0	0	0.000157383	0	0
ZFP3	124961	broad.mit.edu	37	17	4995975	4995975	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:4995975C>T	uc002gaq.3	+	1	1301	c.1176C>T	c.(1174-1176)ccC>ccT	p.P392P	ZFP3_uc021tog.1_Silent_p.P392P	NM_153018	NP_694563	Q96NJ6	ZFP3_HUMAN	Homo sapiens zinc finger protein 3 homolog (mouse) (ZFP3), mRNA.	392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						GAGAGAAACCCTATGAATGCT	0.453000														32			10		0	0	0.000673444	0	0
TRIM9	114088	broad.mit.edu	37	14	51477128	51477128	+	Missense_Mutation	SNP	C	T	T	rs142156620		TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr14:51477128C>T	uc001wyx.4	-	3	1891	c.1126G>A	c.(1126-1128)Gaa>Aaa	p.E376K	TRIM9_uc001wyy.2_Missense_Mutation_p.E376K|TRIM9_uc001wyz.4_Missense_Mutation_p.E376K	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	Homo sapiens tripartite motif containing 9 (TRIM9), transcript variant 1, mRNA.	376	COS.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding	p.E376K(2)		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)					GGATCATTTTCCTTAATCACC	0.418000														64			17		0	0	0.00152264	0	0
OR51F1	256892	broad.mit.edu	37	11	4790235	4790235	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:4790235T>A	uc010qyl.2	-	0	913	c.913A>T	c.(913-915)Atg>Ttg	p.M305L		NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 1 (OR51F1), mRNA.	305						integral to membrane	olfactory receptor activity	p.M305V(2)		kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		AGACTGAGCATAGCCTTGCGG	0.418000														33			8		0	0	0.000274275	0	0
OR1G1	8390	broad.mit.edu	37	17	3030680	3030680	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:3030680G>A	uc002fvc.1	-	0	166	c.166C>T	c.(166-168)Cat>Tat	p.H56Y		NM_003555	NP_003546	P47890	OR1G1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily G, member 1 (OR1G1), mRNA.	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						ATGGGGGTATGGAGTTGAGTG	0.507000														51			9		0	0	0.000442599	0	0
CHL1	10752	broad.mit.edu	37	3	367692	367692	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:367692C>T	uc003bot.3	+	3	784	c.142C>T	c.(142-144)Ccc>Tcc	p.P48S	CHL1_uc003bou.3_Missense_Mutation_p.P48S|CHL1_uc003bow.2_Missense_Mutation_p.P48S|CHL1_uc011asi.2_Missense_Mutation_p.P48S	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	48	Ig-like C2-type 1.				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)		AGTTGCCTTTCCCTTCGATGA	0.343000														20			6		0	0	0.00198382	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	163545	163545	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:163545G>A	uc003jak.2	+	10	2340	c.2290G>A	c.(2290-2292)Gag>Aag	p.E764K		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	764					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		TGTAGCCACAGAGAAGAAGCT	0.642000														43			16		0	0	0.000308642	0	0
DSG3	1830	broad.mit.edu	37	18	29046573	29046573	+	Missense_Mutation	SNP	G	A	A	rs145720587	byFrequency	TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr18:29046573G>A	uc002kws.3	+	10	1601	c.1492G>A	c.(1492-1494)Gaa>Aaa	p.E498K		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	498	Cadherin 4.				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)			AGCTGTCCTCGAAAAAGATGC	0.418000														87			12		0	0	0.00185496	0	0
LILRB4	11006	broad.mit.edu	37	19	55175422	55175422	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:55175422G>A	uc002qgp.3	+	2	643	c.281G>A	c.(280-282)gGg>gAg	p.G94E	LILRB4_uc002qgo.1_Missense_Mutation_p.G135E|LILRB4_uc002qgq.3_Missense_Mutation_p.G94E|LILRB4_uc010ers.1_Missense_Mutation_p.G7E|LILRB4_uc010ert.3_Missense_Mutation_p.G135E|LILRB4_uc010eru.3_Missense_Mutation_p.G123E	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 (LILRB4), transcript variant 1, mRNA.	94	Ig-like C2-type 1.					integral to membrane|plasma membrane	antigen binding|receptor activity	p.A93E(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		GACTATGCAGGGAGATACCGC	0.577000														53			18		0	0	0.00074312	0	0
MXRA5	25878	broad.mit.edu	37	X	3238618	3238618	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chrX:3238618C>T	uc004crg.4	-	4	5265	c.5108G>A	c.(5107-5109)gGa>gAa	p.G1703E		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1703						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)				GTTGTTATTTCCAAACACTTT	0.433000														38			21		0	0	0.00152264	0	0
DRD2	1813	broad.mit.edu	37	11	113286168	113286168	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:113286168C>T	uc001pnz.3	-	3	1019	c.698G>A	c.(697-699)aGg>aAg	p.R233K	DRD2_uc010rwv.2_Missense_Mutation_p.R232K|DRD2_uc001poa.4_Missense_Mutation_p.R233K|DRD2_uc001pob.4_Missense_Mutation_p.R233K|DRD2_uc009yyr.1_Missense_Mutation_p.R233K	NM_000795	NP_000786	P14416	DRD2_HUMAN	Homo sapiens dopamine receptor D2 (DRD2), transcript variant 1, mRNA.	233	Interaction with PPP1R9B (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	CAGGTGGGCCCTGAAAGCTCG	0.562000														58			8		0	0	0.000673444	0	0
RUSC2	9853	broad.mit.edu	37	9	35560484	35560484	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr9:35560484G>A	uc003zww.3	+	9	4102	c.3847G>A	c.(3847-3849)Gat>Aat	p.D1283N	RUSC2_uc010mkq.3_Non-coding_Transcript|RUSC2_uc003zwx.4_Missense_Mutation_p.D1283N	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	Homo sapiens RUN and SH3 domain containing 2 (RUSC2), mRNA.	1283						cytosol		p.I1282I(1)		NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GGTCTACATCGATGGCTCCAT	0.662000														47			11		0	0	0.00244969	0	0
PET112	5188	broad.mit.edu	37	4	152609888	152609888	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:152609888G>T	uc003iml.3	-	9	1266	c.1225C>A	c.(1225-1227)Caa>Aaa	p.Q409K		NM_004564	NP_004555	O75879	GATB_HUMAN	Homo sapiens PET112 homolog (yeast) (PET112), nuclear gene encoding mitochondrial protein, mRNA.	409						mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	ATCACATTTTGGAAGAACTCC	0.393000														74			16		9.7654e-05	0.000479249	0.000958276	1	0
OR5D16	390144	broad.mit.edu	37	11	55606461	55606461	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:55606461C>T	uc010rio.2	+	0	234	c.234C>T	c.(232-234)atC>atT	p.I78I		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 16 (OR5D16), mRNA.	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				ATTCCTCCATCATTGCTCCCA	0.398000														49			5		0	0	0.00116845	0	0
PRAMEF10	343071	broad.mit.edu	37	1	13634730	13634730	+	RNA	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:13634730G>A	uc001auz.4	+	3		c.943G>A						O60809	PRA10_HUMAN	Homo sapiens PRAME family member 10, mRNA (cDNA clone MGC:138413 IMAGE:8327676), complete cds.											NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGTACCTCAAGAACCCCTTGG	0.502000														50			6		0	0	0.000442599	0	0
CECR1	51816	broad.mit.edu	37	22	17688089	17688089	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr22:17688089G>A	uc002zmk.1	-	1	626	c.414C>T	c.(412-414)ttC>ttT	p.F138F	CECR1_uc010gqu.1_Silent_p.F138F|CECR1_uc011agi.1_Silent_p.F96F|CECR1_uc011agj.1_Silent_p.F96F	NM_017424	NP_059120	Q9NZK5	CECR1_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 1 (CECR1), transcript variant 1, mRNA.	138	PRB domain.				adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	Golgi apparatus|extracellular space	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				CCCTTGGGGTGAAACAGATGT	0.542000														34			24		0	0	0.00106085	0	0
KLHL14	57565	broad.mit.edu	37	18	30260436	30260436	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr18:30260436G>A	uc002kxm.1	-	5	1753	c.1365C>T	c.(1363-1365)tcC>tcT	p.S455S		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	Homo sapiens kelch-like 14 (Drosophila) (KLHL14), mRNA.	455						cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						GTGGCAAAGAGGACACATAGC	0.458000														49			5		0	0	0.00116845	0	0
OR5B12	390191	broad.mit.edu	37	11	58207292	58207292	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:58207292G>A	uc010rkh.2	-	0	355	c.333C>T	c.(331-333)ttC>ttT	p.F111F		NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 12 (OR5B12), mRNA.	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ATGCCAGGAGGAAACTTTCTG	0.443000														45			5		0	0	0.000602214	0	0
LRRTM3	347731	broad.mit.edu	37	10	68857444	68857444	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:68857444G>A	uc001jmz.1	+	2	2186	c.1636G>A	c.(1636-1638)Gaa>Aaa	p.E546K	CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.4_Intron|CTNNA3_uc009xpo.1_Intron	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 3 (LRRTM3), mRNA.	546						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						TAAGTCCTTTGAAACGAATGC	0.458000														25			5		0	0	0.000602214	0	0
USP6	9098	broad.mit.edu	37	17	5039961	5039961	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:5039961G>A	uc002gau.1	+	17	2921	c.691G>A	c.(691-693)Gtc>Atc	p.V231I	USP6_uc002gav.1_Missense_Mutation_p.V231I|USP6_uc010ckz.1_5'UTR|DQ576627_uc002gbb.3_5'Flank|DQ584383_uc021toj.1_5'Flank|DQ574802_uc021tok.1_5'Flank	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	231	Rab-GAP TBC.				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TGGTGGGACAGTCCAGGGGCT	0.562000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts									105			8		0	0	0.000274275	0	0
SPDYA	245711	broad.mit.edu	37	2	29072743	29072743	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:29072743G>A	uc002rmj.3	+	7	1084	c.878G>A	c.(877-879)gGa>gAa	p.G293E	SPDYA_uc002rmk.3_Missense_Mutation_p.G293E|TRMT61B_uc002rmm.3_3'UTR	NM_182756	NP_877433	Q5MJ70	SPDYA_HUMAN	Homo sapiens speedy homolog A (Xenopus laevis) (SPDYA), transcript variant 1, mRNA.	293					G1/S transition of mitotic cell cycle|multicellular organismal development|positive regulation of cell proliferation|response to DNA damage stimulus	nucleus	protein kinase binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					TCAAATAAAGGAAAGAAAACT	0.289000														47			9		0	0	0.000442599	0	0
MAB21L2	10586	broad.mit.edu	37	4	151504785	151504785	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:151504785G>A	uc003ilw.3	+	0	1709	c.604G>A	c.(604-606)Gag>Aag	p.E202K	LRBA_uc003ils.4_5'Flank|LRBA_uc003ilt.4_Intron|LRBA_uc003ilu.4_Intron|LRBA_uc010ipj.3_Intron	NM_006439	NP_006430	Q9Y586	MB212_HUMAN	Homo sapiens mab-21-like 2 (C. elegans) (MAB21L2), mRNA.	202					nervous system development	nucleus				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		TCGGGTGGCCGAGGTCAAGGC	0.647000														39			8		0	0	0.000157383	0	0
FER1L6	654463	broad.mit.edu	37	8	125029911	125029911	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr8:125029911C>A	uc003yqw.3	+	15	2172	c.1966C>A	c.(1966-1968)Caa>Aaa	p.Q656K	FER1L6-AS1_uc003yqx.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	656						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)			GATGTTGAACCAAACCACTTT	0.343000														60			5		0.00116845	0.0057017	0.00116845	1	0
HCCS	3052	broad.mit.edu	37	X	11133033	11133033	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chrX:11133033C>T	uc004cul.2	+	2	359	c.179C>T	c.(178-180)gCc>gTc	p.A60V	HCCS_uc004cuk.3_Missense_Mutation_p.A60V|HCCS_uc004cuj.3_Missense_Mutation_p.A60V	NM_001171991	NP_005324	P53701	CCHL_HUMAN	Homo sapiens holocytochrome c synthase (HCCS), transcript variant 3, mRNA.	60					organ morphogenesis|oxidation-reduction process	mitochondrial inner membrane	holocytochrome-c synthase activity|metal ion binding			kidney(1)|large_intestine(3)|lung(3)	7						CAGGAACGCGCCTATGAGTAC	0.468000														26			10		0	0	0.000978159	0	0
CFHR1	3078	broad.mit.edu	37	1	196801091	196801091	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:196801091G>A	uc001gtn.3	+	5	1069	c.955G>A	c.(955-957)Gat>Aat	p.D319N	CFH_uc021pgt.1_Intron|CFHR1_uc001gtm.3_Missense_Mutation_p.D223N	NM_002113	NP_002104	Q03591	FHR1_HUMAN	Homo sapiens complement factor H-related 1 (CFHR1), mRNA.	319	Sushi 5.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						AACATGTTGGGATGGGAAACT	0.358000														50			24		0	0	0.00127121	0	0
TECPR1	25851	broad.mit.edu	37	7	97862900	97862900	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:97862900G>A	uc003upg.3	-	10	1710	c.1505C>T	c.(1504-1506)tCg>tTg	p.S502L	TECPR1_uc003uph.1_Missense_Mutation_p.S432L	NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 1 (TECPR1), mRNA.	502						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GCCAGCGGCCGAGTGGCTGGG	0.692000														29			11		0	0	0.00136819	0	0
KBTBD12	166348	broad.mit.edu	37	3	127642866	127642866	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:127642866G>A	uc010hsr.3	+	0	965	c.962G>A	c.(961-963)gGa>gAa	p.G321E	KBTBD12_uc003ejy.4_Intron|KBTBD12_uc010hsq.3_Intron|KBTBD12_uc003eka.4_Intron|KBTBD12_uc003ejz.2_Missense_Mutation_p.G321E	NM_207335	NP_997218	Q3ZCT8	KBTBC_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 12 (KBTBD12), mRNA.	321										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						GAGGGTTTAGGAACTGTGTGT	0.403000														57			11		0	0	0.000978159	0	0
ACVR1	90	broad.mit.edu	37	2	158637084	158637084	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:158637084G>A	uc002tzn.3	-	3	526	c.96C>T	c.(94-96)ctC>ctT	p.L32L	ACVR1_uc002tzm.3_Silent_p.L32L|ACVR1_uc010fog.2_Silent_p.L32L	NM_001105	NP_001104537	Q04771	ACVR1_HUMAN	Homo sapiens activin A receptor, type I (ACVR1), transcript variant 1, mRNA.	32					BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	ATP binding|SMAD binding|activin binding|follistatin binding|metal ion binding|protein homodimerization activity|transforming growth factor beta binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	CACACATGTAGAGTTTGGGGT	0.468000														31			6		0	0	0.00198382	0	0
abParts	0	broad.mit.edu	37	15	22473063	22473063	+	RNA	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr15:22473063C>T	uc001yuj.2	-	6		c.265G>A								Parts of antibodies, mostly variable regions.																		TGATAGATTTCCCCAATCCAC	0.567000														98			15		0	0	0.00244969	0	0
CBLN4	140689	broad.mit.edu	37	20	54579025	54579025	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr20:54579025T>C	uc002xxa.3	-	0	988	c.203A>G	c.(202-204)aAc>aGc	p.N68S		NM_080617	NP_542184	Q9NTU7	CBLN4_HUMAN	Homo sapiens cerebellin 4 precursor (CBLN4), mRNA.	68	C1q.					cell junction|extracellular region|synapse				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			GACCTTGGAGTTGGCCGCCCG	0.637000														85			16		0	0	0.00074312	0	0
NPY2R	4887	broad.mit.edu	37	4	156136139	156136139	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:156136139C>T	uc003ioq.3	+	1	1537	c.1048C>T	c.(1048-1050)Cac>Tac	p.H350Y	NPY2R_uc003ior.3_Missense_Mutation_p.H350Y|NPY2R_uc021xtm.1_Missense_Mutation_p.H350Y	NM_000910	NP_000901	P49146	NPY2R_HUMAN	Homo sapiens neuropeptide Y receptor Y2 (NPY2R), mRNA.	350					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				GGATGCCATTCACTCTGAGGT	0.507000														52			9		0	0	0.000442599	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107459497	107459497	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:107459497C>T	uc002tdq.3	-	1	1056	c.937G>A	c.(937-939)Gaa>Aaa	p.E313K	ST6GAL2_uc002tdr.3_Missense_Mutation_p.E313K|ST6GAL2_uc002tds.3_Missense_Mutation_p.E313K	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	313					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CTACCTATTTCCTCGCCCAAG	0.667000														14			5		0	0	0.00116845	0	0
C1orf74	148304	broad.mit.edu	37	1	209956442	209956442	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:209956442G>A	uc001hhp.1	-	1	781	c.538C>T	c.(538-540)Cct>Tct	p.P180S	C1orf74_uc021pio.1_Missense_Mutation_p.P180S	NM_152485	NP_689698	Q96LT6	CA074_HUMAN	Homo sapiens chromosome 1 open reading frame 74 (C1orf74), mRNA.	180										endometrium(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	15				OV - Ovarian serous cystadenocarcinoma(81;0.0328)		TAGGGAACAGGATAGCCCAGG	0.517000														40			23		0	0	0.000878237	0	0
SERPING1	710	broad.mit.edu	37	11	57379302	57379302	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:57379302C>T	uc001nkp.1	+	6	1333	c.1142C>T	c.(1141-1143)gCc>gTc	p.A381V	SERPING1_uc010rju.1_Missense_Mutation_p.A329V|SERPING1_uc010rjv.1_Missense_Mutation_p.A386V|SERPING1_uc001nkr.1_Missense_Mutation_p.A381V|SERPING1_uc001nks.1_Missense_Mutation_p.A72V	NM_000062	NP_001027466	P05155	IC1_HUMAN	Homo sapiens serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 (SERPING1), transcript variant 1, mRNA.	381					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						GTTTTCAAGGCCATCATGGAG	0.507000														52			20		0	0	0.00121646	0	0
PRKAA2	5563	broad.mit.edu	37	1	57171796	57171796	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:57171796G>A	uc001cyk.4	+	7	1396	c.1325G>A	c.(1324-1326)aGa>aAa	p.R442K		NM_006252	NP_006243	P54646	AAPK2_HUMAN	Homo sapiens protein kinase, AMP-activated, alpha 2 catalytic subunit (PRKAA2), mRNA.	442					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						CGTGTAAGAAGAAAAAATCCA	0.308000														51			7		0	0	0.000157383	0	0
MMEL1	79258	broad.mit.edu	37	1	2540832	2540832	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:2540832C>T	uc001ajy.2	-	5	695	c.481G>A	c.(481-483)Gac>Aac	p.D161N	MMEL1_uc009vlg.1_Non-coding_Transcript	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN	Homo sapiens membrane metallo-endopeptidase-like 1 (MMEL1), mRNA.	161					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		GCCGGCCGGTCCTTGGCAGTC	0.677000														11			7		0	0	0.000157383	0	0
MYH4	4622	broad.mit.edu	37	17	10358013	10358013	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:10358013C>T	uc002gmn.3	-	21	2661	c.2550G>A	c.(2548-2550)gaG>gaA	p.E850E	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	850					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin 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						CCATCTCCTTCTCTGTCTCTG	0.453000														74			17		0	0	0.000958276	0	0
TRIM47	91107	broad.mit.edu	37	17	73870972	73870972	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:73870972G>A	uc002jpw.3	-	5	1536	c.1509C>T	c.(1507-1509)tcC>tcT	p.S503S	TRIM47_uc002jpv.3_Silent_p.S265S	NM_033452	NP_258411	Q96LD4	TRI47_HUMAN	Homo sapiens tripartite motif containing 47 (TRIM47), mRNA.	503	B30.2/SPRY.					cytoplasm|nucleus	zinc ion binding			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22			Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTCTTGTGGGGAGAAGTCTT	0.652000														46			10		0	0	0.00136819	0	0
CAMK1G	57172	broad.mit.edu	37	1	209773330	209773330	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:209773330G>A	uc001hhd.3	+	2	197	c.95G>A	c.(94-96)gGa>gAa	p.G32E	CAMK1G_uc001hhf.4_Missense_Mutation_p.G32E|CAMK1G_uc001hhe.3_Missense_Mutation_p.G32E	NM_020439	NP_065172	Q96NX5	KCC1G_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase IG (CAMK1G), mRNA.	32	Protein kinase.					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		CTCCTCAGAGGAGCTTTCTCA	0.468000														25			17		0	0	0.000566183	0	0
DHRS7	51635	broad.mit.edu	37	14	60616224	60616224	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr14:60616224C>T	uc001xes.3	-	5	1003	c.819G>A	c.(817-819)atG>atA	p.M273I	C14orf135_uc001xeq.2_Intron|DHRS7_uc001xet.3_Missense_Mutation_p.M223I	NM_016029	NP_057113	Q9Y394	DHRS7_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 7 (DHRS7), mRNA.	273							binding|oxidoreductase activity			endometrium(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(108;0.121)		TGCTGATTAACATCAGCCGCA	0.403000														46			8		0	0	0.000274275	0	0
DSCAM	1826	broad.mit.edu	37	21	41452109	41452109	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr21:41452109C>T	uc002yyq.1	-	24	4842	c.4390G>A	c.(4390-4392)Gaa>Aaa	p.E1464K	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1464	Fibronectin type-III 5.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCTATGATTTCACTTATGCGC	0.458000														75			13		0	0	0.00136819	0	0
ZNF804B	219578	broad.mit.edu	37	7	88956682	88956682	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:88956682G>A	uc011khi.2	+	2	812	c.274G>A	c.(274-276)Gaa>Aaa	p.E92K		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	Homo sapiens zinc finger protein 804B (ZNF804B), mRNA.	92						intracellular	zinc ion binding	p.R91L(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)			AAAGCAACGGGAATTTGCTCG	0.338000										HNSCC(36;0.09)				30			9		0	0	0.00136819	0	0
ABP1	26	broad.mit.edu	37	7	150558278	150558278	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:150558278G>A	uc003why.1	+	5	6455	c.2237G>A	c.(2236-2238)gGg>gAg	p.G746E	ABP1_uc003whz.1_Missense_Mutation_p.G746E|ABP1_uc003wia.1_Missense_Mutation_p.G765E	NM_001091	NP_001082	P19801	ABP1_HUMAN	Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	746					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	AGCTACAATGGGACCTATAGA	0.607000														11			9		0	0	0.000274275	0	0
OR2A14	135941	broad.mit.edu	37	7	143826480	143826480	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:143826480C>T	uc011kua.2	+	0	275	c.275C>T	c.(274-276)tCc>tTc	p.S92F		NM_001001659	NP_001001659	Q96R47	O2A14_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 14 (OR2A14), mRNA.	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S92T(1)		large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					AGCACCATCTCCTTTTTTCCA	0.438000														182			28		0	0	0.00178596	0	0
PDE1B	5153	broad.mit.edu	37	12	54966983	54966983	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:54966983C>T	uc001sgd.2	+	7	1180	c.787C>T	c.(787-789)Cat>Tat	p.H263Y	PDE1B_uc010soz.2_Missense_Mutation_p.H126Y|PDE1B_uc010spa.1_Missense_Mutation_p.H222Y|PDE1B_uc001sge.3_Missense_Mutation_p.H243Y|PDE1B_uc001sgf.3_Missense_Mutation_p.H126Y|PDE1B_uc009znq.3_Missense_Mutation_p.H59Y	NM_000924	NP_000915	Q01064	PDE1B_HUMAN	Homo sapiens phosphodiesterase 1B, calmodulin-dependent (PDE1B), transcript variant 1, mRNA.	263	Catalytic (By similarity).				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						TGCAGCTATCCATGATTATGA	0.572000														77			15		0	0	0.00121646	0	0
MUSK	4593	broad.mit.edu	37	9	113509934	113509934	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr9:113509934C>T	uc022blv.1	+	6	901	c.767C>T	c.(766-768)tCc>tTc	p.S256F	MUSK_uc022blt.1_Missense_Mutation_p.S256F|MUSK_uc004bez.2_Missense_Mutation_p.S266F|MUSK_uc022blu.1_Missense_Mutation_p.S256F	NM_005592	NP_005583	O15146	MUSK_HUMAN	Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA.	256	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						TCTTCTGGGTCCATTCAAGAG	0.413000														42			8		0	0	0.000274275	0	0
SCN9A	6335	broad.mit.edu	37	2	167142981	167142981	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:167142981G>A	uc010fpl.3	-	10	1808	c.1467C>T	c.(1465-1467)tcC>tcT	p.S489S	BC051759_uc002udp.3_Intron|SCN9A_uc002udr.1_Silent_p.S360S|SCN9A_uc002uds.1_Silent_p.S360S|SCN9A_uc002udt.1_Silent_p.S360S	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	489						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)	CCTCTCCACTGGAGAGCTTCT	0.423000														59			14		0	0	0.00185496	0	0
SORL1	6653	broad.mit.edu	37	11	121492969	121492969	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:121492969G>A	uc001pxx.3	+	44	6292	c.6163G>A	c.(6163-6165)Gaa>Aaa	p.E2055K	SORL1_uc010rzp.1_Missense_Mutation_p.E901K|SORL1_uc010rzq.1_Missense_Mutation_p.E670K	NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	2055	Fibronectin type-III 6.				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)		GCATTTTAATGAAAGCAGGGT	0.363000														33			10		0	0	0.000673444	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140215568	140215568	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:140215568C>T	uc003lhq.2	+	0	1600	c.1600C>T	c.(1600-1602)Cag>Tag	p.Q534*	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dac.2_Nonsense_Mutation_p.Q534*	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	548	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTGCAGTTCCAGGTGAGCGC	0.682000														105			27		0	0	0.00106085	0	0
SI	6476	broad.mit.edu	37	3	164772986	164772986	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:164772986C>T	uc003fei.3	-	12	1571	c.1508G>A	c.(1507-1509)tGg>tAg	p.W503*		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	503	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|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)	ACTTACAATCCAAAGTCCATC	0.323000										HNSCC(35;0.089)				40			9		0	0	0.000274275	0	0
CPVL	54504	broad.mit.edu	37	7	29152324	29152324	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:29152324G>A	uc003szv.3	-	2	403	c.284C>T	c.(283-285)gCt>gTt	p.A95V	CPVL_uc003szw.3_Missense_Mutation_p.A95V|CPVL_uc003szx.3_Missense_Mutation_p.A95V	NM_031311	NP_112601	Q9H3G5	CPVL_HUMAN	Homo sapiens carboxypeptidase, vitellogenic-like (CPVL), transcript variant 1, mRNA.	95					proteolysis		protein binding|serine-type carboxypeptidase activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						ACCTACCTGAGCTGGGAAGAA	0.483000														22			6		0	0	0.000157383	0	0
CAPN12	147968	broad.mit.edu	37	19	39230712	39230713	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:39230712_39230713GG>AA	uc002ojd.1	-	4	1016_1017	c.707_708CC>TT	c.(706-708)tcc>tTT	p.S236F		NM_144691	NP_653292	Q6ZSI9	CAN12_HUMAN	Homo sapiens calpain 12 (CAPN12), mRNA.	236	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CGCCCACGAGGGACTCCTTGGC	0.639000														23			5		0	0	6.4e-05	0	0
DMBT1	1755	broad.mit.edu	37	10	124336133	124336133	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:124336133G>A	uc001lgk.1	+	6	608	c.502G>A	c.(502-504)Gat>Aat	p.D168N	DMBT1_uc001lgl.1_Missense_Mutation_p.D168N|DMBT1_uc001lgm.1_Missense_Mutation_p.D168N|DMBT1_uc021qaf.1_Missense_Mutation_p.D168N|DMBT1_uc021qag.1_Missense_Mutation_p.D168N|DMBT1_uc021qah.1_Missense_Mutation_p.D168N|DMBT1_uc009xzz.1_Missense_Mutation_p.D168N|DMBT1_uc010qtx.1_Missense_Mutation_p.D168N|DMBT1_uc009yaa.1_Missense_Mutation_p.D20N	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	168	SRCR 1.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein 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)				TGCCCTGGATGATGTGCGCTG	0.582000														60			10		0	0	0.000442599	0	0
NR1I3	9970	broad.mit.edu	37	1	161200969	161200969	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:161200969C>T	uc001fzx.3	-	6	964	c.761G>A	c.(760-762)cGa>cAa	p.R254Q	TOMM40L_uc009wuf.2_Intron|NR1I3_uc021pbw.1_Missense_Mutation_p.R250Q|NR1I3_uc001fzm.3_Missense_Mutation_p.R175Q|NR1I3_uc001fzn.3_Intron|NR1I3_uc001fzf.3_Missense_Mutation_p.R250Q|NR1I3_uc009wug.3_Missense_Mutation_p.R83Q|NR1I3_uc001fzo.3_Missense_Mutation_p.R83Q|NR1I3_uc001fzt.3_Intron|NR1I3_uc001fzs.3_Intron|NR1I3_uc001fzr.3_Intron|NR1I3_uc001fzq.3_Intron|NR1I3_uc001fzv.3_Intron|NR1I3_uc001fzu.3_Intron|NR1I3_uc001fzy.3_Missense_Mutation_p.R250Q|NR1I3_uc001fzw.3_Missense_Mutation_p.R254Q|NR1I3_uc001fzz.3_Intron|NR1I3_uc001fzh.3_Missense_Mutation_p.R221Q|NR1I3_uc001gab.3_Intron|NR1I3_uc001gac.3_Missense_Mutation_p.R225Q|NR1I3_uc001fzp.3_Missense_Mutation_p.R254Q|NR1I3_uc001fzg.3_Missense_Mutation_p.R221Q|NR1I3_uc001gaa.3_Intron|NR1I3_uc001fzj.3_Missense_Mutation_p.R221Q|NR1I3_uc001fzi.3_Missense_Mutation_p.R221Q|NR1I3_uc001fzl.3_Intron|NR1I3_uc001fzk.3_Intron|NR1I3_uc010pkm.2_Missense_Mutation_p.R221Q|NR1I3_uc010pkn.1_3'UTR	NM_001077480	NP_001070948	Q14994	NR1I3_HUMAN	Homo sapiens nuclear receptor subfamily 1, group I, member 3 (NR1I3), transcript variant 2, mRNA.	254					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CTGCAGTTTTCGTAGTGTTCC	0.532000														24			12		0	0	0.00185496	0	0
abParts	0	broad.mit.edu	37	2	90211769	90211769	+	RNA	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:90211769C>T	uc010yts.2	+	36		c.4625C>T								Parts of antibodies, mostly variable regions.																		TTCTCTTCCTCCTGCTACTCT	0.517000														55			9		0	0	0.000673444	0	0
WDTC1	23038	broad.mit.edu	37	1	27630175	27630175	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:27630175C>T	uc009vst.2	+	13	2067	c.1532C>T	c.(1531-1533)tCc>tTc	p.S511F	WDTC1_uc001bno.3_Missense_Mutation_p.S510F|WDTC1_uc001bnp.1_Non-coding_Transcript|WDTC1_uc001bnq.3_Missense_Mutation_p.S189F	NM_015023	NP_055838	Q8N5D0	WDTC1_HUMAN	Homo sapiens WD and tetratricopeptide repeats 1 (WDTC1), mRNA.	511							protein binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		CGCAAGGACTCCATCTCAGAG	0.592000														56			11		0	0	0.000673444	0	0
PRUNE2	158471	broad.mit.edu	37	9	79465444	79465444	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr9:79465444G>A	uc010mpk.3	-	2	403	c.279C>T	c.(277-279)aaC>aaT	p.N93N	PRUNE2_uc022bih.1_Intron|PRUNE2_uc004akn.3_Silent_p.N93N	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	93					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GCTGATGCAGGTTAATTTCAT	0.413000														72			12		0	0	0.000978159	0	0
FAT2	2196	broad.mit.edu	37	5	150924410	150924410	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:150924410G>A	uc003lue.4	-	8	6291	c.6278C>T	c.(6277-6279)tCt>tTt	p.S2093F		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	2093	Cadherin 18.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATCAGTGGCAGATACCTGAAA	0.443000														59			15		0	0	0.000566183	0	0
ZNF777	27153	broad.mit.edu	37	7	149152510	149152510	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:149152510G>A	uc003wfv.3	-	1	767	c.604C>T	c.(604-606)Cag>Tag	p.Q202*		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	Homo sapiens zinc finger protein 777 (ZNF777), mRNA.	202					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CTCATGGCCTGGGCCTCCAGC	0.602000														126			14		0	0	0.000308642	0	0
OR8J1	219477	broad.mit.edu	37	11	56128424	56128424	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:56128424G>A	uc010rjh.2	+	0	734	c.702G>A	c.(700-702)agG>agA	p.R234R		NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily J, member 1 (OR8J1), mRNA.	234					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)					CAGAAGGAAGGAAAAAAGCCT	0.348000														29			7		0	0	0.00198382	0	0
OR4F6	390648	broad.mit.edu	37	15	102346092	102346092	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr15:102346092C>T	uc010utr.2	+	0	170	c.170C>T	c.(169-171)tCc>tTc	p.S57F		NM_001005326	NP_001005326	Q8NGB9	OR4F6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily F, member 6 (OR4F6), mRNA.	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			CGTTTACAGTCCCCCATGTAC	0.463000														153			74		0	0	0.000781405	0	0
KIF6	221458	broad.mit.edu	37	6	39607510	39607510	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:39607510G>A	uc003oot.2	-	3	370	c.275C>T	c.(274-276)aCc>aTc	p.T92I	KIF6_uc010jxa.1_5'UTR|KIF6_uc011dua.1_Missense_Mutation_p.T92I|KIF6_uc010jxb.1_Missense_Mutation_p.T92I	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	Homo sapiens kinesin family member 6 (KIF6), mRNA.	92	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TGCAAAGATGGTACCATTGTA	0.428000														34			5		0	0	0.000157383	0	0
LHCGR	3973	broad.mit.edu	37	2	48936151	48936151	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:48936151C>T	uc002rwu.4	-	7	686	c.616G>A	c.(616-618)Gaa>Aaa	p.E206K	STON1-GTF2A1L_uc021vhf.1_Intron|LHCGR_uc002rwv.2_Non-coding_Transcript	NM_000233	NP_000224	P22888	LSHR_HUMAN	Homo sapiens luteinizing hormone/choriogonadotropin receptor (LHCGR), mRNA.	206					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	p.E206K(2)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	TGTACGTTTTCCTTTAGCTCC	0.507000														32			7		0	0	0.000157383	0	0
EDC4	23644	broad.mit.edu	37	16	67914622	67914622	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr16:67914622C>T	uc002eur.3	+	17	2499	c.2260C>T	c.(2260-2262)Cgt>Tgt	p.R754C	EDC4_uc010cer.3_Missense_Mutation_p.R373C|EDC4_uc002eus.3_Missense_Mutation_p.R484C|EDC4_uc002eut.1_5'Flank	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN	Homo sapiens enhancer of mRNA decapping 4 (EDC4), mRNA.	754					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	p.R754C(2)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		GGCCCTGTCCCGTGGTTTTGG	0.647000														126			17		0	0	0.00121646	0	0
RBM28	55131	broad.mit.edu	37	7	127976096	127976096	+	Splice_Site	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:127976096C>T	uc003vmp.2	-	7	729	c.614_splice	c.e7-1	p.G205_splice	RBM28_uc011koj.1_Splice_Site_p.G64_splice|RBM28_uc011kok.1_Splice_Site_p.G152_splice	NM_018077	NP_060547	Q9NW13	RBM28_HUMAN	Homo sapiens RNA binding motif protein 28 (RBM28), transcript variant 1, mRNA.	205					RNA splicing|mRNA processing	Golgi apparatus|nucleolus|spliceosomal complex	RNA binding|nucleotide binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						CTTTTCCTCACCTATGGAGGG	0.368000														16			12		0	0	0.000566183	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100491171	100491171	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:100491171G>A	uc001tgq.3	-	5	870	c.641C>T	c.(640-642)tCa>tTa	p.S214L	UHRF1BP1L_uc001tgr.3_Missense_Mutation_p.S214L	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	Homo sapiens UHRF1 binding protein 1-like (UHRF1BP1L), transcript variant 1, mRNA.	214										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TCTGATTTTTGATTGGTTGGT	0.338000														24			9		0	0	0.000274275	0	0
GPR35	2859	broad.mit.edu	37	2	241569699	241569699	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:241569699C>T	uc010fzi.2	+	5	1295	c.423C>T	c.(421-423)atC>atT	p.I141I	GPR35_uc010fzh.2_Silent_p.I141I|GPR35_uc021vze.1_Silent_p.I110I|GPR35_uc002vzs.2_Silent_p.I110I	NM_001195381	NP_001182310	Q9HC97	GPR35_HUMAN	Homo sapiens G protein-coupled receptor 35 (GPR35), transcript variant 2, mRNA.	110						integral to plasma membrane	G-protein coupled receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		TCACGGCCATCGCCGTGGACC	0.697000														20			7		0	0	0.000274275	0	0
HAVCR2	84868	broad.mit.edu	37	5	156533972	156533972	+	Splice_Site	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:156533972C>T	uc003lwk.2	-	2	313	c.59_splice	c.e2-1	p.R20_splice	HAVCR2_uc003lwl.3_Splice_Site_p.R20_splice	NM_032782	NP_116171	Q8TDQ0	HAVR2_HUMAN	Homo sapiens hepatitis A virus cellular receptor 2 (HAVCR2), mRNA.	20						integral to membrane				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)			CTTCTGAGGACCCTGCATAGA	0.547000														130			26		0	0	0.000586117	0	0
HSPA8	3312	broad.mit.edu	37	11	122929032	122929032	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:122929032C>T	uc001pyo.3	-	7	1818	c.1683G>A	c.(1681-1683)aaG>aaA	p.K561K	HSPA8_uc009zbc.3_Silent_p.K325K|HSPA8_uc001pyp.3_Intron|HSPA8_uc010rzu.2_Silent_p.K484K	NM_006597	NP_006588	P11142	HSP7C_HUMAN	Homo sapiens heat shock 70kDa protein 8 (HSPA8), transcript variant 1, mRNA.	561					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CATCGTTAATCTTGCCTTGAA	0.363000														102			9		0	0	0.000442599	0	0
SLIT2	9353	broad.mit.edu	37	4	20568947	20568947	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:20568947G>A	uc003gpr.1	+	26	2992	c.2788G>A	c.(2788-2790)Gat>Aat	p.D930N	SLIT2_uc003gps.1_Missense_Mutation_p.D922N	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	930	EGF-like 1.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GTGTAAAAATGATGGCACATG	0.383000														65			13		0	0	0.00136819	0	0
PLXNC1	10154	broad.mit.edu	37	12	94654615	94654615	+	Splice_Site	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:94654615G>A	uc001tdc.3	+	20	3699	c.3450_splice	c.e20+1	p.R1150_splice	PLXNC1_uc010sut.2_Splice_Site_p.R197_splice|PLXNC1_uc009zsv.3_5'Flank	NM_005761	NP_005752	O60486	PLXC1_HUMAN	Homo sapiens plexin C1 (PLXNC1), transcript variant 1, mRNA.	1150					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GGATTTCTCCGGGTAAGTGTC	0.483000														19			4		0	0	0.00024832	0	0
OR4F6	390648	broad.mit.edu	37	15	102346078	102346078	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr15:102346078C>T	uc010utr.2	+	0	156	c.156C>T	c.(154-156)gaC>gaT	p.D52D		NM_001005326	NP_001005326	Q8NGB9	OR4F6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily F, member 6 (OR4F6), mRNA.	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TGACCTCTGACCCTCGTTTAC	0.468000														154			75		0	0	0.000781405	0	0
CEP170	9859	broad.mit.edu	37	1	243329328	243329328	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:243329328A>T	uc021plo.1	-	12	2342	c.1934T>A	c.(1933-1935)cTt>cAt	p.L645H	CEP170_uc021plp.1_Missense_Mutation_p.L547H|CEP170_uc021plq.1_Missense_Mutation_p.L547H|CEP170_uc001hzv.1_Missense_Mutation_p.L23H	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	Homo sapiens centrosomal protein 170kDa (CEP170), transcript variant alpha, mRNA.	645						centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			AAGCTGGGGAAGAGTTCGTCT	0.463000														10			4		0	0	0.00024832	0	0
PCDHB16	57717	broad.mit.edu	37	5	140562564	140562564	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:140562564G>A	uc003liv.3	+	0	1585	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K		NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	Homo sapiens protocadherin beta 16 (PCDHB16), mRNA.	144	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.E144K(2)|p.P143P(1)		breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAAAATACCGGAAAACAGTCC	0.388000														46			7		0	0	0.00198382	0	0
ANK3	288	broad.mit.edu	37	10	61834170	61834170	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:61834170G>A	uc001jky.3	-	36	6807	c.6469C>T	c.(6469-6471)Ccc>Tcc	p.P2157S	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	2157					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						GGAGGGATGGGAACTTCATGA	0.478000														53			12		0	0	0.000422831	0	0
NRXN3	9369	broad.mit.edu	37	14	80164238	80164238	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr14:80164238G>A	uc001xun.3	+	14	3254	c.2763G>A	c.(2761-2763)gcG>gcA	p.A921A	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc001xup.2_Non-coding_Transcript|NRXN3_uc001xuq.2_Silent_p.A289A|NRXN3_uc010asw.3_Silent_p.A319A|NRXN3_uc001xur.4_Silent_p.A289A	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	289					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CTACAATGGCGACTACCACAA	0.438000														12			5		0	0	0.00116845	0	0
ABCC10	89845	broad.mit.edu	37	6	43412955	43412955	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:43412955A>G	uc003ouy.1	+	13	3148	c.2933A>G	c.(2932-2934)aAt>aGt	p.N978S	ABCC10_uc003ouz.1_Missense_Mutation_p.N950S|ABCC10_uc010jyo.1_Missense_Mutation_p.N84S	NM_001198934	NP_001185863	Q5T3U5	MRP7_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA.	978	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)			GCTGGTGTAAATTCCCTCTGC	0.587000														34			7		0	0	0.00198382	0	0
IDO2	169355	broad.mit.edu	37	8	39872789	39872789	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr8:39872789G>A	uc010lwy.1	+	10	1173	c.931G>A	c.(931-933)Gat>Aat	p.D311N	IDO2_uc003xno.1_Non-coding_Transcript|IDO2_uc010lwz.1_Missense_Mutation_p.D52N|IDO2_uc003xnp.1_Missense_Mutation_p.D52N	NM_194294	NP_919270	Q6ZQW0	I23O2_HUMAN	Homo sapiens indoleamine 2,3-dioxygenase 2 (IDO2), mRNA.	298					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						CAGAATGAGGGATTACATGCC	0.458000														26			6		0	0	0.00198382	0	0
BRD9	65980	broad.mit.edu	37	5	878594	878594	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:878594G>A	uc003jbq.3	-	10	1314	c.1147C>T	c.(1147-1149)Ctc>Ttc	p.L383F	BRD9_uc003jbl.3_Missense_Mutation_p.L267F|BRD9_uc003jbm.3_Non-coding_Transcript|BRD9_uc003jbn.3_Non-coding_Transcript|BRD9_uc011cmb.2_Missense_Mutation_p.L330F|BRD9_uc003jbo.3_Missense_Mutation_p.L287F|BRD9_uc003jbp.3_Missense_Mutation_p.L44F|BRD9_uc011cmc.1_Non-coding_Transcript	NM_023924	NP_076413	Q9H8M2	BRD9_HUMAN	Homo sapiens bromodomain containing 9 (BRD9), transcript variant 1, mRNA.	383							nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			GCACTGGAGAGAAAGGTGACT	0.567000														52			5		0	0	0.00116845	0	0
FOXI1	2299	broad.mit.edu	37	5	169535321	169535321	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:169535321C>T	uc003mai.4	+	1	888	c.843C>T	c.(841-843)ttC>ttT	p.F281F	FOXI1_uc003maj.4_Intron	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	Homo sapiens forkhead box I1 (FOXI1), transcript variant 1, mRNA.	281					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTAACAGCTTCCTTTCCTCTA	0.642000									Pendred syndrome					46			12		0	0	0.00136819	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31124435	31124435	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:31124435C>T	uc003tca.2	+	7	811	c.522C>T	c.(520-522)atC>atT	p.I174I	ADCYAP1R1_uc003tcg.3_Silent_p.I174I|ADCYAP1R1_uc003tce.2_Silent_p.I174I|ADCYAP1R1_uc003tcb.2_Silent_p.I153I|ADCYAP1R1_uc003tcc.2_Silent_p.I174I|ADCYAP1R1_uc003tcf.1_5'Flank	NM_001118	NP_001109	P41586	PACR_HUMAN	Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) receptor type I (ADCYAP1R1), transcript variant 3, mRNA.	174					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						CCATGGTCATCCTTTGTCGCT	0.572000														39			10		0	0	0.00136819	0	0
PCDH15	65217	broad.mit.edu	37	10	55583112	55583112	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:55583112G>A	uc010qhy.1	-	34	4790	c.4395C>T	c.(4393-4395)ttC>ttT	p.F1465F	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_Intron|PCDH15_uc021pqw.1_Intron|PCDH15_uc010qht.2_Intron|PCDH15_uc021pqx.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Silent_p.F1460F|PCDH15_uc021pqz.1_Silent_p.F1435F|PCDH15_uc010qhv.1_Silent_p.F1455F|PCDH15_uc010qhw.1_Silent_p.F1418F|PCDH15_uc010qhx.1_Silent_p.F1389F|PCDH15_uc010qhz.1_Silent_p.F1460F|PCDH15_uc010qia.1_Silent_p.F1438F|PCDH15_uc001jju.1_Silent_p.F1458F|PCDH15_uc010qib.1_Silent_p.F1435F	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1458					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)				GGTAGAGAAGGAAAAGACTTG	0.348000										HNSCC(58;0.16)				52			10		0	0	0.000673444	0	0
MTUS2	23281	broad.mit.edu	37	13	30066824	30066824	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr13:30066824G>A	uc001usl.4	+	9	3635	c.3577G>A	c.(3577-3579)Gaa>Aaa	p.E1193K	MTUS2_uc001usm.4_Missense_Mutation_p.E162K|MTUS2_uc010aau.3_Missense_Mutation_p.E72K	NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	1183						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						AGAATTGGAAGAAAATTTTGA	0.348000														45			12		0	0	0.00185496	0	0
ASIC4	55515	broad.mit.edu	37	2	220396802	220396802	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:220396802C>T	uc002vlz.3	+	2	1362	c.1188C>T	c.(1186-1188)ttC>ttT	p.F396F	ASIC4_uc010fwi.2_Silent_p.F396F|ASIC4_uc010fwj.2_Silent_p.F396F|ASIC4_uc002vly.2_Silent_p.F396F|ASIC4_uc002vma.3_Silent_p.F396F|ASIC4_uc002vmb.3_Silent_p.F50F	NM_018674	NP_061144	Q96FT7	ACCN4_HUMAN	Homo sapiens amiloride-sensitive cation channel 4, pituitary (ACCN4), transcript variant 1, mRNA.	396						integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity										AGCTGGGGTTCGGGGTGTCCC	0.622000														54			12		0	0	0.00185496	0	0
CST8	10047	broad.mit.edu	37	20	23472382	23472382	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr20:23472382G>A	uc002wth.1	+	1	435	c.78G>A	c.(76-78)aaG>aaA	p.K26K		NM_005492	NP_005483	O60676	CST8_HUMAN	Homo sapiens cystatin 8 (cystatin-related epididymal specific) (CST8), mRNA.	26						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(9)|skin(2)	16	Colorectal(13;0.0431)|Lung NSC(19;0.235)					ACCCAAAAAAGAATGAGACAG	0.532000														48			8		0	0	0.000274275	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147024427	147024427	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:147024427C>T	uc010jgo.1	-	4	1217	c.1069G>A	c.(1069-1071)Gaa>Aaa	p.E357K	JAKMIP2_uc003loq.1_Missense_Mutation_p.E357K|JAKMIP2_uc011dbx.1_Missense_Mutation_p.E315K|JAKMIP2_uc003lor.1_Missense_Mutation_p.E357K|LOC153469_uc003lop.1_Intron	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA.	357						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGAATTTTCCTTGGTAACG	0.408000														43			17		0	0	0.00152264	0	0
WDR36	134430	broad.mit.edu	37	5	110456205	110456205	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:110456205C>T	uc003kpd.3	+	17	2201	c.2084C>T	c.(2083-2085)tCc>tTc	p.S695F	WDR36_uc010jbu.3_Non-coding_Transcript	NM_139281	NP_644810	Q8NI36	WDR36_HUMAN	Homo sapiens WD repeat domain 36 (WDR36), mRNA.	695					rRNA processing|response to stimulus|visual perception	small-subunit processome				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		TCCAATATTTCCCTGTATTCA	0.328000														57			11		0	0	0.00185496	0	0
TNFSF14	8740	broad.mit.edu	37	19	6665134	6665134	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:6665134C>T	uc002mfk.2	-	4	908	c.526G>A	c.(526-528)Gag>Aag	p.E176K	TNFSF14_uc002mfj.2_Missense_Mutation_p.E140K	NM_003807	NP_003798	O43557	TNF14_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 14 (TNFSF14), transcript variant 1, mRNA.	176					T cell homeostasis|T cell proliferation|cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						AGCTCCAGCTCCTCGGGGTAG	0.677000														40			9		0	0	0.000442599	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457202	110457202	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr8:110457202G>A	uc003yne.3	+	37	5208	c.5104G>A	c.(5104-5106)Gtt>Att	p.V1702I		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1702	IPT/TIG 9.				immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.P1701fs*7(1)		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)			CCCATGTAAAGTTCTATCAGT	0.448000										HNSCC(38;0.096)				122			29		0	0	0.00209593	0	0
GPRIN3	285513	broad.mit.edu	37	4	90169028	90169028	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:90169028A>C	uc003hsm.1	-	1	2753	c.2234T>G	c.(2233-2235)cTc>cGc	p.L745R	GPRIN3_uc021xqb.1_Missense_Mutation_p.L745R	NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN	Homo sapiens GPRIN family member 3 (GPRIN3), mRNA.	745										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		CCTTCCTCTGAGCTTCTTATT	0.463000														68			18		0	0	0.000958276	0	0
S100A16	140576	broad.mit.edu	37	1	153580154	153580154	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:153580154C>T	uc001fcc.2	-	2	301	c.168G>A	c.(166-168)cgG>cgA	p.R56R	S100A16_uc001fcd.1_Silent_p.R56R	NM_080388	NP_525127	Q96FQ6	S10AG_HUMAN	Homo sapiens S100 calcium binding protein A16 (S100A16), mRNA.	56	EF-hand 2.					cytosol|nucleolus	calcium ion binding|protein homodimerization activity			breast(1)|large_intestine(1)|prostate(1)	3	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCGCAGCCTTCCGGTTCCCTG	0.592000														27			7		0	0	0.000157383	0	0
EPG5	57724	broad.mit.edu	37	18	43446814	43446814	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr18:43446814G>A	uc002lbm.3	-	37	6670	c.6570C>T	c.(6568-6570)ctC>ctT	p.L2190L	EPG5_uc010xcr.1_Non-coding_Transcript|EPG5_uc010xcs.1_Non-coding_Transcript|EPG5_uc010xcq.1_Silent_p.L744L|EPG5_uc002lbn.2_Silent_p.L1065L	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	Homo sapiens ectopic P-granules autophagy protein 5 homolog (C. elegans) (EPG5), mRNA.	2190					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						ACACTTTTAGGAGCTTCATGA	0.438000														122			22		0	0	0.00229938	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101834543	101834543	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:101834543G>A	uc003knn.3	-	0	178	c.6C>T	c.(4-6)ttC>ttT	p.F2F	SLCO6A1_uc003kno.3_Silent_p.F2F|SLCO6A1_uc003knp.3_Silent_p.F2F|SLCO6A1_uc003knq.3_Silent_p.F2F	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	2						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)		CGACGCCTACGAACATGGCTC	0.711000														81			11		0	0	0.00136819	0	0
KCNJ4	3761	broad.mit.edu	37	22	38823144	38823144	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr22:38823144C>T	uc003avs.1	-	1	1091	c.994G>A	c.(994-996)Gac>Aac	p.D332N	KCNJ4_uc003avt.1_Missense_Mutation_p.D332N|KCNJ4_uc021wpp.1_Missense_Mutation_p.D332N	NM_004981	NP_690607	P48050	IRK4_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 4 (KCNJ4), transcript variant 2, mRNA.	332					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	PDZ domain binding|inward rectifier potassium channel activity			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					CGTGAGTAGTCCACCTTGTAG	0.642000														20			12		0	0	0.00136819	0	0
GALNTL2	117248	broad.mit.edu	37	3	16242266	16242266	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:16242266G>A	uc003car.4	+	2	1322	c.847G>A	c.(847-849)Gat>Aat	p.D283N	GALNTL2_uc003caq.4_Missense_Mutation_p.D16N	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2 (GALNTL2), mRNA.	283	Catalytic subdomain A.					Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|breast(3)|endometrium(4)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(1)|stomach(1)	33						CGTCTTCATGGATGCCCACTG	0.612000														18			6		0	0	0.000157383	0	0
CSMD2	114784	broad.mit.edu	37	1	34209160	34209160	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:34209160G>A	uc001bxm.1	-	13	2071	c.1894C>T	c.(1894-1896)Ccc>Tcc	p.P632S	CSMD2_uc001bxn.1_Missense_Mutation_p.P592S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	592	CUB 4.					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)				GGGTAGTTGGGAGACAGGACA	0.567000														50			18		0	0	0.00121646	0	0
FRAS1	80144	broad.mit.edu	37	4	79373450	79373450	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:79373450G>A	uc003hlb.2	+	46	7145	c.6705G>A	c.(6703-6705)ttG>ttA	p.L2235L		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	2234					cell communication	integral to membrane|plasma membrane	metal ion binding	p.E2235K(1)		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						CTACAGAATTGATCTACAGAA	0.473000														17			5		0	0	0.000602214	0	0
CKAP5	9793	broad.mit.edu	37	11	46800125	46800125	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:46800125G>A	uc001ndi.2	-	20	2584	c.2458C>T	c.(2458-2460)Cca>Tca	p.P820S	CKAP5_uc009ylg.1_Missense_Mutation_p.P706S|CKAP5_uc001ndj.2_Missense_Mutation_p.P820S	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	Homo sapiens cytoskeleton associated protein 5 (CKAP5), transcript variant 1, mRNA.	820					G2/M transition of mitotic cell cycle|RNA transport|cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|mitotic prometaphase|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						CCTCTGGTTGGAGCAGGTGGA	0.428000														47			15		0	0	0.00074312	0	0
PSD4	23550	broad.mit.edu	37	2	113943574	113943574	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:113943574G>A	uc002tjc.3	+	4	1553	c.1370G>A	c.(1369-1371)gGt>gAt	p.G457D	PSD4_uc002tjd.3_Missense_Mutation_p.G78D|PSD4_uc002tje.3_Missense_Mutation_p.G428D|PSD4_uc002tjf.3_Missense_Mutation_p.G78D	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	457					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGAGGCCCTGGTCCCAGGCCC	0.622000														28			6		0	0	0.00198382	0	0
P2RY6	5031	broad.mit.edu	37	11	73007862	73007862	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:73007862G>A	uc021qnb.1	+	0	299	c.299G>A	c.(298-300)cGc>cAc	p.R100H	P2RY6_uc001otm.3_Missense_Mutation_p.R100H|P2RY6_uc001otn.3_Missense_Mutation_p.R100H|P2RY6_uc001otq.3_Missense_Mutation_p.R100H|P2RY6_uc001otr.3_Missense_Mutation_p.R100H|P2RY6_uc001ots.3_Missense_Mutation_p.R100H	NM_176798	NP_789768	Q15077	P2RY6_HUMAN	Homo sapiens pyrimidinergic receptor P2Y, G-protein coupled, 6 (P2RY6), transcript variant 2, mRNA.	100					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.R100H(4)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)	14						TTCGCCTGCCGCCTGGTCCGC	0.607000														67			13		0	0	0.00136819	0	0
KLHL23	151230	broad.mit.edu	37	2	170591665	170591666	+	Missense_Mutation	DNP	TT	GC	GC			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:170591665_170591666TT>GC	uc002ufh.2	+	3	516_517	c.141_142TT>GC	c.(139-144)attttc>atGCtc	p.47_48IF>ML	KLHL23_uc002ufi.2_Missense_Mutation_p.47_48IF>ML	NM_001199290	NP_001186219	Q8NBE8	KLH23_HUMAN	Homo sapiens PHOSPHO2-KLHL23 readthrough (PHOSPHO2-KLHL23), mRNA.	47	BTB.									breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						CAGGCATAATTTTCCATTGTCA	0.347000														142			24		0	0	6.4e-05	0	0
DOCK3	1795	broad.mit.edu	37	3	51264839	51264839	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:51264839G>A	uc011bds.2	+	15	1526	c.1503G>A	c.(1501-1503)cgG>cgA	p.R501R		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	501	DHR-1.					cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		ACCGGTTCCGGGGCTCCCACC	0.478000														42			7		0	0	0.00198382	0	0
UNC13A	23025	broad.mit.edu	37	19	17752275	17752275	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:17752275C>T	uc021uqk.1	-	20	2602	c.2560G>A	c.(2560-2562)Gat>Aat	p.D854N		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	855					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.D943N(1)|p.D855N(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GCTGTCTCATCGTAGTAAACC	0.562000														28			5		0	0	0.00116845	0	0
TTC27	55622	broad.mit.edu	37	2	33036214	33036214	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:33036214G>A	uc002rom.3	+	16	2395	c.2122G>A	c.(2122-2124)Gat>Aat	p.D708N	TTC27_uc010ymx.2_Missense_Mutation_p.D658N	NM_017735	NP_001180438	Q6P3X3	TTC27_HUMAN	Homo sapiens tetratricopeptide repeat domain 27 (TTC27), transcript variant 1, mRNA.	708							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						AGTGACAAATGATGGAGAAAT	0.458000														30			12		0	0	0.00244969	0	0
SDR42E1	93517	broad.mit.edu	37	16	82033081	82033081	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr16:82033081G>A	uc002fgu.3	-	2	945	c.817C>T	c.(817-819)Ctg>Ttg	p.L273L		NM_145168	NP_660151	Q8WUS8	D42E1_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 42E, member 1 (SDR42E1), mRNA.	273					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						GTGTAGCCCAGGCCCTCAACC	0.522000														37			5		0	0	0.00116845	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140208003	140208003	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:140208003C>T	uc003lho.2	+	0	354	c.327C>T	c.(325-327)atC>atT	p.I109I	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Silent_p.I109I|PCDHAC2_uc011dab.2_Silent_p.I109I	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	124	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.I109I(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGGTGATCGTGGACAGGC	0.557000														158			26		0	0	0.000692331	0	0
FBN2	2201	broad.mit.edu	37	5	127622428	127622428	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:127622428C>T	uc003kuu.3	-	54	7433	c.6994G>A	c.(6994-6996)Gat>Aat	p.D2332N		NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	2332	EGF-like 39; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CCTTCTCCATCGGGCCTTCGG	0.507000														26			6		0	0	0.00116845	0	0
FLT4	2324	broad.mit.edu	37	5	180051011	180051011	+	Missense_Mutation	SNP	G	A	A	rs146167161	byFrequency	TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:180051011G>A	uc003mlz.4	-	10	1551	c.1472C>T	c.(1471-1473)gCg>gTg	p.A491V	FLT4_uc003mma.4_Missense_Mutation_p.A491V|FLT4_uc003mmb.1_Missense_Mutation_p.A24V|FLT4_uc011dgy.2_Missense_Mutation_p.A491V	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	491	Ig-like C2-type 5.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	CGTGGTCACCGCCCTCCAGTC	0.637000														43			7		0	0	0.000157383	0	0
MOGAT1	116255	broad.mit.edu	37	2	223559127	223559127	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:223559127G>A	uc010fws.1	+	3	573	c.525G>A	c.(523-525)aaG>aaA	p.K175K	MOGAT1_uc010fwt.1_Silent_p.K135K	NM_058165	NP_477513	Q96PD6	MOGT1_HUMAN	Homo sapiens monoacylglycerol O-acyltransferase 1 (MOGAT1), mRNA.	175					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1)	9		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)		TGGTAAGCAAGGAGGGAGGTG	0.418000														31			13		0	0	0.00244969	0	0
KPNA6	23633	broad.mit.edu	37	1	32623923	32623923	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:32623923C>T	uc010ogy.2	+	4	429	c.402C>T	c.(400-402)ttC>ttT	p.F134F	KPNA6_uc001bug.3_Silent_p.F129F|KPNA6_uc001buh.3_5'UTR|KPNA6_uc010ogx.2_Silent_p.F126F	NM_012316	NP_036448	O60684	IMA7_HUMAN	Homo sapiens karyopherin alpha 6 (importin alpha 7) (KPNA6), mRNA.	129					NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				TGGATCGGTTCGTGGAGTTTC	0.423000														126			44		0	0	0.000781405	0	0
ZMYND19	116225	broad.mit.edu	37	9	140477021	140477022	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr9:140477021_140477022GG>AA	uc004cno.1	-	5	879_880	c.657_658CC>TT	c.(655-660)ttccag>ttTTag	p.Q220*		NM_138462	NP_612471	Q96E35	ZMY19_HUMAN	Homo sapiens zinc finger, MYND-type containing 19 (ZMYND19), mRNA.	220						Golgi apparatus|plasma membrane	zinc ion binding			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		AGCTCATGCTGGAAGGGACGCT	0.644000														40			8		0	0	6.4e-05	0	0
BAZ1A	11177	broad.mit.edu	37	14	35263973	35263973	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr14:35263973G>A	uc001wsk.3	-	10	1913	c.1345C>T	c.(1345-1347)Cct>Tct	p.P449S	BAZ1A_uc001wsl.3_Missense_Mutation_p.P449S	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 1A (BAZ1A), transcript variant 1, mRNA.	449	DDT.				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		ACTCCATCAGGAAACTCATCT	0.368000														75			11		0	0	0.000978159	0	0
GRIA2	2891	broad.mit.edu	37	4	158233926	158233926	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:158233926G>A	uc003ipm.4	+	3	1024	c.565G>A	c.(565-567)Gat>Aat	p.D189N	GRIA2_uc011cit.2_Missense_Mutation_p.D142N|GRIA2_uc021xtr.1_Missense_Mutation_p.D189N|GRIA2_uc003ipl.4_Missense_Mutation_p.D189N|GRIA2_uc003ipk.4_Missense_Mutation_p.D142N|GRIA2_uc010iqh.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	189					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TGACAAGAAAGATGAGATGTA	0.408000														24			5		0	0	0.00116845	0	0
TFRC	7037	broad.mit.edu	37	3	195799012	195799012	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:195799012T>C	uc003fvz.4	-	4	729	c.446A>G	c.(445-447)gAa>gGa	p.E149G	TFRC_uc003fwa.4_Missense_Mutation_p.E149G|TFRC_uc010hzy.3_Missense_Mutation_p.E68G|TFRC_uc011btr.2_5'UTR	NM_003234	NP_003225	P02786	TFR1_HUMAN	Homo sapiens transferrin receptor (p90, CD71) (TFRC), transcript variant 1, mRNA.	149					cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		ATATGAATTTTCATTCAGCAG	0.323000			T	BCL6	NHL									52			16		0	0	0.00074312	0	0
CAPSL	133690	broad.mit.edu	37	5	35910584	35910584	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:35910584C>T	uc003jjt.1	-	2	294	c.199G>A	c.(199-201)Ggg>Agg	p.G67R	CAPSL_uc003jju.1_Missense_Mutation_p.G67R	NM_001042625	NP_653248	Q8WWF8	CAPSL_HUMAN	Homo sapiens calcyphosine-like (CAPSL), transcript variant 2, mRNA.	67	EF-hand 1.					cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			TCATTTAACCCTTTCATAAAT	0.318000														69			11		0	0	0.000978159	0	0
SURF6	6838	broad.mit.edu	37	9	136201322	136201322	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr9:136201322C>T	uc004cdb.4	-	1	288	c.210G>A	c.(208-210)ttG>ttA	p.L70L		NM_006753	NP_006744	O75683	SURF6_HUMAN	Homo sapiens surfeit 6 (SURF6), mRNA.	70						granular component	DNA binding|RNA binding			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	12				OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)		ATTTCTCCCCCAAGGACTTGG	0.557000														63			13		0	0	0.00244969	0	0
MFI2	4241	broad.mit.edu	37	3	196737642	196737642	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:196737642G>A	uc003fxk.4	-	9	1371	c.1257C>T	c.(1255-1257)acC>acT	p.T419T		NM_005929	NP_005920	P08582	TRFM_HUMAN	Homo sapiens antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5 (MFI2), transcript variant 1, mRNA.	419	Transferrin-like 2.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		CGCCACTCAGGGTCACAGCGT	0.667000														21			6		0	0	0.00198382	0	0
YPEL5	51646	broad.mit.edu	37	2	30379532	30379532	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:30379532C>T	uc002rna.4	+	3	576	c.15C>T	c.(13-15)ttC>ttT	p.F5F	YPEL5_uc002rnb.4_Silent_p.F5F|YPEL5_uc002rnc.4_Silent_p.F5F|YPEL5_uc002rmz.4_Silent_p.F5F|YPEL5_uc010ezn.3_Intron|YPEL5_uc002rnd.3_Silent_p.F5F	NM_001127401	NP_057145	P62699	YPEL5_HUMAN	Homo sapiens yippee-like 5 (Drosophila) (YPEL5), transcript variant 1, mRNA.	5							peptide-methionine-(S)-S-oxide reductase activity	p.F5F(2)		NS(1)|endometrium(1)|kidney(1)|lung(3)|prostate(1)	7	Acute lymphoblastic leukemia(172;0.155)					GCAGAATTTTCCTTGATCATA	0.418000														95			12		0	0	0.00244969	0	0
LRBA	987	broad.mit.edu	37	4	151791753	151791753	+	Silent	SNP	A	G	G			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:151791753A>G	uc010ipj.3	-	19	2617	c.2373T>C	c.(2371-2373)ctT>ctC	p.L791L	LRBA_uc003ilu.4_Silent_p.L791L	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	791						Golgi apparatus|endoplasmic reticulum|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)					TCTGTTCTATAAGAATCTACA	0.308000														53			7		0	0	0.00198382	0	0
SGOL1	151648	broad.mit.edu	37	3	20219763	20219763	+	Splice_Site	SNP	G	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:20219763G>T	uc003cbu.3	-	4	571	c.416_splice	c.e4+1	p.P139_splice	SGOL1_uc003cbw.3_Splice_Site_p.P139_splice|SGOL1_uc003cbv.3_Splice_Site_p.P139_splice|SGOL1_uc003cbt.3_Splice_Site_p.P139_splice|SGOL1_uc010hfa.3_Splice_Site_p.P139_splice|SGOL1_uc003cbs.3_Splice_Site_p.P139_splice|SGOL1_uc003cbr.3_Splice_Site_p.P139_splice|SGOL1_uc003ccc.3_Splice_Site_p.P139_splice|SGOL1_uc021wtx.1_Splice_Site_p.P18_splice|SGOL1_uc021wty.1_Splice_Site_p.P18_splice|SGOL1_uc003ccb.3_Splice_Site_p.P139_splice|SGOL1_uc003cca.3_Splice_Site_p.P139_splice|SGOL1_uc003cby.3_Splice_Site_p.P139_splice|SGOL1_uc003cbx.3_Splice_Site_p.P139_splice|SGOL1_uc003cbz.3_Splice_Site_p.P139_splice	NM_001012410	NP_001186181	Q5FBB7	SGOL1_HUMAN	Homo sapiens shugoshin-like 1 (S. pombe) (SGOL1), transcript variant A2, mRNA.	139	Necessary for interaction with PPP2CA and PPP2R1A.				attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						TGATACTAACGGTAAATCCTT	0.303000														99			8		1.12685e-05	5.546e-05	0.000274275	1	0
ZNF628	89887	broad.mit.edu	37	19	55994798	55994798	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:55994798C>T	uc021vbv.1	+	0	2226	c.2226C>T	c.(2224-2226)ccC>ccT	p.P742P	ZNF628_uc002qld.2_Silent_p.P742P|NAT14_uc002qle.2_5'Flank	NM_033113	NP_149104	Q5EBL2	ZN628_HUMAN	Homo sapiens zinc finger protein 628 (ZNF628), mRNA.	742						nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		TCCTGCTGCCCTCCTCCAGTG	0.731000														9			4		0	0	0.000602214	0	0
COL22A1	169044	broad.mit.edu	37	8	139672713	139672713	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr8:139672713C>T	uc003yvd.3	-	43	3698	c.3251G>A	c.(3250-3252)gGa>gAa	p.G1084E	COL22A1_uc011ljo.2_Missense_Mutation_p.G364E	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	1084	Collagen-like 9.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TCCTGGATTTCCTGGTGCACC	0.463000										HNSCC(7;0.00092)				37			7		0	0	0.000157383	0	0
OR10G2	26534	broad.mit.edu	37	14	22102213	22102213	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr14:22102213G>A	uc010tmc.2	-	0	786	c.786C>T	c.(784-786)ttC>ttT	p.F262F		NM_001005466	NP_001005466	Q8NGC3	O10G2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 2 (OR10G2), mRNA.	262					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)		TAAGGTAGATGAAAATACAGG	0.547000														41			7		0	0	0.000157383	0	0
SIAH3	283514	broad.mit.edu	37	13	46357980	46357980	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr13:46357980C>T	uc001vap.3	-	1	430	c.348G>A	c.(346-348)tgG>tgA	p.W116*		NM_198849	NP_942146	Q8IW03	SIAH3_HUMAN	Homo sapiens seven in absentia homolog 3 (Drosophila) (SIAH3), mRNA.	116					multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding			large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						GGCGGCCTTCCCACTGGCAGG	0.667000														47			12		0	0	0.000308642	0	0
CDH2	1000	broad.mit.edu	37	18	25565542	25565542	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr18:25565542G>A	uc002kwg.2	-	11	2384	c.1925C>T	c.(1924-1926)cCt>cTt	p.P642L	CDH2_uc010xbn.1_Missense_Mutation_p.P611L	NM_001792	NP_001783	P19022	CADH2_HUMAN	Homo sapiens cadherin 2, type 1, N-cadherin (neuronal) (CDH2), mRNA.	642	Cadherin 5.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	p.P642T(1)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TGGAGATAAAGGAAGATCAAA	0.368000														43			12		0	0	0.00244969	0	0
TEX13A	56157	broad.mit.edu	37	X	104464113	104464113	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chrX:104464113C>T	uc004ema.3	-	3	869	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K	IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.3_Silent_p.R255R	NM_031274	NP_112564	Q9BXU3	TX13A_HUMAN	Homo sapiens testis expressed 13A (TEX13A), mRNA.	255						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						GTGTACTTTTCCTGATCAGCA	0.577000														16			5		0	0	0.000602214	0	0
C8orf46	254778	broad.mit.edu	37	8	67428239	67428239	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr8:67428239G>A	uc003xwg.3	+	5	945	c.552G>A	c.(550-552)cgG>cgA	p.R184R	C8orf46_uc003xwh.3_Non-coding_Transcript|C8orf46_uc011let.2_3'UTR|C8orf46_uc003xwi.3_Silent_p.R49R	NM_152765	NP_689978	Q8TAG6	CH046_HUMAN	Homo sapiens chromosome 8 open reading frame 46 (C8orf46), mRNA.	184										endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(2)	6			Epithelial(68;0.0224)|BRCA - Breast invasive adenocarcinoma(89;0.0508)|all cancers(69;0.0558)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			GCATCCTCCGGAAAATGTGGA	0.547000														28			5		0	0	0.000602214	0	0
KIFC1	3833	broad.mit.edu	37	6	33374649	33374649	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:33374649C>T	uc003oef.4	+	9	2424	c.1974C>T	c.(1972-1974)tcC>tcT	p.S658S	KIFC1_uc011drf.2_Silent_p.S650S	NM_002263	NP_002254	Q9BW19	KIFC1_HUMAN	Homo sapiens kinesin family member C1 (KIFC1), mRNA.	658					blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						GCTTTGCCTCCAAGGTGCGAT	0.517000														35			5		0	0	0.000602214	0	0
C14orf102	55051	broad.mit.edu	37	14	90745472	90745472	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr14:90745472G>A	uc001xyi.2	-	12	3536	c.3303C>T	c.(3301-3303)tcC>tcT	p.S1101S	C14orf102_uc010atp.1_Silent_p.S606S|C14orf102_uc001xyj.2_Silent_p.S870S	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	Homo sapiens chromosome 14 open reading frame 102 (C14orf102), mRNA.	1101							protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(10)|lung(12)|ovary(5)|prostate(2)|upper_aerodigestive_tract(1)	39		all_cancers(154;0.118)		COAD - Colon adenocarcinoma(157;0.218)		TATTTCCTAAGGAAACCTGAG	0.468000														77			21		0	0	0.00152264	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161018272	161018272	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:161018272C>T	uc001fxl.3	-	11	2885	c.2539G>A	c.(2539-2541)Gga>Aga	p.G847R	USF1_uc001fxj.3_5'Flank|USF1_uc001fxi.3_5'Flank|ARHGAP30_uc001fxk.3_Intron|ARHGAP30_uc001fxm.3_Missense_Mutation_p.G693R|ARHGAP30_uc009wtx.3_Missense_Mutation_p.G520R	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA.	847	Glu-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CTCTGGTCTCCCTCAGCCTCT	0.572000														112			32		0	0	0.000814825	0	0
BRF2	55290	broad.mit.edu	37	8	37704688	37704688	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr8:37704688G>A	uc003xkk.3	-	2	350	c.220C>T	c.(220-222)Cgg>Tgg	p.R74W		NM_018310	NP_060780	Q9HAW0	BRF2_HUMAN	Homo sapiens BRF2, subunit of RNA polymerase III transcription initiation factor, BRF1-like (BRF2), mRNA.	74					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)			CTCACTCGCCGGAGACCTAGG	0.502000														29			7		0	0	0.000157383	0	0
PACRG	135138	broad.mit.edu	37	6	163483306	163483307	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:163483306_163483307GG>AA	uc003qua.3	+	3	640_641	c.416_417GG>AA	c.(415-417)ggg>gAA	p.G139E	PACRG_uc003qub.3_Missense_Mutation_p.G139E|PACRG_uc003quc.3_Missense_Mutation_p.G139E	NM_152410	NP_689623	Q96M98	PACRG_HUMAN	Homo sapiens PARK2 co-regulated (PACRG), transcript variant 1, mRNA.	139										endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		GAACACGGTGGGAACAAGATCC	0.431000														21			6		0	0	6.4e-05	0	0
MYH8	4626	broad.mit.edu	37	17	10304459	10304459	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:10304459C>T	uc002gmm.2	-	24	3253	c.3158G>A	c.(3157-3159)aGa>aAa	p.R1053K	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1053					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin 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						CCGCTTTGCTCTTTCTAGATC	0.348000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					54			15		0	0	0.00244969	0	0
ADH1B	125	broad.mit.edu	37	4	100239275	100239275	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:100239275G>A	uc003hus.4	-	2	271	c.187C>T	c.(187-189)Cct>Tct	p.P63S	ADH1B_uc003hut.4_Missense_Mutation_p.P23S|ADH1B_uc011ceh.2_5'UTR|ADH1B_uc011cei.1_Missense_Mutation_p.P23S	NM_000668	NP_000659	P00325	ADH1B_HUMAN	Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA.	63					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)	AAAATCACAGGAAGGGGGGTC	0.507000														44			6		0	0	0.00116845	0	0
FAT4	79633	broad.mit.edu	37	4	126398441	126398441	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:126398441G>A	uc003ifj.4	+	12	12425	c.12425G>A	c.(12424-12426)aGg>aAg	p.R4142K	FAT4_uc011cgp.2_Missense_Mutation_p.R2405K|FAT4_uc003ifi.1_Missense_Mutation_p.R1620K	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4142	Laminin G-like 1.				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						GTCAATGGAAGGCCTCTGGAA	0.413000														91			17		0	0	0.000566183	0	0
C16orf82	162083	broad.mit.edu	37	16	27078340	27078340	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr16:27078340C>T	uc010vcm.2	+	0	122	c.21C>T	c.(19-21)ccC>ccT	p.P7P		NM_001145545	NP_001139017	Q7Z2V1	TNT_HUMAN	Homo sapiens chromosome 16 open reading frame 82 (C16orf82), mRNA.	71																	TTCAGCTGCCCCCCATTTTTC	0.567000														20			7		0	0	0.000274275	0	0
ARMC12	221481	broad.mit.edu	37	6	35715079	35715079	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:35715079G>A	uc003ola.3	+	3	594	c.567G>A	c.(565-567)tgG>tgA	p.W189*	ARMC12_uc003olb.1_Nonsense_Mutation_p.W162*	NM_145028	NP_659465	Q5T9G4	CF081_HUMAN	Homo sapiens armadillo repeat containing 12 (ARMC12), mRNA.	162							binding										CCACCATCTGGGACACGGAAC	0.532000														67			8		0	0	0.000978159	0	0
SLC14A2	8170	broad.mit.edu	37	18	43221247	43221247	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr18:43221247C>T	uc002lbe.3	+	7	1881	c.1065C>T	c.(1063-1065)atC>atT	p.I355I	SLC14A2_uc002lbb.3_Silent_p.I355I|SLC14A2_uc010dnj.3_Silent_p.I355I	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	355						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCTCCTGCATCGCCATCGGAG	0.552000														29			10		0	0	0.000442599	0	0
AMDHD1	144193	broad.mit.edu	37	12	96348739	96348739	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:96348739G>A	uc001tel.2	+	2	401	c.295G>A	c.(295-297)Gaa>Aaa	p.E99K	AMDHD1_uc009zth.2_Intron	NM_152435	NP_689648	Q96NU7	HUTI_HUMAN	Homo sapiens amidohydrolase domain containing 1 (AMDHD1), mRNA.	99					histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						AAGAGTTCACGAATTTGCAAT	0.358000														38			9		0	0	0.00136819	0	0
CD248	57124	broad.mit.edu	37	11	66083678	66083679	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:66083678_66083679GG>AA	uc001ohm.1	-	0	837_838	c.820_821CC>TT	c.(820-822)ccc>TTc	p.P274F		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	Homo sapiens CD248 molecule, endosialin (CD248), mRNA.	274						integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	CTGGGCACAGGGGTCCTCGCAA	0.673000														20			5		0	0	6.4e-05	0	0
CACNA1C	775	broad.mit.edu	37	12	2693694	2693694	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:2693694C>T	uc009zdu.1	+	15	2563	c.2250C>T	c.(2248-2250)gcC>gcT	p.A750A	CACNA1C_uc001qkc.2_Silent_p.A750A|CACNA1C_uc001qjz.2_Silent_p.A750A|CACNA1C_uc001qkd.2_Silent_p.A750A|CACNA1C_uc001qke.2_Silent_p.A750A|CACNA1C_uc001qkf.2_Silent_p.A750A|CACNA1C_uc009zdw.1_Silent_p.A750A|CACNA1C_uc001qkg.2_Silent_p.A750A|CACNA1C_uc001qkh.2_Silent_p.A750A|CACNA1C_uc001qkl.2_Silent_p.A750A|CACNA1C_uc001qkj.2_Silent_p.A750A|CACNA1C_uc001qkk.2_Silent_p.A750A|CACNA1C_uc001qkn.2_Silent_p.A750A|CACNA1C_uc001qkm.2_Silent_p.A750A|CACNA1C_uc001qko.2_Silent_p.A750A|CACNA1C_uc001qkp.2_Silent_p.A750A|CACNA1C_uc001qkq.2_Silent_p.A750A|CACNA1C_uc001qku.2_Silent_p.A750A|CACNA1C_uc001qkr.2_Silent_p.A750A|CACNA1C_uc001qks.2_Silent_p.A750A|CACNA1C_uc001qkt.2_Silent_p.A750A|CACNA1C_uc009zdv.1_Silent_p.A747A|CACNA1C_uc001qkb.2_Silent_p.A750A|CACNA1C_uc001qka.1_Silent_p.A285A|CACNA1C_uc001qki.1_Silent_p.A486A	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	750					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)	TGTTCTTGGCCATTGCTGTGG	0.512000														28			6		0	0	0.00116845	0	0
ITIH3	3699	broad.mit.edu	37	3	52836407	52836407	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:52836407G>A	uc003dfv.2	+	11	1477	c.1441G>A	c.(1441-1443)Gag>Aag	p.E481K	ITIH3_uc011bek.1_Missense_Mutation_p.E481K	NM_002217	NP_002208	Q06033	ITIH3_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 3 (ITIH3), mRNA.	481					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		GGAGTACCCCGAGAACGCTAT	0.602000														22			4		0	0	0.00024832	0	0
TRIM3	10612	broad.mit.edu	37	11	6477301	6477301	+	Splice_Site	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:6477301C>T	uc001mdh.3	-	8	1929	c.1533_splice	c.e8+1	p.Q511_splice	TRIM3_uc001mdi.3_Splice_Site_p.Q511_splice|TRIM3_uc010raj.2_Splice_Site_p.Q392_splice|TRIM3_uc009yfd.3_Splice_Site_p.Q511_splice|TRIM3_uc010rak.1_Splice_Site_p.Q511_splice	NM_006458	NP_006449	O75382	TRIM3_HUMAN	Homo sapiens tripartite motif containing 3 (TRIM3), transcript variant 1, mRNA.	511					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAGGTGCTTACCTGAATACAC	0.488000														33			6		0	0	0.00198382	0	0
OR5M1	390168	broad.mit.edu	37	11	56380970	56380970	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:56380970G>A	uc001nja.1	-	0	9	c.9C>T	c.(7-9)tcC>tcT	p.S3S	OR8U8_uc001nit.2_Intron	NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 1 (OR5M1), mRNA.	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						TGTGGTTTGGGGAGAACATCT	0.413000														28			5		0	0	0.000602214	0	0
ALPK2	115701	broad.mit.edu	37	18	56246161	56246161	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr18:56246161T>A	uc002lhj.4	-	3	2061	c.1847A>T	c.(1846-1848)cAa>cTa	p.Q616L		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	616							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TGTTGAAGTTTGAAGGGTTTT	0.468000											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		78			12		0	0	0.000978159	0	0
GRIA2	2891	broad.mit.edu	37	4	158257893	158257893	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:158257893C>T	uc003ipm.4	+	10	2297	c.1838C>T	c.(1837-1839)tCg>tTg	p.S613L	GRIA2_uc011cit.2_Missense_Mutation_p.S566L|GRIA2_uc003ipl.4_Missense_Mutation_p.S613L|GRIA2_uc003ipk.4_Missense_Mutation_p.S566L|GRIA2_uc010iqh.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	613					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TGCGATATTTCGCCAAGGTTG	0.413000														56			8		0	0	0.000442599	0	0
BOD1L1	259282	broad.mit.edu	37	4	13604640	13604640	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:13604640G>A	uc003gmz.1	-	9	4001	c.3884C>T	c.(3883-3885)tCg>tTg	p.S1295L	BOD1L1_uc010idr.1_Missense_Mutation_p.S632L	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	Homo sapiens biorientation of chromosomes in cell division 1-like (BOD1L), mRNA.	1295							DNA binding										TGGATCATACGATTCCCTCAG	0.463000														38			6		0	0	0.00116845	0	0
P4HA3	283208	broad.mit.edu	37	11	74013503	74013503	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:74013503G>A	uc010rrj.2	-	2	521	c.478C>T	c.(478-480)Cag>Tag	p.Q160*	P4HA3_uc001ouy.4_Non-coding_Transcript|P4HA3_uc001ouz.3_Nonsense_Mutation_p.Q160*			Q7Z4N8	P4HA3_HUMAN	Homo sapiens prolyl 4-hydroxylase, alpha polypeptide III (P4HA3), mRNA.	160						endoplasmic reticulum lumen	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					GTGACTCTCTGAAAGACACCT	0.547000														74			19		0	0	0.00152264	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453137	+	Missense_Mutation	DNP	AC	TT	TT	rs121913377		TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:140453136_140453137AC>TT	uc003vwc.4	-	14	1859_1860	c.1798_1799GT>AA	c.(1798-1800)gtg>AAg	p.V600K		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600M(43)|p.V600D(40)|p.V600L(37)|p.V600_K601>E(30)|p.V600A(24)|p.V600G(22)|p.T599_V600insT(9)|p.A598_T599insV(7)|p.T599I(5)|p.V600Q(4)|p.T599_V600>IAL(4)|p.T599_R603>I(4)|p.T599_V600insTT(4)|p.T599_V600insDFGLAT(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAGA	0.366000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)|V600M(IGR1_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					39			26		0	0	6.4e-05	0	0
DCHS1	8642	broad.mit.edu	37	11	6662608	6662608	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:6662608G>A	uc001mem.1	-	1	638	c.237C>T	c.(235-237)ttC>ttT	p.F79F		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	79	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGCAGAGATGAAGTACATGA	0.627000														16			6		0	0	0.00198382	0	0
ZNF426	79088	broad.mit.edu	37	19	9646888	9646888	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:9646888G>A	uc002mlq.3	-	2	285	c.21C>T	c.(19-21)tcC>tcT	p.S7S	ZNF426_uc010dws.3_5'UTR|OR7D2_uc002mlr.3_5'Flank|OR7D2_uc002mls.3_5'Flank	NM_024106	NP_077011	Q9BUY5	ZN426_HUMAN	Homo sapiens zinc finger protein 426 (ZNF426), mRNA.	7					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						GCTTACCATGGGACAAATCAG	0.463000														33			10		0	0	0.000673444	0	0
FAM75C2	645961	broad.mit.edu	37	9	90746341	90746341	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr9:90746341C>T	uc011lti.2	-	3	1640	c.1611G>A	c.(1609-1611)ggG>ggA	p.G537G		NM_001166137	NP_001159609	B4DYI2	B4DYI2_HUMAN	Homo sapiens family with sequence similarity 75, member C2 (FAM75C2), mRNA.	537																	CCAGAACCTTCCCTGGGAAGC	0.542000														62			13		0	0	0.000308642	0	0
LAMB4	22798	broad.mit.edu	37	7	107703302	107703302	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:107703302C>T	uc010ljo.1	-	22	3283	c.3199G>A	c.(3199-3201)Gga>Aga	p.G1067R	LAMB4_uc003vey.2_Missense_Mutation_p.G1067R|LAMB4_uc010ljp.1_Missense_Mutation_p.G36R	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	1067	Laminin EGF-like 11.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TTCCAGTATCCATCAGCACAA	0.557000														26			11		0	0	0.000978159	0	0
KIAA1549	57670	broad.mit.edu	37	7	138566161	138566161	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:138566161G>A	uc011kql.2	-	10	4251	c.4202C>T	c.(4201-4203)cCt>cTt	p.P1401L	KIAA1549_uc011kqi.2_Missense_Mutation_p.P185L|KIAA1549_uc011kqk.2_Missense_Mutation_p.P185L|KIAA1549_uc011kqj.2_Missense_Mutation_p.P1401L	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	1401						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						ATTCTTGGAAGGGATCTTTGA	0.473000			O	BRAF	pilocytic astrocytoma									97			17		0	0	0.000566183	0	0
AMICA1	120425	broad.mit.edu	37	11	118085557	118085557	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:118085557G>A	uc001psk.2	-	1	199	c.25C>T	c.(25-27)Ctg>Ttg	p.L9L	AMICA1_uc001psh.2_5'Flank|AMICA1_uc009yzw.1_5'Flank|AMICA1_uc001psi.2_5'Flank|AMICA1_uc010rxw.1_Intron|AMICA1_uc010rxx.1_Silent_p.L9L|AMICA1_uc001psl.1_5'Flank	NM_001098526	NP_001091996	Q86YT9	JAML1_HUMAN	Homo sapiens adhesion molecule, interacts with CXADR antigen 1 (AMICA1), transcript variant 1, mRNA.	9					blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane				central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		ACTGGCAGCAGGATGAGTTTC	0.363000														67			12		0	0	0.00244969	0	0
COLQ	8292	broad.mit.edu	37	3	15507869	15507869	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:15507869G>A	uc003bzx.3	-	11	919	c.793C>T	c.(793-795)Ccc>Tcc	p.P265S	COLQ_uc003bzv.3_Missense_Mutation_p.P255S|COLQ_uc010heo.3_Missense_Mutation_p.P231S|COLQ_uc003cad.1_Non-coding_Transcript|COLQ_uc003cae.1_Missense_Mutation_p.P124S	NM_005677	NP_005668	Q9Y215	COLQ_HUMAN	Homo sapiens collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase (COLQ), transcript variant I, mRNA.	265	Collagen-like 1.				acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						GGGCCTGGGGGCCCCGGACGG	0.617000														34			7		0	0	0.000157383	0	0
GRIN2A	2903	broad.mit.edu	37	16	10273953	10273953	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr16:10273953G>A	uc010uym.2	-	2	626	c.316C>T	c.(316-318)Cag>Tag	p.Q106*	GRIN2A_uc002czo.4_Nonsense_Mutation_p.Q106*|GRIN2A_uc002czr.4_Nonsense_Mutation_p.Q106*|GRIN2A_uc010buk.3_Nonsense_Mutation_p.Q106*	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	106					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|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)	ACGGCCTCCTGGTCCGTGTCG	0.602000														52			12		0	0	0.00244969	0	0
PASD1	139135	broad.mit.edu	37	X	150839561	150839561	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chrX:150839561G>A	uc004fev.4	+	11	1455	c.1123G>A	c.(1123-1125)Gaa>Aaa	p.E375K		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	375						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)					CCAGGAACTGGAACTGATGAA	0.443000														61			20		0	0	0.00188189	0	0
FBN1	2200	broad.mit.edu	37	15	48704768	48704768	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr15:48704768C>T	uc001zwx.2	-	64	8619	c.8224G>A	c.(8224-8226)Gag>Aag	p.E2742K	FBN1_uc010beo.2_Non-coding_Transcript	NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	2742					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TGACCCACCTCGATATTGGAG	0.498000														41			11		0	0	0.00185496	0	0
BCAS1	8537	broad.mit.edu	37	20	52601928	52601928	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr20:52601928C>T	uc002xws.2	-	6	1376	c.1038G>A	c.(1036-1038)tcG>tcA	p.S346S	BCAS1_uc010zza.1_Silent_p.S104S|BCAS1_uc010zzb.1_Silent_p.S294S|BCAS1_uc010gim.2_Silent_p.S294S|BCAS1_uc002xwt.2_Silent_p.S346S|BCAS1_uc010gil.1_Silent_p.S346S	NM_003657	NP_003648	O75363	BCAS1_HUMAN	Homo sapiens breast carcinoma amplified sequence 1 (BCAS1), mRNA.	346						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			GTGTGTGCCCCGATGGGTTGC	0.532000														72			26		0	0	0.001512	0	0
ACP5	54	broad.mit.edu	37	19	11687164	11687164	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:11687164G>A	uc002msg.4	-	3	775	c.629C>T	c.(628-630)tCc>tTc	p.S210F	ACP5_uc002msh.4_Missense_Mutation_p.S210F|ACP5_uc002msi.4_Missense_Mutation_p.S210F|ACP5_uc002msj.4_Missense_Mutation_p.S210F	NM_001611	NP_001602	P13686	PPA5_HUMAN	Homo sapiens acid phosphatase 5, tartrate resistant (ACP5), transcript variant 4, mRNA.	210					water-soluble vitamin metabolic process	cytosol|integral to membrane|lysosome	acid phosphatase activity|ferric iron binding|ferrous iron binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	9						CTCGGCTATGGACCACACGGG	0.647000														14			7		0	0	0.000157383	0	0
KERA	11081	broad.mit.edu	37	12	91449292	91449292	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:91449292G>A	uc001tbl.3	-	1	1386	c.767C>T	c.(766-768)tCa>tTa	p.S256L		NM_007035	NP_008966	O60938	KERA_HUMAN	Homo sapiens keratocan (KERA), mRNA.	256					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						AAATCCTCTTGATGGGAGACC	0.393000														24			6		0	0	0.00116845	0	0
KIR3DL3	115653	broad.mit.edu	37	19	55247512	55247512	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:55247512C>T	uc002qgu.1	+	7	1200	c.1182C>T	c.(1180-1182)atC>atT	p.I394I	KIR2DL1_uc002qgx.3_5'Flank|KIR2DL1_uc010erw.1_5'Flank	NM_153443	NP_703144	Q8N743	KI3L3_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3 (KIR3DL3), mRNA.	394						integral to membrane|plasma membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		AGAGAAAAATCACTCGCCCTT	0.507000														58			18		0	0	0.00047179	0	0
GIMAP2	26157	broad.mit.edu	37	7	150390337	150390337	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:150390337G>A	uc003who.3	+	2	1051	c.963G>A	c.(961-963)atG>atA	p.M321I		NM_015660	NP_056475	Q9UG22	GIMA2_HUMAN	Homo sapiens GTPase, IMAP family member 2 (GIMAP2), mRNA.	321						integral to membrane	GTP binding	p.L320V(1)		kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAAAGTTAATGATATTTTTGA	0.328000														34			13		0	0	0.00244969	0	0
OR5J2	282775	broad.mit.edu	37	11	55944456	55944456	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:55944456C>T	uc010rjb.2	+	0	363	c.363C>T	c.(361-363)gaC>gaT	p.D121D		NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily J, member 2 (OR5J2), mRNA.	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					TGGCCTATGACCGCTATGTGG	0.453000														59			13		0	0	0.00185496	0	0
SLC34A2	10568	broad.mit.edu	37	4	25664130	25664130	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:25664130C>T	uc003grr.3	+	1	89	c.8C>T	c.(7-9)cCc>cTc	p.P3L	SLC34A2_uc003grs.3_Missense_Mutation_p.P3L|SLC34A2_uc010iev.3_Missense_Mutation_p.P3L	NM_006424	NP_006415	O95436	NPT2B_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA.	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)				ACCATGGCTCCCTGGCCTGAA	0.532000			T	ROS1	NSCLC									34			4		0	0	0.00024832	0	0
OVGP1	5016	broad.mit.edu	37	1	111965562	111965562	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:111965562G>A	uc001eba.3	-	5	651	c.595C>T	c.(595-597)Cgc>Tgc	p.R199C	OVGP1_uc001eaz.3_Missense_Mutation_p.R161C|OVGP1_uc010owb.2_5'UTR	NM_002557	NP_002548	Q12889	OVGP1_HUMAN	Homo sapiens oviductal glycoprotein 1, 120kDa (OVGP1), mRNA.	199					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CCTAGAAAGCGCACATCATAG	0.562000														83			20		0	0	0.00278032	0	0
DPYD	1806	broad.mit.edu	37	1	97547999	97547999	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:97547999G>A	uc001drv.3	-	21	2931	c.2794C>T	c.(2794-2796)Ctt>Ttt	p.L932F		NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	932					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	AATGTTCCAAGGTACTGCAGT	0.348000														67			11		0	0	0.00185496	0	0
COL1A2	1278	broad.mit.edu	37	7	94033878	94033878	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:94033878G>A	uc003ung.1	+	6	761	c.290G>A	c.(289-291)gGa>gAa	p.G97E	COL1A2_uc011kib.1_Missense_Mutation_p.G97E|COL1A2_uc022ahm.1_5'Flank|COL1A2_uc010lfh.1_5'Flank	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	97					Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GGCTTAATGGGACCTAGAGGC	0.443000										HNSCC(75;0.22)				30			24		0	0	0.000878237	0	0
ESYT3	83850	broad.mit.edu	37	3	138170899	138170899	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:138170899C>T	uc003esk.3	+	1	563	c.337C>T	c.(337-339)Ccg>Tcg	p.P113S	ESYT3_uc010hug.2_Non-coding_Transcript	NM_031913	NP_114119	A0FGR9	ESYT3_HUMAN	Homo sapiens extended synaptotagmin-like protein 3 (ESYT3), mRNA.	113						integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						GATCCACTTCCCGGACGTGGA	0.667000														93			24		0	0	0.00178596	0	0
ATP10D	57205	broad.mit.edu	37	4	47589102	47589102	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:47589102G>A	uc003gxk.1	+	21	3984	c.3820G>A	c.(3820-3822)Gga>Aga	p.G1274R	ATP10D_uc003gxl.1_Missense_Mutation_p.G522R	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	1274					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CATAGTTTTTGGAGCCATGTG	0.418000														64			11		0	0	0.000978159	0	0
OR14A16	284532	broad.mit.edu	37	1	247978629	247978629	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:247978629C>T	uc001idm.1	-	0	403	c.403G>A	c.(403-405)Gac>Aac	p.D135N		NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily A, member 16 (OR14A16), mRNA.	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D135Y(2)		breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						GTGCTCCTGTCCATGATGACA	0.517000														36			14		0	0	0.000566183	0	0
mir-34	0	broad.mit.edu	37	1	9211863	9211863	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:9211863G>A	uc009vmq.3	-	1	418	c.312C>T	c.(310-312)ccC>ccT	p.P104P	mir-34_uc021ofw.1_5'Flank					Homo sapiens microRNA mir-34.																		AGGGGACTCGGGGGACAGGCC	0.562000														39			8		0	0	0.000157383	0	0
CNGB3	54714	broad.mit.edu	37	8	87660058	87660058	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr8:87660058G>A	uc003ydx.3	-	7	1009	c.961C>T	c.(961-963)Cca>Tca	p.P321S	CNGB3_uc010maj.3_Missense_Mutation_p.P183S	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	321					signal transduction|visual perception	integral to membrane	cGMP binding			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						CTAAACATTGGATTAAACCCA	0.303000														53			8		0	0	0.000978159	0	0
NPBWR2	2832	broad.mit.edu	37	20	62737326	62737326	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr20:62737326C>T	uc011abt.2	-	0	859	c.859G>A	c.(859-861)Gac>Aac	p.D287N		NM_005286	NP_005277	P48146	NPBW2_HUMAN	Homo sapiens neuropeptides B/W receptor 2 (NPBWR2), mRNA.	287						plasma membrane	opioid receptor activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					TGGGGCAGGTCCGTGGTCAGG	0.637000														29			10		0	0	0.000673444	0	0
ADAM22	53616	broad.mit.edu	37	7	87785277	87785277	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:87785277C>T	uc003ujn.3	+	21	2078	c.1863C>T	c.(1861-1863)atC>atT	p.I621I	ADAM22_uc003ujk.2_Silent_p.I621I|ADAM22_uc003ujl.2_Silent_p.I621I|ADAM22_uc003ujm.3_Silent_p.I621I|ADAM22_uc003ujo.3_Silent_p.I621I|ADAM22_uc003ujp.1_Silent_p.I673I	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	Homo sapiens ADAM metallopeptidase domain 22 (ADAM22), transcript variant 1, mRNA.	621	Cys-rich.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			ATGGTGAAATCACATCTACTT	0.378000														33			20		0	0	0.00152264	0	0
OR14I1	401994	broad.mit.edu	37	1	248845033	248845033	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:248845033G>A	uc001ieu.1	-	0	573	c.573C>T	c.(571-573)ttC>ttT	p.F191F		NM_001004734	NP_001004734	A6ND48	O14I1_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily I, member 1 (OR14I1), mRNA.	191					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						ACTCTACAAAGAAAACCTCAC	0.483000														29			6		0	0	0.00198382	0	0
GRM6	2916	broad.mit.edu	37	5	178408731	178408731	+	Missense_Mutation	SNP	C	T	T	rs145110689		TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:178408731C>T	uc003mjr.3	-	9	2740	c.2561G>A	c.(2560-2562)cGa>cAa	p.R854Q	GRM6_uc003mjq.3_Missense_Mutation_p.R257Q	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	854					detection of visible light|visual perception	integral to plasma membrane		p.R854*(1)		NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GCTCCGCTTTCGCTTCTGCAC	0.612000														56			14		0	0	0.00244969	0	0
SLFN11	91607	broad.mit.edu	37	17	33680383	33680383	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:33680383C>T	uc002hjg.4	-	3	2141	c.1894G>A	c.(1894-1896)Gaa>Aaa	p.E632K	SLFN11_uc010ctr.3_Missense_Mutation_p.E632K|SLFN11_uc010ctp.3_Missense_Mutation_p.E632K|SLFN11_uc010ctq.3_Missense_Mutation_p.E632K|SLFN11_uc002hjh.4_Missense_Mutation_p.E632K	NM_152270	NP_689483	Q7Z7L1	SLN11_HUMAN	Homo sapiens schlafen family member 11 (SLFN11), transcript variant 5, mRNA.	632						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGCTGGTTTTCACAAACGTAG	0.428000														40			9		0	0	0.000978159	0	0
DCDC1	341019	broad.mit.edu	37	11	31312296	31312296	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:31312296C>T	uc001msv.3	-	6	1096	c.858G>A	c.(856-858)atG>atA	p.M286I	DCDC5_uc001msu.2_Intron	NM_181807	NP_861523	P59894	DCDC1_HUMAN	Homo sapiens doublecortin domain containing 1 (DCDC1), mRNA.	286					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)					TAAGTTTCTTCATTCTAATAG	0.383000														37			11		0	0	0.00136819	0	0
CR1	1378	broad.mit.edu	37	1	207789955	207789956	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:207789955_207789956GG>TT	uc001hfy.3	+	32	5487_5488	c.5347_5348GG>TT	c.(5347-5349)ggg>TTg	p.G1783L	CR1_uc001hfx.3_Missense_Mutation_p.G2233L|CR1_uc021pij.1_Missense_Mutation_p.G1783L	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	1783	Sushi 28.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TATCCTTAATGGGAGACACACA	0.396000														90			6		0	0	6.4e-05	0	0
SCN1A	6323	broad.mit.edu	37	2	166930023	166930023	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:166930023G>A	uc002udo.4	-	2	336	c.109C>T	c.(109-111)Ccc>Tcc	p.P37S	SCN1A_uc010fpk.3_Missense_Mutation_p.P37S|SCN1A_uc021vsb.1_Missense_Mutation_p.P37S	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	37						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)	TCTGGTTTGGGATTCTTTGCC	0.438000														140			23		0	0	0.000586117	0	0
CADPS2	93664	broad.mit.edu	37	7	122194668	122194668	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:122194668C>T	uc022akp.1	-	7	1833	c.1411G>A	c.(1411-1413)Gat>Aat	p.D471N	CADPS2_uc003vkg.4_Missense_Mutation_p.D171N|CADPS2_uc022akq.1_Missense_Mutation_p.D471N|CADPS2_uc010lkq.3_Missense_Mutation_p.D471N|CADPS2_uc022akr.1_Missense_Mutation_p.D471N	NM_001167940	NP_001161412	Q86UW7	CAPS2_HUMAN	Homo sapiens Ca++-dependent secretion activator 2 (CADPS2), transcript variant 3, mRNA.	471					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						AAGTCAGAATCCTGGCTATTT	0.353000														14			5		0	0	0.00116845	0	0
PRODH2	58510	broad.mit.edu	37	19	36304054	36304054	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:36304054A>G	uc002obx.1	-	0	148	c.130T>C	c.(130-132)Tgc>Cgc	p.C44R		NM_021232	NP_067055	Q9UF12	PROD2_HUMAN	Homo sapiens proline dehydrogenase (oxidase) 2 (PRODH2), mRNA.	44					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			cttttgtggcaattgcttcct	0.483000														59			9		0	0	0.00136819	0	0
ITGA11	22801	broad.mit.edu	37	15	68641217	68641217	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr15:68641217G>A	uc010bib.3	-	9	1169	c.1082C>T	c.(1081-1083)tCc>tTc	p.S361F	ITGA11_uc002ari.3_Missense_Mutation_p.S361F	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	Homo sapiens integrin, alpha 11 (ITGA11), mRNA.	361					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	CAGCCCAAAGGAGGTCTCGTT	0.587000														11			5		0	0	0.000602214	0	0
TRPV6	55503	broad.mit.edu	37	7	142569537	142569537	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:142569537C>T	uc003wbx.2	-	14	2330	c.2101G>A	c.(2101-2103)Ggg>Agg	p.G701R	TRPV6_uc003wbw.1_Missense_Mutation_p.G487R|TRPV6_uc010lou.1_Missense_Mutation_p.G572R	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	701	Interaction with calmodulin.				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CTCAGGGTCCCTTGCCGAAGC	0.587000														60			9		0	0	0.000442599	0	0
SLAMF8	56833	broad.mit.edu	37	1	159802950	159802950	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:159802950G>A	uc001fue.4	+	2	862	c.652G>A	c.(652-654)Gat>Aat	p.D218N		NM_020125	NP_064510	Q9P0V8	SLAF8_HUMAN	Homo sapiens SLAM family member 8 (SLAMF8), mRNA.	218						integral to membrane				endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					CACGCCCTGGGATAGCTGTCA	0.557000														47			12		0	0	0.000978159	0	0
MRAP2	112609	broad.mit.edu	37	6	84772701	84772701	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:84772701C>T	uc003pkg.4	+	2	407	c.217C>T	c.(217-219)Cca>Tca	p.P73S	MRAP2_uc010kbo.3_Intron	NM_138409	NP_612418	Q96G30	MRAP2_HUMAN	Homo sapiens melanocortin 2 receptor accessory protein 2 (MRAP2), mRNA.	73					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						GACAGGAGCCCCACACCAAGA	0.468000														31			5		0	0	0.000602214	0	0
C2orf71	388939	broad.mit.edu	37	2	29296040	29296040	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:29296040T>C	uc002rmt.2	-	0	1088	c.1088A>G	c.(1087-1089)gAc>gGc	p.D363G		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	363					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						GCCCAGCTTGTCCACCGACTG	0.612000														42			8		0	0	0.000274275	0	0
RHBG	57127	broad.mit.edu	37	1	156351917	156351917	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:156351917G>A	uc010pho.2	+	6	1075	c.1037G>A	c.(1036-1038)gGg>gAg	p.G346E	RHBG_uc010phm.1_Missense_Mutation_p.G179R|RHBG_uc010phn.1_Non-coding_Transcript|RHBG_uc001fos.3_Missense_Mutation_p.G277E|RHBG_uc009wrz.3_Missense_Mutation_p.G314E|RHBG_uc001for.3_Missense_Mutation_p.G316E	NM_020407	NP_065140	Q9H310	RHBG_HUMAN	Homo sapiens Rh family, B glycoprotein (gene/pseudogene) (RHBG), transcript variant 1, mRNA.	346					transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					AACCTCCATGGGATGCCGGGG	0.577000														86			28		0	0	0.00178596	0	0
UACA	55075	broad.mit.edu	37	15	70970503	70970503	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr15:70970503T>G	uc002asr.3	-	10	1038	c.934A>C	c.(934-936)Aaa>Caa	p.K312Q	UACA_uc010uke.2_Missense_Mutation_p.K203Q|UACA_uc002asq.3_Missense_Mutation_p.K299Q|UACA_uc010bin.1_Missense_Mutation_p.K298Q	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN	Homo sapiens uveal autoantigen with coiled-coil domains and ankyrin repeats (UACA), transcript variant 1, mRNA.	312						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						TGCTGAATTTTTCTCAACCTC	0.308000														58			30		0	0	0.0024448	0	0
GABRB1	2560	broad.mit.edu	37	4	47405408	47405408	+	Silent	SNP	C	T	T	rs6286		TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:47405408C>T	uc003gxh.3	+	5	992	c.618C>T	c.(616-618)atC>atT	p.I206I	GABRB1_uc011bze.2_Silent_p.I136I	NM_000812	NP_000803	P18505	GBRB1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 1 (GABRB1), mRNA.	206					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TTAATAAAATCGAACTTCCTC	0.413000														27			7		0	0	0.00198382	0	0
NUP153	9972	broad.mit.edu	37	6	17665598	17665598	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:17665598G>A	uc003ncd.1	-	8	1287	c.1087C>T	c.(1087-1089)Cct>Tct	p.P363S	NUP153_uc011dje.1_Missense_Mutation_p.P363S|NUP153_uc010jpl.1_Missense_Mutation_p.P363S	NM_005124	NP_005115	P49790	NU153_HUMAN	Homo sapiens nucleoporin 153kDa (NUP153), mRNA.	363					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			CTCTGAACAGGAGGATATTGA	0.338000														85			12		0	0	0.00244969	0	0
RAB20	55647	broad.mit.edu	37	13	111176065	111176065	+	Missense_Mutation	SNP	C	T	T	rs141229904		TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr13:111176065C>T	uc001vqy.3	-	1	857	c.652G>A	c.(652-654)Gat>Aat	p.D218N		NM_017817	NP_060287	Q9NX57	RAB20_HUMAN	Homo sapiens RAB20, member RAS oncogene family (RAB20), mRNA.	218					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding			endometrium(2)|large_intestine(2)|lung(3)	7	all_cancers(4;1.54e-11)|all_epithelial(4;1.22e-06)|all_lung(23;1e-05)|Lung NSC(43;0.000453)|Colorectal(4;0.00323)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.197)			CTGGATATATCCACTGTGTGT	0.542000														24			4		0	0	0.00024832	0	0
CLDN2	9075	broad.mit.edu	37	X	106171884	106171884	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chrX:106171884G>A	uc022ccd.1	+	0	426	c.426G>A	c.(424-426)ggG>ggA	p.G142G	MORC4_uc004emp.4_Intron|CLDN2_uc004emq.1_Silent_p.G142G|CLDN2_uc022ccc.1_Silent_p.G142G|CLDN2_uc004emt.2_Silent_p.G142G	NM_020384	NP_065117	P57739	CLD2_HUMAN	Homo sapiens claudin 2 (CLDN2), transcript variant 1, mRNA.	142					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						ATCTTCATGGGATCCTACGGG	0.502000														33			21		0	0	0.00047179	0	0
PRG4	10216	broad.mit.edu	37	1	186276033	186276033	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:186276033G>A	uc001gru.4	+	6	1233	c.1182G>A	c.(1180-1182)aaG>aaA	p.K394K	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Silent_p.K353K|PRG4_uc009wyl.3_Silent_p.K301K|PRG4_uc009wym.3_Silent_p.K260K|PRG4_uc010poo.2_Non-coding_Transcript	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	394	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CCACTCCCAAGGAGCCTGCAC	0.642000														54			19		0	0	0.00121646	0	0
AL117485	0	broad.mit.edu	37	22	18844763	18844763	+	RNA	SNP	T	C	C			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr22:18844763T>C	uc002zoe.3	+	3		c.2017T>C			AL117485_uc002zof.3_5'Flank					Homo sapiens cDNA FLJ76361 complete cds.																		TCACAGCCTCTGAGGGCAGCA	0.562000														16			3		0	0	6.4e-05	0	0
SLC17A6	57084	broad.mit.edu	37	11	22363231	22363231	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:22363231T>A	uc001mqk.3	+	1	657	c.244T>A	c.(244-246)Tgc>Agc	p.C82S		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 (SLC17A6), mRNA.	82					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						CCTGGGCTTCTGCATCTCCTT	0.642000														22			7		0	0	0.000157383	0	0
OR5B12	390191	broad.mit.edu	37	11	58207622	58207622	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:58207622C>T	uc010rkh.2	-	0	25	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 12 (OR5B12), mRNA.	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TGTTGTTCTCCATTGGGAATT	0.428000														32			11		0	0	0.000673444	0	0
ENPEP	2028	broad.mit.edu	37	4	111398146	111398146	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:111398146C>T	uc003iab.4	+	0	918	c.576C>T	c.(574-576)ttC>ttT	p.F192F		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	192					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	CCATGGAGTTCGCCGGCTGGC	0.507000														43			9		0	0	0.000978159	0	0
NEUROG3	50674	broad.mit.edu	37	10	71332748	71332748	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:71332748C>T	uc001jpp.3	-	1	298	c.52G>A	c.(52-54)Gag>Aag	p.E18K	NEUROG3_uc021pry.1_Missense_Mutation_p.E18K	NM_020999	NP_066279	Q9Y4Z2	NGN3_HUMAN	Homo sapiens neurogenin 3 (NEUROG3), mRNA.	18					central nervous system development|endocrine pancreas development|peripheral nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	transcription coactivator activity			endometrium(4)|large_intestine(2)|lung(6)|prostate(1)	13						AAGGACCGCTCCGTCTCACGG	0.672000														51			13		0	0	0.00185496	0	0
IL18R1	8809	broad.mit.edu	37	2	103006665	103006665	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:103006665G>A	uc002tbw.4	+	8	1249	c.1099G>A	c.(1099-1101)Gaa>Aaa	p.E367K	IL18R1_uc010ywd.2_Missense_Mutation_p.E211K|IL18R1_uc010fiy.3_Missense_Mutation_p.E367K|IL18R1_uc010ywc.2_Missense_Mutation_p.E366K	NM_003855	NP_003846	Q13478	IL18R_HUMAN	Homo sapiens interleukin 18 receptor 1 (IL18R1), mRNA.	367					innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GAGAAGAGATGAAACATTAAC	0.333000														52			11		0	0	0.000978159	0	0
CTC1	80169	broad.mit.edu	37	17	8141408	8141408	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:8141408G>A	uc002gkq.4	-	3	647	c.588C>T	c.(586-588)ggC>ggT	p.G196G	CTC1_uc010cnv.3_Non-coding_Transcript	NM_025099	NP_079375	Q2NKJ3	CTC1_HUMAN	Homo sapiens CTS telomere maintenance complex component 1 (CTC1), mRNA.	196					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						GCGTGACGGGGCCAGGACTGA	0.592000														36			6		0	0	0.00116845	0	0
ST8SIA2	8128	broad.mit.edu	37	15	92981673	92981673	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr15:92981673C>T	uc002bra.3	+	3	536	c.381C>T	c.(379-381)ttC>ttT	p.F127F	ST8SIA2_uc002brb.3_Silent_p.F106F	NM_006011	NP_006002	Q92186	SIA8B_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 (ST8SIA2), mRNA.	127					N-glycan processing|axon guidance|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			ATTACATCTTCGATCGAGACA	0.463000														140			20		0	0	0.00121646	0	0
LPAR4	2846	broad.mit.edu	37	X	78010720	78010720	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chrX:78010720C>T	uc022bzj.1	+	0	354	c.354C>T	c.(352-354)ttC>ttT	p.F118F	LPAR4_uc010nme.3_Silent_p.F118F	NM_005296	NP_005287	Q99677	LPAR4_HUMAN	Homo sapiens lysophosphatidic acid receptor 4 (LPAR4), mRNA.	118						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						GAACTGCATTCCTTACCAACA	0.418000														17			9		0	0	0.000673444	0	0
PRDM10	56980	broad.mit.edu	37	11	129795050	129795050	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:129795050G>A	uc001qfm.3	-	12	1849	c.1617C>T	c.(1615-1617)ttC>ttT	p.F539F	PRDM10_uc001qfj.3_Silent_p.F453F|PRDM10_uc001qfk.3_Silent_p.F449F|PRDM10_uc001qfl.3_Silent_p.F453F|PRDM10_uc010sbx.2_Silent_p.F449F|PRDM10_uc001qfn.3_Silent_p.F535F	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	Homo sapiens PR domain containing 10 (PRDM10), transcript variant 1, mRNA.	539					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CCTTTTCCCGGAAGGCCTTCC	0.502000														76			21		0	0	0.00188189	0	0
GLI3	2737	broad.mit.edu	37	7	42004228	42004228	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:42004228G>A	uc011kbh.2	-	14	4534	c.4443C>T	c.(4441-4443)tcC>tcT	p.S1481S	GLI3_uc011kbg.2_Silent_p.S1422S	NM_000168	NP_000159	P10071	GLI3_HUMAN	Homo sapiens GLI family zinc finger 3 (GLI3), mRNA.	1481					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TAGCACCTGGGGAAAGTAACT	0.532000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly					23			9		0	0	0.000274275	0	0
PTPRF	5792	broad.mit.edu	37	1	44056841	44056841	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:44056841C>T	uc001cjr.3	+	8	1488	c.1148C>T	c.(1147-1149)tCg>tTg	p.S383L	PTPRF_uc001cjs.3_Missense_Mutation_p.S383L|PTPRF_uc001cju.3_5'UTR|PTPRF_uc009vwt.3_5'UTR|PTPRF_uc001cjv.3_5'UTR	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	383	Fibronectin type-III 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGCCCTTTCTCGGAATATGCC	0.682000														44			8		0	0	0.000442599	0	0
FUT9	10690	broad.mit.edu	37	6	96651759	96651759	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:96651759C>T	uc003pop.4	+	2	1069	c.728C>T	c.(727-729)tCc>tTc	p.S243F	FUT9_uc021zcw.1_Missense_Mutation_p.S243F	NM_006581	NP_006572	Q9Y231	FUT9_HUMAN	Homo sapiens fucosyltransferase 9 (alpha (1,3) fucosyltransferase) (FUT9), mRNA.	243					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		TTTTATCTTTCCTTTGAAAAT	0.368000														6			3		0	0	6.4e-05	0	0
SLC17A3	10786	broad.mit.edu	37	6	25862519	25862519	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:25862519A>T	uc003nfk.4	-	2	355	c.245T>A	c.(244-246)gTg>gAg	p.V82E	SLC17A3_uc003nfi.4_Missense_Mutation_p.V82E|SLC17A3_uc011djz.1_Missense_Mutation_p.V82E|SLC17A3_uc011dka.1_Missense_Mutation_p.V82E	NM_001098486	NP_001091956	O00476	NPT4_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 3 (SLC17A3), transcript variant 1, mRNA.	82					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						AACAGGCAGCACCTCAGAGGA	0.428000														32			9		0	0	0.000673444	0	0
IL17A	3605	broad.mit.edu	37	6	52052552	52052552	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:52052552C>T	uc003pak.1	+	1	224	c.179C>T	c.(178-180)cCc>cTc	p.P60L		NM_002190	NP_002181	Q16552	IL17_HUMAN	Homo sapiens interleukin 17A (IL17A), mRNA.	60					apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation	extracellular space	cytokine activity	p.P60P(2)		endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					AATACCAATCCCAAAAGGTCC	0.448000														70			10		0	0	0.000673444	0	0
TUBB4A	10382	broad.mit.edu	37	19	6501323	6501323	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:6501323G>A	uc002mfg.1	-	2	359	c.252C>T	c.(250-252)atC>atT	p.I84I	TUBB4A_uc002mff.1_Silent_p.I12I	NM_006087	NP_006078	P04350	TBB4_HUMAN	Homo sapiens tubulin, beta 4A class IVa (TUBB4A), mRNA.	84					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity										CCGGCCGAAAGATCTGACCGA	0.577000														19			6		0	0	0.000157383	0	0
ADAM28	10863	broad.mit.edu	37	8	24199170	24199170	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr8:24199170G>A	uc003xdy.3	+	15	1813	c.1730G>A	c.(1729-1731)gGa>gAa	p.G577E	ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Missense_Mutation_p.G264E	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	577	Cys-rich.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CCCTGGAAAGGACGGATAGTG	0.428000														74			18		0	0	0.00121646	0	0
C9orf11	54586	broad.mit.edu	37	9	27284922	27284922	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr9:27284922C>T	uc003zql.3	-	7	768	c.684G>A	c.(682-684)acG>acA	p.T228T	LINC00032_uc010mjd.2_5'Flank|C9orf11_uc011lnq.2_Silent_p.T199T	NM_020641	NP_065692	Q9NQ60	AFAF_HUMAN	Homo sapiens chromosome 9 open reading frame 11 (C9orf11), transcript variant 1, mRNA.	228						acrosomal membrane|integral to membrane				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	17				OV - Ovarian serous cystadenocarcinoma(39;7.39e-08)|Lung(218;1.26e-05)|LUSC - Lung squamous cell carcinoma(38;0.000106)		AGTAAGACATCGTGGCCAGCT	0.378000														44			12		0	0	0.000978159	0	0
PTPN22	26191	broad.mit.edu	37	1	114380244	114380244	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:114380244G>A	uc001eds.3	-	12	1908	c.1778C>T	c.(1777-1779)tCc>tTc	p.S593F	PTPN22_uc021orx.1_Missense_Mutation_p.S593F|PTPN22_uc009wgq.3_Missense_Mutation_p.S538F|PTPN22_uc021ory.1_Missense_Mutation_p.S569F|PTPN22_uc010owo.2_Missense_Mutation_p.S349F|PTPN22_uc001edt.3_Intron|PTPN22_uc009wgr.2_Missense_Mutation_p.S593F|PTPN22_uc009wgs.2_Missense_Mutation_p.S466F|PTPN22_uc001edu.2_Missense_Mutation_p.S593F	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 22 (lymphoid) (PTPN22), transcript variant 1, mRNA.	593					T cell differentiation|negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	SH3 domain binding|kinase binding|protein tyrosine phosphatase activity			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAATAGTGAGGAAATATTGGT	0.328000														58			7		0	0	0.000157383	0	0
OSMR	9180	broad.mit.edu	37	5	38881759	38881759	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:38881759C>T	uc003jln.2	+	3	713	c.311C>T	c.(310-312)cCt>cTt	p.P104L	OSMR_uc003jlm.2_Missense_Mutation_p.P104L	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	104					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity	p.L103L(2)		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)					TCTGAGCTCCCTTTGGAATGT	0.468000														59			6		0	0	0.00116845	0	0
PTPRM	5797	broad.mit.edu	37	18	8379258	8379258	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr18:8379258C>T	uc002knn.4	+	25	4170	c.3667C>T	c.(3667-3669)Ctg>Ttg	p.L1223L	PTPRM_uc010dkv.3_Silent_p.L1236L|PTPRM_uc010wzl.2_Silent_p.L1010L	NM_002845	NP_002836	P28827	PTPRM_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, M (PTPRM), transcript variant 2, mRNA.	1223	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CATGGACATCCTGCCCCCAGA	0.597000														24			6		0	0	0.00116845	0	0
DRD3	1814	broad.mit.edu	37	3	113890765	113890765	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:113890765C>T	uc003ebd.2	-	2	498	c.75G>A	c.(73-75)caG>caA	p.Q25Q	DRD3_uc010hqn.1_Silent_p.Q25Q|DRD3_uc003ebb.1_Silent_p.Q25Q|DRD3_uc003ebc.1_Silent_p.Q25Q	NM_000796	NP_000787	P35462	DRD3_HUMAN	Homo sapiens dopamine receptor D3 (DRD3), transcript variant a, mRNA.	25					G-protein coupled receptor internalization|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|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)	GTGGGCGGGCCTGGCTGGCAC	0.627000														13			4		0	0	0.00024832	0	0
ANK3	288	broad.mit.edu	37	10	61835456	61835456	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:61835456G>A	uc001jky.3	-	36	5521	c.5183C>T	c.(5182-5184)tCc>tTc	p.S1728F	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1728	Ser-rich.				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						TAAAGTTGAGGATGATGGATA	0.438000														31			4		0	0	0.000602214	0	0
CDS2	8760	broad.mit.edu	37	20	5157336	5157336	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr20:5157336A>C	uc002wls.3	+	3	666	c.334A>C	c.(334-336)Att>Ctt	p.I112L	CDS2_uc002wlr.2_Missense_Mutation_p.I34L|CDS2_uc002wlw.3_Intron|CDS2_uc002wlv.3_Missense_Mutation_p.I14L|CDS2_uc010zqv.2_5'Flank	NM_003818	NP_003809	O95674	CDS2_HUMAN	Homo sapiens CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2 (CDS2), mRNA.	112					phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphatidate cytidylyltransferase activity	p.T111T(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						GATAATCACTATTGGCTACAA	0.448000														125			16		0	0	0.000422831	0	0
NPY5R	4889	broad.mit.edu	37	4	164271626	164271626	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:164271626G>A	uc003iqn.3	+	3	383	c.201G>A	c.(199-201)atG>atA	p.M67I	NPY5R_uc021xtw.1_Missense_Mutation_p.M67I	NM_006174	NP_006165	Q15761	NPY5R_HUMAN	Homo sapiens neuropeptide Y receptor Y5 (NPY5R), mRNA.	67					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane		p.M67V(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				TGGCTCTCATGAAAAAGCGTA	0.388000														125			30		0	0	0.00058488	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140801557	140801557	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:140801557A>T	uc003lkq.2	+	0	1021	c.763A>T	c.(763-765)Aac>Tac	p.N255Y	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lko.1_Missense_Mutation_p.N255Y|PCDHGC5_uc003lkp.2_Missense_Mutation_p.N255Y	NM_018914	NP_061737	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 11 (PCDHGA11), transcript variant 1, mRNA.	254	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTCCAGAAAACATCAGCTC	0.483000														128			26		0	0	0.00106085	0	0
ZNF235	9310	broad.mit.edu	37	19	44792362	44792362	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:44792362C>T	uc002oza.4	-	4	1329	c.1226G>A	c.(1225-1227)gGg>gAg	p.G409E	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.3_Intron|ZNF235_uc002ozb.4_Missense_Mutation_p.G405E	NM_004234	NP_004225	Q14590	ZN235_HUMAN	Homo sapiens zinc finger protein 235 (ZNF235), mRNA.	409					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				GAAGCCCTTCCCACACACCTC	0.438000														28			5		0	0	0.000602214	0	0
HECW2	57520	broad.mit.edu	37	2	197297889	197297889	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:197297889C>T	uc002utm.1	-	1	442	c.259G>A	c.(259-261)Gac>Aac	p.D87N		NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	87					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TCACTGGGGTCCACCTCCTCT	0.463000														36			5		0	0	0.00198382	0	0
GABBR2	9568	broad.mit.edu	37	9	101073422	101073422	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr9:101073422C>T	uc004ays.3	-	13	2419	c.1959G>A	c.(1957-1959)atG>atA	p.M653I		NM_005458	NP_005449	O75899	GABR2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 2 (GABBR2), mRNA.	653					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	GCCAGATGGTCATATGGGTGT	0.552000														34			7		0	0	0.000274275	0	0
MYH4	4622	broad.mit.edu	37	17	10357143	10357143	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:10357143G>A	uc002gmn.3	-	22	2862	c.2751C>T	c.(2749-2751)atC>atT	p.I917I	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	917					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin 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						CCTCAAGTTGGATTTTGGTTT	0.413000														168			27		0	0	0.00106085	0	0
HRNR	388697	broad.mit.edu	37	1	152188265	152188266	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:152188265_152188266GG>AA	uc001ezt.1	-	2	5915_5916	c.5839_5840CC>TT	c.(5839-5841)cct>TTt	p.P1947F		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	1947					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)			GCTAGGGCTAGGAGACTGGCCA	0.604000														269			9		0	0	6.4e-05	0	0
HLA-DMB	3109	broad.mit.edu	37	6	32903127	32903127	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:32903127T>A	uc003ocl.2	-	4	1030	c.767A>T	c.(766-768)tAt>tTt	p.Y256F	HLA-DMB_uc003ock.2_Non-coding_Transcript|HLA-DMB_uc010jud.2_Intron|HLA-DMB_uc010jue.2_Missense_Mutation_p.Y86F|HLA-DMB_uc010juf.2_Intron|HLA-DMB_uc003ocj.2_3'UTR	NM_002118	NP_002109	P28068	DMB_HUMAN	Homo sapiens major histocompatibility complex, class II, DM beta (HLA-DMB), mRNA.	256					T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	MHC class II protein complex|integral to membrane|late endosome membrane|lysosomal membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						ACCTTCTGAATAATTGGACCC	0.418000														32			8		0	0	0.000157383	0	0
KAZN	23254	broad.mit.edu	37	1	15382772	15382772	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:15382772G>A	uc001avm.4	+	4	1193	c.912G>A	c.(910-912)cgG>cgA	p.R304R	KAZN_uc009vog.1_Silent_p.R304R|KAZN_uc001avo.2_Silent_p.R298R|KAZN_uc001avp.2_Silent_p.R210R|KAZN_uc001avq.2_Silent_p.R210R|KAZN_uc001avr.2_Silent_p.R207R	NM_201628	NP_963922	Q674X7	KAZRN_HUMAN	Homo sapiens kazrin, periplakin interacting protein (KAZN), transcript variant E, mRNA.	304	Interaction with PPL.				keratinization	cornified envelope|cytoplasm|desmosome|nucleus				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						CTGCGGACCGGCAAGGTGAGT	0.647000														11			4		0	0	0.00024832	0	0
CAMK1D	57118	broad.mit.edu	37	10	12870825	12870825	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:12870825T>C	uc001ilo.3	+	10	1332	c.1097T>C	c.(1096-1098)gTt>gCt	p.V366A		NM_153498	NP_705718	Q8IU85	KCC1D_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase ID (CAMK1D), transcript variant 2, mRNA.	366						calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		GTCTCAGGAGTTGGAGCCGAG	0.612000														121			19		0	0	0.00047179	0	0
SLC13A2	9058	broad.mit.edu	37	17	26817538	26817538	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:26817538G>A	uc010wan.2	+	2	512	c.445G>A	c.(445-447)Gtg>Atg	p.V149M	SLC13A2_uc010wal.1_Missense_Mutation_p.V57M|SLC13A2_uc010wam.2_Missense_Mutation_p.V56M|SLC13A2_uc002hbh.3_Missense_Mutation_p.V100M|SLC13A2_uc010wao.2_Missense_Mutation_p.V57M|SLC13A2_uc002hbi.3_Missense_Mutation_p.V29M	NM_001145975	NP_001139447	Q13183	S13A2_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 (SLC13A2), transcript variant 1, mRNA.	100						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	GGCCATCGCGGTGGAACACTG	0.627000														31			10		0	0	0.000978159	0	0
HOXB3	3213	broad.mit.edu	37	17	46627737	46627737	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:46627737G>A	uc002inn.3	-	1	1655	c.1255C>T	c.(1255-1257)Cag>Tag	p.Q419*	HOXB3_uc010wlm.2_Nonsense_Mutation_p.Q346*|HOXB3_uc010dbf.3_Nonsense_Mutation_p.Q419*|HOXB3_uc010dbg.3_Nonsense_Mutation_p.Q419*|HOXB3_uc002ino.3_Nonsense_Mutation_p.Q419*|HOXB3_uc010wlk.2_Nonsense_Mutation_p.Q287*|HOXB3_uc010wll.2_Nonsense_Mutation_p.Q346*	NM_002146	NP_002137	P14651	HXB3_HUMAN	Homo sapiens homeobox B3 (HOXB3), mRNA.	419					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						ATTCTACCCTGAGGAGGAGGC	0.612000											OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		66			11		0	0	0.000978159	0	0
C1orf173	127254	broad.mit.edu	37	1	75038351	75038351	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:75038351C>T	uc001dgg.3	-	13	3262	c.3043G>A	c.(3043-3045)Gaa>Aaa	p.E1015K		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	1015	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						AGGCTTCCTTCCTCAGGGCTG	0.512000														53			12		0	0	0.00136819	0	0
IL21	59067	broad.mit.edu	37	4	123536858	123536858	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:123536858C>T	uc003ies.2	-	2	384	c.339G>A	c.(337-339)ggG>ggA	p.G113G	IL21_uc010int.3_Silent_p.G113G	NM_021803	NP_068575	Q9HBE4	IL21_HUMAN	Homo sapiens interleukin 21 (IL21), transcript variant 1, mRNA.	106					cell maturation|immune response|positive regulation of T cell proliferation|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|signal transduction	extracellular space	cytokine activity|interleukin-2 receptor binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						TCTGTCTTCTCCCTGCATTTG	0.348000														61			20		0	0	0.00229938	0	0
FLII	2314	broad.mit.edu	37	17	18150579	18150580	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:18150579_18150580GG>AA	uc002gsr.1	-	20	2630_2631	c.2579_2580CC>TT	c.(2578-2580)tcc>tTT	p.S860F	FLII_uc002gsq.1_Missense_Mutation_p.S731F|FLII_uc010vxn.1_Missense_Mutation_p.S829F|FLII_uc010vxo.1_Missense_Mutation_p.S805F|FLII_uc002gss.1_Missense_Mutation_p.S859F	NM_002018	NP_002009	Q13045	FLII_HUMAN	Homo sapiens flightless I homolog (Drosophila) (FLII), transcript variant 1, mRNA.	860					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)					TCACCTTCCCGGAGAGACCCGG	0.619000														49			9		0	0	6.4e-05	0	0
SLC22A7	10864	broad.mit.edu	37	6	43271893	43271893	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:43271893C>T	uc021yzt.1	+	9	1602	c.1503C>T	c.(1501-1503)atC>atT	p.I501I	SLC22A7_uc003ous.3_Silent_p.I499I|SLC22A7_uc003out.3_Silent_p.I499I	NM_153320	NP_696961	Q9Y694	S22A7_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 7 (SLC22A7), transcript variant 2, mRNA.	501						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity	p.I501I(2)		NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			ATGGGGGGATCGCCCTGCTGG	0.652000														67			10		0	0	0.000442599	0	0
PEX13	5194	broad.mit.edu	37	2	61275798	61275798	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:61275798T>G	uc002sau.4	+	3	1188	c.1105T>G	c.(1105-1107)Tct>Gct	p.S369A		NM_002618	NP_002609	Q92968	PEX13_HUMAN	Homo sapiens peroxisomal biogenesis factor 13 (PEX13), mRNA.	369					cerebral cortex cell migration|fatty acid alpha-oxidation|locomotory behavior|microtubule-based peroxisome localization|neuron migration|protein import into peroxisome matrix, docking|suckling behavior	integral to peroxisomal membrane|membrane fraction	protein binding			endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			LUSC - Lung squamous cell carcinoma(5;2.05e-06)|Lung(5;3.13e-05)|Epithelial(17;0.114)			GGTTGCTGATTCTTTGGATGA	0.403000														56			14		0	0	0.000422831	0	0
FRYL	285527	broad.mit.edu	37	4	48542951	48542951	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:48542951C>A	uc003gyh.1	-	45	6319	c.5714G>T	c.(5713-5715)gGa>gTa	p.G1905V	FRYL_uc003gyg.1_Missense_Mutation_p.G601V|FRYL_uc003gyi.1_Missense_Mutation_p.G793V|FRYL_uc003gyj.1_Missense_Mutation_p.G200V	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	1905					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						ATACTTGTTTCCCATTATAGG	0.333000														26			8		2.17888e-05	0.000107135	0.000442599	1	0
NYAP1	222950	broad.mit.edu	37	7	100086448	100086448	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:100086448C>T	uc003uvd.1	+	3	1263	c.1104C>T	c.(1102-1104)ggC>ggT	p.G368G	NYAP1_uc003uve.1_Silent_p.G150G	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 (NYAP1), mRNA.	368	Pro-rich.																AGCCAGCCGGCTCCACCCCAG	0.687000														21			15		0	0	0.000308642	0	0
CATSPERD	257062	broad.mit.edu	37	19	5748225	5748225	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:5748225C>T	uc002mda.3	+	9	924	c.863C>T	c.(862-864)tCc>tTc	p.S288F	CATSPERD_uc010duj.1_5'UTR	NM_152784	NP_689997	Q86XM0	TM146_HUMAN	Homo sapiens transmembrane protein 146 (TMEM146), mRNA.	288						integral to membrane											TTGTTTTCTTCCATTTTTGAA	0.507000														56			17		0	0	0.00074312	0	0
ODZ2	57451	broad.mit.edu	37	5	167517605	167517605	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:167517605G>A	uc010jjd.3	+	7	1542	c.1542G>A	c.(1540-1542)ggG>ggA	p.G514G	ODZ2_uc003lzq.2_Silent_p.G393G|ODZ2_uc003lzr.4_Silent_p.G282G	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		GTCTGGACGGGAAGGAGAAGT	0.547000														42			5		0	0	0.000157383	0	0
PALLD	23022	broad.mit.edu	37	4	169812121	169812121	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:169812121G>A	uc011cjx.2	+	10	2224	c.2013G>A	c.(2011-2013)gaG>gaA	p.E671E	CBR4_uc011cjy.2_Intron|PALLD_uc003iru.3_Silent_p.E671E|PALLD_uc003irv.3_Silent_p.E289E|PALLD_uc003irw.3_Silent_p.E184E	NM_001166108	NP_001159580	Q8WX93	PALLD_HUMAN	Homo sapiens palladin, cytoskeletal associated protein (PALLD), transcript variant 1, mRNA.	895	Interaction with LASP1 (By similarity).|Pro-rich.				cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		CCTCCGATGAGGAAATTCAAG	0.443000									Pancreatic Cancer, Familial Clustering of					39			5		0	0	0.00198382	0	0
MIER2	54531	broad.mit.edu	37	19	308851	308851	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:308851G>A	uc002lok.1	-	10	1068	c.1059C>T	c.(1057-1059)ttC>ttT	p.F353F		NM_017550	NP_060020	Q8N344	MIER2_HUMAN	Homo sapiens mesoderm induction early response 1, family member 2 (MIER2), mRNA.	353					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		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)		TCTGCTGGGCGAAGTAGTCGT	0.672000														35			7		0	0	0.00198382	0	0
AQP12B	653437	broad.mit.edu	37	2	241622137	241622137	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:241622137C>T	uc010fzj.3	-	0	181	c.118G>A	c.(118-120)Gag>Aag	p.E40K	AQP12B_uc002vzt.3_Intron	NM_001102467	NP_001095937	A6NM10	AQ12B_HUMAN	Homo sapiens aquaporin 12B (AQP12B), mRNA.	40						integral to membrane	transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1)	13		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		CCCACCGCCTCCCGGGCGAAG	0.682000														16			7		0	0	0.00198382	0	0
PDS5A	23244	broad.mit.edu	37	4	39910119	39910119	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:39910119G>A	uc003guv.4	-	10	1669	c.1129C>T	c.(1129-1131)Cgt>Tgt	p.R377C	PDS5A_uc003guw.4_Missense_Mutation_p.R377C	NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN	Homo sapiens PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) (PDS5A), transcript variant 1, mRNA.	377					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding	p.I376L(1)		breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						ACATCATGACGAATAGCTTCT	0.348000														91			26		0	0	0.000586117	0	0
CPNE5	57699	broad.mit.edu	37	6	36714178	36714178	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:36714178G>A	uc003omr.1	-	15	1262	c.1195C>T	c.(1195-1197)Cca>Tca	p.P399S	CPNE5_uc003omp.1_Missense_Mutation_p.P107S|CPNE5_uc010jwn.1_Missense_Mutation_p.P49S|CPNE5_uc003omq.1_Missense_Mutation_p.P49S	NM_020939	NP_065990	Q9HCH3	CPNE5_HUMAN	Homo sapiens copine V (CPNE5), mRNA.	399	VWFA.									central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CCTACCAGTGGGAACTCGTGG	0.642000														33			11		0	0	0.00185496	0	0
PTPRT	11122	broad.mit.edu	37	20	40735465	40735466	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr20:40735465_40735466AC>TT	uc002xkg.3	-	23	3534_3535	c.3350_3351GT>AA	c.(3349-3351)cgt>cAA	p.R1117Q	PTPRT_uc010ggj.3_Missense_Mutation_p.R1136Q|PTPRT_uc010ggi.3_Missense_Mutation_p.R320Q	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	1117	Tyrosine-protein phosphatase 1.				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)				CCCGGAGCTCACGCACGCAGTT	0.579000														59			11		0	0	6.4e-05	0	0
PSG4	5672	broad.mit.edu	37	19	43698625	43698625	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:43698625C>T	uc002ovy.3	-	4	1212	c.1110G>A	c.(1108-1110)ggG>ggA	p.G370G	PSG4_uc010xwk.1_Intron|PSG4_uc002ovz.3_Silent_p.G277G|PSG4_uc002owb.3_Silent_p.G277G	NM_002780	NP_002771	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA.	370	Ig-like C2-type 3.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GCTGAAACTTCCCATTAATTG	0.458000														89			23		0	0	0.000586117	0	0
DMBT1	1755	broad.mit.edu	37	10	124399773	124399773	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:124399773C>T	uc001lgk.1	+	51	6879	c.6773C>T	c.(6772-6774)tCc>tTc	p.S2258F	DMBT1_uc001lgl.1_Missense_Mutation_p.S2248F|DMBT1_uc001lgm.1_Missense_Mutation_p.S1630F|DMBT1_uc021qaf.1_Missense_Mutation_p.S2258F|DMBT1_uc021qag.1_Missense_Mutation_p.S2248F|DMBT1_uc021qah.1_Missense_Mutation_p.S1630F|DMBT1_uc009xzz.1_Missense_Mutation_p.S2257F|DMBT1_uc010qtx.1_Missense_Mutation_p.S978F|DMBT1_uc009yab.1_Missense_Mutation_p.S961F|DMBT1_uc009yac.1_Missense_Mutation_p.S552F	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	2258	ZP.				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	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein 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)				GTGAACATTTCCTTTTATACT	0.463000														78			14		0	0	0.00244969	0	0
ODF2	4957	broad.mit.edu	37	9	131246222	131246222	+	Silent	SNP	A	G	G			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr9:131246222A>G	uc004bvc.3	+	10	1271	c.1185A>G	c.(1183-1185)caA>caG	p.Q395Q	ODF2_uc011maz.2_Silent_p.Q331Q|ODF2_uc011mba.2_Non-coding_Transcript|ODF2_uc010myb.3_Silent_p.Q307Q|ODF2_uc011mbc.2_Silent_p.Q250Q|ODF2_uc022boj.1_Silent_p.Q356Q|ODF2_uc004bva.3_Silent_p.Q375Q|ODF2_uc004bvb.3_Silent_p.Q307Q|ODF2_uc011mbd.2_Silent_p.Q331Q|ODF2_uc011mbe.2_Silent_p.Q326Q|ODF2_uc010myc.3_Silent_p.Q274Q|ODF2_uc011mbf.2_Silent_p.Q312Q|ODF2_uc004bvd.4_Silent_p.Q331Q|ODF2_uc004bve.3_Silent_p.Q312Q|BC094874_uc004bvg.3_5'Flank	NM_153435	NP_702913	Q5BJF6	ODFP2_HUMAN	Homo sapiens outer dense fiber of sperm tails 2 (ODF2), transcript variant 1, mRNA.	331					G2/M transition of mitotic cell cycle|cell differentiation|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						CACAGGCTCAAGCAAAGACAG	0.507000														57			11		0	0	0.000978159	0	0
OR5H6	79295	broad.mit.edu	37	3	97983289	97983289	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:97983289C>T	uc003dsi.1	+	0	161	c.161C>T	c.(160-162)aCc>aTc	p.T54I		NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 6 (OR5H6), mRNA.	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TATCTCATCACCATCATGGGG	0.408000														79			10		0	0	0.000673444	0	0
SEPT7P2	641977	broad.mit.edu	37	7	45798762	45798762	+	RNA	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:45798762G>A	uc003tnh.3	-	1		c.371C>T			SEPT7P2_uc003tnf.4_Non-coding_Transcript					Homo sapiens septin 7 pseudogene 2 (SEPT7P2), non-coding RNA.																		TTAAAACTTTGGATTGTTCCA	0.383000														31			6		0	0	0.00116845	0	0
OR7G3	390883	broad.mit.edu	37	19	9237444	9237444	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:9237444G>A	uc010xkl.2	-	0	183	c.183C>T	c.(181-183)ttC>ttT	p.F61F		NM_001001958	NP_001001958	Q8NG95	OR7G3_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 3 (OR7G3), mRNA.	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						TAGAGAGGAGGAAGTACATGG	0.537000														39			6		0	0	0.00198382	0	0
BCAS1	8537	broad.mit.edu	37	20	52644981	52644982	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr20:52644981_52644982CC>AT	uc002xws.2	-	3	1010_1011	c.672_673GG>AT	c.(670-675)gtggat>gtATat	p.D225Y	BCAS1_uc010zzb.1_Missense_Mutation_p.D128Y|BCAS1_uc010gim.2_Missense_Mutation_p.D128Y|BCAS1_uc002xwt.2_Missense_Mutation_p.D225Y|BCAS1_uc010gil.1_Missense_Mutation_p.D225Y|BCAS1_uc010zzc.2_Missense_Mutation_p.D128Y	NM_003657	NP_003648	O75363	BCAS1_HUMAN	Homo sapiens breast carcinoma amplified sequence 1 (BCAS1), mRNA.	225						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			GGAACCTCATCCACCTTGTCTT	0.530000														126			20		0	0	6.4e-05	0	0
CHORDC1	26973	broad.mit.edu	37	11	89936519	89936519	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:89936519T>C	uc001pdg.2	-	8	1156	c.746A>G	c.(745-747)aAc>aGc	p.N249S	CHORDC1_uc009yvz.2_Missense_Mutation_p.N230S	NM_012124	NP_036256	Q9UHD1	CHRD1_HUMAN	Homo sapiens cysteine and histidine-rich domain (CHORD) containing 1 (CHORDC1), transcript variant 1, mRNA.	249	CS.|Interaction with HSP90AA1 and HSP90AB1 (By similarity).				chaperone-mediated protein folding|regulation of response to stress|response to stress		Hsp90 protein binding|identical protein binding			endometrium(2)|large_intestine(2)|liver(1)|lung(6)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)				TGGAAGTGAGTTTTTAGCATA	0.353000														52			16		0	0	0.00074312	0	0
SGIP1	84251	broad.mit.edu	37	1	67195044	67195044	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:67195044C>T	uc001dcr.3	+	19	2057	c.1840C>T	c.(1840-1842)Cgg>Tgg	p.R614W	SGIP1_uc010opd.2_Missense_Mutation_p.R214W|SGIP1_uc001dcs.3_Missense_Mutation_p.R214W|SGIP1_uc001dct.3_Missense_Mutation_p.R216W|SGIP1_uc009wat.3_Missense_Mutation_p.R408W|SGIP1_uc001dcu.3_Missense_Mutation_p.R119W	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	Homo sapiens SH3-domain GRB2-like (endophilin) interacting protein 1 (SGIP1), mRNA.	614					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	SH3 domain binding|microtubule binding|phospholipid binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						TCTGACTTTTCGGGTGATAAA	0.448000														53			5		0	0	0.000602214	0	0
OVOS2	0	broad.mit.edu	37	12	31300958	31300958	+	Silent	SNP	C	T	T	rs145176193	by1000genomes	TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:31300958C>T	uc010sjy.1	-	10	1302	c.1302G>A	c.(1300-1302)acG>acA	p.T434T						RecName: Full=Ovostatin homolog 2; Flags: Precursor;													all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GGAAGCTGTTCGTTCGGGAGT	0.463000														207			15		0	0	0.00074312	0	0
SCN10A	6336	broad.mit.edu	37	3	38739953	38739953	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:38739953C>T	uc003ciq.3	-	26	4758	c.4758G>A	c.(4756-4758)ctG>ctA	p.L1586L		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1586					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)	CCGCTCGGATCAGTCTGAGGA	0.527000														39			7		0	0	0.00198382	0	0
FRY	10129	broad.mit.edu	37	13	32798487	32798487	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr13:32798487C>T	uc001utx.3	+	36	5377	c.4881C>T	c.(4879-4881)ctC>ctT	p.L1627L	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	1627					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TTGACTATCTCCCGGAGACCA	0.562000														29			4		0	0	0.00024832	0	0
SERPINB2	5055	broad.mit.edu	37	18	61584738	61584738	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr18:61584738G>A	uc010xev.2	+	2	307	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	SERPINB2_uc002ljp.1_Missense_Mutation_p.E214K|SERPINB2_uc002ljq.1_Missense_Mutation_p.E187K|SERPINB2_uc010xew.2_Missense_Mutation_p.E73K	NM_005024	NP_005015	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 10 (SERPINB10), mRNA.	83					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	Golgi apparatus|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	CCCTGAAAGTGAAAAAAAAAG	0.284000														6			3		0	0	0.000602214	0	0
DSP	1832	broad.mit.edu	37	6	7581253	7581253	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:7581253C>T	uc003mxp.1	+	22	5109	c.4830C>T	c.(4828-4830)atC>atT	p.I1610I	DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Intron	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1610	Central fibrous rod domain.				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)		AGCAAGCCATCAAAATCACCA	0.567000														43			5		0	0	0.000602214	0	0
SPEG	10290	broad.mit.edu	37	2	220315923	220315923	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:220315923C>T	uc010fwg.3	+	4	2179	c.2179C>T	c.(2179-2181)Ccc>Tcc	p.P727S	SPEG_uc002vlm.3_Non-coding_Transcript|SPEG_uc010fwh.2_5'UTR|SPEG_uc002vln.1_5'UTR|SPEG_uc002vlp.1_5'UTR	NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	727	Ig-like 2.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GTTTGAGATCCCCCTGCAGAA	0.602000														49			13		0	0	0.00185496	0	0
UGT3A2	167127	broad.mit.edu	37	5	36052075	36052075	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:36052075C>T	uc003jjz.2	-	2	340	c.208G>A	c.(208-210)Gaa>Aaa	p.E70K	UGT3A2_uc011cos.2_Missense_Mutation_p.E36K|UGT3A2_uc011cot.2_5'UTR	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	70						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GATTTTTCTTCCTTTTTAAAA	0.284000														40			5		0	0	0.000157383	0	0
INA	9118	broad.mit.edu	37	10	105048203	105048203	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:105048203T>G	uc001kws.3	+	2	1326	c.1277T>G	c.(1276-1278)cTg>cGg	p.L426R		NM_032727	NP_116116	Q16352	AINX_HUMAN	Homo sapiens internexin neuronal intermediate filament protein, alpha (INA), mRNA.	426	Tail.				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton			breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		CCAAGTTACCTGCTCCCACCT	0.498000														74			15		0	0	0.000566183	0	0
SH2D7	646892	broad.mit.edu	37	15	78390920	78390920	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr15:78390920C>T	uc010blb.1	+	3	627	c.627C>T	c.(625-627)tcC>tcT	p.S209S		NM_001101404	NP_001094874	A6NKC9	SH2D7_HUMAN	Homo sapiens SH2 domain containing 7 (SH2D7), mRNA.	209										endometrium(2)|kidney(2)|lung(3)	7						GGAACCTCTCCCAGGAGGAAA	0.617000														7			3		0	0	6.4e-05	0	0
XRN1	54464	broad.mit.edu	37	3	142089409	142089409	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:142089409G>A	uc003eus.3	-	26	3189	c.3122C>T	c.(3121-3123)aCt>aTt	p.T1041I	XRN1_uc010huu.3_Missense_Mutation_p.T507I|XRN1_uc003eut.3_Missense_Mutation_p.T1041I|XRN1_uc003euu.3_Missense_Mutation_p.T1041I	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	Homo sapiens 5'-3' exoribonuclease 1 (XRN1), transcript variant 1, mRNA.	1041					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	Golgi apparatus|cytosol|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|RNA binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						ACGAGATAAAGTACTGACAGG	0.313000														34			10		0	0	0.000673444	0	0
CGN	57530	broad.mit.edu	37	1	151506472	151506472	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:151506472C>T	uc009wmw.3	+	14	2908	c.2764C>T	c.(2764-2766)Ctg>Ttg	p.L922L	CGN_uc010pde.2_5'Flank	NM_020770	NP_065821	Q9P2M7	CING_HUMAN	Homo sapiens cingulin (CGN), mRNA.	916						myosin complex|tight junction	actin binding|motor activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCGGCAGGCCCTGCAGGCATC	0.632000														32			7		0	0	0.000157383	0	0
DST	667	broad.mit.edu	37	6	56324944	56324944	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:56324944G>A	uc003pcy.4	-	82	15346	c.15238C>T	c.(15238-15240)Cga>Tga	p.R5080*	DST_uc003pcv.4_Nonsense_Mutation_p.R202*|DST_uc003pcw.4_Nonsense_Mutation_p.R163*|DST_uc003pcx.4_Nonsense_Mutation_p.R126*	NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	7479					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	Z disc|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	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein 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)			AACTGTGTTCGGACTCTGGCA	0.473000														29			4		0	0	0.00024832	0	0
CEP192	55125	broad.mit.edu	37	18	13056570	13056570	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr18:13056570C>T	uc010xac.2	+	18	4061	c.3981C>T	c.(3979-3981)tcC>tcT	p.S1327S	CEP192_uc010dlf.1_Non-coding_Transcript|CEP192_uc010xad.2_Silent_p.S852S|CEP192_uc002kru.3_Non-coding_Transcript|CEP192_uc002krv.3_5'UTR|CEP192_uc002krs.1_Silent_p.S1068S	NM_032142	NP_115518	B7ZMF0	B7ZMF0_HUMAN	Homo sapiens centrosomal protein 192kDa (CEP192), mRNA.	922										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GTACCTCTTCCCTCTGTAACC	0.458000														66			13		0	0	0.00136819	0	0
TRPV3	162514	broad.mit.edu	37	17	3417291	3417291	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:3417291G>T	uc002fvr.2	-	17	2618	c.2296C>A	c.(2296-2298)Caa>Aaa	p.Q766K	SPATA22_uc010vrg.2_5'Flank|TRPV3_uc002fvs.1_Non-coding_Transcript|TRPV3_uc010vrh.1_Missense_Mutation_p.Q749K|TRPV3_uc010vri.1_Missense_Mutation_p.Q720K|TRPV3_uc010vrk.1_Non-coding_Transcript|TRPV3_uc002fvt.1_Missense_Mutation_p.Q765K|TRPV3_uc010vrj.1_Missense_Mutation_p.Q749K|TRPV3_uc010vrm.1_Non-coding_Transcript|TRPV3_uc010vrl.1_Missense_Mutation_p.Q750K	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 3 (TRPV3), mRNA.	765						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)	GAAGAATCTTGGATTTTGTTG	0.343000														48			9		1.12685e-05	5.546e-05	0.000274275	1	0
PCDHAC2	56134	broad.mit.edu	37	5	140202640	140202640	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:140202640G>A	uc003lhl.2	+	0	1280	c.1280G>A	c.(1279-1281)cGg>cAg	p.R427Q	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhk.1_Missense_Mutation_p.R427Q|PCDHAC2_uc003lhj.1_Missense_Mutation_p.R427Q	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	442	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGACCGCGCGGGACGGGGGC	0.642000														93			23		0	0	0.000586117	0	0
SEMG2	6407	broad.mit.edu	37	20	43850925	43850925	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr20:43850925G>A	uc010ggz.3	+	1	709	c.652G>A	c.(652-654)Ggg>Agg	p.G218R	SEMG2_uc002xnk.3_Missense_Mutation_p.G218R|SEMG2_uc002xnl.3_Missense_Mutation_p.G218R	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	Homo sapiens semenogelin II (SEMG2), mRNA.	218	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)				TCAAAATAAAGGGCATTACCA	0.393000														70			14		0	0	0.00185496	0	0
PASD1	139135	broad.mit.edu	37	X	150842617	150842617	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chrX:150842617G>A	uc004fev.4	+	14	2466	c.2134G>A	c.(2134-2136)Gat>Aat	p.D712N		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	712						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)					TTGGTCTTGCGATGAGCAGGG	0.567000														32			10		0	0	0.000673444	0	0
SORL1	6653	broad.mit.edu	37	11	121348849	121348849	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:121348849G>A	uc001pxx.3	+	2	554	c.425G>A	c.(424-426)gGa>gAa	p.G142E		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	142					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)		TACGACTATGGAAAATCATTC	0.388000														62			8		0	0	0.000673444	0	0
SLC26A7	115111	broad.mit.edu	37	8	92401654	92401654	+	Silent	SNP	C	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr8:92401654C>A	uc003yez.3	+	15	2003	c.1764C>A	c.(1762-1764)tcC>tcA	p.S588S	SLC26A7_uc003yex.3_Silent_p.S588S|SLC26A7_uc003yey.3_Non-coding_Transcript|SLC26A7_uc003yfa.3_Silent_p.S588S	NM_134266	NP_599028	Q8TE54	S26A7_HUMAN	Homo sapiens solute carrier family 26, member 7 (SLC26A7), transcript variant 2, mRNA.	588	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)			CTGGAGTCTCCATGCTTGTTG	0.408000														139			7		0.00198382	0.00964398	0.00198382	1	0
RIMBP2	23504	broad.mit.edu	37	12	130884333	130884333	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:130884333A>G	uc001uil.2	-	17	3239	c.3023T>C	c.(3022-3024)cTt>cCt	p.L1008P		NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	1008	SH3 3.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TGAGGGCACAAGGCCTTTCTG	0.458000														34			4		0	0	0.00024832	0	0
OLAH	55301	broad.mit.edu	37	10	15115166	15115166	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:15115166G>A	uc001int.2	+	8	1149	c.895G>A	c.(895-897)Gag>Aag	p.E299K	ACBD7_uc010qby.1_Intron|OLAH_uc001inu.2_Missense_Mutation_p.E246K	NM_018324	NP_060794	Q9NV23	SAST_HUMAN	Homo sapiens oleoyl-ACP hydrolase (OLAH), transcript variant 1, mRNA.	246					fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity	p.E299K(2)		endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						TCCTGCGAACGAGAAATTAAT	0.328000														43			10		0	0	0.000978159	0	0
DSP	1832	broad.mit.edu	37	6	7585740	7585740	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:7585740G>A	uc003mxp.1	+	23	8524	c.8245G>A	c.(8245-8247)Gaa>Aaa	p.E2749K	DSP_uc003mxq.1_Missense_Mutation_p.E2150K|DSP_uc021yle.1_Missense_Mutation_p.E2306K	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2749	Globular 2.				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)		AAGCACCGAAGAAGCCATCCG	0.557000														75			13		0	0	0.00244969	0	0
CATSPER1	117144	broad.mit.edu	37	11	65793416	65793416	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:65793416C>T	uc001ogt.3	-	0	573	c.435G>A	c.(433-435)agG>agA	p.R145R		NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN	Homo sapiens cation channel, sperm associated 1 (CATSPER1), mRNA.	145	His-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						GGTGAGACCCCCTATGGTAAT	0.557000														35			7		0	0	0.00198382	0	0
ODC1	4953	broad.mit.edu	37	2	10580951	10580951	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:10580951C>T	uc010exg.1	-	11	1719	c.1285G>A	c.(1285-1287)Gta>Ata	p.V429I	ODC1_uc002rao.1_Missense_Mutation_p.V429I|ODC1_uc010yjd.1_Missense_Mutation_p.V299I	NM_002539	NP_002530	P11926	DCOR_HUMAN	Homo sapiens ornithine decarboxylase 1 (ODC1), mRNA.	429					polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding			NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)	TGTTCCTCTACTTCGGGTGGG	0.512000														66			6		0	0	0.000157383	0	0
NEU3	10825	broad.mit.edu	37	11	74716820	74716820	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:74716820C>T	uc001ovw.3	+	2	825	c.669C>T	c.(667-669)ttC>ttT	p.F223F	NEU3_uc001ovv.3_Silent_p.F213F|NEU3_uc010rrl.2_Silent_p.F114F	NM_006656	NP_006647	A8K327	A8K327_HUMAN	Homo sapiens sialidase 3 (membrane sialidase) (NEU3), mRNA.	223										kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						TCTTTTGCTTCCAGCTACCAT	0.517000														54			11		0	0	0.000673444	0	0
GCC2	9648	broad.mit.edu	37	2	109116207	109116207	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:109116207C>T	uc002tec.3	+	21	5135	c.4981C>T	c.(4981-4983)Caa>Taa	p.Q1661*	GCC2_uc002ted.3_Nonsense_Mutation_p.Q1560*	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	Homo sapiens GRIP and coiled-coil domain containing 2 (GCC2), transcript variant 1, mRNA.	1661	Mediates interaction with RAB9A.				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						TGCGGTTGCTCAAGGTGGGTA	0.408000														129			15		0	0	0.00229938	0	0
SMO	6608	broad.mit.edu	37	7	128846357	128846357	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:128846357G>A	uc003vor.3	+	5	1473	c.1193G>A	c.(1192-1194)cGa>cAa	p.R398Q	SMO_uc003vos.3_Missense_Mutation_p.R73Q	NM_005631	NP_005622	Q99835	SMO_HUMAN	Homo sapiens smoothened, frizzled family receptor (SMO), mRNA.	398					adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AAGAACTACCGATACCGTGCG	0.602000			Mis		skin basal cell									104			16		0	0	0.000422831	0	0
NTN4	59277	broad.mit.edu	37	12	96076520	96076520	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:96076520C>T	uc001tei.3	-	6	1922	c.1473G>A	c.(1471-1473)tgG>tgA	p.W491*	NTN4_uc009ztf.3_Nonsense_Mutation_p.W491*|NTN4_uc009ztg.3_Nonsense_Mutation_p.W454*	NM_021229	NP_067052	Q9HB63	NET4_HUMAN	Homo sapiens netrin 4 (NTN4), mRNA.	491					axon guidance	basement membrane|plasma membrane				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						GCGCATCCTCCCACTCCCAGG	0.463000														53			10		0	0	0.000673444	0	0
SMR3A	26952	broad.mit.edu	37	4	71255473	71255473	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:71255473C>T	uc011cas.2	+	2	229	c.148C>T	c.(148-150)Cct>Tct	p.P50S	SMR3A_uc003hfh.3_Missense_Mutation_p.P50S	NM_006685	NP_006676	Q99954	SMR3A_HUMAN	Homo sapiens submaxillary gland androgen regulated protein 3B (SMR3B), mRNA.	54	Pro-rich.					extracellular region				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				TCCACCACCTCCTCCTCCACC	0.602000														24			6		0	0	0.00116845	0	0
THBS2	7058	broad.mit.edu	37	6	169648776	169648776	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:169648776G>A	uc003qwt.3	-	3	593	c.345C>T	c.(343-345)atC>atT	p.I115I		NM_003247	NP_003238	P35442	TSP2_HUMAN	Homo sapiens thrombospondin 2 (THBS2), mRNA.	115	Heparin-binding (Potential).|TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	p.I115I(2)		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)		CGTTGGAGACGATCTCGAACT	0.657000														40			16		0	0	0.00074312	0	0
TRAK1	22906	broad.mit.edu	37	3	42230613	42230613	+	Silent	SNP	C	T	T	rs141503991	byFrequency	TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:42230613C>T	uc003cky.3	+	5	903	c.687C>T	c.(685-687)tcC>tcT	p.S229S	TRAK1_uc011azh.2_Silent_p.S229S|TRAK1_uc011azi.2_Silent_p.S229S|TRAK1_uc003ckz.4_Silent_p.S155S|TRAK1_uc011azj.2_Silent_p.S155S|TRAK1_uc003cla.3_Silent_p.S171S	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	Homo sapiens trafficking protein, kinesin binding 1 (TRAK1), transcript variant 1, mRNA.	229	HAP1 N-terminal.				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						TACTTCGATCCGAGGTGATGT	0.493000														32			6		0	0	0.00198382	0	0
TNFSF10	8743	broad.mit.edu	37	3	172232725	172232725	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:172232725C>T	uc003fid.3	-	1	319	c.196G>A	c.(196-198)Gac>Aac	p.D66N	TNFSF10_uc021xhk.1_Non-coding_Transcript|TNFSF10_uc003fie.3_Missense_Mutation_p.D66N	NM_003810	NP_003801	P50591	TNF10_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 10 (TNFSF10), transcript variant 1, mRNA.	66					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			TCATTGGGGTCCCAATAACTG	0.448000														93			21		0	0	0.00152264	0	0
SLC4A1	6521	broad.mit.edu	37	17	42338085	42338085	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:42338085C>T	uc002igf.4	-	4	416	c.267G>A	c.(265-267)ggG>ggA	p.G89G	SLC4A1_uc021tyc.1_Silent_p.G89G	NM_000342	NP_000333	P02730	B3AT_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA.	89					bicarbonate transport|cellular ion homeostasis	Z disc|basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CCCCATTCTCCCCCAGGTTCT	0.627000														21			6		0	0	0.00116845	0	0
L2HGDH	79944	broad.mit.edu	37	14	50750674	50750674	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr14:50750674G>A	uc001wxu.3	-	4	697	c.618C>T	c.(616-618)ttC>ttT	p.F206F	L2HGDH_uc010tqn.2_Silent_p.F206F|L2HGDH_uc010tqo.1_Silent_p.F206F	NM_024884	NP_079160	Q9H9P8	L2HDH_HUMAN	Homo sapiens L-2-hydroxyglutarate dehydrogenase (L2HGDH), nuclear gene encoding mitochondrial protein, mRNA.	206					2-oxoglutarate metabolic process|cellular protein metabolic process	integral to mitochondrial inner membrane	2-hydroxyglutarate dehydrogenase activity			kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10	all_epithelial(31;0.000599)|Breast(41;0.0102)					CTGCTTCTTGGAAATCCTGGG	0.408000														62			11		0	0	0.00185496	0	0
SOSTDC1	25928	broad.mit.edu	37	7	16505095	16505095	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:16505095G>A	uc003sth.3	-	2	912	c.199C>T	c.(199-201)Cgg>Tgg	p.R67W	SOSTDC1_uc003stg.3_Missense_Mutation_p.R67W	NM_015464	NP_056279	Q6X4U4	SOSD1_HUMAN	Homo sapiens sclerostin domain containing 1 (SOSTDC1), mRNA.	67					Wnt receptor signaling pathway					central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(2)	6	Lung NSC(10;0.185)			UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		TTACTGTTCCGATCCAGTCCA	0.408000														63			16		0	0	0.00152264	0	0
NPR2	4882	broad.mit.edu	37	9	35809185	35809185	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr9:35809185G>A	uc003zyd.3	+	20	3019	c.3019G>A	c.(3019-3021)Gat>Aat	p.D1007N	NPR2_uc010mlb.3_Missense_Mutation_p.D983N|SPAG8_uc003zye.3_Intron	NM_003995	NP_003986	P20594	ANPRB_HUMAN	Homo sapiens natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) (NPR2), mRNA.	1007					intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	TACCACCAAGGATGCCCTAGA	0.542000														89			27		0	0	0.001512	0	0
CNBP	7555	broad.mit.edu	37	3	128890366	128890366	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:128890366G>A	uc021xdu.1	-	1	154	c.140C>T	c.(139-141)tCc>tTc	p.S47F	CNBP_uc021xdt.1_Missense_Mutation_p.S40F|CNBP_uc003elr.4_Missense_Mutation_p.S40F|CNBP_uc003elq.4_Missense_Mutation_p.S47F|CNBP_uc021xdv.1_Missense_Mutation_p.S40F|CNBP_uc021xdw.1_Missense_Mutation_p.S47F|CNBP_uc011bku.2_Intron	NM_001127192	NP_001120664	P62633	CNBP_HUMAN	Homo sapiens CCHC-type zinc finger, nucleic acid binding protein (CNBP), transcript variant 1, mRNA.	47					cholesterol biosynthetic process	endoplasmic reticulum	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			biliary_tract(1)|endometrium(1)|kidney(1)|lung(2)	5						AAGAGACGAGGAAACAAACTG	0.383000														43			8		0	0	0.000157383	0	0
DNAH3	55567	broad.mit.edu	37	16	21042505	21042505	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr16:21042505C>T	uc010vbe.2	-	36	5301	c.5301G>A	c.(5299-5301)tgG>tgA	p.W1767*		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1767	AAA 2 (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)		CACCATCCATCCACTCGTGGC	0.502000														61			7		0	0	0.000274275	0	0
ALDH3B1	221	broad.mit.edu	37	11	67789249	67789249	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:67789249C>T	uc010rpy.2	+	7	971	c.855C>T	c.(853-855)atC>atT	p.I285I	ALDH3B1_uc001omz.3_Silent_p.I285I|ALDH3B1_uc001ona.3_Silent_p.I249I|ALDH3B1_uc001onb.3_Non-coding_Transcript	NM_001161473	NP_001154945	P43353	AL3B1_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member B1 (ALDH3B1), transcript variant 3, mRNA.	286					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase									NADH(DB00157)	GCCGCATCATCAACCAGAAAC	0.637000											OREG0021141	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		76			21		0	0	0.00229938	0	0
WHSC1	7468	broad.mit.edu	37	4	1920195	1920195	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:1920195G>A	uc003gdz.4	+	4	1431	c.1255G>A	c.(1255-1257)Ggg>Agg	p.G419R	WHSC1_uc003geb.4_Missense_Mutation_p.G419R|WHSC1_uc003gec.4_Missense_Mutation_p.G419R|WHSC1_uc003ged.4_Missense_Mutation_p.G419R|WHSC1_uc003gee.4_Non-coding_Transcript|WHSC1_uc003gef.4_Non-coding_Transcript|WHSC1_uc003gdx.3_Missense_Mutation_p.G419R|WHSC1_uc003gdy.1_Missense_Mutation_p.G419R|WHSC1_uc010icd.1_Missense_Mutation_p.G419R|WHSC1_uc003gea.1_Missense_Mutation_p.G419R|WHSC1_uc010ice.1_Missense_Mutation_p.G419R|WHSC1_uc003geh.1_Missense_Mutation_p.G419R	NM_001042424	NP_579890	O96028	NSD2_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 1 (WHSC1), transcript variant 10, mRNA.	419					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		CCCCGACATAGGGAAGAGTAC	0.557000			T	IGH@	MM									18			4		0	0	0.00116845	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34831899	34831900	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:34831899_34831900GG>AA	uc003oju.4	+	14	3570_3571	c.3336_3337GG>AA	c.(3334-3339)ttggat>ttAAat	p.D1113N	UHRF1BP1_uc010jvm.2_Non-coding_Transcript|UHRF1BP1_uc010jvn.3_Non-coding_Transcript|UHRF1BP1_uc010jvo.3_Intron	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	Homo sapiens UHRF1 binding protein 1 (UHRF1BP1), mRNA.	1113										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						GTGTCTCATTGGATAGCAGTGG	0.525000														109			19		0	0	6.4e-05	0	0
DNAH5	1767	broad.mit.edu	37	5	13766189	13766189	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:13766189T>A	uc003jfd.2	-	58	10039	c.9997A>T	c.(9997-9999)Aaa>Taa	p.K3333*	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3333	Stalk (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)					GCACTGACTTTCCTTTGAAAC	0.502000									Kartagener syndrome					82			12		0	0	0.000422831	0	0
ASPRV1	151516	broad.mit.edu	37	2	70188299	70188299	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:70188299G>A	uc002sfz.4	-	0	1099	c.522C>T	c.(520-522)gtC>gtT	p.V174V		NM_152792	NP_690005	Q53RT3	APRV1_HUMAN	Homo sapiens aspartic peptidase, retroviral-like 1 (ASPRV1), mRNA.	174					protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						CAGCCCCAGGGACCCCAAAGG	0.592000														23			9		0	0	0.000442599	0	0
SAFB2	9667	broad.mit.edu	37	19	5594006	5594006	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:5594006C>T	uc002mcd.3	-	14	2315	c.2103G>A	c.(2101-2103)gaG>gaA	p.E701E		NM_014649	NP_055464	Q14151	SAFB2_HUMAN	Homo sapiens scaffold attachment factor B2 (SAFB2), mRNA.	701	Arg-rich.|Glu-rich.|Interacts with SAFB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|RNA binding|nucleotide binding|protein 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)		TGCGCTCCTGCTCCTTCCTGC	0.741000														6			5		0	0	0.000602214	0	0
TEX26	122046	broad.mit.edu	37	13	31513852	31513852	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr13:31513852C>T	uc001uti.3	+	1	102	c.83C>T	c.(82-84)tCc>tTc	p.S28F		NM_152325	NP_689538	Q8N6G2	CM026_HUMAN	Homo sapiens chromosome 13 open reading frame 26 (C13orf26), mRNA.	28																	AACTGGGATTCCTATGCTACC	0.353000														50			5		0	0	0.000602214	0	0
PLSCR2	57047	broad.mit.edu	37	3	146173214	146173214	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:146173214C>T	uc021xfa.1	-	5	792	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K	PLSCR2_uc003evw.2_Missense_Mutation_p.E114K|PLSCR2_uc003evv.2_Missense_Mutation_p.E45K	NM_001199978	NP_001186907	Q9NRY7	PLS2_HUMAN	Homo sapiens phospholipid scramblase 2 (PLSCR2), transcript variant 1, mRNA.	45					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity			endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						TTCTTGATTTCATACATGTTA	0.328000														80			14		0	0	0.00244969	0	0
TNXB	7148	broad.mit.edu	37	6	32065690	32065690	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:32065690G>A	uc003nzl.2	-	1	488	c.286C>T	c.(286-288)Ctt>Ttt	p.L96F	TNXB_uc010jts.1_Missense_Mutation_p.L95F|ATF6B_uc003nzm.1_3'UTR	NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	96					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCTGAAGCAAGGACTGGGGGC	0.612000														196			26		0	0	0.000720815	0	0
TUB	7275	broad.mit.edu	37	11	8111203	8111203	+	Missense_Mutation	SNP	C	T	T	rs139035034		TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:8111203C>T	uc001mga.3	+	1	234	c.85C>T	c.(85-87)Cgg>Tgg	p.R29W	TUB_uc010rbk.2_Missense_Mutation_p.R35W|TUB_uc001mfy.3_Missense_Mutation_p.R84W	NM_177972	NP_813977	P50607	TUB_HUMAN	Homo sapiens tubby homolog (mouse) (TUB), transcript variant 2, mRNA.	29					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		GAAGCTTGATCGGCAGGTGAG	0.592000														40			6		0	0	0.000673444	0	0
ALOXE3	59344	broad.mit.edu	37	17	8015463	8015463	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:8015463C>T	uc002gka.3	-	5	1231	c.1200G>A	c.(1198-1200)aaG>aaA	p.K400K	ALOXE3_uc010cnr.3_Silent_p.K244K|ALOXE3_uc010vuo.2_Silent_p.K376K|ALOXE3_uc010vup.2_Non-coding_Transcript	NM_021628	NP_067641	Q9BYJ1	LOXE3_HUMAN	Homo sapiens arachidonate lipoxygenase 3 (ALOXE3), transcript variant 2, mRNA.	244	Lipoxygenase.				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						CATCCAGCTTCTTCCAGGAGC	0.542000														134			20		0	0	0.000878237	0	0
ARHGAP12	94134	broad.mit.edu	37	10	32150514	32150514	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:32150514G>A	uc001ivz.1	-	3	1027	c.757C>T	c.(757-759)Cag>Tag	p.Q253*	ARHGAP12_uc001ivy.1_Nonsense_Mutation_p.Q251*|ARHGAP12_uc009xls.2_Nonsense_Mutation_p.Q251*|ARHGAP12_uc001iwb.1_Nonsense_Mutation_p.Q251*|ARHGAP12_uc001iwc.1_Nonsense_Mutation_p.Q251*|ARHGAP12_uc009xlq.1_Nonsense_Mutation_p.Q251*|ARHGAP12_uc009xlr.1_Nonsense_Mutation_p.Q251*	NM_018287	NP_060757	Q8IWW6	RHG12_HUMAN	Homo sapiens Rho GTPase activating protein 12 (ARHGAP12), mRNA.	253					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				AGAGCAGACTGGGATATTTTC	0.428000														40			9		0	0	0.000274275	0	0
CYP2C9	1559	broad.mit.edu	37	10	96698519	96698519	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:96698519G>A	uc001kka.4	+	0	105	c.80G>A	c.(79-81)gGa>gAa	p.G27E	CYP2C9_uc009xut.3_Missense_Mutation_p.G27E|CYP2C9_uc001kjz.3_Missense_Mutation_p.G27E	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	27					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)	TCTGGGAGAGGAAAACTCCCT	0.458000														43			5		0	0	0.00116845	0	0
PI16	221476	broad.mit.edu	37	6	36931667	36931667	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:36931667C>T	uc021yzd.1	+	6	1562	c.1339C>T	c.(1339-1341)Cct>Tct	p.P447S	PI16_uc003omz.1_Missense_Mutation_p.P254S|PI16_uc003ona.3_Missense_Mutation_p.P447S|PI16_uc011dts.1_Missense_Mutation_p.P218S	NM_001199159	NP_001186088	Q6UXB8	PI16_HUMAN	Homo sapiens peptidase inhibitor 16 (PI16), transcript variant 2, mRNA.	447						extracellular region|integral to membrane	peptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGTGTGGGGCCCTCTCCTGGG	0.617000														33			4		0	0	0.00024832	0	0
MAPK4	5596	broad.mit.edu	37	18	48190682	48190682	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr18:48190682G>A	uc002lev.3	+	1	1354	c.354G>A	c.(352-354)caG>caA	p.Q118Q	MAPK4_uc010xdm.2_Intron|MAPK4_uc010doz.3_Silent_p.Q118Q	NM_002747	NP_002738	P31152	MK04_HUMAN	Homo sapiens mitogen-activated protein kinase 4 (MAPK4), mRNA.	118	Protein kinase.				cell cycle		ATP binding|MAP kinase activity	p.Q118Q(2)		lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		TGCTGGAGCAGGGCACGCTGG	0.612000														29			6		0	0	0.00116845	0	0
ZBED2	79413	broad.mit.edu	37	3	111312559	111312559	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:111312559C>T	uc003dxy.3	-	1	1391	c.490G>A	c.(490-492)Gaa>Aaa	p.E164K	CD96_uc003dxv.3_Intron|CD96_uc003dxw.3_Intron|CD96_uc003dxx.3_Intron|CD96_uc010hpy.1_Intron|ZBED2_uc021xci.1_Missense_Mutation_p.E164K	NM_024508	NP_078784	Q9BTP6	ZBED2_HUMAN	Homo sapiens zinc finger, BED-type containing 2 (ZBED2), mRNA.	164							DNA binding|metal ion binding			large_intestine(3)|lung(1)|skin(2)	6						ACTGCCCTTTCCCTCCTAAGC	0.607000														50			17		0	0	0.000958276	0	0
COL5A3	50509	broad.mit.edu	37	19	10071562	10071562	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:10071562G>A	uc002mmq.1	-	65	4942	c.4856C>T	c.(4855-4857)tCc>tTc	p.S1619F		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	1619	Fibrillar collagen NC1.				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)			GTCCACGTAGGAGAACTGGTG	0.592000														52			13		0	0	0.00185496	0	0
EGFLAM	133584	broad.mit.edu	37	5	38427349	38427349	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:38427349C>T	uc003jlc.2	+	13	2395	c.2049C>T	c.(2047-2049)gtC>gtT	p.V683V	EGFLAM_uc003jlb.2_Silent_p.V683V|EGFLAM_uc003jle.2_Silent_p.V449V|EGFLAM_uc003jlf.2_Silent_p.V49V	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	683	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)					GGACCGGTGTCCTCAGGTGAG	0.502000														91			10		0	0	0.00185496	0	0
IQCE	23288	broad.mit.edu	37	7	2634551	2634551	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:2634551C>T	uc003sml.1	+	15	1565	c.1381C>T	c.(1381-1383)Caa>Taa	p.Q461*	IQCE_uc010ksm.1_Nonsense_Mutation_p.Q461*|IQCE_uc011jvy.1_Nonsense_Mutation_p.Q445*|IQCE_uc011jvz.1_Nonsense_Mutation_p.Q396*|IQCE_uc003smo.4_Nonsense_Mutation_p.Q461*|IQCE_uc003smk.4_Nonsense_Mutation_p.Q445*|IQCE_uc003smn.4_Nonsense_Mutation_p.Q396*	NM_152558	NP_689771	Q6IPM2	IQCE_HUMAN	Homo sapiens IQ motif containing E (IQCE), transcript variant 1, mRNA.	461										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		CAGCAAGCTCCAAGAATTGCA	0.498000														114			20		0	0	0.00278032	0	0
SCN11A	11280	broad.mit.edu	37	3	38888258	38888258	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:38888258G>A	uc021wvy.1	-	25	5502	c.5303C>T	c.(5302-5304)tCa>tTa	p.S1768L		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1768					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)	CTGGAGTGGTGAATGAGGCCC	0.507000														32			9		0	0	0.000442599	0	0
AGRN	375790	broad.mit.edu	37	1	982006	982006	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:982006C>T	uc001ack.2	+	17	3191	c.3141C>T	c.(3139-3141)tcC>tcT	p.S1047S		NM_198576	NP_940978	O00468	AGRIN_HUMAN	Homo sapiens agrin (AGRN), mRNA.	1047	Ser/Thr-rich.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CGGCACCCTCCCCTGCACCCA	0.692000														14			5		0	0	0.00116845	0	0
KCNMB2	10242	broad.mit.edu	37	3	178543499	178543499	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:178543499G>A	uc003fjd.3	+	2	523	c.180G>A	c.(178-180)atG>atA	p.M60I	AF279780_uc003fjb.1_Intron|AF279780_uc003fjc.1_Intron|KCNMB2_uc003fje.3_Missense_Mutation_p.M60I|KCNMB2_uc003fjf.3_Missense_Mutation_p.M60I|KCNMB2_uc011bqa.2_Missense_Mutation_p.M60I|KCNMB2_uc011bqb.2_Intron	NM_181361	NP_852006	Q9Y691	KCMB2_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, beta member 2 (KCNMB2), transcript variant 1, mRNA.	60					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction	voltage-gated potassium channel complex	calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)			GCTCCATCATGATGTATTTTC	0.527000														97			22		0	0	0.000586117	0	0
SEMA4F	10505	broad.mit.edu	37	2	74902083	74902083	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:74902083C>T	uc002sna.1	+	8	1181	c.1070C>T	c.(1069-1071)cCc>cTc	p.P357L	SEMA4F_uc021vjn.1_Missense_Mutation_p.P356L|SEMA4F_uc010ffq.1_Missense_Mutation_p.P324L|SEMA4F_uc010ffr.1_5'UTR|SEMA4F_uc002snb.1_5'UTR|SEMA4F_uc002snc.1_Missense_Mutation_p.P202L	NM_004263	NP_004254	O95754	SEM4F_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F (SEMA4F), mRNA.	357	Sema.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						CTGAATGGTCCCTTCAGAGAA	0.532000											OREG0014721	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		34			6		0	0	0.00198382	0	0
NAT10	55226	broad.mit.edu	37	11	34129802	34129802	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:34129802C>T	uc001mvk.3	+	1	274	c.30C>T	c.(28-30)atC>atT	p.I10I	NAT10_uc010ren.2_Intron	NM_024662	NP_078938	Q9H0A0	NAT10_HUMAN	Homo sapiens N-acetyltransferase 10 (GCN5-related) (NAT10), transcript variant 1, mRNA.	10						nucleolus	ATP binding|N-acetyltransferase activity|protein binding	p.R9*(1)		endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				ATAACCGAATCCGGATTCTCA	0.418000														124			16		0	0	0.000958276	0	0
TECTA	7007	broad.mit.edu	37	11	120980003	120980003	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:120980003C>T	uc010rzo.2	+	2	282	c.282C>T	c.(280-282)gcC>gcT	p.A94A		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	94					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ATGGGAGAGCCTTCGTCGCCC	0.493000														26			5		0	0	0.00116845	0	0
CASR	846	broad.mit.edu	37	3	121980683	121980683	+	Silent	SNP	C	T	T	rs148721982		TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:121980683C>T	uc003eew.4	+	3	1239	c.801C>T	c.(799-801)atC>atT	p.I267I	CASR_uc003eev.4_Silent_p.I267I	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	267					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	p.I267I(2)		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)	CCAAAGTCATCGTGGTTTTCT	0.527000														73			25		0	0	0.00278032	0	0
C1orf173	127254	broad.mit.edu	37	1	75037329	75037329	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:75037329C>T	uc001dgg.3	-	13	4284	c.4065G>A	c.(4063-4065)gaG>gaA	p.E1355E		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	1355	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCTCCCTCTCCTCTGCGGCTG	0.522000														72			15		0	0	0.000958276	0	0
CYP2D7P1	1564	broad.mit.edu	37	22	42537223	42537223	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr22:42537223G>A	uc003bci.3	-	6	1223	c.842C>T	c.(841-843)cCc>cTc	p.P281L	CYP2D7P1_uc003bcg.3_Missense_Mutation_p.P25L|CYP2D7P1_uc010gyv.3_Missense_Mutation_p.P65L|CYP2D7P1_uc010gyw.3_Non-coding_Transcript|CYP2D7P1_uc021wqk.1_Non-coding_Transcript|CYP2D7P1_uc010gyx.1_3'UTR					Homo sapiens cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 1 (CYP2D7P1), non-coding RNA.											endometrium(1)	1						CACACTCAGGGGGATGATGTC	0.602000														9			5		0	0	0.000602214	0	0
MLL2	8085	broad.mit.edu	37	19	36218841	36218841	+	Silent	SNP	C	G	G			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:36218841C>G	uc021usv.1	+	17	4452	c.4452C>G	c.(4450-4452)acC>acG	p.T1484T	MLL2_uc021usu.1_Silent_p.T298T	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	0	Cys-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						AGGGAGAGACCCCGGACCGCC	0.632000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				16			3		0	0	6.4e-05	0	0
HOXB1	3211	broad.mit.edu	37	17	46607031	46607031	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:46607031C>T	uc002ink.1	-	1	790	c.784G>A	c.(784-786)Gag>Aag	p.E262K	HOXB1_uc021tzf.1_3'UTR	NM_002144	NP_002135	P14653	HXB1_HUMAN	Homo sapiens homeobox B1 (HOXB1), mRNA.	262						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity	p.R261H(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TCCTCTCGCTCGCGCTTCTTC	0.632000														86			19		0	0	0.00121646	0	0
SLITRK4	139065	broad.mit.edu	37	X	142718884	142718884	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chrX:142718884G>A	uc022cfm.1	-	0	41	c.41C>T	c.(40-42)tCt>tTt	p.S14F	SLITRK4_uc022cfl.1_Missense_Mutation_p.S14F|SLITRK4_uc004fbx.3_Missense_Mutation_p.S14F|SLITRK4_uc004fby.3_Missense_Mutation_p.S14F	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	Homo sapiens SLIT and NTRK-like family, member 4 (SLITRK4), transcript variant 2, mRNA.	14						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					ATTTGTCGAAGAAATCAGGGC	0.378000														13			8		0	0	0.000157383	0	0
OR5D13	390142	broad.mit.edu	37	11	55541205	55541205	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:55541205G>A	uc010ril.2	+	0	292	c.292G>A	c.(292-294)Ggt>Agt	p.G98S		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.	98					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)				CTCTTTCTCTGGTTGCATCAT	0.408000														52			10		0	0	0.00185496	0	0
DOCK8	81704	broad.mit.edu	37	9	325674	325674	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr9:325674C>T	uc003zgf.2	+	7	943	c.831C>T	c.(829-831)ttC>ttT	p.F277F	DOCK8_uc011lls.1_Silent_p.F277F|DOCK8_uc022bcu.1_Silent_p.F209F|DOCK8_uc010mgv.3_Silent_p.F209F|DOCK8_uc010mgu.3_5'UTR|DOCK8_uc003zgg.3_Silent_p.F209F|DOCK8_uc022bct.1_Non-coding_Transcript	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	277					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		ATGGTAGGTTCGAGATTGAAA	0.358000														88			15		0	0	0.000958276	0	0
NOP56	10528	broad.mit.edu	37	20	2636275	2636275	+	Silent	SNP	C	T	T	rs147425088	byFrequency	TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr20:2636275C>T	uc002wgh.3	+	6	921	c.792C>T	c.(790-792)atC>atT	p.I264I	NOP56_uc010zpy.2_Non-coding_Transcript|NOP56_uc002wgi.3_Silent_p.I98I	NM_006392	NP_006383	O00567	NOP56_HUMAN	Homo sapiens NOP56 ribonucleoprotein homolog (yeast) (NOP56), transcript variant 1, mRNA.	264	Nop.				rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding	p.I264I(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						TGATAAACATCGAGAGCTTCT	0.498000														81			15		0	0	0.000566183	0	0
KLHL22	84861	broad.mit.edu	37	22	20819739	20819739	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr22:20819739G>A	uc002zsl.2	-	3	675	c.518C>T	c.(517-519)aCc>aTc	p.T173I	KLHL22_uc011ahr.2_Missense_Mutation_p.T30I	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	Homo sapiens kelch-like 22 (Drosophila) (KLHL22), transcript variant 1, mRNA.	173					cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GAGGATATAGGTGTCCAGTTG	0.527000														49			32		0	0	0.00111076	0	0
OR4A47	403253	broad.mit.edu	37	11	48510633	48510633	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:48510633G>A	uc010rhx.2	+	0	289	c.289G>A	c.(289-291)Gcc>Acc	p.A97T		NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 47 (OR4A47), mRNA.	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						ATCTTGCATGGCCCAGCTCTT	0.423000														42			5		0	0	0.00116845	0	0
UGT3A2	167127	broad.mit.edu	37	5	36049059	36049059	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:36049059G>A	uc003jjz.2	-	3	907	c.775C>T	c.(775-777)Cga>Tga	p.R259*	UGT3A2_uc011cos.2_Nonsense_Mutation_p.R225*|UGT3A2_uc011cot.2_Intron	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	259						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGCAGAGGTCGAGCAAAATCA	0.423000														39			5		0	0	0.000602214	0	0
NRK	203447	broad.mit.edu	37	X	105181565	105181565	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chrX:105181565A>T	uc004emd.3	+	21	4093	c.3790A>T	c.(3790-3792)Acc>Tcc	p.T1264S	NRK_uc010npc.1_Missense_Mutation_p.T932S	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	1264	CNH.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TTTGCTGATTACCATCTCAGG	0.373000										HNSCC(51;0.14)				9			5		0	0	0.00116845	0	0
KIAA1210	57481	broad.mit.edu	37	X	118222828	118222828	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chrX:118222828C>T	uc004era.4	-	10	2365	c.2365G>A	c.(2365-2367)Gag>Aag	p.E789K		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	789										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						CCATCCCCCTCCTCAGGAATA	0.453000														13			9		0	0	0.00136819	0	0
COL4A5	1287	broad.mit.edu	37	X	107814676	107814676	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chrX:107814676C>T	uc022ccg.1	+	6	620	c.418C>T	c.(418-420)Cct>Tct	p.P140S	COL4A5_uc004enz.1_Missense_Mutation_p.P140S	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	140	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TCCCGGTTTTCCTGGTTTACA	0.388000									Alport syndrome with Diffuse Leiomyomatosis					64			26		0	0	0.00178596	0	0
MUC17	140453	broad.mit.edu	37	7	100684088	100684088	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:100684088G>A	uc003uxp.1	+	2	9444	c.9391G>A	c.(9391-9393)Gac>Aac	p.D3131N	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3131	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACTCCTGTTGACACCAGCAC	0.493000														165			88		0	0	0.000781405	0	0
GRID1	2894	broad.mit.edu	37	10	87614358	87614358	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:87614358G>A	uc001kdl.1	-	7	1229	c.1128C>T	c.(1126-1128)ggC>ggT	p.G376G	GRID1_uc009xsu.1_Non-coding_Transcript	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	376						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)	CCCCAGTGAGGCCAGTGATGT	0.493000										Multiple Myeloma(13;0.14)				34			7		0	0	0.00198382	0	0
VAT1	10493	broad.mit.edu	37	17	41174290	41174290	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:41174290G>A	uc002icm.1	-	0	170	c.50C>T	c.(49-51)tCt>tTt	p.S17F	VAT1_uc010cyw.1_5'Flank|VAT1_uc010whk.1_Missense_Mutation_p.S17F|RND2_uc002icn.3_5'Flank	NM_006373	NP_006364	Q99536	VAT1_HUMAN	Homo sapiens vesicle amine transport protein 1 homolog (T. californica) (VAT1), mRNA.	17						cytoplasm|integral to membrane	oxidoreductase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		AGGCGGCGAAGAGGCGTCTTC	0.721000														12			4		0	0	0.000602214	0	0
LMTK2	22853	broad.mit.edu	37	7	97780697	97780697	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:97780697G>T	uc003upd.2	+	3	673	c.380G>T	c.(379-381)gGa>gTa	p.G127V		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	Homo sapiens lemur tyrosine kinase 2 (LMTK2), mRNA.	127					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	Golgi apparatus|early endosome|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TCTACAGAGGGATTGAAGTCT	0.323000														60			13		7.93312e-07	3.92693e-06	0.00244969	1	0
CCDC141	285025	broad.mit.edu	37	2	179720257	179720257	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:179720257C>T	uc002une.2	-	18	2995	c.2877G>A	c.(2875-2877)agG>agA	p.R959R	CCDC141_uc002unf.1_Silent_p.R438R	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	384							protein binding	p.R384R(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TTTCCATTTTCCTTTTCAAAG	0.274000														35			4		0	0	0.00024832	0	0
AGAP3	116988	broad.mit.edu	37	7	150831497	150831497	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:150831497A>G	uc003wjg.1	+	10	1340	c.1337A>G	c.(1336-1338)cAg>cGg	p.Q446R	AGAP3_uc003wje.1_Missense_Mutation_p.Q218R|AGAP3_uc003wjj.1_Missense_Mutation_p.Q2R	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 (AGAP3), transcript variant 1, mRNA.	410	PH.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						GATTACATGCAGAACATCCAC	0.612000														93			11		0	0	0.00185496	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125521715	125521715	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:125521715G>A	uc010flu.3	+	15	2888	c.2524G>A	c.(2524-2526)Gaa>Aaa	p.E842K	CNTNAP5_uc002tno.3_Missense_Mutation_p.E841K	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	841	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CATTCGACTCGAAATAAGCTG	0.373000														30			11		0	0	0.00185496	0	0
ANKRD50	57182	broad.mit.edu	37	4	125593057	125593057	+	Silent	SNP	A	G	G			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:125593057A>G	uc010inw.3	-	3	2413	c.1375T>C	c.(1375-1377)Tta>Cta	p.L459L	ANKRD50_uc011cgo.2_Silent_p.L280L	NM_020337	NP_001161354	Q9ULJ7	ANR50_HUMAN	Homo sapiens ankyrin repeat domain 50 (ANKRD50), transcript variant 1, mRNA.	459										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						GAGTTAATTAAGTGCAATGCA	0.388000														46			6		0	0	0.00198382	0	0
RELN	5649	broad.mit.edu	37	7	103341446	103341446	+	Silent	SNP	A	G	G			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:103341446A>G	uc022ajr.1	-	8	973	c.813T>C	c.(811-813)ggT>ggC	p.G271G	RELN_uc022ajq.1_Silent_p.G271G|RELN_uc010liz.3_Silent_p.G271G	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	271					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)		AGCGACATGAACCTGACCCTG	0.313000														34			27		0	0	0.00106085	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814062	106814062	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr8:106814062C>T	uc003ymd.3	+	7	1775	c.1752C>T	c.(1750-1752)ttC>ttT	p.F584F	ZFPM2_uc011lhs.2_Silent_p.F315F	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	584					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)			CCCCAGAGTTCCCTAGTGTGT	0.443000														73			11		0	0	0.00185496	0	0
CASR	846	broad.mit.edu	37	3	121980842	121980842	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:121980842C>T	uc003eew.4	+	3	1398	c.960C>T	c.(958-960)ttC>ttT	p.F320F	CASR_uc003eev.4_Silent_p.F320F	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	320					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)	CCATTGGATTCGCTCTGAAGG	0.577000														38			7		0	0	0.000157383	0	0
TARBP2	6895	broad.mit.edu	37	12	53898929	53898929	+	Silent	SNP	T	G	G			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:53898929T>G	uc001sdo.3	+	6	1112	c.624T>G	c.(622-624)acT>acG	p.T208T	TARBP2_uc001sdp.3_Silent_p.T187T|TARBP2_uc001sdr.3_Silent_p.T64T|TARBP2_uc001sdt.3_Silent_p.T187T	NM_134323	NP_599151	Q15633	TRBP2_HUMAN	Homo sapiens TAR (HIV-1) RNA binding protein 2 (TARBP2), transcript variant 1, mRNA.	208	DRBM 2.|Sufficient for interaction with PRKRA.				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	RNA-induced silencing complex|cytosol|nucleus|perinuclear region of cytoplasm	double-stranded RNA binding|protein homodimerization activity|siRNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						GGAGTGGCACTTCCAAAAAAT	0.577000														75			8		0	0	0.000442599	0	0
OR7G1	125962	broad.mit.edu	37	19	9226251	9226251	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:9226251G>A	uc021uoi.1	-	0	189	c.189C>T	c.(187-189)ctC>ctT	p.L63L	OR7G1_uc002mks.1_Silent_p.L63L	NM_001005192	NP_001005192	Q8NGA0	OR7G1_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 1 (OR7G1), mRNA.	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						AGAGATTAAAGAGAAGGAAGT	0.483000														93			14		0	0	0.00185496	0	0
ZDBF2	57683	broad.mit.edu	37	2	207162009	207162010	+	Missense_Mutation	DNP	AG	GA	GA			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:207162009_207162010AG>GA	uc002vbp.2	+	3	350_351	c.100_101AG>GA	c.(100-102)agt>GAt	p.S34D		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	34							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GACCAGACAGAGTAGACGTCAA	0.386000														41			8		0	0	6.4e-05	0	0
UNC13B	10497	broad.mit.edu	37	9	35295814	35295814	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr9:35295814C>T	uc003zwr.3	+	7	940	c.648C>T	c.(646-648)ttC>ttT	p.F216F	UNC13B_uc010mkl.1_Silent_p.F216F|UNC13B_uc003zwq.3_Silent_p.F216F	NM_006377	NP_006368	O14795	UN13B_HUMAN	Homo sapiens unc-13 homolog B (C. elegans) (UNC13B), mRNA.	216					excretion|induction of apoptosis|intracellular signal transduction	Golgi apparatus|cell junction|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			TGCACCAGTTCCCTGTGCCGG	0.537000														37			8		0	0	0.000157383	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37188291	37188291	+	RNA	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:37188291C>T	uc002hrd.1	+	0		c.2133C>T								Homo sapiens FLJ43826 protein (FLJ43826), non-coding RNA.																		GATGTTAAACCGTCTCCAACC	0.498000														49			8		0	0	0.000442599	0	0
OTOR	56914	broad.mit.edu	37	20	16729004	16729004	+	Splice_Site	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr20:16729004C>T	uc002wpj.3	+	1	1	c.-43_splice	c.e1-1			NM_020157	NP_064542	Q9NRC9	OTOR_HUMAN	Homo sapiens otoraplin (OTOR), mRNA.						sensory perception of sound	extracellular region				breast(1)|central_nervous_system(1)|endometrium(1)|liver(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						GAAGTCAGTCCCCGCTTCCAG	0.468000														23			6		0	0	0.00116845	0	0
ITGA7	3679	broad.mit.edu	37	12	56087071	56087071	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:56087071G>A	uc001shh.3	-	19	2798	c.2578C>T	c.(2578-2580)Ctg>Ttg	p.L860L	ITGA7_uc001shg.3_Silent_p.L856L|ITGA7_uc010sps.2_Silent_p.L763L|ITGA7_uc009znw.3_Silent_p.L103L|ITGA7_uc009znx.3_Silent_p.L737L	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.	900					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GCAGAGCCCAGGGTTCTGAGC	0.488000														40			11		0	0	0.000978159	0	0
NAP1L4	4676	broad.mit.edu	37	11	2979666	2979667	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:2979666_2979667GG>TT	uc010qxm.2	-	10	1138_1139	c.854_855CC>AA	c.(853-855)ccc>cAA	p.P285Q	NAP1L4_uc001lxc.3_Missense_Mutation_p.P285Q|NAP1L4_uc010qxn.2_Missense_Mutation_p.P285Q	NM_005969	NP_005960	Q99733	NP1L4_HUMAN	Homo sapiens nucleosome assembly protein 1-like 4 (NAP1L4), mRNA.	285					nucleosome assembly	chromatin assembly complex|cytoplasm	unfolded protein binding			endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)	13		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)		AGGACTCATTGGGTACTTGTTT	0.342000														481			14		0	0	6.4e-05	0	0
GRIA1	2890	broad.mit.edu	37	5	153190682	153190682	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:153190682G>A	uc011dcy.2	+	15	2675	c.2648G>A	c.(2647-2649)gGa>gAa	p.G883E	GRIA1_uc003lva.4_Missense_Mutation_p.G873E|GRIA1_uc003luy.4_Missense_Mutation_p.G873E|GRIA1_uc003luz.4_Missense_Mutation_p.G778E|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.G793E|GRIA1_uc011dcx.2_Missense_Mutation_p.G804E|GRIA1_uc011dcz.2_Missense_Mutation_p.G883E	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	873					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GGCGGCAGTGGAGAGAATGGT	0.582000														17			4		0	0	0.000602214	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156638365	156638365	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:156638365G>A	uc003iov.3	+	8	2163	c.1627G>A	c.(1627-1629)Gat>Aat	p.D543N	GUCY1A3_uc010iqc.2_Missense_Mutation_p.D543N|GUCY1A3_uc010iqd.3_Missense_Mutation_p.D542N|GUCY1A3_uc003iow.3_Missense_Mutation_p.D543N|GUCY1A3_uc003iox.3_Missense_Mutation_p.D543N|GUCY1A3_uc010iqe.3_Missense_Mutation_p.D308N|GUCY1A3_uc003ioy.3_Missense_Mutation_p.D543N|GUCY1A3_uc003ioz.3_Missense_Mutation_p.D308N|GUCY1A3_uc003ipa.3_Non-coding_Transcript|GUCY1A3_uc003ipb.3_Missense_Mutation_p.D543N	NM_000856	NP_001124157	Q02108	GCYA3_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA.	543	Guanylate cyclase.				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		CAAAGAGAGTGATACTCATGC	0.433000														18			7		0	0	0.00198382	0	0
OR4E2	26686	broad.mit.edu	37	14	22133973	22133973	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr14:22133973G>A	uc010tmd.2	+	0	677	c.677G>A	c.(676-678)cGa>cAa	p.R226Q		NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily E, member 2 (OR4E2), mRNA.	226					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)		GTTTCTCTTCGAAAACACTCA	0.502000														41			9		0	0	0.000442599	0	0
KCNH2	3757	broad.mit.edu	37	7	150647323	150647323	+	Silent	SNP	G	A	A	rs41307292		TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:150647323G>A	uc003wic.3	-	8	2732	c.2331C>T	c.(2329-2331)acC>acT	p.T777T	KCNH2_uc003wib.3_Silent_p.T437T|KCNH2_uc011kux.2_Silent_p.T681T|KCNH2_uc003wid.3_Silent_p.T437T|KCNH2_uc003wie.3_Silent_p.T777T	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA.	777					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	AGTACAGGGCGGTGAGCAGGT	0.662000														62			8		0	0	0.000157383	0	0
GPR171	29909	broad.mit.edu	37	3	150916261	150916261	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:150916261C>T	uc003eyq.4	-	2	1153	c.913G>A	c.(913-915)Gag>Aag	p.E305K	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron|GPR171_uc021xfy.1_Missense_Mutation_p.E305K	NM_013308	NP_037440	O14626	GP171_HUMAN	Homo sapiens G protein-coupled receptor 171 (GPR171), mRNA.	305						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCCTTGGTCTCTTTAGGTGAG	0.413000														42			9		0	0	0.000442599	0	0
SLC5A9	200010	broad.mit.edu	37	1	48695058	48695058	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:48695058G>A	uc001crn.2	+	4	558	c.506G>A	c.(505-507)cGa>cAa	p.R169Q	SLC5A9_uc010oms.1_Non-coding_Transcript|SLC5A9_uc001cro.2_Missense_Mutation_p.R144Q|SLC5A9_uc010omt.1_Missense_Mutation_p.R158Q|SLC5A9_uc001crp.2_5'UTR|SLC5A9_uc010omu.1_5'UTR	NM_001135181	NP_001128653	Q2M3M2	SC5A9_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 9 (SLC5A9), transcript variant 1, mRNA.	144						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						CTGAAGAAGCGATTTGGGGGC	0.557000														35			12		0	0	0.000978159	0	0
FILIP1	27145	broad.mit.edu	37	6	76023073	76023073	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:76023073C>T	uc010kbe.3	-	5	3014	c.2484G>A	c.(2482-2484)cgG>cgA	p.R828R	FILIP1_uc003phy.1_Silent_p.R825R|FILIP1_uc003phz.3_Silent_p.R726R|FILIP1_uc003pia.3_Silent_p.R825R|FILIP1_uc003pib.1_Silent_p.R577R	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	825								p.R825R(1)		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						GGAAGGATTTCCGTATGAATA	0.463000														108			25		0	0	0.00127121	0	0
PTENP1	11191	broad.mit.edu	37	9	33675964	33675964	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr9:33675964G>A	uc003zth.4	-	0	1455	c.584C>T	c.(583-585)tCa>tTa	p.S195L						Homo sapiens phosphatase and tensin homolog pseudogene 1 (PTENP1), non-coding RNA.																		TGTGGGTCCTGAATTGGAGGA	0.443000														62			16		0	0	0.00074312	0	0
CDH2	1000	broad.mit.edu	37	18	25572697	25572697	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr18:25572697G>A	uc002kwg.2	-	8	1725	c.1266C>T	c.(1264-1266)atC>atT	p.I422I	CDH2_uc010xbn.1_Silent_p.I391I	NM_001792	NP_001783	P19022	CADH2_HUMAN	Homo sapiens cadherin 2, type 1, N-cadherin (neuronal) (CDH2), mRNA.	422	Cadherin 3.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	p.R421T(1)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTCCGCCACTGATTCTGTACA	0.522000														43			5		0	0	0.000602214	0	0
IGDCC4	57722	broad.mit.edu	37	15	65677350	65677350	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr15:65677350G>T	uc002aou.1	-	18	3494	c.3284C>A	c.(3283-3285)cCc>cAc	p.P1095H	IGDCC4_uc002aot.1_Missense_Mutation_p.P683H	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 4 (IGDCC4), mRNA.	1095						integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TCCAGCAGGGGGCAGCAGGGC	0.672000											OREG0023195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		45			24		2.21704e-12	1.10274e-11	0.00278032	1	0
ALG2	85365	broad.mit.edu	37	9	101980325	101980325	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr9:101980325G>A	uc004azf.3	-	1	1212	c.1142C>T	c.(1141-1143)tCc>tTc	p.S381F	ALG2_uc004azg.3_Missense_Mutation_p.S288F	NM_033087	NP_149078	Q9H553	ALG2_HUMAN	Homo sapiens asparagine-linked glycosylation 2, alpha-1,3-mannosyltransferase homolog (S. cerevisiae) (ALG2), transcript variant 1, mRNA.	381					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein glycosylation in endoplasmic reticulum|response to calcium ion	endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein N-terminus binding|protein anchor|protein heterodimerization activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2)	22		Acute lymphoblastic leukemia(62;0.0559)				GGCTTTTAAGGAAGGTTCACG	0.488000														71			10		0	0	0.000673444	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140768692	140768692	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:140768692C>T	uc003lkc.2	+	0	1241	c.1241C>T	c.(1240-1242)cCa>cTa	p.P414L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_5'UTR	NM_003736	NP_003727	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA.	418	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCAGAATCCAGAGTACAAT	0.433000														122			19		0	0	0.000958276	0	0
OR1Q1	158131	broad.mit.edu	37	9	125377164	125377164	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr9:125377164C>T	uc011lyy.2	+	0	148	c.148C>T	c.(148-150)Ctc>Ttc	p.L50F		NM_012364	NP_036496	Q15612	OR1Q1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily Q, member 1 (OR1Q1), mRNA.	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						CACACTGATTCTCTCTGCTCC	0.498000														75			16		0	0	0.00121646	0	0
DFFB	1677	broad.mit.edu	37	1	3800162	3800162	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:3800162C>T	uc001alc.3	+	6	1197	c.874C>T	c.(874-876)Ctg>Ttg	p.L292L	DFFB_uc001ale.3_Non-coding_Transcript|DFFB_uc009vlp.3_Non-coding_Transcript|DFFB_uc001alb.3_Non-coding_Transcript|DFFB_uc010nzn.2_Silent_p.L316L|DFFB_uc009vlq.3_Non-coding_Transcript|DFFB_uc009vlr.3_Silent_p.L243L|DFFB_uc001ald.3_Silent_p.L228L	NM_004402	NP_004393	O76075	DFFB_HUMAN	Homo sapiens DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase) (DFFB), mRNA.	292					DNA fragmentation involved in apoptotic nuclear change|apoptotic chromosome condensation|intracellular signal transduction	cytosol|nucleoplasm	deoxyribonuclease activity|enzyme binding			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211)		Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		TTTTTATGGCCTGCTTTTTAC	0.428000														76			24		0	0	0.000878237	0	0
ALMS1	7840	broad.mit.edu	37	2	73678771	73678771	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:73678771C>T	uc002sje.1	+	7	5225	c.5114C>T	c.(5113-5115)tCa>tTa	p.S1705L	ALMS1_uc002sjf.1_Missense_Mutation_p.S1663L|ALMS1_uc002sjg.3_Missense_Mutation_p.S1093L|ALMS1_uc002sjh.1_Missense_Mutation_p.S1093L	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	1705	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GAGACACCATCAGTATCCTCT	0.453000														42			11		0	0	0.000978159	0	0
FUZ	80199	broad.mit.edu	37	19	50315587	50315587	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:50315587G>A	uc002ppq.2	-	2	443	c.239C>T	c.(238-240)aCc>aTc	p.T80I	FUZ_uc002ppt.2_Intron|FUZ_uc002ppu.2_Intron|FUZ_uc010ybd.2_Missense_Mutation_p.T80I	NM_025129	NP_079405	Q9BT04	FUZZY_HUMAN	Homo sapiens fuzzy homolog (Drosophila) (FUZ), transcript variant 1, mRNA.	80					cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway	cytoplasm|cytoskeleton				endometrium(1)|lung(3)	4		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		AACAATGAGGGTGATGCTGTG	0.507000														23			9		0	0	0.000978159	0	0
ZNF746	155061	broad.mit.edu	37	7	149171709	149171709	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:149171709G>A	uc010lpi.2	-	6	1975	c.1704C>T	c.(1702-1704)acC>acT	p.T568T	ZNF746_uc003wfw.2_Silent_p.T567T	NM_001163474	NP_001156946	Q6NUN9	ZN746_HUMAN	Homo sapiens zinc finger protein 746 (ZNF746), transcript variant 1, mRNA.	567					negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			AGACGGTGCAGGTGAAGGGCC	0.672000														27			4		0	0	0.000602214	0	0
C1QC	714	broad.mit.edu	37	1	22973765	22973765	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:22973765G>A	uc001bgc.4	+	2	330	c.227G>A	c.(226-228)gGa>gAa	p.G76E	C1QC_uc001bga.4_Missense_Mutation_p.G76E	NM_172369	NP_758957	P02747	C1QC_HUMAN	Homo sapiens complement component 1, q subcomponent, C chain (C1QC), transcript variant 2, mRNA.	76	Collagen-like.				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	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)	GGGCAGAAGGGAGAACCCGGC	0.642000														16			7		0	0	0.000442599	0	0
EDAR	10913	broad.mit.edu	37	2	109524406	109524406	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:109524406G>A	uc010fjn.3	-	9	1516	c.969C>T	c.(967-969)gcC>gcT	p.A323A	EDAR_uc010yws.2_Silent_p.A323A|EDAR_uc002teq.4_Silent_p.A291A	NM_022336	NP_071731	Q9UNE0	EDAR_HUMAN	Homo sapiens ectodysplasin A receptor (EDAR), mRNA.	291					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity	p.I322M(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						GCTTGTCAGGGGCGGGCTCCT	0.617000														19			5		0	0	0.00116845	0	0
WDR62	284403	broad.mit.edu	37	19	36590354	36590354	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:36590354C>T	uc002odd.2	+	21	2665	c.2574C>T	c.(2572-2574)taC>taT	p.Y858Y	WDR62_uc002odc.2_Silent_p.Y858Y	NM_001083961	NP_001077430	O43379	WDR62_HUMAN	Homo sapiens WD repeat domain 62 (WDR62), transcript variant 1, mRNA.	858					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AGCGCAGCTACCAGCCCCACG	0.622000														21			7		0	0	0.000157383	0	0
KCTD16	57528	broad.mit.edu	37	5	143853618	143853618	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:143853618C>T	uc003lnm.1	+	3	1857	c.1228C>T	c.(1228-1230)Cgg>Tgg	p.R410W	KCTD16_uc003lnn.1_Missense_Mutation_p.R410W	NM_020768	NP_065819	Q68DU8	KCD16_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 16 (KCTD16), mRNA.	410						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)			AATTCCAGATCGGTTTCCTGA	0.383000														52			6		0	0	0.00198382	0	0
PPP1R18	170954	broad.mit.edu	37	6	30647097	30647097	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:30647097C>T	uc003nra.3	-	2	1912	c.1681G>A	c.(1681-1683)Gag>Aag	p.E561K	PPP1R18_uc003nrb.4_Missense_Mutation_p.E561K	NM_001134870	NP_597728	Q6NYC8	PHTNS_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 18 (PPP1R18), transcript variant 2, mRNA.	561						cytoplasm|cytoskeleton	actin binding										CCCAGCTCCTCCAGTACCGAA	0.627000														32			8		0	0	0.000442599	0	0
PREX1	57580	broad.mit.edu	37	20	47305214	47305214	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr20:47305214G>A	uc002xtw.1	-	9	1338	c.1315C>T	c.(1315-1317)Ccc>Tcc	p.P439S		NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.	439	DEP 1.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|enzyme binding|phospholipid binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			AAGCACTTGGGGACAGTGCTC	0.557000														28			6		0	0	0.000157383	0	0
ZNF574	64763	broad.mit.edu	37	19	42583936	42583936	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:42583936C>T	uc002osk.4	+	1	1683	c.1448C>T	c.(1447-1449)tCa>tTa	p.S483L	ZNF574_uc002osm.4_Missense_Mutation_p.S393L|ZNF574_uc021uva.1_Missense_Mutation_p.S393L	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN	Homo sapiens zinc finger protein 574 (ZNF574), mRNA.	393					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				CCTCTGCATTCATGTCCATGT	0.592000														65			11		0	0	0.000978159	0	0
KIAA1407	57577	broad.mit.edu	37	3	113737574	113737574	+	Silent	SNP	A	G	G			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:113737574A>G	uc003eax.3	-	7	1261	c.1114T>C	c.(1114-1116)Ttg>Ctg	p.L372L	KIAA1407_uc011bin.1_Non-coding_Transcript|KIAA1407_uc011bio.1_Silent_p.L350L|KIAA1407_uc011bip.1_Silent_p.L359L	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN	Homo sapiens KIAA1407 (KIAA1407), mRNA.	372										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						TCCCGCTCCAACTTCTGGAAT	0.438000														108			19		0	0	0.00229938	0	0
SNX20	124460	broad.mit.edu	37	16	50711414	50711414	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr16:50711414C>T	uc002egk.2	-	1	197	c.24G>A	c.(22-24)ggG>ggA	p.G8G	SNX20_uc010vgp.1_Silent_p.G8G|SNX20_uc002egi.3_Silent_p.G8G|SNX20_uc021thz.1_Non-coding_Transcript	NM_182854	NP_878274	Q7Z614	SNX20_HUMAN	Homo sapiens sorting nexin 20 (SNX20), transcript variant 1, mRNA.	8					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						AGCCAGGGCTCCCAGGGTGCT	0.657000														45			7		0	0	0.000157383	0	0
SCFD1	23256	broad.mit.edu	37	14	31191117	31191117	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr14:31191117C>T	uc001wqm.1	+	21	1788	c.1764C>T	c.(1762-1764)ttC>ttT	p.F588F	SCFD1_uc001wqn.1_Silent_p.F521F|SCFD1_uc010tpg.1_Silent_p.F529F|SCFD1_uc010tph.1_Silent_p.F403F|SCFD1_uc010amf.1_Silent_p.F403F|SCFD1_uc010tpi.1_Silent_p.F496F	NM_016106	NP_057190	Q8WVM8	SCFD1_HUMAN	Homo sapiens sec1 family domain containing 1 (SCFD1), transcript variant 1, mRNA.	588					post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	Golgi cisterna membrane|Golgi-associated vesicle|cis-Golgi network|endoplasmic reticulum membrane|plasma membrane	syntaxin-5 binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		AAAATCCATTCCAAGAGGTAA	0.333000														76			10		0	0	0.000673444	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140249718	140249718	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:140249718G>A	uc003lia.2	+	0	1888	c.1030G>A	c.(1030-1032)Gat>Aat	p.D344N	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Missense_Mutation_p.D344N	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	360	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACACCAACGATAACTCTCC	0.512000														44			6		0	0	0.00116845	0	0
C15orf2	23742	broad.mit.edu	37	15	24922351	24922351	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr15:24922351C>T	uc001ywo.3	+	0	1811	c.1337C>T	c.(1336-1338)aCc>aTc	p.T446I		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	446	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CCACTTTCCACCACACCAAAA	0.507000														77			9		0	0	0.000442599	0	0
HCN3	57657	broad.mit.edu	37	1	155257825	155257825	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:155257825C>T	uc001fjz.1	+	7	1904	c.1896C>T	c.(1894-1896)ccC>ccT	p.P632P	HCN3_uc010pfz.1_Silent_p.P327P	NM_020897	NP_065948	Q9P1Z3	HCN3_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 3 (HCN3), mRNA.	632						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCCCTCTGCCCCTCTCCCCTG	0.662000														18			5		0	0	0.00116845	0	0
ACACB	32	broad.mit.edu	37	12	109703001	109703001	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:109703001C>T	uc001tob.3	+	50	7148	c.7029C>T	c.(7027-7029)atC>atT	p.I2343I	ACACB_uc001toc.3_Silent_p.I2343I|ACACB_uc001tod.3_Non-coding_Transcript|ACACB_uc010sxm.2_Silent_p.I1009I	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	2343					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	AGCAGGAGATCCTGCAGGCCA	0.642000														35			7		0	0	0.00198382	0	0
TGFBR2	7048	broad.mit.edu	37	3	30691871	30691871	+	Missense_Mutation	SNP	G	A	A	rs79375991		TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:30691871G>A	uc003ceo.3	+	2	755	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K	TGFBR2_uc021wut.1_Missense_Mutation_p.E3K|TGFBR2_uc003cen.3_Missense_Mutation_p.E150K	NM_003242	NP_003233	P37173	TGFR2_HUMAN	Homo sapiens transforming growth factor, beta receptor II (70/80kDa) (TGFBR2), transcript variant 2, mRNA.	125					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 NK T cell differentiation|positive regulation of T cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of reactive oxygen species metabolic process|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|SMAD binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|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	p.?(1)|p.P129fs*3(1)		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						CATTATGAAGGAAAAAAAAAA	0.418000														47			8		0	0	0.000274275	0	0
RORB	6096	broad.mit.edu	37	9	77257711	77257711	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr9:77257711G>A	uc004aji.3	+	3	699	c.650G>A	c.(649-651)gGg>gAg	p.G217E	RORB_uc004ajh.3_Missense_Mutation_p.G206E	NM_006914	NP_008845	Q92753	RORB_HUMAN	Homo sapiens RAR-related orphan receptor B (RORB), mRNA.	217	Hinge (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						TTAGCACCAGGGATAACCATG	0.398000														57			9		0	0	0.00136819	0	0
NEB	4703	broad.mit.edu	37	2	152404824	152404824	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:152404824C>T	uc021vrb.1	-	101	15081	c.15052G>A	c.(15052-15054)Gag>Aag	p.E5018K	NEB_uc002txr.3_Missense_Mutation_p.E1484K|NEB_uc002txu.3_Missense_Mutation_p.E6719K|NEB_uc021vrc.1_Missense_Mutation_p.E6719K|NEB_uc010fnx.3_Missense_Mutation_p.E5006K|NEB_uc021vrd.1_Missense_Mutation_p.E5018K	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	5018					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	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)		TCAGGTACCTCGCTGGTAACA	0.403000														30			6		0	0	0.00198382	0	0
KLF11	8462	broad.mit.edu	37	2	10188285	10188285	+	Missense_Mutation	SNP	C	T	T	rs142673414		TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:10188285C>T	uc002raf.1	+	2	983	c.821C>T	c.(820-822)cCt>cTt	p.P274L	KLF11_uc021vdq.1_Missense_Mutation_p.P257L|KLF11_uc010yjc.2_Missense_Mutation_p.P257L	NM_003597	NP_001171189	O14901	KLF11_HUMAN	Homo sapiens Kruppel-like factor 11 (KLF11), transcript variant 1, mRNA.	274					apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		AAAACCACCCCTCTGATTTCT	0.532000														204			42		0	0	0.00222228	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140186943	140186943	+	Silent	SNP	G	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:140186943G>T	uc003lhi.2	+	0	272	c.171G>T	c.(169-171)gcG>gcT	p.A57A	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Silent_p.A57A|PCDHAC2_uc011daa.2_Silent_p.A57A	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	70	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.A56A(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGCTGGCGGAGCTGGTGC	0.637000														75			23		2.21704e-12	1.10274e-11	0.00278032	1	0
TEX14	56155	broad.mit.edu	37	17	56679173	56679173	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:56679173C>T	uc010dcz.2	-	12	1808	c.1690G>A	c.(1690-1692)Gaa>Aaa	p.E564K	TEX14_uc002iwr.2_Missense_Mutation_p.E558K|TEX14_uc002iws.2_Missense_Mutation_p.E558K|TEX14_uc010dda.2_Missense_Mutation_p.E338K	NM_001201457	NP_001188386	Q8IWB6	TEX14_HUMAN	Homo sapiens testis expressed 14 (TEX14), transcript variant 3, mRNA.	564						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ATACCCATTTCCTTTAGTTCT	0.428000														57			5		0	0	0.00116845	0	0
BRSK2	9024	broad.mit.edu	37	11	1459553	1459553	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:1459553G>A	uc001ltm.3	+	2	595	c.342G>A	c.(340-342)gcG>gcA	p.A114A	BRSK2_uc009ycv.1_Silent_p.A68A|BRSK2_uc001lth.1_Silent_p.A68A|BRSK2_uc001lti.3_Silent_p.A68A|BRSK2_uc001ltl.3_Silent_p.A68A|BRSK2_uc001ltj.3_Silent_p.A68A|BRSK2_uc001ltk.3_Non-coding_Transcript|BRSK2_uc001ltn.3_Non-coding_Transcript	NM_003957	NP_003948	Q8IWQ3	BRSK2_HUMAN	Homo sapiens BR serine/threonine kinase 2 (BRSK2), mRNA.	68	Protein kinase.				establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		GGGAGATCGCGATCCTGAAGC	0.557000														51			11		0	0	0.00244969	0	0
ZNF354B	117608	broad.mit.edu	37	5	178310136	178310136	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:178310136C>T	uc003mjl.3	+	4	909	c.683C>T	c.(682-684)tCc>tTc	p.S228F	ZNF354B_uc003mjm.3_Missense_Mutation_p.S228F	NM_058230	NP_478137	Q96LW1	Z354B_HUMAN	Homo sapiens zinc finger protein 354B (ZNF354B), mRNA.	228					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	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)			CACAATTCATCCCTTCGTAAA	0.313000														135			26		0	0	0.00127121	0	0
IREB2	3658	broad.mit.edu	37	15	78786279	78786279	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr15:78786279G>A	uc002bdr.2	+	18	2515	c.2353G>A	c.(2353-2355)Gga>Aga	p.G785R	IREB2_uc010unb.1_Missense_Mutation_p.G535R	NM_004136	NP_004127	P48200	IREB2_HUMAN	Homo sapiens iron-responsive element binding protein 2 (IREB2), mRNA.	785							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)		CAACTCTTACGGAGCTCGAAG	0.358000														70			9		0	0	0.000978159	0	0
STK33	65975	broad.mit.edu	37	11	8435184	8435184	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:8435184C>T	uc001mgi.1	-	10	2121	c.1202G>A	c.(1201-1203)tGg>tAg	p.W401*	STK33_uc001mgj.1_Nonsense_Mutation_p.W401*|STK33_uc001mgk.1_Nonsense_Mutation_p.W401*|STK33_uc010rbn.1_Nonsense_Mutation_p.W360*|STK33_uc001mgl.3_Nonsense_Mutation_p.W214*	NM_030906	NP_112168	Q9BYT3	STK33_HUMAN	Homo sapiens serine/threonine kinase 33 (STK33), mRNA.	401						Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity	p.W401*(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		GTTATTTTTCCATTCCTTCAT	0.358000														53			7		0	0	0.00198382	0	0
MALT1	10892	broad.mit.edu	37	18	56402458	56402458	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr18:56402458A>T	uc002lhm.1	+	12	1758	c.1500A>T	c.(1498-1500)gaA>gaT	p.E500D	MALT1_uc002lhn.1_Missense_Mutation_p.E489D	NM_006785	NP_006776	Q9UDY8	MALT1_HUMAN	Homo sapiens mucosa associated lymphoid tissue lymphoma translocation gene 1 (MALT1), transcript variant 1, mRNA.	500	Caspase-like.				T cell receptor signaling pathway|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|positive regulation of interleukin-2 production|positive regulation of phosphorylation|positive regulation of protein ubiquitination|protein oligomerization|proteolysis	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						AAGCTTTTGAAATCCAGCATT	0.343000			T	BIRC3	MALT									49			14		0	0	0.00244969	0	0
USP30	84749	broad.mit.edu	37	12	109523515	109523515	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:109523515C>A	uc010sxi.2	+	12	1437	c.1333C>A	c.(1333-1335)Cat>Aat	p.H445N	USP30_uc001tnu.4_Missense_Mutation_p.H414N|USP30_uc001tnw.4_Missense_Mutation_p.H162N	NM_032663	NP_116052	Q70CQ3	UBP30_HUMAN	Homo sapiens ubiquitin specific peptidase 30 (USP30), mRNA.	445					ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						TGTCGTCCACCATGGAGACAT	0.498000														61			5		0.00198382	0.00964398	0.00198382	1	0
KCNH5	27133	broad.mit.edu	37	14	63174573	63174573	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr14:63174573G>A	uc001xfx.3	-	10	2671	c.2620C>T	c.(2620-2622)Cgt>Tgt	p.R874C	KCNH5_uc001xfy.3_3'UTR	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	874					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)		TTATCCAAACGAAGGTCACTT	0.507000														48			11		0	0	0.00136819	0	0
MUC13	56667	broad.mit.edu	37	3	124627012	124627012	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:124627012C>A	uc003ehq.2	-	10	1557	c.1518G>T	c.(1516-1518)atG>atT	p.M506I		NM_033049	NP_149038	Q9H3R2	MUC13_HUMAN	Homo sapiens mucin 13, cell surface associated (MUC13), mRNA.	506						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						CAGGGCGGGGCATGCTGCTGT	0.517000														23			6		2.0095e-06	9.93756e-06	0.00198382	1	0
TTN	7273	broad.mit.edu	37	2	179430280	179430280	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:179430280C>T	uc021vsy.1	-	274	73100	c.72875G>A	c.(72874-72876)gGa>gAa	p.G24292E	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G17987E|TTN_uc021vta.1_Missense_Mutation_p.G17920E|TTN_uc021vtb.1_Missense_Mutation_p.G17795E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	25219	Fibronectin type-III 76.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCGCTTTTTCCTTTCTCATT	0.403000														46			9		0	0	0.000274275	0	0
KCNK17	89822	broad.mit.edu	37	6	39271779	39271779	+	Silent	SNP	G	A	A	rs140940240	byFrequency	TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:39271779G>A	uc003ooo.3	-	3	783	c.642C>T	c.(640-642)ttC>ttT	p.F214F	KCNK17_uc003oop.3_Silent_p.F214F	NM_031460	NP_113648	Q96T54	KCNKH_HUMAN	Homo sapiens potassium channel, subfamily K, member 17 (KCNK17), transcript variant 1, mRNA.	214						integral to membrane	potassium channel activity|voltage-gated ion channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)	14						TGATGAAGGCGAAGTAGAAGC	0.632000														51			5		0	0	0.000602214	0	0
LRP5	4041	broad.mit.edu	37	11	68216286	68216286	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:68216286C>T	uc001ont.3	+	22	4671	c.4596C>T	c.(4594-4596)atC>atT	p.I1532I	LRP5_uc009ysg.3_Silent_p.I942I	NM_002335	NP_002326	O75197	LRP5_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.	1532	Pro-rich.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGCCCTACATCATTCGAGGAA	0.632000														31			6		0	0	0.000157383	0	0
STK31	56164	broad.mit.edu	37	7	23826463	23826463	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:23826463C>T	uc003sws.4	+	19	2474	c.2407C>T	c.(2407-2409)Cct>Tct	p.P803S	STK31_uc003swt.4_Missense_Mutation_p.P780S|STK31_uc011jze.2_Missense_Mutation_p.P803S|STK31_uc010kuq.3_Missense_Mutation_p.P780S|STK31_uc003swv.1_5'Flank	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	803	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						TTAGTCTGATCCTATGGCTTA	0.348000														58			10		0	0	0.000442599	0	0
OR9Q2	219957	broad.mit.edu	37	11	57958248	57958248	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:57958248C>T	uc010rka.2	+	0	343	c.286C>T	c.(286-288)Cgc>Tgc	p.R96C		NM_001005283	NP_001005283	Q8NGE9	OR9Q2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily Q, member 2 (OR9Q2), mRNA.	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				CTCCCAGGCTCGCTGTGCAGC	0.592000														64			12		0	0	0.00244969	0	0
TLR4	7099	broad.mit.edu	37	9	120476546	120476546	+	Missense_Mutation	SNP	C	T	T	rs56225594		TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr9:120476546C>T	uc004bjz.3	+	2	2431	c.2140C>T	c.(2140-2142)Ccc>Tcc	p.P714S	TLR4_uc004bkb.3_Missense_Mutation_p.P514S|TLR4_uc004bka.3_Missense_Mutation_p.P674S	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	714	TIR.				I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|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 NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|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 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|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	p.P714P(2)		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						AGACTTTATTCCCGGTGTGGC	0.493000														28			5		0	0	0.00116845	0	0
NLRP4	147945	broad.mit.edu	37	19	56369493	56369493	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:56369493C>T	uc002qmd.4	+	2	1156	c.734C>T	c.(733-735)tCg>tTg	p.S245L	NLRP4_uc002qmf.3_Missense_Mutation_p.S170L|NLRP4_uc010etf.3_Missense_Mutation_p.S76L	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	245	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)		GAACCCGATTCGGATCTGTGT	0.567000														57			21		0	0	0.00188189	0	0
TAF1L	138474	broad.mit.edu	37	9	32634889	32634889	+	Missense_Mutation	SNP	G	A	A	rs142455268		TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr9:32634889G>A	uc003zrg.1	-	0	779	c.689C>T	c.(688-690)cCa>cTa	p.P230L	AX747113_uc003zrh.1_Non-coding_Transcript	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	230					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity	p.P230L(2)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CCCAGCCAATGGAAGGGTCAG	0.463000														87			16		0	0	0.000566183	0	0
POTEM	641455	broad.mit.edu	37	14	20019837	20019837	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr14:20019837G>A	uc001vwc.3	-	0	436	c.384C>T	c.(382-384)ttC>ttT	p.F128F	POTEM_uc001vwb.3_Non-coding_Transcript	NM_001145442	NP_001138914	A6NI47	POTEM_HUMAN	Homo sapiens POTE ankyrin domain family, member M (POTEM), mRNA.	128										endometrium(4)|kidney(1)|lung(4)	9						TCGGCTCCATGAAAGCGCTGT	0.602000														131			13		0	0	0.000422831	0	0
PTGS1	5742	broad.mit.edu	37	9	125154609	125154609	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr9:125154609C>T	uc004bmg.1	+	10	1721	c.1586C>T	c.(1585-1587)tCc>tTc	p.S529F	PTGS1_uc011lys.1_Missense_Mutation_p.S467F|PTGS1_uc010mwb.1_Missense_Mutation_p.S383F|PTGS1_uc004bmf.1_Missense_Mutation_p.S492F|PTGS1_uc004bmh.1_Missense_Mutation_p.S420F|PTGS1_uc011lyt.1_Missense_Mutation_p.S420F	NM_000962	NP_000953	P23219	PGH1_HUMAN	Homo sapiens prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) (PTGS1), transcript variant 1, mRNA.	529		Aspirin-acetylated serine.			cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	Golgi apparatus|endoplasmic reticulum membrane|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)|gamma-Homolinolenic acid(DB00154)	GCTCCCTTTTCCCTCAAGGGT	0.512000														86			12		0	0	0.000308642	0	0
FAM75A3	727830	broad.mit.edu	37	9	40702725	40702725	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr9:40702725G>A	uc010mmj.3	+	3	411	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K		NM_001083124	NP_001076593	Q5VYP0	F75A3_HUMAN	Homo sapiens family with sequence similarity 75, member A3 (FAM75A3), mRNA.	128	Pro-rich.					integral to membrane		p.E128*(3)		kidney(1)|large_intestine(2)|lung(18)|ovary(3)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TGAGGTGGGCGAAAGAGCACC	0.602000														66			7		0	0	0.00136819	0	0
ELAVL2	1993	broad.mit.edu	37	9	23701461	23701461	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr9:23701461G>A	uc003zpu.3	-	4	904	c.629C>T	c.(628-630)aCc>aTc	p.T210I	ELAVL2_uc003zps.3_Missense_Mutation_p.T210I|ELAVL2_uc003zpt.3_Missense_Mutation_p.T210I|ELAVL2_uc003zpv.3_Missense_Mutation_p.T210I|ELAVL2_uc003zpw.3_Missense_Mutation_p.T210I	NM_004432	NP_004423	Q12926	ELAV2_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B) (ELAVL2), transcript variant 1, mRNA.	210					regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		GGCCTGATTGGTTTTTTGGCT	0.493000														88			8		0	0	0.000274275	0	0
PRKAG2	51422	broad.mit.edu	37	7	151372708	151372708	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:151372708G>A	uc003wkk.3	-	3	1093	c.482C>T	c.(481-483)tCc>tTc	p.S161F	PRKAG2_uc011kvl.2_Missense_Mutation_p.S37F|PRKAG2_uc003wkj.3_Missense_Mutation_p.S117F|PRKAG2_uc010lqe.1_Non-coding_Transcript|PRKAG2_uc003wkm.1_Missense_Mutation_p.S161F	NM_016203	NP_077747	Q9UGJ0	AAKG2_HUMAN	Homo sapiens protein kinase, AMP-activated, gamma 2 non-catalytic subunit (PRKAG2), transcript variant a, mRNA.	161					ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		TGACGGAGAGGAGGAGAGGCC	0.587000														44			37		0	0	0.00170553	0	0
FGF7	2252	broad.mit.edu	37	15	49776595	49776595	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr15:49776595G>A	uc001zxn.3	+	3	1008	c.479G>A	c.(478-480)gGa>gAa	p.G160E	C15orf33_uc001zxl.2_Intron|C15orf33_uc001zxm.3_Intron	NM_002009	NP_002000	P21781	FGF7_HUMAN	Homo sapiens fibroblast growth factor 7 (FGF7), mRNA.	160					actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	Palifermin(DB00039)	ACACACAACGGAGGGGAAATG	0.353000														29			5		0	0	0.00198382	0	0
YSK4	80122	broad.mit.edu	37	2	135756509	135756509	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:135756509C>T	uc002tue.1	-	4	404	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K	YSK4_uc010fne.1_Missense_Mutation_p.E97K|YSK4_uc002tuf.1_Missense_Mutation_p.E125K|YSK4_uc010fnc.1_Missense_Mutation_p.E125K|YSK4_uc010fnd.1_Intron|YSK4_uc010zbg.1_Missense_Mutation_p.E125K|YSK4_uc002tui.4_Missense_Mutation_p.E142K	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	125							ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		GTTTCTATTTCATTTGGATGA	0.443000														38			6		0	0	0.00116845	0	0
SLC2A7	155184	broad.mit.edu	37	1	9079267	9079267	+	Splice_Site	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:9079267C>T	uc009vmo.1	-	4	436	c.436_splice	c.e4+1	p.G146_splice		NM_207420	NP_997303	Q6PXP3	GTR7_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 7 (SLC2A7), mRNA.	146						integral to membrane|plasma membrane	sugar transmembrane transporter activity			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		GCCCCAGGTACCTGCACAGAC	0.592000														19			4		0	0	0.00198382	0	0
TBC1D3P1-DHX40P1	653645	broad.mit.edu	37	17	58079048	58079048	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:58079048C>T	uc002iyf.2	-	4	395	c.160G>A	c.(160-162)Gag>Aag	p.E54K						Homo sapiens TBC1D3P1-DHX40P1 readthrough (non-protein coding) (TBC1D3P1-DHX40P1), non-coding RNA.																		TTTAAATGCTCCTTCCTATTA	0.353000														46			11		0	0	0.000978159	0	0
TRBV5-1	28614	broad.mit.edu	37	7	142021119	142021119	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:142021119G>A	uc011krr.1	+	1	284	c.99G>A	c.(97-99)acG>acA	p.T33T	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krq.1_Silent_p.T33T					SubName: Full=V_segment translation product; Flags: Fragment;																		TGATCAAAACGAGAGGACAGC	0.537000														12			9		0	0	0.000442599	0	0
MYH2	4620	broad.mit.edu	37	17	10440749	10440749	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:10440749G>A	uc010coi.3	-	15	1826	c.1698C>T	c.(1696-1698)ttC>ttT	p.F566F	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.F566F|MYH2_uc010coj.3_Silent_p.F566F	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	566	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin 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						TGGGCTTCTGGAAGTTGGCAG	0.527000														58			11		0	0	0.000673444	0	0
AGGF1	55109	broad.mit.edu	37	5	76331503	76331504	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:76331503_76331504CC>AA	uc003ket.3	+	2	833_834	c.451_452CC>AA	c.(451-453)cct>AAt	p.P151N	AGGF1_uc003kes.3_Missense_Mutation_p.P151N|AGGF1_uc003keu.1_Non-coding_Transcript	NM_018046	NP_060516	Q8N302	AGGF1_HUMAN	Homo sapiens angiogenic factor with G patch and FHA domains 1 (AGGF1), mRNA.	151					RNA processing|angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		TGATGCTTACCCTGGTACCGAT	0.342000														404			13		0	0	6.4e-05	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21015471	21015471	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:21015471G>A	uc010sil.2	+	4	672	c.607G>A	c.(607-609)Gga>Aga	p.G203R	SLCO1B3_uc001rek.3_Missense_Mutation_p.G203R|SLCO1B3_uc001rel.3_Missense_Mutation_p.G203R|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	203					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	p.G203G(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TGCAAAAGAAGGACATTCTTC	0.353000														41			11		0	0	0.000978159	0	0
GABRA6	2559	broad.mit.edu	37	5	161116329	161116329	+	Silent	SNP	C	T	T	rs139264126	by1000genomes	TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:161116329C>T	uc003lyu.2	+	4	854	c.516C>T	c.(514-516)ctC>ctT	p.L172L	GABRA6_uc003lyv.2_5'Flank	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	172					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CTTGTCCACTCAAGTTTGGGA	0.393000										TCGA Ovarian(5;0.080)				61			7		0	0	0.00198382	0	0
EPHA3	2042	broad.mit.edu	37	3	89259296	89259296	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:89259296C>T	uc003dqy.3	+	2	665	c.440C>T	c.(439-441)gCa>gTa	p.A147V	EPHA3_uc003dqx.1_Missense_Mutation_p.A147V|EPHA3_uc021xbf.1_Missense_Mutation_p.A147V	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	147						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)		GACACCATTGCAGCTGATGAA	0.418000										TSP Lung(6;0.00050)				72			12		0	0	0.00185496	0	0
CHST4	10164	broad.mit.edu	37	16	71570920	71570920	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr16:71570920G>A	uc021tkt.1	+	0	340	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K	CHST4_uc002fan.3_Missense_Mutation_p.E114K|CHST4_uc002fao.3_Missense_Mutation_p.E114K	NM_005769	NP_005760	Q8NCG5	CHST4_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 (CHST4), transcript variant 1, mRNA.	114					N-acetylglucosamine metabolic process|cell-cell signaling|immune response|inflammatory response|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						TGCCTACATGGAACCTGGTCC	0.567000														43			8		0	0	0.000673444	0	0
FAM190A	401145	broad.mit.edu	37	4	91229510	91229510	+	Silent	SNP	A	G	G			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:91229510A>G	uc003hsv.4	+	1	415	c.75A>G	c.(73-75)agA>agG	p.R25R	FAM190A_uc003hsu.3_Silent_p.R25R|FAM190A_uc010ikv.2_Non-coding_Transcript|FAM190A_uc003hsw.3_Silent_p.R25R	NM_001145065	NP_001138537	Q9C0I3	F190A_HUMAN	Homo sapiens family with sequence similarity 190, member A (FAM190A), transcript variant 1, mRNA.	25	Ser-rich.									NS(2)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						TTAACAGAAGACATGATTCTC	0.463000														19			5		0	0	0.000602214	0	0
NEB	4703	broad.mit.edu	37	2	152506845	152506845	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:152506845G>A	uc021vrb.1	-	51	7305	c.7276C>T	c.(7276-7278)Ccc>Tcc	p.P2426S	NEB_uc002txu.3_Missense_Mutation_p.P2426S|NEB_uc021vrc.1_Missense_Mutation_p.P2426S|NEB_uc010fnx.3_Missense_Mutation_p.P2426S|NEB_uc021vrd.1_Missense_Mutation_p.P2426S	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	2426					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	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)		GAACCCAAGGGACTCCATCCT	0.458000														42			7		0	0	0.000157383	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516594	140516594	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:140516594C>G	uc003liq.3	+	0	1795	c.1578C>G	c.(1576-1578)ttC>ttG	p.F526L		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	526	Cadherin 5.				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)			TGCAGGCGTTCGAGTTCCGCG	0.687000														55			14		0	0	0.00244969	0	0
CR1	1378	broad.mit.edu	37	1	207787797	207787797	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:207787797G>A	uc001hfy.3	+	31	5414	c.5274G>A	c.(5272-5274)atG>atA	p.M1758I	CR1_uc001hfx.3_Missense_Mutation_p.M2208I|CR1_uc021pij.1_Missense_Mutation_p.M1758I	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	1758	Sushi 27.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TGGCTGGAATGAAAGCCCTTT	0.408000														26			19		0	0	0.00188189	0	0
SLC22A25	387601	broad.mit.edu	37	11	62996992	62996992	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:62996992G>A	uc001nwr.1	-	0	133	c.133C>T	c.(133-135)Ctt>Ttt	p.L45F	SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Non-coding_Transcript|SLC22A25_uc001nwt.1_Missense_Mutation_p.L45F	NM_199352	NP_955384	Q6T423	S22AP_HUMAN	Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA.	45					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						CGATGATCAAGTATGAATGCT	0.483000														47			6		0	0	0.00198382	0	0
DNAH8	1769	broad.mit.edu	37	6	38758067	38758067	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:38758067G>A	uc021yzh.1	+	19	2776	c.2667G>A	c.(2665-2667)gtG>gtA	p.V889V	DNAH8_uc003ooe.2_Silent_p.V672V	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GTTTCTAGGTGGAATCTGTGT	0.353000														88			11		0	0	0.000978159	0	0
EDN3	1908	broad.mit.edu	37	20	57876762	57876762	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr20:57876762G>A	uc002yap.3	+	1	719	c.350G>A	c.(349-351)tGg>tAg	p.W117*	EDN3_uc002yao.1_Nonsense_Mutation_p.W117*|EDN3_uc002yaq.3_Nonsense_Mutation_p.W117*|EDN3_uc002yar.3_Nonsense_Mutation_p.W117*|EDN3_uc002yas.3_Nonsense_Mutation_p.W117*	NM_000114	NP_996917	P14138	EDN3_HUMAN	Homo sapiens endothelin 3 (EDN3), transcript variant 1, mRNA.	117		Cleavage; by KEL.			cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of MAP kinase activity|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					GACATCATTTGGATCAACACT	0.597000														62			23		0	0	0.000720815	0	0
CD247	919	broad.mit.edu	37	1	167407878	167407878	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:167407878G>A	uc001gei.4	-	3	374	c.229C>T	c.(229-231)Cta>Tta	p.L77L	CD247_uc001gej.4_Silent_p.L77L|CD247_uc001gek.2_Silent_p.L77L	NM_198053	NP_932170	P20963	CD3Z_HUMAN	Homo sapiens CD247 molecule (CD247), transcript variant 1, mRNA.	77	ITAM 1.				T cell costimulation|T cell receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytoplasm|integral to membrane	protein homodimerization activity|transmembrane receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(543;0.236)			CTTCGTCCTAGATTGAGCTCC	0.542000														97			24		0	0	0.00047179	0	0
AGRN	375790	broad.mit.edu	37	1	980620	980620	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:980620C>T	uc001ack.2	+	12	2384	c.2334C>T	c.(2332-2334)atC>atT	p.I778I		NM_198576	NP_940978	O00468	AGRIN_HUMAN	Homo sapiens agrin (AGRN), mRNA.	778					axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		AGGACAATATCACCGCAGCCC	0.706000														17			5		0	0	0.00116845	0	0
CYP4A22	284541	broad.mit.edu	37	1	47610232	47610232	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:47610232G>A	uc001cqv.1	+	7	959	c.908G>A	c.(907-909)gGg>gAg	p.G303E	CYP4A22_uc009vyo.3_Missense_Mutation_p.G303E|CYP4A22_uc009vyp.3_Intron	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 22 (CYP4A22), mRNA.	303						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATGGAGAATGGGAGCATCTTG	0.532000														72			8		0	0	0.000442599	0	0
LPCAT2	54947	broad.mit.edu	37	16	55559453	55559453	+	Missense_Mutation	SNP	C	T	T	rs143609573		TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr16:55559453C>T	uc002eie.4	+	1	386	c.205C>T	c.(205-207)Cgt>Tgt	p.R69C		NM_017839	NP_060309	Q7L5N7	PCAT2_HUMAN	Homo sapiens lysophosphatidylcholine acyltransferase 2 (LPCAT2), mRNA.	69					cellular membrane organization|platelet activating factor biosynthetic process	Golgi membrane|Golgi stack|endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						GCTTCCAATTCGTGTCTTATT	0.358000														40			10		0	0	0.000978159	0	0
MUC16	94025	broad.mit.edu	37	19	8994489	8994489	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:8994489G>A	uc002mkp.3	-	63	41607	c.41403C>T	c.(41401-41403)aaC>aaT	p.N13801N	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Silent_p.N618N|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13803	SEA 12.			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						CATACCGCAGGTTAGTGATGG	0.507000														41			9		0	0	0.000274275	0	0
TNIP3	79931	broad.mit.edu	37	4	122085294	122085294	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:122085294C>T	uc021xrj.1	-	3	297	c.218G>A	c.(217-219)gGa>gAa	p.G73E	TNIP3_uc010ing.3_5'UTR|TNIP3_uc011cgj.2_Missense_Mutation_p.G66E|TNIP3_uc010ini.3_5'UTR	NM_001244764	NP_001231693	Q96KP6	TNIP3_HUMAN	Homo sapiens TNFAIP3 interacting protein 3 (TNIP3), transcript variant 3, mRNA.	77										NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						AGCTGTTTTTCCTGGAGTCTT	0.388000														31			11		0	0	0.000978159	0	0
MYO5B	4645	broad.mit.edu	37	18	47421396	47421396	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr18:47421396C>T	uc002leb.2	-	21	3248	c.2960G>A	c.(2959-2961)aGc>aAc	p.S987N	MYO5B_uc002lea.2_Missense_Mutation_p.S128N	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	987					protein transport	myosin complex	ATP binding|actin 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)		TGTGCGCAGGCTCTCCACCTC	0.612000														29			5		0	0	0.00198382	0	0
CYP4F2	8529	broad.mit.edu	37	19	16000293	16000293	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:16000293G>A	uc002nbs.1	-	6	908	c.858C>T	c.(856-858)ttC>ttT	p.F286F	CYP4F2_uc010xot.1_Silent_p.F137F|CYP4F2_uc010xou.1_Silent_p.F137F	NM_001082	NP_001073	P78329	CP4F2_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 2 (CYP4F2), mRNA.	286					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						TGGCTTGGAGGAAGTCATCAA	0.572000														46			10		0	0	0.00185496	0	0
ANKDD1A	348094	broad.mit.edu	37	15	65219162	65219162	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr15:65219162C>T	uc002aoa.3	+	5	563	c.534C>T	c.(532-534)ctC>ctT	p.L178L	ANKDD1A_uc002anx.1_Silent_p.L174L|ANKDD1A_uc002any.3_Silent_p.L87L|ANKDD1A_uc002anz.3_Silent_p.L87L|ANKDD1A_uc002aob.3_Intron|ANKDD1A_uc002aoc.3_Non-coding_Transcript|ANKDD1A_uc010bha.3_Silent_p.L87L	NM_182703	NP_874362	Q495B1	AKD1A_HUMAN	Homo sapiens ankyrin repeat and death domain containing 1A (ANKDD1A), mRNA.	178					signal transduction			p.L178L(2)		NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						TGGACTTCCTCGTGGGCTCTG	0.612000														104			13		0	0	0.00136819	0	0
HMCN1	83872	broad.mit.edu	37	1	186045683	186045683	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:186045683C>T	uc001grq.1	+	53	8643	c.8414C>T	c.(8413-8415)cCc>cTc	p.P2805L	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	2805	Ig-like C2-type 26.				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						AATGCTGCTCCCCCTCCTACA	0.433000														31			9		0	0	0.000673444	0	0
OR9A4	130075	broad.mit.edu	37	7	141618858	141618858	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:141618858C>T	uc003vwu.1	+	0	183	c.183C>T	c.(181-183)ttC>ttT	p.F61F		NM_001001656	NP_001001656	Q8NGU2	OR9A4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 4 (OR9A4), mRNA.	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					TGTATTTCTTCCTCGGCCACC	0.463000														90			9		0	0	0.000442599	0	0
ATF6B	1388	broad.mit.edu	37	6	32088853	32088853	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:32088853G>A	uc003nzn.3	-	6	646	c.613C>T	c.(613-615)Cct>Tct	p.P205S	ATF6B_uc003nzo.3_Missense_Mutation_p.P202S|ATF6B_uc003nzp.1_5'Flank|ATF6B_uc011dpg.2_Missense_Mutation_p.P139S|ATF6B_uc011dph.2_Missense_Mutation_p.P205S	NM_004381	NP_004372	Q99941	ATF6B_HUMAN	Homo sapiens activating transcription factor 6 beta (ATF6B), transcript variant 1, mRNA.	205					response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						CATCCTGAAGGGGACAGGGAC	0.547000														156			29		0	0	0.0024448	0	0
KIF17	57576	broad.mit.edu	37	1	20998650	20998650	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:20998650C>T	uc001bdr.4	-	11	2621	c.2503G>A	c.(2503-2505)Gag>Aag	p.E835K	KIF17_uc001bdp.4_Missense_Mutation_p.E113K|KIF17_uc009vpx.3_Missense_Mutation_p.E205K|KIF17_uc001bds.4_Missense_Mutation_p.E835K	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA.	835					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		AGCTGAAACTCGGACTGCAGA	0.557000														16			15		0	0	0.000566183	0	0
TCRA	0	broad.mit.edu	37	14	22265839	22265839	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr14:22265839G>A	uc010air.1	+	1	254	c.122G>A	c.(121-123)gGa>gAa	p.G41E	TRA_uc021rpa.1_Intron					Homo sapiens mRNA for T cell receptor alpha variable 8, partial cds, clone: SEB 172.																		CTGGAGTTGGGATGCAACTAT	0.468000														58			8		0	0	0.000274275	0	0
CFB	629	broad.mit.edu	37	6	31902144	31902144	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:31902144C>T	uc003nye.4	+	5	1181	c.917C>T	c.(916-918)cCc>cTc	p.P306L	CFB_uc003nyc.2_Intron|CFB_uc011doo.2_Intron|CFB_uc011dop.2_Intron|CFB_uc003nyf.3_Intron|CFB_uc010jtk.3_Intron|CFB_uc011doq.2_Intron|CFB_uc011dor.2_Intron|CFB_uc003nyh.2_5'Flank	NM_000063	NP_000054	P00751	CFAB_HUMAN	Homo sapiens complement component 2 (C2), transcript variant 1, mRNA.	13	VWFA.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						TGTCTCCTTCCCCTCCTCAGA	0.498000														62			13		0	0	0.00185496	0	0
DGKE	8526	broad.mit.edu	37	17	54925305	54925305	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:54925305C>T	uc002iur.3	+	4	947	c.767C>T	c.(766-768)cCt>cTt	p.P256L	DGKE_uc002ius.1_Missense_Mutation_p.P256L	NM_003647	NP_003638	P52429	DGKE_HUMAN	Homo sapiens diacylglycerol kinase, epsilon 64kDa (DGKE), mRNA.	256	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					ACTAAAACTCCTCCTATCAAA	0.388000														55			5		0	0	0.000157383	0	0
C15orf2	23742	broad.mit.edu	37	15	24921801	24921801	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr15:24921801C>T	uc001ywo.3	+	0	1261	c.787C>T	c.(787-789)Cct>Tct	p.P263S		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	263					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		AACAGCGCCCCCTGAGCCAGC	0.642000														44			5		0	0	0.000602214	0	0
CHAMP1	283489	broad.mit.edu	37	13	115090796	115090796	+	Silent	SNP	C	T	T	rs142049023		TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr13:115090796C>T	uc001vuv.3	+	2	1811	c.1479C>T	c.(1477-1479)ttC>ttT	p.F493F	CHAMP1_uc010tko.2_Silent_p.F493F|CHAMP1_uc010ahb.3_Silent_p.F493F|CHAMP1_uc021rmx.1_Silent_p.F493F	NM_032436	NP_115812	Q96JM3	ZN828_HUMAN	Homo sapiens chromosome alignment maintaining phosphoprotein 1 (CHAMP1), transcript variant 1, mRNA.	493	Mediates localization to the spindle and the kinetochore and is required for the attachment of spindle microtubules to the kinetochore.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding										AACCTGTCTTCCCTGAGACCC	0.498000														157			26		0	0	0.000720815	0	0
MS4A2	2206	broad.mit.edu	37	11	59863043	59863043	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:59863043C>T	uc001nop.3	+	6	751	c.649C>T	c.(649-651)Cgt>Tgt	p.R217C	MS4A2_uc021qka.1_Missense_Mutation_p.R172C	NM_000139	NP_000130	Q01362	FCERB_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide) (MS4A2), mRNA.	217					cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity			endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	TCCAGAGGATCGTGTTTATGA	0.388000														17			4		0	0	0.00116845	0	0
LPAR1	1902	broad.mit.edu	37	9	113704006	113704006	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr9:113704006C>T	uc011lwo.2	-	1	493	c.491G>A	c.(490-492)cGg>cAg	p.R164Q	LPAR1_uc004bfa.3_Missense_Mutation_p.R163Q|LPAR1_uc011lwm.2_Missense_Mutation_p.R164Q|LPAR1_uc004bfc.3_Missense_Mutation_p.R163Q|LPAR1_uc011lwn.2_Missense_Mutation_p.R145Q|LPAR1_uc004bfb.3_Missense_Mutation_p.R163Q|LPAR1_uc010mub.3_Missense_Mutation_p.R163Q	NM_057159	NP_476500	Q92633	LPAR1_HUMAN	Homo sapiens lysophosphatidic acid receptor 1 (LPAR1), transcript variant 2, mRNA.	163					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						CACCACTACCCGCCGGTTGCT	0.517000														31			6		0	0	0.00116845	0	0
SLC6A5	9152	broad.mit.edu	37	11	20673884	20673885	+	Missense_Mutation	DNP	CT	TA	TA			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:20673884_20673885CT>TA	uc001mqd.3	+	14	2393_2394	c.2120_2121CT>TA	c.(2119-2121)tct>tTA	p.S707L	SLC6A5_uc009yic.3_Missense_Mutation_p.S472L	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 5 (SLC6A5), mRNA.	707					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	ACCTATGGCTCTTACCGCTATC	0.475000														69			14		0	0	6.4e-05	0	0
NEB	4703	broad.mit.edu	37	2	152373030	152373030	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:152373030C>T	uc021vrb.1	-	127	17774	c.17745G>A	c.(17743-17745)ctG>ctA	p.L5915L	NEB_uc002txr.3_Silent_p.L2381L|NEB_uc002txu.3_Silent_p.L7616L|NEB_uc021vrc.1_Silent_p.L7616L|NEB_uc010fnx.3_Silent_p.L5903L|NEB_uc021vrd.1_Silent_p.L5915L|NEB_uc002txt.4_Silent_p.L420L	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	5915					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	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)		TTTCAAAGTCCAGCATGGGTT	0.428000														11			3		0	0	0.00116845	0	0
HTT	3064	broad.mit.edu	37	4	3123101	3123101	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:3123101C>T	uc021xkv.1	+	8	1360	c.1215C>T	c.(1213-1215)acC>acT	p.T405T		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	405					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|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)		GGCAGCTCACCGCTGCTAAGG	0.547000														23			9		0	0	0.000442599	0	0
MMP1	4312	broad.mit.edu	37	11	102662100	102662100	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:102662100C>T	uc001phi.2	-	7	1303	c.1160G>A	c.(1159-1161)gGa>gAa	p.G387E	LOC100288077_uc001phh.1_Intron|MMP1_uc010ruv.1_Missense_Mutation_p.G321E	NM_002421	NP_001139410	P03956	MMP1_HUMAN	Homo sapiens matrix metallopeptidase 1 (interstitial collagenase) (MMP1), transcript variant 1, mRNA.	387	Hemopexin-like 3.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		GTAGGTTTTTCCAGTGTTTTC	0.418000														60			11		0	0	0.00185496	0	0
OR51A4	401666	broad.mit.edu	37	11	4967848	4967848	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:4967848G>A	uc010qys.2	-	0	483	c.483C>T	c.(481-483)ttC>ttT	p.F161F		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 4 (OR51A4), mRNA.	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		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														133			19		0	0	0.00152264	0	0
SAMD9	54809	broad.mit.edu	37	7	92731442	92731442	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:92731442G>A	uc003umf.3	-	2	4239	c.3969C>T	c.(3967-3969)ttC>ttT	p.F1323F	SAMD9_uc003umg.3_Silent_p.F1323F|SAMD9_uc022ahg.1_Silent_p.F1323F	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	1323						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GTGGCTCACTGAACTTTGATC	0.378000														116			15		0	0	0.000308642	0	0
ST18	9705	broad.mit.edu	37	8	53076592	53076592	+	Nonsense_Mutation	SNP	G	A	A	rs149497456	byFrequency	TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr8:53076592G>A	uc003xqz.2	-	7	1510	c.1354C>T	c.(1354-1356)Cag>Tag	p.Q452*	ST18_uc011ldq.1_Nonsense_Mutation_p.Q99*|ST18_uc011ldr.1_Nonsense_Mutation_p.Q417*|ST18_uc011lds.1_Nonsense_Mutation_p.Q357*|ST18_uc003xra.2_Nonsense_Mutation_p.Q452*|ST18_uc003xrb.2_Nonsense_Mutation_p.Q452*	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	452						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GAATCAAGCTGATTTTTATCC	0.448000														81			8		0	0	0.000978159	0	0
FAM47C	442444	broad.mit.edu	37	X	37027432	37027432	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chrX:37027432C>T	uc004ddl.2	+	0	1001	c.949C>T	c.(949-951)Cat>Tat	p.H317Y		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	317										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						ACGCGTATCTCATCTCCGCCC	0.612000														26			7		0	0	0.00198382	0	0
AGXT2	64902	broad.mit.edu	37	5	35037082	35037082	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:35037082C>T	uc003jjf.3	-	3	694	c.451G>A	c.(451-453)Gag>Aag	p.E151K	AGXT2_uc011com.2_Missense_Mutation_p.E151K|AGXT2_uc011con.2_Missense_Mutation_p.E59K	NM_031900	NP_114106	Q9BYV1	AGT2_HUMAN	Homo sapiens alanine--glyoxylate aminotransferase 2 (AGXT2), nuclear gene encoding mitochondrial protein, mRNA.	151					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	GCAAGCTTCTCTGCATATTCA	0.502000														64			15		0	0	0.000566183	0	0
MTF1	4520	broad.mit.edu	37	1	38288241	38288241	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:38288241G>A	uc001cce.1	-	8	1460	c.1319C>T	c.(1318-1320)cCg>cTg	p.P440L	MTF1_uc009vvj.1_Missense_Mutation_p.P131L	NM_005955	NP_005946	Q14872	MTF1_HUMAN	Homo sapiens metal-regulatory transcription factor 1 (MTF1), mRNA.	440	Pro-rich.					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AGGAGCAGACGGAGCTGAGGC	0.587000														34			9		0	0	0.000673444	0	0
IMPG1	3617	broad.mit.edu	37	6	76640691	76640691	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:76640691T>G	uc003pik.1	-	14	2352	c.2222A>C	c.(2221-2223)cAg>cCg	p.Q741P		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	741					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TCCCTTTCCCTGGAGGACCTC	0.537000														35			5		0	0	0.00116845	0	0
ADAM17	6868	broad.mit.edu	37	2	9630376	9630376	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:9630376C>T	uc002qzu.3	-	18	2588	c.2405G>A	c.(2404-2406)aGa>aAa	p.R802K	IAH1_uc010yiz.2_Intron|ADAM17_uc010ewy.3_Missense_Mutation_p.R785K|ADAM17_uc010ewz.3_Missense_Mutation_p.R145K	NM_003183	NP_003174	P78536	ADA17_HUMAN	Homo sapiens ADAM metallopeptidase domain 17 (ADAM17), mRNA.	802					B cell differentiation|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|T cell differentiation in thymus|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|positive regulation of T cell chemotaxis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	PDZ domain binding|SH3 domain binding|integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		CTTTTCACTTCTGGTGACCGG	0.478000														35			9		0	0	0.000978159	0	0
C3orf15	89876	broad.mit.edu	37	3	119451185	119451185	+	Silent	SNP	T	C	C			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:119451185T>C	uc003ede.4	+	8	1140	c.1063T>C	c.(1063-1065)Ttg>Ctg	p.L355L	C3orf15_uc010hqy.2_Silent_p.L355L|C3orf15_uc010hqz.3_Silent_p.L293L|C3orf15_uc011bjd.2_Silent_p.L229L|C3orf15_uc011bje.2_Silent_p.L335L|C3orf15_uc010hra.2_Silent_p.L116L	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	Homo sapiens chromosome 3 open reading frame 15 (C3orf15), mRNA.	353						mitochondrion	protein binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.186)		AGAAGGGAAGTTGGAGAGAAG	0.363000														94			23		0	0	0.000720815	0	0
WNT3	7473	broad.mit.edu	37	17	44845865	44845865	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:44845865C>T	uc002ikv.2	-	3	1008	c.889G>A	c.(889-891)Gac>Aac	p.D297N		NM_030753	NP_110380	P56703	WNT3_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 3 (WNT3), mRNA.	297					Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			CAAGTCCGGTCCCTTGTGCCA	0.592000														84			16		0	0	0.00074312	0	0
STK19	8859	broad.mit.edu	37	6	31940123	31940123	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:31940123G>A	uc003nyv.3	+	1	393	c.265G>A	c.(265-267)Gac>Aac	p.D89N	DOM3Z_uc003nyp.1_5'Flank|DOM3Z_uc003nyq.1_5'Flank|DOM3Z_uc010jtl.1_5'Flank|STK19_uc003nyt.3_Missense_Mutation_p.D46N|DOM3Z_uc003nyu.1_5'Flank|STK19_uc011dow.2_Missense_Mutation_p.D89N|STK19_uc011dox.1_Missense_Mutation_p.D46N|STK19_uc003nyw.3_Missense_Mutation_p.D89N|STK19_uc010jtn.1_Non-coding_Transcript	NM_032454	NP_115830	P49842	STK19_HUMAN	Homo sapiens serine/threonine kinase 19 (STK19), transcript variant 2, mRNA.	89			D -> N (in a metastatic melanoma sample; somatic mutation).			nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.D89N(6)|p.E88K(1)		skin(5)|upper_aerodigestive_tract(2)	7						TGCGCCGGAAGACCCTATTTT	0.582000														64			19		0	0	0.00188189	0	0
FLG2	388698	broad.mit.edu	37	1	152328532	152328532	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:152328532G>A	uc001ezw.4	-	2	1803	c.1730C>T	c.(1729-1731)tCc>tTc	p.S577F	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	577	Ser-rich.						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)			AAAGCCAGTGGATTGACCTGA	0.522000														114			41		0	0	0.00170553	0	0
SLC4A8	9498	broad.mit.edu	37	12	51856188	51856188	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:51856188G>A	uc001rys.1	+	9	1374	c.1196G>A	c.(1195-1197)gGa>gAa	p.G399E	SLC4A8_uc010sni.2_Missense_Mutation_p.G346E|SLC4A8_uc001rym.3_Missense_Mutation_p.G346E|SLC4A8_uc001ryn.3_Missense_Mutation_p.G346E|SLC4A8_uc001ryo.2_Missense_Mutation_p.G346E|SLC4A8_uc001ryp.1_3'UTR|SLC4A8_uc010snj.2_Missense_Mutation_p.G426E|SLC4A8_uc001ryq.4_Missense_Mutation_p.G399E|SLC4A8_uc001ryr.3_Missense_Mutation_p.G399E|SLC4A8_uc010snk.2_Missense_Mutation_p.G346E	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA.	399					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)		CTCCCTCCAGGAGAGTGGGAT	0.488000														25			5		0	0	0.000602214	0	0
GLMN	11146	broad.mit.edu	37	1	92754650	92754651	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:92754650_92754651CC>TT	uc001dor.3	-	5	567_568	c.452_453GG>AA	c.(451-453)tgg>tAA	p.W151*	GLMN_uc009wdg.3_Non-coding_Transcript|GLMN_uc001dos.3_Nonsense_Mutation_p.W151*	NM_053274	NP_444504	Q92990	GLMN_HUMAN	Homo sapiens glomulin, FKBP associated protein (GLMN), mRNA.	151					muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		ATAGCTGATTCCAAAGGGTAGA	0.371000									Multiple Glomus Tumors (of the Skin), Familial					43			13		0	0	6.4e-05	0	0
FREM2	341640	broad.mit.edu	37	13	39263573	39263573	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr13:39263573C>T	uc001uwv.3	+	0	2401	c.2092C>T	c.(2092-2094)Cgc>Tgc	p.R698C		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	698					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TCCTGTGGATCGCCTCCCTCC	0.557000														44			9		0	0	0.000274275	0	0
PTPN13	5783	broad.mit.edu	37	4	87690977	87690977	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:87690977T>A	uc003hpz.3	+	28	5025	c.4545T>A	c.(4543-4545)ttT>ttA	p.F1515L	PTPN13_uc003hpy.3_Missense_Mutation_p.F1520L|PTPN13_uc003hqa.3_Missense_Mutation_p.F1496L|PTPN13_uc003hqb.3_Missense_Mutation_p.F1324L|PTPN13_uc003hqc.1_5'UTR	NM_080683	NP_542414	Q12923	PTN13_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) (PTPN13), transcript variant 1, mRNA.	1515	PDZ 3.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GATTCAGTTTTTCTCGAGAAG	0.318000														40			10		0	0	0.000978159	0	0
KIF5A	3798	broad.mit.edu	37	12	57960968	57960968	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:57960968G>A	uc001sor.1	+	6	769	c.561G>A	c.(559-561)ggG>ggA	p.G187G	KIF5A_uc010srr.1_Silent_p.G98G	NM_004984	NP_004975	Q12840	KIF5A_HUMAN	Homo sapiens kinesin family member 5A (KIF5A), mRNA.	187	Kinesin-motor.|Microtubule-binding.				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						TTGATGAAGGGAAATCAAATC	0.507000														65			10		0	0	0.000978159	0	0
ACTN1	87	broad.mit.edu	37	14	69371394	69371394	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr14:69371394G>A	uc001xkl.3	-	6	964	c.654C>T	c.(652-654)atC>atT	p.I218I	ACTN1_uc010ttb.2_Silent_p.I153I|ACTN1_uc001xkm.3_Silent_p.I218I|ACTN1_uc001xkn.3_Silent_p.I218I|ACTN1_uc001xko.1_Silent_p.I153I|ACTN1_uc010ttd.1_Silent_p.I197I	NM_001102	NP_001093	P12814	ACTN1_HUMAN	Homo sapiens actinin, alpha 1 (ACTN1), transcript variant 2, mRNA.	218	Actin-binding.|CH 2.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		GCATCTTGGGGATGTCCAGGT	0.542000														40			8		0	0	0.00136819	0	0
TRANK1	9881	broad.mit.edu	37	3	36893645	36893645	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:36893645C>T	uc003cgj.3	-	12	4857	c.4609G>A	c.(4609-4611)Gcc>Acc	p.A1537T		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1537					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						ACCTGGTGGGCTCCAAATTCA	0.388000														23			7		0	0	0.00198382	0	0
OR2T1	26696	broad.mit.edu	37	1	248569717	248569717	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:248569717C>T	uc010pzm.2	+	0	422	c.422C>T	c.(421-423)aCc>aTc	p.T141I		NM_030904	NP_112166	O43869	OR2T1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 1 (OR2T1), mRNA.	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	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)			GATCAAAGGACCATTTCCTTT	0.478000														31			17		0	0	0.000566183	0	0
RIT2	6014	broad.mit.edu	37	18	40554088	40554088	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr18:40554088C>T	uc002lav.3	-	2	358	c.185G>A	c.(184-186)aGg>aAg	p.R62K	RIT2_uc010dnf.3_Missense_Mutation_p.R62K	NM_002930	NP_002921	Q99578	RIT2_HUMAN	Homo sapiens Ras-like without CAAX 2 (RIT2), mRNA.	62					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	GTP binding|GTPase activity|calmodulin binding			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATTGTCAATCCTGACCTGGGT	0.363000														12			4		0	0	0.00024832	0	0
BCL9L	283149	broad.mit.edu	37	11	118769574	118769574	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:118769574G>A	uc001pug.3	-	7	5015	c.4050C>T	c.(4048-4050)ccC>ccT	p.P1350P	BCL9L_uc009zal.3_Silent_p.P1345P	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	Homo sapiens B-cell CLL/lymphoma 9-like (BCL9L), mRNA.	1350	Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GCTGAGCCTTGGGGGGCTGGT	0.622000														46			11		0	0	0.000978159	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94668167	94668167	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:94668167C>T	uc001dqj.4	-	10	1445	c.1076G>A	c.(1075-1077)gGa>gAa	p.G359E	ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dql.3_Missense_Mutation_p.G359E	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	359					Rho protein signal transduction	cytosol	Rho GTPase activator activity|metal ion binding			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TTTTGCTAATCCGCCACTTGA	0.373000														76			16		0	0	0.00074312	0	0
COL8A1	1295	broad.mit.edu	37	3	99513167	99513167	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:99513167G>A	uc003dti.1	+	2	553	c.425G>A	c.(424-426)gGg>gAg	p.G142E	MIR548G_uc021xbq.1_Intron|COL8A1_uc003dtg.1_Missense_Mutation_p.G141E|COL8A1_uc003dth.1_Missense_Mutation_p.G141E	NM_020351	NP_065084	P27658	CO8A1_HUMAN	Homo sapiens collagen, type VIII, alpha 1 (COL8A1), transcript variant 2, mRNA.	141	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						CCAGGTCATGGGATACCTGGA	0.567000														30			5		0	0	0.000602214	0	0
XYLB	9942	broad.mit.edu	37	3	38411643	38411643	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:38411643C>A	uc003cic.2	+	8	852	c.743C>A	c.(742-744)cCa>cAa	p.P248Q	XYLB_uc011ayp.1_Missense_Mutation_p.P111Q|XYLB_uc003cid.1_Missense_Mutation_p.P170Q	NM_005108	NP_005099	O75191	XYLB_HUMAN	Homo sapiens xylulokinase homolog (H. influenzae) (XYLB), mRNA.	248					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		CTTAGCCCACCAGTACCATCA	0.502000														36			10		3.07112e-06	1.51585e-05	0.000978159	1	0
GOLGA2	2801	broad.mit.edu	37	9	131021448	131021448	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr9:131021448G>A	uc011maw.2	-	18	2027	c.2014C>T	c.(2014-2016)Cag>Tag	p.Q672*	GOLGA2_uc010mxw.3_Intron|GOLGA2_uc004buh.3_Nonsense_Mutation_p.Q145*|JA429730_uc022bod.1_5'Flank|Metazoa_SRP_uc022bof.1_5'Flank|DQ583692_uc022bog.1_5'Flank	NM_004486	NP_004477	Q08379	GOGA2_HUMAN	Homo sapiens golgin A2 (GOLGA2), mRNA.	672						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						TCCCTCACCTGGGTTTCCTGC	0.632000														25			4		0	0	0.000602214	0	0
IFT80	57560	broad.mit.edu	37	3	160083916	160083916	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:160083916C>A	uc021xgr.1	-	4	510	c.464G>T	c.(463-465)tGg>tTg	p.W155L	IFT80_uc003fda.3_Non-coding_Transcript|IFT80_uc003fdb.2_Missense_Mutation_p.W18L|IFT80_uc021xgq.1_Missense_Mutation_p.W153L|IFT80_uc003fde.2_Missense_Mutation_p.W18L|IFT80_uc003fdd.2_Intron	NM_020800	NP_065851	Q9P2H3	IFT80_HUMAN	Homo sapiens intraflagellar transport 80 homolog (Chlamydomonas) (IFT80), transcript variant 1, mRNA.	155						cilium axoneme|microtubule basal body		p.A154T(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			ATCAGGGCCCCACGCTACTGA	0.353000														52			6		0.00116845	0.0057017	0.00116845	1	0
ARSA	410	broad.mit.edu	37	22	51064619	51064619	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr22:51064619C>T	uc003bna.4	-	4	946	c.684G>A	c.(682-684)gaG>gaA	p.E228E	ARSA_uc021wsd.1_Silent_p.E314E|ARSA_uc021wse.1_Silent_p.E314E|ARSA_uc021wsf.1_Silent_p.E314E|ARSA_uc003bmz.4_Silent_p.E312E	NM_001085428	NP_001078897	P15289	ARSA_HUMAN	Homo sapiens arylsulfatase A (ARSA), transcript variant 5, mRNA.	312						lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)	CCAAGGCAGGCTCTCGGACAC	0.642000														11			8		0	0	0.000157383	0	0
IRAK4	51135	broad.mit.edu	37	12	44165028	44165028	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:44165028T>A	uc001rnu.3	+	3	297	c.167T>A	c.(166-168)tTt>tAt	p.F56Y	IRAK4_uc001rnt.3_Missense_Mutation_p.F56Y|IRAK4_uc001rnx.3_Intron|IRAK4_uc001rny.3_Intron|IRAK4_uc010sky.1_Intron|IRAK4_uc001rnv.3_5'UTR|IRAK4_uc001rnw.3_5'UTR	NM_001114182	NP_001138730	Q9NWZ3	IRAK4_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 4 (IRAK4), transcript variant 1, mRNA.	56	Death.				MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity					all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		TTAAGGAGATTTGAAGCATTA	0.348000														30			5		0	0	0.000602214	0	0
NLRP5	126206	broad.mit.edu	37	19	56539808	56539808	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:56539808C>T	uc002qmj.3	+	6	2209	c.2209C>T	c.(2209-2211)Cgg>Tgg	p.R737W	NLRP5_uc002qmi.3_Missense_Mutation_p.R718W	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	737						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)		GCGGAAAATTCGGGTGGATGT	0.498000														120			28		0	0	0.000720815	0	0
FAM40A	85369	broad.mit.edu	37	1	110596512	110596512	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:110596512C>T	uc001dza.1	+	20	2511	c.2492C>T	c.(2491-2493)tCc>tTc	p.S831F	FAM40A_uc001dyz.1_Missense_Mutation_p.S736F|FAM40A_uc009wfp.1_Missense_Mutation_p.S655F	NM_033088	NP_149079	Q5VSL9	FA40A_HUMAN	Homo sapiens family with sequence similarity 40, member A (FAM40A), mRNA.	831						nucleus	protein binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)	23		all_cancers(81;8.51e-05)|all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0154)|all cancers(265;0.0732)|Epithelial(280;0.0781)|Colorectal(144;0.115)|LUSC - Lung squamous cell carcinoma(189;0.137)		AAGCCCATTTCCTGGGAAGAG	0.527000											OREG0013647	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		52			10		0	0	0.000978159	0	0
A1CF	29974	broad.mit.edu	37	10	52619618	52619618	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:52619618C>T	uc001jjj.3	-	2	271	c.83G>A	c.(82-84)gGa>gAa	p.G28E	A1CF_uc010qho.2_5'UTR|A1CF_uc010qhn.2_5'UTR|A1CF_uc009xov.3_Missense_Mutation_p.G28E|A1CF_uc001jji.3_Missense_Mutation_p.G28E|A1CF_uc001jjh.3_5'UTR|A1CF_uc001jjk.1_Missense_Mutation_p.G28E	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	28					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	p.T27S(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						CAAGCTATATCCTGTGCGCTG	0.498000														23			5		0	0	0.00198382	0	0
BFSP2	8419	broad.mit.edu	37	3	133119167	133119167	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:133119167C>T	uc003epn.1	+	0	378	c.240C>T	c.(238-240)atC>atT	p.I80I		NM_003571	NP_003562	Q13515	BFSP2_HUMAN	Homo sapiens beaded filament structural protein 2, phakinin (BFSP2), mRNA.	80	Head.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						CCCTCGGCATCAGCAGTGTCT	0.657000														60			6		0	0	0.00116845	0	0
GPR141	353345	broad.mit.edu	37	7	37780129	37780129	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:37780129T>A	uc003tfm.1	+	0	134	c.134T>A	c.(133-135)aTg>aAg	p.M45K	BC043356_uc003tfl.3_Intron	NM_181791	NP_861456	Q7Z602	GP141_HUMAN	Homo sapiens G protein-coupled receptor 141 (GPR141), mRNA.	45						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTGGTGAAAATGAACACCCGG	0.498000														28			6		0	0	0.00116845	0	0
HIST1H1B	3009	broad.mit.edu	37	6	27834654	27834654	+	Silent	SNP	G	C	C			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:27834654G>C	uc003njx.3	-	0	706	c.654C>G	c.(652-654)gcC>gcG	p.A218A		NM_005322	NP_005313	P16401	H15_HUMAN	Homo sapiens histone cluster 1, H1b (HIST1H1B), mRNA.	218				Missing (in Ref. 5; AA sequence).	nucleosome assembly	nucleosome|nucleus	DNA binding	p.A218A(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						CCGCCTTCTTGGCCTTTGCAG	0.527000														32			7		0	0	0.00198382	0	0
BSDC1	55108	broad.mit.edu	37	1	32849465	32849465	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:32849465G>C	uc001bvi.3	-	3	421	c.374C>G	c.(373-375)cCg>cGg	p.P125R	BSDC1_uc001bvh.4_Missense_Mutation_p.P108R|BSDC1_uc010ohg.2_Missense_Mutation_p.P125R|BSDC1_uc010ohh.2_Intron|BSDC1_uc010ohi.2_Intron|BSDC1_uc001bvg.4_Non-coding_Transcript|BSDC1_uc001bvj.3_Missense_Mutation_p.P4R			Q9NW68	BSDC1_HUMAN	Homo sapiens BSD domain containing 1 (BSDC1), transcript variant 1, mRNA.	108							protein binding	p.P125L(2)		breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TGTGCCAGACGGTGTGCCCAT	0.522000														68			5		0	0	0.000602214	0	0
GABRA3	2556	broad.mit.edu	37	X	151336803	151336803	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chrX:151336803G>A	uc010ntk.1	-	9	1616	c.1376C>T	c.(1375-1377)tCc>tTc	p.S459F		NM_000808	NP_000799	P34903	GBRA3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 3 (GABRA3), mRNA.	459					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding	p.S459F(2)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GATGATGCGGGAAATTTTGTC	0.498000														27			12		0	0	0.00185496	0	0
KCND2	3751	broad.mit.edu	37	7	119915147	119915147	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:119915147C>T	uc003vjj.1	+	0	1426	c.461C>T	c.(460-462)aCc>aTc	p.T154I		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	154					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)					GACGCGGATACCGACACCGCT	0.622000														58			6		0	0	0.00116845	0	0
SLC37A1	54020	broad.mit.edu	37	21	43959705	43959705	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr21:43959705G>A	uc002zbj.3	+	5	1416	c.434G>A	c.(433-435)gGc>gAc	p.G145D	SLC37A1_uc002zbi.3_Missense_Mutation_p.G145D	NM_018964	NP_061837	P57057	GLPT_HUMAN	Homo sapiens solute carrier family 37 (glycerol-3-phosphate transporter), member 1 (SLC37A1), mRNA.	145					carbohydrate transport|transmembrane transport	integral to membrane				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						GCCCTGTTCGGCTTAGGGTAT	0.537000														35			8		0	0	0.000673444	0	0
TCHHL1	126637	broad.mit.edu	37	1	152059676	152059676	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:152059676C>T	uc001ezo.1	-	2	547	c.482G>A	c.(481-483)aGa>aAa	p.R161K		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	161							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)			CTTGGCTTCTCTCCATGGGTC	0.453000														55			14		0	0	0.000308642	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475257	140475257	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:140475257C>T	uc003lil.3	+	0	1021	c.883C>T	c.(883-885)Cga>Tga	p.R295*	PCDHB2_uc003lim.1_5'UTR	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	295	Cadherin 3.				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)			CAAAACGTTTCGATTAAGTGC	0.428000														66			20		0	0	0.00121646	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8661990	8661990	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:8661990G>A	uc002mkj.1	-	7	1195	c.921C>T	c.(919-921)gcC>gcT	p.A307A	ADAMTS10_uc002mkk.1_5'UTR	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	307	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GGGACTTCCCGGCATGGTGGG	0.582000														48			7		0	0	0.000274275	0	0
ARID3C	138715	broad.mit.edu	37	9	34623474	34623474	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr9:34623474G>A	uc011lon.2	-	3	813	c.813C>T	c.(811-813)tcC>tcT	p.S271S	DCTN3_uc003zuw.1_5'Flank|DCTN3_uc003zux.1_5'Flank	NM_001017363	NP_001017363	A6NKF2	ARI3C_HUMAN	Homo sapiens AT rich interactive domain 3C (BRIGHT-like) (ARID3C), mRNA.	271	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		CTGGCAGGCCGGAGGTGGAAC	0.682000														51			9		0	0	0.000274275	0	0
OR52L1	338751	broad.mit.edu	37	11	6007440	6007440	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:6007440G>A	uc001mcd.2	-	0	776	c.721C>T	c.(721-723)Cag>Tag	p.Q241*		NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily L, member 1 (OR52L1), mRNA.	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F241F(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCACTGCCTGGAGGATGTGG	0.512000														56			10		0	0	0.00136819	0	0
CD163L1	283316	broad.mit.edu	37	12	7550882	7550882	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:7550882C>T	uc010sge.2	-	6	1763	c.1737G>A	c.(1735-1737)gaG>gaA	p.E579E	CD163L1_uc001qsy.3_Silent_p.E569E	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	569						extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CAATCACATCCTCTCTGTGTA	0.403000														41			8		0	0	0.000157383	0	0
BEND7	222389	broad.mit.edu	37	10	13481408	13481408	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:13481408C>T	uc001imm.2	-	8	1468	c.1171G>A	c.(1171-1173)Gaa>Aaa	p.E391K	BEND7_uc001iml.2_Non-coding_Transcript	NM_152751	NP_689964	Q8N7W2	BEND7_HUMAN	Homo sapiens BEN domain containing 7 (BEND7), transcript variant 1, mRNA.	442	BEN.						protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						TGTCCCTTTTCTTGTGACATT	0.557000														30			6		0	0	0.000157383	0	0
OR4N3P	390539	broad.mit.edu	37	15	22414343	22414343	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr15:22414343G>A	uc001yuf.3	+	0	882	c.642G>A	c.(640-642)gtG>gtA	p.V214V	abParts_uc001yuj.2_Intron					Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA.																		ACCAGGAAGTGAAAGCTTCCA	0.363000														35			5		0	0	0.000602214	0	0
XIRP1	165904	broad.mit.edu	37	3	39226633	39226633	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:39226633G>A	uc003cjk.2	-	1	4533	c.4304C>T	c.(4303-4305)cCc>cTc	p.P1435L	XIRP1_uc003cji.3_3'UTR|XIRP1_uc003cjj.3_Missense_Mutation_p.P118L|XIRP1_uc021wvz.1_Missense_Mutation_p.P1435L	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	1435							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TGGTGAGGTGGGATCATGGTT	0.642000														70			9		0	0	0.000673444	0	0
FGGY	55277	broad.mit.edu	37	1	60073477	60073477	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:60073477C>T	uc009wac.3	+	8	1118	c.906C>T	c.(904-906)atC>atT	p.I302I	FGGY_uc001czg.2_Silent_p.I190I|FGGY_uc001czh.2_Non-coding_Transcript|FGGY_uc001czi.4_Silent_p.I302I|FGGY_uc001czl.4_Silent_p.I214I|FGGY_uc001czm.4_Silent_p.I3I	NM_001113411	NP_001106882	Q96C11	FGGY_HUMAN	Homo sapiens FGGY carbohydrate kinase domain containing (FGGY), transcript variant 1, mRNA.	302					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					CTTTCCAGATCAGCAAAGACC	0.463000														56			8		0	0	0.000157383	0	0
PPOX	5498	broad.mit.edu	37	1	161137200	161137200	+	Silent	SNP	C	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:161137200C>A	uc001fyj.2	+	3	552	c.262C>A	c.(262-264)Cgg>Agg	p.R88R	PPOX_uc001fyg.2_Silent_p.R88R|PPOX_uc010pkg.1_5'UTR|PPOX_uc001fyi.2_5'UTR|PPOX_uc010pkh.1_Intron	NM_001122764	NP_001116236	P50336	PPOX_HUMAN	Homo sapiens protoporphyrinogen oxidase (PPOX), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	88					heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GCTGCCTGTCCGGGGAGACCA	0.577000														39			13		2.23348e-06	1.10347e-05	0.000422831	1	0
DOLK	22845	broad.mit.edu	37	9	131708644	131708644	+	Silent	SNP	C	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr9:131708644C>A	uc004bwr.3	-	0	1369	c.939G>T	c.(937-939)ctG>ctT	p.L313L	NUP188_uc004bws.1_5'Flank|NUP188_uc004bwq.1_Intron	NM_014908	NP_055723	Q9UPQ8	DOLK_HUMAN	Homo sapiens dolichol kinase (DOLK), mRNA.	313					dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane|membrane fraction	dolichol kinase activity			breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						ACAGCACCACCAGGCAGGCCA	0.567000														131			6		0.00198382	0.00964398	0.00198382	1	0
OR2G6	391211	broad.mit.edu	37	1	248685416	248685416	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:248685416C>T	uc001ien.1	+	0	469	c.469C>T	c.(469-471)Cta>Tta	p.L157L		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 6 (OR2G6), mRNA.	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L157P(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CATCACCTCCCTAATTCAGTG	0.577000														22			5		0	0	0.00116845	0	0
RNF130	55819	broad.mit.edu	37	5	179467603	179467603	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:179467603G>A	uc003mll.1	-	1	699	c.292C>T	c.(292-294)Cct>Tct	p.P98S	RNF130_uc003mlm.1_Missense_Mutation_p.P98S	NM_018434	NP_060904	Q86XS8	GOLI_HUMAN	Homo sapiens ring finger protein 130 (RNF130), mRNA.	98					apoptosis	cytoplasm|integral to membrane|nucleus	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATATTAGGAGGGACAAAGAAC	0.413000														42			8		0	0	0.000442599	0	0
KRT77	374454	broad.mit.edu	37	12	53096842	53096842	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:53096842C>T	uc001saw.3	-	0	406	c.377G>A	c.(376-378)gGc>gAc	p.G126D	KRT77_uc009zmi.3_5'UTR	NM_175078	NP_778253	Q7Z794	K2C1B_HUMAN	Homo sapiens keratin 77 (KRT77), mRNA.	126	Head.					keratin filament	structural molecule activity	p.G125G(1)		NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						AGGACCAAAGCCCCCAAGCCC	0.582000														17			5		0	0	0.000602214	0	0
UNC45B	146862	broad.mit.edu	37	17	33495231	33495231	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:33495231G>A	uc002hja.3	+	9	1400	c.1303G>A	c.(1303-1305)Gag>Aag	p.E435K	UNC45B_uc002hjb.3_Missense_Mutation_p.E435K|UNC45B_uc002hjc.3_Missense_Mutation_p.E435K|UNC45B_uc010cto.3_Missense_Mutation_p.E435K	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	Homo sapiens unc-45 homolog B (C. elegans) (UNC45B), transcript variant 1, mRNA.	435					cell differentiation|muscle organ development	cytosol	binding	p.R434R(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				CTCAGAGCGCGAGACGGACCA	0.597000														27			6		0	0	0.00116845	0	0
FAM75C2	645961	broad.mit.edu	37	9	90746331	90746331	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr9:90746331C>T	uc011lti.2	-	3	1650	c.1621G>A	c.(1621-1623)Ggg>Agg	p.G541R		NM_001166137	NP_001159609	B4DYI2	B4DYI2_HUMAN	Homo sapiens family with sequence similarity 75, member C2 (FAM75C2), mRNA.	541																	GAGGTCGCCCCCAGAACCTTC	0.522000														64			17		0	0	0.00121646	0	0
LOC285501	285501	broad.mit.edu	37	4	178897057	178897057	+	RNA	SNP	A	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:178897057A>T	uc010iru.3	+	4		c.722A>T								Homo sapiens uncharacterized LOC285501 (LOC285501), non-coding RNA.														all_lung(41;6.03e-08)|Lung NSC(41;4.26e-07)|Breast(14;0.00066)|Melanoma(52;0.00168)|Prostate(90;0.0129)|all_hematologic(60;0.0202)|Renal(120;0.0246)|Colorectal(36;0.0508)|Hepatocellular(41;0.236)		all cancers(43;9.24e-25)|Epithelial(43;6.28e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.29e-10)|LUSC - Lung squamous cell carcinoma(1;2.61e-05)|Lung(1;3.22e-05)|GBM - Glioblastoma multiforme(59;0.000185)|Colorectal(24;0.000244)|STAD - Stomach adenocarcinoma(60;0.000777)|COAD - Colon adenocarcinoma(29;0.000884)		AGCCTACAGAATGTGTCTGAT	0.398000														62			9		0	0	0.000442599	0	0
GPR182	11318	broad.mit.edu	37	12	57389215	57389215	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:57389215G>A	uc021qzf.1	+	0	222	c.222G>A	c.(220-222)gtG>gtA	p.V74V	GPR182_uc001smk.3_Silent_p.V74V	NM_007264	NP_009195	O15218	GP182_HUMAN	Homo sapiens G protein-coupled receptor 182 (GPR182), mRNA.	74						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						ACCTCCTGGTGATATGCGTCA	0.617000														96			21		0	0	0.00278032	0	0
UMODL1	89766	broad.mit.edu	37	21	43504230	43504231	+	Missense_Mutation	DNP	GG	TA	TA			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr21:43504230_43504231GG>TA	uc002zag.1	+	2	356_357	c.356_357GG>TA	c.(355-357)ggg>gTA	p.G119V	UMODL1_uc002zad.1_Missense_Mutation_p.G47V|UMODL1_uc002zae.1_Missense_Mutation_p.G47V|UMODL1_uc002zaf.1_Missense_Mutation_p.G119V|UMODL1_uc010gow.1_5'Flank|UMODL1_uc002zai.1_5'Flank|UMODL1_uc010gox.1_5'Flank|UMODL1_uc010goy.1_5'Flank|UMODL1_uc002zaj.1_5'Flank|UMODL1_uc010goz.1_5'Flank	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	119	WAP.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						TCAAGACCTGGGGCCTGCCCCG	0.574000														67			10		0	0	6.4e-05	0	0
GABRB2	2561	broad.mit.edu	37	5	160721399	160721399	+	Missense_Mutation	SNP	C	T	T	rs148772321		TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:160721399C>T	uc003lys.1	-	10	1446	c.1228G>A	c.(1228-1230)Gag>Aag	p.E410K	GABRB2_uc011deh.1_Missense_Mutation_p.E211K|GABRB2_uc003lyr.1_Missense_Mutation_p.E372K|GABRB2_uc003lyt.1_Missense_Mutation_p.E372K	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	410					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel 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)	TTTTTTATCTCGAGAGTGCTC	0.463000														34			7		0	0	0.000442599	0	0
RGS8	85397	broad.mit.edu	37	1	182635159	182635159	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:182635159C>T	uc010pnw.1	-	4	396	c.138G>A	c.(136-138)tcG>tcA	p.S46S	RGS8_uc001gpn.1_Silent_p.S46S|RGS8_uc001gpm.1_Silent_p.S64S	NM_001102450	NP_001095920	P57771	RGS8_HUMAN	Homo sapiens regulator of G-protein signaling 8 (RGS8), transcript variant 2, mRNA.	46					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						CTTCTTCTGTCGATAATCTCC	0.388000														100			26		0	0	0.000586117	0	0
TRIM48	79097	broad.mit.edu	37	11	55032413	55032413	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:55032413G>A	uc010rid.2	+	1	168	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K		NM_024114	NP_077019	Q8IWZ4	TRI48_HUMAN	Homo sapiens tripartite motif containing 48 (TRIM48), mRNA.	12						intracellular	zinc ion binding			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CTTCCAGAGGGAACTCACCTG	0.483000														49			9		0	0	0.000274275	0	0
ANKRD35	148741	broad.mit.edu	37	1	145561548	145561548	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:145561548C>T	uc001eob.1	+	9	1344	c.1236C>T	c.(1234-1236)atC>atT	p.I412I	ANKRD35_uc010oyx.1_Silent_p.I255I	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	Homo sapiens ankyrin repeat domain 35 (ANKRD35), mRNA.	412										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CAGGAAAGATCCAGTATGAAG	0.532000														46			25		0	0	0.00047179	0	0
TOP3B	8940	broad.mit.edu	37	22	22323083	22323083	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr22:22323083G>A	uc002zvs.3	-	6	1081	c.646C>T	c.(646-648)Ccg>Tcg	p.P216S	TOP3B_uc010gtm.2_5'Flank|TOP3B_uc002zvt.4_Missense_Mutation_p.P216S|TOP3B_uc010gtl.3_Missense_Mutation_p.P216S	NM_003935	NP_003926	O95985	TOP3B_HUMAN	Homo sapiens topoisomerase (DNA) III beta (TOP3B), mRNA.	216					DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		GTCTGACACGGCCCAAAGGAG	0.478000														34			15		0	0	0.00244969	0	0
NOL11	25926	broad.mit.edu	37	17	65714118	65714119	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:65714118_65714119CC>AT	uc002jgd.1	+	0	58_59	c.55_56CC>AT	c.(55-57)cct>ATt	p.P19I	NOL11_uc010wql.1_5'UTR|NOL11_uc010deu.1_5'Flank	NM_015462	NP_056277	Q9H8H0	NOL11_HUMAN	Homo sapiens nucleolar protein 11 (NOL11), mRNA.	19						nucleolus				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			GAGCGCCGGGCCTGAAGGACTC	0.564000											OREG0024682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		51			13		0	0	6.4e-05	0	0
OR7C2	26658	broad.mit.edu	37	19	15052941	15052941	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:15052941T>A	uc010xoc.2	+	0	641	c.641T>A	c.(640-642)aTc>aAc	p.I214N		NM_012377	NP_036509	O60412	OR7C2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily C, member 2 (OR7C2), mRNA.	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					CTCTGTGGAATCCTATTCTCT	0.478000														57			10		0	0	0.000673444	0	0
OR2B3	442184	broad.mit.edu	37	6	29054815	29054815	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:29054815G>A	uc003nlx.3	-	0	276	c.211C>T	c.(211-213)Ctc>Ttc	p.L71F		NM_001005226	NP_001005226			Homo sapiens olfactory receptor, family 2, subfamily B, member 3 (OR2B3), mRNA.									p.L71L(1)		breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						GTATAGCAGAGATCTAAGATG	0.423000														64			10		0	0	0.000442599	0	0
OPTC	26254	broad.mit.edu	37	1	203465257	203465257	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:203465257G>A	uc001gzu.1	+	1	240	c.124G>A	c.(124-126)Gaa>Aaa	p.E42K		NM_014359	NP_055174	Q9UBM4	OPT_HUMAN	Homo sapiens opticin (OPTC), mRNA.	42						proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			CGATTCCTTTGAAGTTCTGCC	0.532000														20			12		0	0	0.00185496	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41010127	41010127	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:41010127C>T	uc003jmj.4	-	30	3680	c.3190G>A	c.(3190-3192)Gaa>Aaa	p.E1064K	HEATR7B2_uc003jmi.4_Missense_Mutation_p.E619K	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1064							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						AAACTTTCTTCTTTTTGTCTG	0.403000														40			8		0	0	0.000274275	0	0
CSMD3	114788	broad.mit.edu	37	8	113933949	113933949	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr8:113933949C>T	uc003ynu.3	-	9	1699	c.1540G>A	c.(1540-1542)Gaa>Aaa	p.E514K	CSMD3_uc003ynt.3_Missense_Mutation_p.E474K|CSMD3_uc011lhx.2_Missense_Mutation_p.E410K	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	514	Sushi 2.					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						ACATAATCTTCATCACAAGAG	0.398000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				28			6		0	0	0.000274275	0	0
OR2C3	81472	broad.mit.edu	37	1	247695301	247695301	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:247695301C>T	uc021pmb.1	-	0	513	c.513G>A	c.(511-513)ggG>ggA	p.G171G	C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Intron|C1orf150_uc001idb.4_Intron|C1orf150_uc009xgx.3_Intron|OR2C3_uc001idd.3_5'Flank|OR2C3_uc009xgy.3_Silent_p.G171G	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily C, member 3 (OR2C3), mRNA.	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TGCAATTGTTCCCACACAGCG	0.562000														15			6		0	0	0.00198382	0	0
GDF9	2661	broad.mit.edu	37	5	132200017	132200017	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:132200017G>A	uc003kxz.1	-	0	461	c.209C>T	c.(208-210)tCt>tTt	p.S70F	GDF9_uc011cxj.1_Intron|UQCRQ_uc003kya.1_5'Flank	NM_005260	NP_005251	O60383	GDF9_HUMAN	Homo sapiens growth differentiation factor 9 (GDF9), mRNA.	70					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)			TCGCCCAACAGATAGAACTTT	0.512000														58			13		0	0	0.00185496	0	0
RAD21	5885	broad.mit.edu	37	8	117870611	117870611	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr8:117870611A>G	uc003yod.3	-	4	749	c.461T>C	c.(460-462)aTt>aCt	p.I154T		NM_006265	NP_006256	O60216	RAD21_HUMAN	Homo sapiens RAD21 homolog (S. pombe) (RAD21), mRNA.	154					apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					TTCTTGTAAAATACTGATGTT	0.333000														30			9		0	0	0.000673444	0	0
PPFIBP1	8496	broad.mit.edu	37	12	27820138	27820138	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:27820138C>T	uc001ric.2	+	12	1459	c.1082C>T	c.(1081-1083)tCc>tTc	p.S361F	PPFIBP1_uc010sjr.1_Missense_Mutation_p.S192F|PPFIBP1_uc001rib.2_Missense_Mutation_p.S344F|PPFIBP1_uc001ria.3_Missense_Mutation_p.S330F|PPFIBP1_uc001rid.2_Missense_Mutation_p.S208F	NM_177444	NP_803193	Q86W92	LIPB1_HUMAN	Homo sapiens PTPRF interacting protein, binding protein 1 (liprin beta 1) (PPFIBP1), transcript variant 2, mRNA.	361					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					AATTCCAGTTCCATCTCCTCT	0.413000														29			6		0	0	0.00116845	0	0
SEC24D	9871	broad.mit.edu	37	4	119745841	119745842	+	Missense_Mutation	DNP	GG	AA	AA	rs143180885	byFrequency	TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:119745841_119745842GG>AA	uc003ici.4	-	2	453_454	c.181_182CC>TT	c.(181-183)ccc>TTc	p.P61F	SEC24D_uc003icj.4_Missense_Mutation_p.P61F|SEC24D_uc003icl.2_Non-coding_Transcript|SEC24D_uc010imz.1_Non-coding_Transcript|SEC24D_uc011cgg.1_Non-coding_Transcript	NM_014822	NP_055637	O94855	SC24D_HUMAN	Homo sapiens SEC24 family, member D (S. cerevisiae) (SEC24D), mRNA.	61	Pro-rich.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	zinc ion binding	p.G60G(1)		breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						AGGAGGTGGGGGACCCGGAGGC	0.540000														86			9		0	0	6.4e-05	0	0
TMC5	79838	broad.mit.edu	37	16	19471576	19471576	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr16:19471576C>T	uc002dgc.4	+	5	1817	c.1068C>T	c.(1066-1068)tcC>tcT	p.S356S	TMC5_uc010vaq.2_Silent_p.S356S|TMC5_uc002dgb.4_Silent_p.S356S|TMC5_uc010var.2_Silent_p.S356S|TMC5_uc002dgd.1_Silent_p.S110S|TMC5_uc002dge.4_Silent_p.S110S|TMC5_uc002dgf.4_Silent_p.S18S|TMC5_uc002dgg.4_5'UTR	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	356						integral to membrane		p.R355H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TAATCGCATCCCTTATACCCA	0.388000														39			5		0	0	0.00116845	0	0
TSPEAR	54084	broad.mit.edu	37	21	45941994	45941994	+	Splice_Site	SNP	G	T	T	rs148471285		TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr21:45941994G>T	uc002zfe.1	-	9	1403	c.1337_splice	c.e9-1	p.G446_splice	TSPEAR_uc010gpv.1_Splice_Site_p.G378_splice	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	Homo sapiens thrombospondin-type laminin G domain and EAR repeats (TSPEAR), mRNA.	446					cell adhesion	extracellular region	structural molecule activity	p.G446G(1)		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						TGTGGTTGTCGCCTGGAACCA	0.647000														54			8		0.000274275	0.00134476	0.000274275	1	0
FLRT1	23769	broad.mit.edu	37	11	63884172	63884172	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:63884172G>A	uc021qks.1	+	0	433	c.433G>A	c.(433-435)Gac>Aac	p.D145N	MACROD1_uc001nyh.3_Intron|FLRT1_uc001nyi.1_Missense_Mutation_p.D145N	NM_013280	NP_037412	Q9NZU1	FLRT1_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 1 (FLRT1), mRNA.	117					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						CATTGCCAGGGACTCGCTGGC	0.607000														29			5		0	0	0.00116845	0	0
ASCC1	51008	broad.mit.edu	37	10	73887915	73887915	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:73887915C>T	uc001jst.2	-	9	1234	c.966G>A	c.(964-966)agG>agA	p.R322R	ANAPC16_uc021psn.1_Intron|ASCC1_uc001jsr.2_Silent_p.R209R|ASCC1_uc001jss.2_Silent_p.R294R|ASCC1_uc021pso.1_Silent_p.R294R|ASCC1_uc001jsu.2_Silent_p.R294R|ASCC1_uc010qju.2_Silent_p.R315R	NM_001198799	NP_001185728	Q8N9N2	ASCC1_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 1 (ASCC1), transcript variant 1, mRNA.	322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	RNA binding			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	7						AGAGATTGTACCTGCCTTCAG	0.363000														58			9		0	0	0.00136819	0	0
CPE	1363	broad.mit.edu	37	4	166418673	166418673	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:166418673G>A	uc003irg.4	+	8	1619	c.1342G>A	c.(1342-1344)Gaa>Aaa	p.E448K		NM_001873	NP_001864	P16870	CBPE_HUMAN	Homo sapiens carboxypeptidase E (CPE), mRNA.	448					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGTTGATTTTGAACTGGAGTC	0.284000														120			23		0	0	0.000878237	0	0
COL1A1	1277	broad.mit.edu	37	17	48268826	48268826	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:48268826G>A	uc002iqm.3	-	31	2279	c.2153C>T	c.(2152-2154)cCc>cTc	p.P718L		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	718	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	CTGGCTACCGGGAGCTCCAGG	0.622000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta							41			7		0	0	0.000442599	0	0
SDK2	54549	broad.mit.edu	37	17	71418541	71418541	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:71418541C>T	uc010dfm.3	-	14	1930	c.1930G>A	c.(1930-1932)Gac>Aac	p.D644N	SDK2_uc010dfn.2_Missense_Mutation_p.D323N	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	644	Fibronectin type-III 1.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GCTTTGGGGTCCACACTGGCC	0.577000														56			9		0	0	0.000978159	0	0
ASXL3	80816	broad.mit.edu	37	18	31323920	31323920	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr18:31323920C>T	uc010dmg.1	+	11	4163	c.4108C>T	c.(4108-4110)Cct>Tct	p.P1370S	ASXL3_uc002kxq.2_Missense_Mutation_p.P1077S	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1370					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CAACAGATTTCCTTCTGAGAA	0.498000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		77			43		0	0	0.00222228	0	0
MAML3	55534	broad.mit.edu	37	4	140811010	140811010	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:140811010G>A	uc021xsg.1	-	1	2332	c.1580C>T	c.(1579-1581)cCa>cTa	p.P527L	MAML3_uc011chd.1_Intron	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	Homo sapiens mastermind-like 3 (Drosophila) (MAML3), mRNA.	523	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					TGCTCCATATGGACTAGAGGG	0.498000														138			20		0	0	0.000958276	0	0
LRP5	4041	broad.mit.edu	37	11	68216416	68216416	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:68216416C>T	uc001ont.3	+	22	4801	c.4726C>T	c.(4726-4728)Cca>Tca	p.P1576S	LRP5_uc009ysg.3_Missense_Mutation_p.P986S	NM_002335	NP_002326	O75197	LRP5_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.	1576	Pro-rich.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTATCCACCCCCACCCACGCC	0.657000														21			8		0	0	0.000673444	0	0
KCNJ4	3761	broad.mit.edu	37	22	38824022	38824022	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr22:38824022G>A	uc003avs.1	-	1	213	c.116C>T	c.(115-117)tCg>tTg	p.S39L	KCNJ4_uc003avt.1_Missense_Mutation_p.S39L|KCNJ4_uc021wpp.1_Missense_Mutation_p.S39L	NM_004981	NP_690607	P48050	IRK4_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 4 (KCNJ4), transcript variant 2, mRNA.	39					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	PDZ domain binding|inward rectifier potassium channel activity	p.K38K(1)		endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					GTAGCGCTGCGACTTGTTGCT	0.617000														117			86		0	0	0.000781405	0	0
HRNR	388697	broad.mit.edu	37	1	152188491	152188491	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:152188491C>T	uc001ezt.1	-	2	5690	c.5614G>A	c.(5614-5616)Ggt>Agt	p.G1872S		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	1872					keratinization		calcium ion binding|protein binding	p.G1872C(2)		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)			TCATGGTGACCAAATCCAGAA	0.572000														528			46		0	0	0.000781405	0	0
SEL1L3	23231	broad.mit.edu	37	4	25783942	25783942	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:25783942C>T	uc003gru.4	-	14	2531	c.2379G>A	c.(2377-2379)atG>atA	p.M793I	SEL1L3_uc003grv.3_Missense_Mutation_p.M200I	NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 3 (C. elegans) (SEL1L3), mRNA.	793						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						CTGGGTTCCCCATTTCTTCTG	0.463000														44			5		0	0	0.000602214	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84581959	84581959	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr15:84581959G>A	uc002bjz.4	+	15	2040	c.1816G>A	c.(1816-1818)Gag>Aag	p.E606K	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.E606K	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	606	TSP type-1 4.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.P605L(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGAGCTGCCCGAGGAAGAGTG	0.637000														41			12		0	0	0.000978159	0	0
SPEF2	79925	broad.mit.edu	37	5	35700732	35700732	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:35700732C>T	uc003jjo.3	+	15	2387	c.2276C>T	c.(2275-2277)tCc>tTc	p.S759F	SPEF2_uc003jjq.4_Missense_Mutation_p.S754F|SPEF2_uc003jjp.1_Missense_Mutation_p.S245F	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	759					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)			GCACAAAAATCCACATTGGCT	0.388000														27			5		0	0	0.000602214	0	0
PPIP5K1	9677	broad.mit.edu	37	15	43827390	43827390	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr15:43827390G>A	uc001zrw.3	-	30	3988	c.3784C>T	c.(3784-3786)Cct>Tct	p.P1262S	PPIP5K1_uc021sjw.1_Missense_Mutation_p.P1237S|PPIP5K1_uc001zrx.2_Missense_Mutation_p.P1235S|PPIP5K1_uc001zry.4_Missense_Mutation_p.P1237S|PPIP5K1_uc021sjx.1_Missense_Mutation_p.P191S	NM_001130858	NP_001124330	Q6PFW1	VIP1_HUMAN	Homo sapiens diphosphoinositol pentakisphosphate kinase 1 (PPIP5K1), transcript variant 5, mRNA.	1262					inositol metabolic process	cytosol	ATP binding|acid phosphatase activity|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			large_intestine(1)	1						CTGATGTCAGGGACCTCCTGA	0.562000														39			7		0	0	0.00198382	0	0
SCN10A	6336	broad.mit.edu	37	3	38738878	38738878	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:38738878C>T	uc003ciq.3	-	26	5833	c.5833G>A	c.(5833-5835)Gaa>Aaa	p.E1945K		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1945					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)	CTGGTGGCTTCATCTTCATTT	0.478000														55			12		0	0	0.000978159	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146997332	146997332	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:146997332G>A	uc003weu.2	+	8	1964	c.1448G>A	c.(1447-1449)cGa>cAa	p.R483Q	MIR548I4_uc022aoo.1_Intron	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	483	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TCAGCAGTTCGAACTAATAGT	0.423000										HNSCC(39;0.1)				36			21		0	0	0.00188189	0	0
BCL11A	53335	broad.mit.edu	37	2	60688272	60688272	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:60688272C>T	uc002sae.1	-	3	2003	c.1775G>A	c.(1774-1776)gGc>gAc	p.G592D	BCL11A_uc002sab.3_Missense_Mutation_p.G592D|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Missense_Mutation_p.G261D|BCL11A_uc010ypj.2_Missense_Mutation_p.G558D|BCL11A_uc002sad.1_Missense_Mutation_p.G440D|BCL11A_uc002saf.1_Missense_Mutation_p.G558D	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	592					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)			GTCCGACTCGCCGGCCACCGA	0.687000			T	IGH@	B-CLL									130			42		0	0	0.000781405	0	0
CCDC77	84318	broad.mit.edu	37	12	542444	542444	+	Silent	SNP	T	C	C			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:542444T>C	uc001qig.3	+	8	957	c.777T>C	c.(775-777)gtT>gtC	p.V259V	CCDC77_uc009zdk.3_Silent_p.V227V|CCDC77_uc010sdp.2_Silent_p.V227V|CCDC77_uc010sdq.2_Silent_p.V227V	NM_032358	NP_001123620	Q9BR77	CCD77_HUMAN	Homo sapiens coiled-coil domain containing 77 (CCDC77), transcript variant 1, mRNA.	259						centrosome				cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			AAATACAAGTTCAGCACCAGA	0.428000														64			4		0	0	0.00024832	0	0
MAGEA11	4110	broad.mit.edu	37	X	148798377	148798377	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chrX:148798377C>T	uc004fdq.3	+	4	1386	c.1231C>T	c.(1231-1233)Ccc>Tcc	p.P411S	MAGEA11_uc004fdr.3_Missense_Mutation_p.P382S	NM_005366	NP_005357	P43364	MAGAB_HUMAN	Homo sapiens melanoma antigen family A, 11 (MAGEA11), transcript variant 1, mRNA.	411	MAGE.					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)					TGGGAGGGATCCCACTTCTTA	0.547000														33			23		0	0	0.00278032	0	0
VWA1	64856	broad.mit.edu	37	1	1372309	1372309	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:1372309C>T	uc001afs.3	+	1	302	c.76C>T	c.(76-78)Cca>Tca	p.P26S	VWA1_uc001afr.3_Intron	NM_022834	NP_073745	Q6PCB0	VWA1_HUMAN	Homo sapiens von Willebrand factor A domain containing 1 (VWA1), transcript variant 1, mRNA.	26						basement membrane				NS(1)|breast(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TCCCCCAGGTCCACCAGCATC	0.642000														56			15		0	0	0.00244969	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103440442	103440442	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr14:103440442G>A	uc001ymi.1	-	11	1784	c.1552C>T	c.(1552-1554)Cgc>Tgc	p.R518C		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA.	518					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CGCTCTTGGCGAAGCGCCACT	0.557000														31			8		0	0	0.000157383	0	0
STEAP3	55240	broad.mit.edu	37	2	120003228	120003228	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:120003228C>T	uc002tlp.3	+	2	313	c.156C>T	c.(154-156)ttC>ttT	p.F52F	STEAP3_uc002tlq.3_Silent_p.F62F|STEAP3_uc002tlr.3_Silent_p.F52F|STEAP3_uc010fle.3_Silent_p.F52F	NM_018234	NP_060704	Q658P3	STEA3_HUMAN	Homo sapiens STEAP family member 3, metalloreductase (STEAP3), transcript variant 2, mRNA.	52					apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						GCTCTGGCTTCAAAGTGGTGG	0.652000														28			9		0	0	0.000673444	0	0
PLCB1	23236	broad.mit.edu	37	20	8717790	8717790	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr20:8717790G>A	uc002wnb.3	+	19	2162	c.2159G>A	c.(2158-2160)gGa>gAa	p.G720E	PLCB1_uc010zrb.1_Missense_Mutation_p.G619E|PLCB1_uc002wna.3_Missense_Mutation_p.G720E|PLCB1_uc002wnc.1_Missense_Mutation_p.G619E|PLCB1_uc002wnd.1_Missense_Mutation_p.G297E	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	720	C2.				CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|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 JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|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						ACATCCCAAGGAAATGCTGTG	0.383000														51			6		0	0	0.00198382	0	0
ESCO1	114799	broad.mit.edu	37	18	19153719	19153719	+	Silent	SNP	A	G	G			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr18:19153719A>G	uc002kth.1	-	3	2020	c.1086T>C	c.(1084-1086)tgT>tgC	p.C362C	ESCO1_uc002kti.1_Non-coding_Transcript	NM_052911	NP_443143	Q5FWF5	ESCO1_HUMAN	Homo sapiens establishment of cohesion 1 homolog 1 (S. cerevisiae) (ESCO1), mRNA.	362					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						AAAAACGATTACATTGCACAT	0.348000														98			20		0	0	0.00188189	0	0
TFAP2D	83741	broad.mit.edu	37	6	50696950	50696950	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:50696950G>A	uc003paf.3	+	4	1320	c.808G>A	c.(808-810)Gat>Aat	p.D270N	TFAP2D_uc011dwt.2_Non-coding_Transcript	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN	Homo sapiens transcription factor AP-2 delta (activating enhancer binding protein 2 delta) (TFAP2D), mRNA.	270							DNA binding|sequence-specific DNA binding transcription factor activity	p.D270Y(2)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					AGAGAAATTGGATAGGCTTGG	0.388000														61			12		0	0	0.00244969	0	0
PPM1E	22843	broad.mit.edu	37	17	57043131	57043131	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:57043131C>T	uc002iwx.3	+	2	787	c.660C>T	c.(658-660)ttC>ttT	p.F220F	PPM1E_uc010ddd.3_Intron	NM_014906	NP_055721	Q8WY54	PPM1E_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1E (PPM1E), mRNA.	229					protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			TGAAAGACTTCCCCCTCCGCA	0.473000														86			18		0	0	0.00074312	0	0
NRP1	8829	broad.mit.edu	37	10	33475384	33475384	+	Missense_Mutation	SNP	C	T	T	rs139081795		TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:33475384C>T	uc001iwx.4	-	13	2618	c.2095G>A	c.(2095-2097)Gaa>Aaa	p.E699K	NRP1_uc001iwv.4_Missense_Mutation_p.E699K|NRP1_uc001iwy.4_Missense_Mutation_p.E692K|NRP1_uc009xlz.3_Missense_Mutation_p.E693K|NRP1_uc001iww.4_Missense_Mutation_p.E511K	NM_003873	NP_003864	O14786	NRP1_HUMAN	Homo sapiens neuropilin 1 (NRP1), transcript variant 1, mRNA.	699	MAM.				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)	TTCTGATTTTCGTCAGCTTGG	0.493000														47			7		0	0	0.000157383	0	0
OSBPL6	114880	broad.mit.edu	37	2	179255912	179255912	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:179255912T>G	uc002uly.3	+	22	3033	c.2489T>G	c.(2488-2490)gTg>gGg	p.V830G	MIR548N_uc021vsx.1_Intron|OSBPL6_uc002ulx.3_Missense_Mutation_p.V805G|OSBPL6_uc010zfe.2_Missense_Mutation_p.V774G|OSBPL6_uc002ulz.3_Missense_Mutation_p.V769G|OSBPL6_uc002uma.3_Missense_Mutation_p.V809G	NM_001201480	NP_001188409	Q9BZF3	OSBL6_HUMAN	Homo sapiens oxysterol binding protein-like 6 (OSBPL6), transcript variant 3, mRNA.	805					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TACTGTGGTGTGGCCCCCTCT	0.527000														43			7		0	0	0.000274275	0	0
SCN11A	11280	broad.mit.edu	37	3	38949533	38949533	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:38949533G>A	uc021wvy.1	-	9	1579	c.1380C>T	c.(1378-1380)ctC>ctT	p.L460L		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	460					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)	TATTACCAAAGAGCTTTCTCT	0.398000														56			8		0	0	0.000157383	0	0
KLHL1	57626	broad.mit.edu	37	13	70549773	70549773	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr13:70549773T>C	uc001vip.3	-	1	1453	c.659A>G	c.(658-660)aAc>aGc	p.N220S	KLHL1_uc010thm.2_Intron	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	Homo sapiens kelch-like 1 (Drosophila) (KLHL1), mRNA.	220	BTB.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TATCTTTCGGTTCCCAACAAT	0.408000														56			8		0	0	0.000442599	0	0
NEB	4703	broad.mit.edu	37	2	152369315	152369315	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:152369315T>C	uc021vrb.1	-	131	18204	c.18175A>G	c.(18175-18177)Aat>Gat	p.N6059D	NEB_uc002txr.3_Missense_Mutation_p.N2525D|NEB_uc002txu.3_Missense_Mutation_p.N7760D|NEB_uc021vrc.1_Missense_Mutation_p.N7760D|NEB_uc010fnx.3_Missense_Mutation_p.N6047D|NEB_uc021vrd.1_Missense_Mutation_p.N6059D|NEB_uc002txt.4_Missense_Mutation_p.N564D	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	6059					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	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)		GAAGTGAAATTGGCTTTCTCC	0.393000														29			7		0	0	0.000274275	0	0
ZNF239	8187	broad.mit.edu	37	10	44052942	44052942	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:44052942G>A	uc001jaw.4	-	1	1239	c.586C>T	c.(586-588)Cca>Tca	p.P196S	ZNF239_uc001jax.4_Missense_Mutation_p.P196S|ZNF239_uc009xmj.3_Missense_Mutation_p.P196S|ZNF239_uc009xmk.3_Missense_Mutation_p.P196S|ZNF239_uc021pph.1_Missense_Mutation_p.P196S	NM_005674	NP_005665	Q16600	ZN239_HUMAN	Homo sapiens zinc finger protein 239 (ZNF239), transcript variant 1, mRNA.	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TTCTCATATGGATGACCATCT	0.438000														35			13		0	0	0.00185496	0	0
SLC26A4	5172	broad.mit.edu	37	7	107315535	107315535	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:107315535G>A	uc003vep.3	+	5	970	c.746G>A	c.(745-747)gGa>gAa	p.G249E	Mir_548_uc022ajy.1_5'Flank	NM_000441	NP_000432	O43511	S26A4_HUMAN	Homo sapiens solute carrier family 26, member 4 (SLC26A4), mRNA.	249					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						AACTACAATGGAGTTCTCTCT	0.448000									Pendred syndrome					110			15		0	0	0.000308642	0	0
ZFP64	55734	broad.mit.edu	37	20	50769848	50769848	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr20:50769848G>A	uc002xwl.3	-	5	1232	c.883C>T	c.(883-885)Cgc>Tgc	p.R295C	ZFP64_uc002xwk.3_Intron|ZFP64_uc002xwm.3_Missense_Mutation_p.R293C|ZFP64_uc002xwn.3_Missense_Mutation_p.R241C	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN	Homo sapiens zinc finger protein 64 homolog (mouse) (ZFP64), transcript variant 1, mRNA.	295					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						ATGGTGCAGCGGACATTGCAG	0.537000														30			10		0	0	0.000978159	0	0
MCM3AP	8888	broad.mit.edu	37	21	47699992	47699992	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr21:47699992G>A	uc002zir.1	-	3	1618	c.1582C>T	c.(1582-1584)Ccg>Tcg	p.P528S		NM_003906	NP_003897	O60318	MCM3A_HUMAN	Homo sapiens minichromosome maintenance complex component 3 associated protein (MCM3AP), mRNA.	528					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	p.S527G(2)|p.P528Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TCTGTGCTCGGGCTGACTTCA	0.537000														87			20		0	0	0.00152264	0	0
FCRL5	83416	broad.mit.edu	37	1	157514175	157514175	+	Missense_Mutation	SNP	G	A	A	rs138414681		TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:157514175G>A	uc009wsm.3	-	4	879	c.721C>T	c.(721-723)Ctc>Ttc	p.L241F	FCRL5_uc001fqu.3_Missense_Mutation_p.L241F|FCRL5_uc010phv.1_Missense_Mutation_p.L241F|FCRL5_uc010phw.1_Missense_Mutation_p.L156F|FCRL5_uc001fqv.1_Missense_Mutation_p.L241F|FCRL5_uc010phx.2_5'UTR	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	241	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				TTCGGGGAGAGACTCCAGCCT	0.532000														84			19		0	0	0.00121646	0	0
TPTEP1	387590	broad.mit.edu	37	22	17178545	17178545	+	RNA	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr22:17178545C>T	uc002zls.1	+	2		c.627C>T								Homo sapiens transmembrane phosphatase with tensin homology pseudogene 1 (TPTEP1), non-coding RNA.																		TCCGGGACATCCGTTGGGGCT	0.582000														27			7		0	0	0.000274275	0	0
SCUBE3	222663	broad.mit.edu	37	6	35210459	35210459	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:35210459G>A	uc003okf.1	+	13	1601	c.1595G>A	c.(1594-1596)cGg>cAg	p.R532Q	SCUBE3_uc003okg.1_Missense_Mutation_p.R531Q|SCUBE3_uc003okh.1_Missense_Mutation_p.R419Q	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 3 (SCUBE3), mRNA.	532					protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						GACTCCTCTCGGAAGGGCAAG	0.622000														84			12		0	0	0.00244969	0	0
ATP5J2-PTCD1	100526740	broad.mit.edu	37	7	99017659	99017660	+	Missense_Mutation	DNP	CC	TT	TT	rs150466149		TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:99017659_99017660CC>TT	uc011kiw.2	-	8	2240_2241	c.2180_2181GG>AA	c.(2179-2181)cgg>cAA	p.R727Q	ATP5J2-PTCD1_uc003uqh.3_Missense_Mutation_p.R678Q	NM_001198879	NP_001185808	B4DJ38	B4DJ38_HUMAN	Homo sapiens ATP5J2-PTCD1 readthrough (ATP5J2-PTCD1), mRNA.	727																	GGGGCTTGGTCCGGAACTTCTG	0.614000														105			9		0	0	6.4e-05	0	0
DHX40	79665	broad.mit.edu	37	17	57665345	57665345	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:57665345C>T	uc002ixn.2	+	11	1660	c.1513C>T	c.(1513-1515)Ctg>Ttg	p.L505L	DHX40_uc010woe.2_Silent_p.L428L|DHX40_uc010wof.2_Silent_p.L20L	NM_024612	NP_078888	Q8IX18	DHX40_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 40 (DHX40), transcript variant 1, mRNA.	505							ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.L505M(2)		endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					AGCTGCTTCCCTGGATTGTGA	0.398000														90			23		0	0	0.00278032	0	0
GPRC5D	55507	broad.mit.edu	37	12	13102984	13102984	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:13102984G>A	uc010shp.2	-	0	335	c.335C>T	c.(334-336)tCc>tTc	p.S112F		NM_018654	NP_061124	Q9NZD1	GPC5D_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member D (GPRC5D), mRNA.	112						integral to membrane|plasma membrane	G-protein coupled receptor activity			kidney(2)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		CACTAGATTGGAGGCATGAGC	0.478000														38			9		0	0	0.000442599	0	0
KIAA0556	23247	broad.mit.edu	37	16	27786297	27786297	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr16:27786297C>T	uc002dow.3	+	23	4365	c.4341C>T	c.(4339-4341)tcC>tcT	p.S1447S		NM_015202	NP_056017	O60303	K0556_HUMAN	Homo sapiens KIAA0556 (KIAA0556), mRNA.	1447										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GCGTGAACTCCCTGGAGGGTG	0.617000														36			11		0	0	0.00136819	0	0
CHRM4	1132	broad.mit.edu	37	11	46406977	46406977	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:46406977G>A	uc001nct.1	-	0	1131	c.1131C>T	c.(1129-1131)ttC>ttT	p.F377F		NM_000741	NP_000732	P08173	ACM4_HUMAN	Homo sapiens cholinergic receptor, muscarinic 4 (CHRM4), mRNA.	377					cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)	CGATGCTGGCGAACTTGCGGG	0.612000														80			12		0	0	0.000978159	0	0
SLC44A4	80736	broad.mit.edu	37	6	31844842	31844842	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:31844842C>T	uc010jti.3	-	1	124	c.58G>A	c.(58-60)Gac>Aac	p.D20N	SLC44A4_uc011dol.2_5'UTR|SLC44A4_uc011dom.2_Missense_Mutation_p.D20N	NM_025257	NP_079533	Q53GD3	CTL4_HUMAN	Homo sapiens solute carrier family 44, member 4 (SLC44A4), transcript variant 1, mRNA.	20						integral to membrane|plasma membrane	choline transmembrane transporter activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	AAGGAGGGGTCGTATTTGACT	0.577000														176			25		0	0	0.00106085	0	0
MYO15A	51168	broad.mit.edu	37	17	18053778	18053778	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:18053778G>A	uc021trm.1	+	34	7467	c.7248G>A	c.(7246-7248)atG>atA	p.M2416I	MYO15A_uc021trl.1_Missense_Mutation_p.M2414I	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	2416	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin 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)					CCTACCGCATGAAAGGGGGAG	0.602000														28			6		0	0	0.00116845	0	0
OR8B8	26493	broad.mit.edu	37	11	124310158	124310158	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:124310158G>A	uc010sal.2	-	0	824	c.824C>T	c.(823-825)tCc>tTc	p.S275F		NM_012378	NP_036510	Q15620	OR8B8_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 8 (OR8B8), mRNA.	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		ATAGAATAGGGAAGACACCTT	0.413000														33			9		0	0	0.000274275	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24254941	24254941	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr8:24254941G>A	uc003xdz.2	+	5	819	c.599G>A	c.(598-600)cGa>cAa	p.R200Q	ADAMDEC1_uc010lub.2_Missense_Mutation_p.R121Q|ADAMDEC1_uc011lab.1_Missense_Mutation_p.R121Q	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	200					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)		GGCCCAATTCGAATCTCTAGA	0.428000														49			8		0	0	0.000274275	0	0
SYNE2	23224	broad.mit.edu	37	14	64519011	64519011	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr14:64519011C>T	uc001xgl.3	+	47	8610	c.8380C>T	c.(8380-8382)Cct>Tct	p.P2794S	SYNE2_uc001xgm.3_Missense_Mutation_p.P2794S|SYNE2_uc021ruh.1_Missense_Mutation_p.P2827S	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	2794					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGATAAGGTTCCTAGCCTTAC	0.408000														48			5		0	0	0.000602214	0	0
LRPAP1	4043	broad.mit.edu	37	4	3516526	3516526	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:3516526C>T	uc003ghh.4	-	6	1049	c.964G>A	c.(964-966)Gag>Aag	p.E322K		NM_002337	NP_002328	P30533	AMRP_HUMAN	Homo sapiens low density lipoprotein receptor-related protein associated protein 1 (LRPAP1), mRNA.	322	LDL receptor binding (Potential).				negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport	cell surface|integral to membrane|plasma membrane	asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		GCGTGCTTCTCGCGGCTGCGG	0.662000														52			12		0	0	0.000978159	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140307121	140307121	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:140307121G>A	uc003lih.2	+	0	820	c.644G>A	c.(643-645)gGa>gAa	p.G215E	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Missense_Mutation_p.G215E	NM_018898	NP_061721	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA.	239	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCGCTCAGGAGACGCACAA	0.587000														36			10		0	0	0.000442599	0	0
JMJD4	65094	broad.mit.edu	37	1	227920604	227920604	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:227920604G>A	uc001hrb.3	-	4	1085	c.1085C>T	c.(1084-1086)cCc>cTc	p.P362L	SNAP47_uc001hra.2_Intron|SNAP47_uc001hrd.3_5'Flank|SNAP47_uc001hre.3_5'Flank|SNAP47_uc001hrf.2_5'Flank|SNAP47_uc001hqx.4_Non-coding_Transcript|SNAP47_uc001hqy.4_Non-coding_Transcript|JMJD4_uc001hrc.3_Intron	NM_023007	NP_075383	Q9H9V9	JMJD4_HUMAN	Homo sapiens jumonji domain containing 4 (JMJD4), transcript variant 1, mRNA.	362										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9		Prostate(94;0.0885)				GTGCCAGTCGGGCATGGAGTC	0.627000														33			10		0	0	0.000442599	0	0
COL25A1	84570	broad.mit.edu	37	4	109817828	109817828	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:109817828C>T	uc021xqo.1	-	14	957	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K	COL25A1_uc003hze.1_Missense_Mutation_p.E301K|COL25A1_uc021xqp.1_Missense_Mutation_p.E301K|COL25A1_uc003hzg.3_Missense_Mutation_p.E301K|COL25A1_uc003hzd.3_Non-coding_Transcript|COL25A1_uc003hzf.3_Missense_Mutation_p.E82K	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	Homo sapiens collagen, type XXV, alpha 1 (COL25A1), transcript variant 1, mRNA.	301	Collagen-like 3.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		TGTACCTTTTCGCCTGTGTCA	0.423000														51			7		0	0	0.000274275	0	0
SERPINI1	5274	broad.mit.edu	37	3	167543099	167543099	+	Silent	SNP	C	T	T	rs149238028		TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:167543099C>T	uc003ffa.4	+	8	1419	c.1221C>T	c.(1219-1221)ttC>ttT	p.F407F	SERPINI1_uc003ffb.4_Silent_p.F407F	NM_001122752	NP_005016	Q99574	NEUS_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (neuroserpin), member 1 (SERPINI1), transcript variant 2, mRNA.	407					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						GACATGATTTCGAAGAACTTT	0.338000														130			30		0	0	0.0024448	0	0
DHTKD1	55526	broad.mit.edu	37	10	12159748	12159748	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:12159748C>T	uc001ild.4	+	13	2495	c.2396C>T	c.(2395-2397)cCa>cTa	p.P799L		NM_018706	NP_061176	Q96HY7	DHTK1_HUMAN	Homo sapiens dehydrogenase E1 and transketolase domain containing 1 (DHTKD1), nuclear gene encoding mitochondrial protein, mRNA.	799					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			TCTGTGGATCCAAAAAAGTAA	0.408000														236			35		0	0	0.000953801	0	0
MARVELD2	153562	broad.mit.edu	37	5	68737430	68737430	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:68737430A>C	uc003jwq.3	+	6	1700	c.1626A>C	c.(1624-1626)agA>agC	p.R542S	MARVELD2_uc010ixf.3_Missense_Mutation_p.R530S|MARVELD2_uc003jws.1_Non-coding_Transcript	NM_001038603	NP_001033692	Q8N4S9	MALD2_HUMAN	Homo sapiens MARVEL domain containing 2 (MARVELD2), transcript variant 1, mRNA.	542					sensory perception of sound	integral to membrane|tight junction				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		TAAAGCAAAGAATTCAAGAAT	0.254000														52			11		0	0	0.000978159	0	0
MUC17	140453	broad.mit.edu	37	7	100687042	100687042	+	Silent	SNP	G	A	A	rs140217158		TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:100687042G>A	uc003uxp.1	+	2	12398	c.12345G>A	c.(12343-12345)acG>acA	p.T4115T	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	4115						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.T4115T(2)		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)					CTGTCCCCACGAATACTACAA	0.478000														27			16		0	0	0.000958276	0	0
PLK4	10733	broad.mit.edu	37	4	128807865	128807865	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr4:128807865C>T	uc003ifo.3	+	4	1614	c.1340C>T	c.(1339-1341)cCt>cTt	p.P447L	PLK4_uc011cgs.2_Missense_Mutation_p.P415L|PLK4_uc011cgt.2_Missense_Mutation_p.P406L	NM_014264	NP_001177730	O00444	PLK4_HUMAN	Homo sapiens polo-like kinase 4 (PLK4), transcript variant 1, mRNA.	447					G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						TTTGAAAGACCTGATAACAAT	0.358000														28			5		0	0	0.00116845	0	0
CDH10	1008	broad.mit.edu	37	5	24593423	24593423	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:24593423A>T	uc003jgr.2	-	1	683	c.177T>A	c.(175-177)aaT>aaA	p.N59K	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	59	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.W58C(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AGAAAAATTGATTCCACATCC	0.383000										HNSCC(23;0.051)				81			12		0	0	0.00244969	0	0
RELN	5649	broad.mit.edu	37	7	103136310	103136310	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:103136310G>A	uc022ajr.1	-	56	9389	c.9229C>T	c.(9229-9231)Cct>Tct	p.P3077S	RELN_uc022ajq.1_Missense_Mutation_p.P3077S|RELN_uc010liz.3_Missense_Mutation_p.P3077S	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	3077					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)		ACAGCATTAGGGTAAAAACTC	0.408000														78			7		0	0	0.000157383	0	0
LRP1B	53353	broad.mit.edu	37	2	141607863	141607863	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:141607863C>T	uc002tvj.1	-	28	5719	c.4747G>A	c.(4747-4749)Gaa>Aaa	p.E1583K	LRP1B_uc010fnl.1_Missense_Mutation_p.E765K	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1583					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)		CCTCTGATTTCAGAACGTCTT	0.333000										TSP Lung(27;0.18)				22			9		0	0	0.000442599	0	0
C1orf172	126695	broad.mit.edu	37	1	27278454	27278454	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:27278454G>A	uc001bni.2	-	1	511	c.418C>T	c.(418-420)Cgt>Tgt	p.R140C	BC016143_uc021ojq.1_Intron	NM_152365	NP_689578	Q8NAX2	CA172_HUMAN	Homo sapiens chromosome 1 open reading frame 172 (C1orf172), mRNA.	140										NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		GGGGGTGCACGATCAGGGCTG	0.632000														28			5		0	0	0.00116845	0	0
RNASE3	6037	broad.mit.edu	37	14	21360228	21360228	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr14:21360228G>A	uc021roq.1	+	0	383	c.383G>A	c.(382-384)aGa>aAa	p.R128K	RNASE3_uc001vyj.3_Missense_Mutation_p.R128K	NM_002935	NP_002926	P12724	ECP_HUMAN	Homo sapiens ribonuclease, RNase A family, 3 (RNASE3), mRNA.	128					RNA catabolic process|defense response to bacterium	extracellular region|soluble fraction	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)	9	all_cancers(95;0.00453)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	Pranlukast(DB01411)	TATGCAGACAGACCAGGAAGG	0.473000														48			12		0	0	0.000978159	0	0
SLC26A3	1811	broad.mit.edu	37	7	107432331	107432331	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:107432331G>A	uc003ver.2	-	3	537	c.326C>T	c.(325-327)tCc>tTc	p.S109F	SLC26A3_uc003ves.2_Missense_Mutation_p.S74F	NM_000111	NP_000102	P40879	S26A3_HUMAN	Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA.	109					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TGGGAAAAAGGATGCATACAA	0.453000														59			39		0	0	0.000781405	0	0
MVP	9961	broad.mit.edu	37	16	29848075	29848075	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr16:29848075C>T	uc002dui.3	+	6	857	c.705C>T	c.(703-705)ttC>ttT	p.F235F	BOLA2_uc010bzb.1_Intron|MVP_uc010bzh.2_Non-coding_Transcript|MVP_uc010vdz.2_Non-coding_Transcript|MVP_uc002duj.3_Silent_p.F235F|MVP_uc010vea.2_5'UTR	NM_005115	NP_059447	Q14764	MVP_HUMAN	Homo sapiens major vault protein (MVP), transcript variant 2, mRNA.	235					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						GGCGGAACTTCCGGGACTTCA	0.627000														24			9		0	0	0.000274275	0	0
ZNF80	7634	broad.mit.edu	37	3	113955646	113955646	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:113955646G>A	uc010hqo.3	-	0	780	c.276C>T	c.(274-276)ttC>ttT	p.F92F	ZNF80_uc003ebf.3_Non-coding_Transcript	NM_007136	NP_009067	P51504	ZNF80_HUMAN	Homo sapiens zinc finger protein 80 (ZNF80), mRNA.	92						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.F92F(2)		NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				TGGGTCGAACGAAGTCGACCT	0.537000														14			4		0	0	0.00024832	0	0
FBN3	84467	broad.mit.edu	37	19	8154824	8154824	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:8154824G>A	uc002mjf.3	-	48	6221	c.6204C>T	c.(6202-6204)tgC>tgT	p.C2068C	FBN3_uc002mje.3_5'UTR	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	2068	TB 8.					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						GGCCAAAGGGGCAGAGCTCCT	0.637000														14			4		0	0	0.000602214	0	0
TMEM176B	28959	broad.mit.edu	37	7	150488702	150488702	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:150488702C>T	uc022apx.1	-	5	856	c.730G>A	c.(730-732)Gga>Aga	p.G244R	TMEM176B_uc003whu.4_Missense_Mutation_p.G244R|TMEM176B_uc003whv.4_Missense_Mutation_p.G207R|TMEM176B_uc003whw.4_Missense_Mutation_p.G244R	NM_014020	NP_054739	Q3YBM2	T176B_HUMAN	Homo sapiens transmembrane protein 176B (TMEM176B), transcript variant 1, mRNA.	244					cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTCTCTGATCCTTCCTCATTC	0.488000														39			5		0	0	0.000602214	0	0
POLA2	23649	broad.mit.edu	37	11	65046388	65046388	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:65046388C>T	uc001odj.3	+	5	981	c.649C>T	c.(649-651)Cga>Tga	p.R217*	POLA2_uc009yqf.1_Nonsense_Mutation_p.R217*|POLA2_uc010rod.1_Nonsense_Mutation_p.R9*|POLA2_uc001odk.3_5'Flank	NM_002689	NP_002680	Q14181	DPOA2_HUMAN	Homo sapiens polymerase (DNA directed), alpha 2 (70kD subunit) (POLA2), mRNA.	217					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	CCCAGACATTCGAGAAGGTGA	0.463000														53			8		0	0	0.000157383	0	0
PIWIL3	440822	broad.mit.edu	37	22	25144949	25144949	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr22:25144949C>T	uc003abd.1	-	11	1791	c.1374G>A	c.(1372-1374)ttG>ttA	p.L458L	PIWIL3_uc011ajx.1_Silent_p.L349L|PIWIL3_uc010gut.1_Silent_p.L458L|PIWIL3_uc011ajy.1_Silent_p.L349L	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN	Homo sapiens piwi-like 3 (Drosophila) (PIWIL3), transcript variant 1, mRNA.	458					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TATCAAATTTCAAATCCCAGA	0.348000														45			23		0	0	0.00047179	0	0
PHF15	23338	broad.mit.edu	37	5	133914418	133914418	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:133914418G>A	uc003kzk.2	+	11	2002	c.1964G>A	c.(1963-1965)cGa>cAa	p.R655Q	PHF15_uc011cxt.1_Missense_Mutation_p.R639Q|PHF15_uc003kzl.2_3'UTR|PHF15_uc003kzm.2_Missense_Mutation_p.R596Q|PHF15_uc003kzn.2_3'UTR|PHF15_uc003kzo.1_Missense_Mutation_p.R595Q	NM_015288	NP_056103	Q9NQC1	JADE2_HUMAN	Homo sapiens PHD finger protein 15 (PHF15), mRNA.	595	Pro-rich.				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGGAAGGCCCGAGGCCGCACC	0.652000														14			5		0	0	0.000602214	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18956283	18956283	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:18956283C>T	uc001mpg.3	-	0	267	c.49G>A	c.(49-51)Gga>Aga	p.G17R		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	17					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.G17L(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TCCTCAGTTCCGTTGATTGGT	0.517000														150			14		0	0	0.00074312	0	0
PCSK5	5125	broad.mit.edu	37	9	78794523	78794523	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr9:78794523C>T	uc004akc.2	+	14	2450	c.1912C>T	c.(1912-1914)Cct>Tct	p.P638S	PCSK5_uc004ajz.3_Missense_Mutation_p.P638S|PCSK5_uc004aka.3_Non-coding_Transcript|PCSK5_uc004akb.3_5'Flank	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	638	CRM (Cys-rich motif).				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	Golgi lumen|extracellular space|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						TCCCTGCGACCCTGAGTGCAG	0.423000														32			4		0	0	0.000602214	0	0
TLL2	7093	broad.mit.edu	37	10	98154991	98154991	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:98154991G>A	uc001kml.2	-	12	1920	c.1679C>T	c.(1678-1680)tCc>tTc	p.S560F	TLL2_uc009xvf.2_Missense_Mutation_p.S538F	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	Homo sapiens tolloid-like 2 (TLL2), mRNA.	560	CUB 2.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.S560S(1)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		AGAGCCATCGGACACAAACTT	0.473000														85			24		0	0	0.000720815	0	0
SVIL	6840	broad.mit.edu	37	10	29813491	29813491	+	Silent	SNP	C	T	T	rs113842540	byFrequency	TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:29813491C>T	uc001iut.1	-	13	3249	c.2496G>A	c.(2494-2496)gcG>gcA	p.A832A	SVIL_uc010qdw.1_5'Flank|SVIL_uc001iuu.1_Silent_p.A406A	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	832					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	p.A832A(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GGGTAGAAATCGCTTTTGAGA	0.507000														67			11		0	0	0.000673444	0	0
ATP1A3	478	broad.mit.edu	37	19	42471437	42471437	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:42471437C>T	uc002osh.3	-	21	3131	c.2977G>A	c.(2977-2979)Gaa>Aaa	p.E993K	ATP1A3_uc010xwf.2_Missense_Mutation_p.E1004K|ATP1A3_uc010xwg.2_Missense_Mutation_p.E963K|ATP1A3_uc002osg.3_Missense_Mutation_p.E993K|ATP1A3_uc010xwh.2_Missense_Mutation_p.E1006K			P13637	AT1A3_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA.	993					ATP biosynthetic process	Golgi apparatus|endoplasmic reticulum	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.E993K(2)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						TTGCGGATTTCGTCGTAGACG	0.652000														22			5		0	0	0.00116845	0	0
SGSM2	9905	broad.mit.edu	37	17	2266311	2266311	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:2266311G>A	uc002fum.4	+	5	732	c.555G>A	c.(553-555)aaG>aaA	p.K185K	SGSM2_uc002fun.4_Silent_p.K185K|SGSM2_uc010vqw.2_Silent_p.K185K	NM_014853	NP_055668	O43147	SGSM2_HUMAN	Homo sapiens small G protein signaling modulator 2 (SGSM2), transcript variant 1, mRNA.	185	RUN.					intracellular	Rab GTPase activator activity			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		AATACACTAAGCTCAAGACAG	0.617000														38			9		0	0	0.000978159	0	0
C1orf111	284680	broad.mit.edu	37	1	162344318	162344318	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:162344318G>A	uc001gbx.2	-	2	370	c.306C>T	c.(304-306)ttC>ttT	p.F102F		NM_182581	NP_872387	Q5T0L3	CA111_HUMAN	Homo sapiens chromosome 1 open reading frame 111 (C1orf111), mRNA.	102										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11	all_hematologic(112;0.15)		BRCA - Breast invasive adenocarcinoma(70;0.0938)			CTGCACACACGAAGTAGCTGT	0.572000														103			23		0	0	0.00047179	0	0
PCDHB9	56127	broad.mit.edu	37	5	140568886	140568886	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:140568886C>T	uc003liw.1	+	1	1992	c.1992C>T	c.(1990-1992)ggC>ggT	p.G664G		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	Homo sapiens protocadherin beta 9 (PCDHB9), mRNA.	665	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding							KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTGGACGGCTTCTCCCAGC	0.692000														117			16		0	0	0.000958276	0	0
OR2G2	81470	broad.mit.edu	37	1	247752457	247752457	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:247752457G>A	uc010pyy.2	+	0	796	c.796G>A	c.(796-798)Gcc>Acc	p.A266T		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA.	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			tctgcagCCAGCCAAGAGTAG	0.483000														45			22		0	0	0.00188189	0	0
WDR11	55717	broad.mit.edu	37	10	122624714	122624714	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:122624714C>T	uc021pzt.1	+	5	1115	c.869C>T	c.(868-870)cCa>cTa	p.P290L	WDR11_uc010qte.2_Intron|WDR11_uc001lfd.1_5'UTR	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN	Homo sapiens WD repeat domain 11 (WDR11), mRNA.	290						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						ACAGGAGTTCCATTTTTACAG	0.358000														51			7		0	0	0.00198382	0	0
C16orf48	84080	broad.mit.edu	37	16	67698988	67698988	+	Silent	SNP	G	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr16:67698988G>T	uc002etw.1	-	2	647	c.364C>A	c.(364-366)Cgg>Agg	p.R122R	C16orf48_uc002etv.1_5'Flank|C16orf86_uc002etx.1_5'Flank|C16orf86_uc002ety.3_5'Flank|C16orf86_uc002etz.3_5'Flank	NM_032140	NP_115516	Q9H0I2	CP048_HUMAN	Homo sapiens chromosome 16 open reading frame 48 (C16orf48), mRNA.	122						microtubule cytoskeleton	protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	10		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CCCTGCTCCCGGCTGCGCTCC	0.612000														101			16		8.60227e-14	4.28699e-13	0.000422831	1	0
OR10H4	126541	broad.mit.edu	37	19	16060702	16060702	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:16060702G>A	uc010xov.2	+	0	885	c.885G>A	c.(883-885)agG>agA	p.R295R		NM_001004465	NP_001004465	Q8NGA5	O10H4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 4 (OR10H4), mRNA.	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						TCAGCCTAAGGAACAAGGAGC	0.438000														45			12		0	0	0.00185496	0	0
ESYT3	83850	broad.mit.edu	37	3	138189779	138189779	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:138189779C>A	uc003esk.3	+	16	1877	c.1651C>A	c.(1651-1653)Ctc>Atc	p.L551I	ESYT3_uc010hug.2_Non-coding_Transcript	NM_031913	NP_114119	A0FGR9	ESYT3_HUMAN	Homo sapiens extended synaptotagmin-like protein 3 (ESYT3), mRNA.	551						integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						GTGCCAGATCCTCCCCTATGC	0.562000														187			37		5.71845e-15	2.85258e-14	0.00111076	1	0
SLC5A12	159963	broad.mit.edu	37	11	26694959	26694959	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:26694959C>T	uc001mra.2	-	13	2010	c.1697G>A	c.(1696-1698)gGg>gAg	p.G566E	SLC5A12_uc001mrb.2_Non-coding_Transcript	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 12 (SLC5A12), mRNA.	566					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						CTGCTCTGTCCCACTGTCATG	0.413000														34			6		0	0	0.00198382	0	0
ZBTB32	27033	broad.mit.edu	37	19	36206302	36206302	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:36206302C>T	uc002oay.3	+	1	984	c.774C>T	c.(772-774)ggC>ggT	p.G258G	ZBTB32_uc002oaz.3_Non-coding_Transcript|MLL2_uc021usu.1_5'Flank|MLL2_uc021usv.1_5'Flank	NM_014383	NP_055198	Q9Y2Y4	ZBT32_HUMAN	Homo sapiens zinc finger and BTB domain containing 32 (ZBTB32), mRNA.	258					DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGGTGGGGGGCCAGCCTGCCC	0.677000														42			11		0	0	0.00244969	0	0
PHKA2	5256	broad.mit.edu	37	X	18942596	18942596	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chrX:18942596G>A	uc004cyv.4	-	15	2047	c.1617C>T	c.(1615-1617)atC>atT	p.I539I	PHKA2_uc010nfg.1_Intron	NM_000292	NP_000283	P46019	KPB2_HUMAN	Homo sapiens phosphorylase kinase, alpha 2 (liver) (PHKA2), mRNA.	539					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					GCATCTCCACGATCATCTCAT	0.552000														24			10		0	0	0.000442599	0	0
SPOPL	339745	broad.mit.edu	37	2	139308617	139308617	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:139308617A>T	uc002tvh.3	+	3	745	c.345A>T	c.(343-345)aaA>aaT	p.K115N		NM_001001664	NP_001001664	Q6IQ16	SPOPL_HUMAN	Homo sapiens speckle-type POZ protein-like (SPOPL), mRNA.	115	MATH.					nucleus				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		AAGAAACAAAAGCAATGGGTA	0.353000														48			6		0	0	0.00198382	0	0
OR13C3	138803	broad.mit.edu	37	9	107298727	107298727	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr9:107298727G>A	uc004bcb.1	-	0	368	c.368C>T	c.(367-369)tCc>tTc	p.S123F		NM_001001961	NP_001001961	Q8NGS6	O13C3_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 3 (OR13C3), mRNA.	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						TCCAGAGAAGGAAATGTTTCT	0.443000														47			5		0	0	0.000602214	0	0
PCLO	27445	broad.mit.edu	37	7	82579979	82579979	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:82579979C>T	uc003uhx.2	-	5	10214	c.9925G>A	c.(9925-9927)Gag>Aag	p.E3309K	PCLO_uc003uhv.2_Missense_Mutation_p.E3309K|PCLO_uc010lec.3_Missense_Mutation_p.E274K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3240					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						ATCTTTTGCTCCTCCAGCTGC	0.493000														83			33		0	0	0.0024448	0	0
FPR2	2358	broad.mit.edu	37	19	52272265	52272265	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:52272265C>T	uc002pxr.3	+	1	399	c.354C>T	c.(352-354)ttC>ttT	p.F118F	FPR2_uc002pxs.4_Silent_p.F118F|FPR2_uc010epf.3_Silent_p.F118F|FPR2_uc021uyp.1_Silent_p.F118F	NM_001005738	NP_001453	P25090	FPR2_HUMAN	Homo sapiens formyl peptide receptor 2 (FPR2), transcript variant 2, mRNA.	118					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						TGATTGGTTTCATTGCACTGG	0.507000														56			10		0	0	0.000673444	0	0
PCDHB15	56121	broad.mit.edu	37	5	140626826	140626826	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:140626826C>T	uc003lje.3	+	0	1680	c.1680C>T	c.(1678-1680)ttC>ttT	p.F560F		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	Homo sapiens protocadherin beta 15 (PCDHB15), mRNA.	560	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.F560F(2)		NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTCGCCCTTCGTGCTGTACC	0.721000														46			6		0	0	0.000157383	0	0
PCDP1	200373	broad.mit.edu	37	2	120383201	120383201	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:120383201C>T	uc002tmb.3	+	15	1707	c.595C>T	c.(595-597)Cgt>Tgt	p.R199C	PCDP1_uc010yyq.2_Missense_Mutation_p.R329C	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN	Homo sapiens primary ciliary dyskinesia protein 1 (PCDP1), mRNA.	485						cilium	calmodulin binding					Colorectal(110;0.196)					GAGTGCTGTTCGTGAAATGGA	0.403000														16			5		0	0	0.00116845	0	0
NCOA3	8202	broad.mit.edu	37	20	46277849	46277849	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr20:46277849C>T	uc002xtk.3	+	18	3908	c.3647C>T	c.(3646-3648)tCc>tTc	p.S1216F	NCOA3_uc002xtl.3_Intron|NCOA3_uc002xtn.3_Missense_Mutation_p.S1216F|NCOA3_uc010ght.2_Intron|NCOA3_uc002xtm.3_Intron|NCOA3_uc010zyc.2_Missense_Mutation_p.S1011F	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	Homo sapiens nuclear receptor coactivator 3 (NCOA3), transcript variant 1, mRNA.	1216	Acetyltransferase.				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						CAGgtgagctcccaggtgagg	0.498000														22			4		0	0	0.000602214	0	0
GDF3	9573	broad.mit.edu	37	12	7842822	7842822	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:7842822C>T	uc001qte.3	-	1	783	c.747G>A	c.(745-747)agG>agA	p.R249R		NM_020634	NP_065685	Q9NR23	GDF3_HUMAN	Homo sapiens growth differentiation factor 3 (GDF3), mRNA.	249					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TGGCTGCTCTCCTTTTCCGAG	0.537000														47			8		0	0	0.000442599	0	0
COL9A2	1298	broad.mit.edu	37	1	40775826	40775826	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:40775826C>T	uc001cfh.1	-	14	861	c.749G>A	c.(748-750)gGa>gAa	p.G250E	COL9A2_uc001cfi.1_Missense_Mutation_p.G69E	NM_001852	NP_001843	Q14055	CO9A2_HUMAN	Homo sapiens collagen, type IX, alpha 2 (COL9A2), mRNA.	250	Triple-helical region 3 (COL3).				axon guidance|skeletal system development	collagen type IX				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			GCCTTTATATCCATGAGGGCC	0.597000														45			8		0	0	0.000442599	0	0
ZNF239	8187	broad.mit.edu	37	10	44053196	44053196	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:44053196C>T	uc001jaw.4	-	1	985	c.332G>A	c.(331-333)aGt>aAt	p.S111N	ZNF239_uc001jax.4_Missense_Mutation_p.S111N|ZNF239_uc009xmj.3_Missense_Mutation_p.S111N|ZNF239_uc009xmk.3_Missense_Mutation_p.S111N|ZNF239_uc021pph.1_Missense_Mutation_p.S111N	NM_005674	NP_005665	Q16600	ZN239_HUMAN	Homo sapiens zinc finger protein 239 (ZNF239), transcript variant 1, mRNA.	111					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CTCTGAACAACTTTCCCCCTT	0.433000														66			22		0	0	0.00188189	0	0
JAK3	3718	broad.mit.edu	37	19	17949183	17949183	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:17949183G>A	uc002nhn.4	-	10	1558	c.1458C>T	c.(1456-1458)atC>atT	p.I486I	JAK3_uc010ebh.3_Non-coding_Transcript|JAK3_uc002nho.2_Silent_p.I486I|JAK3_uc010xpx.1_3'UTR	NM_000215	NP_000206	P52333	JAK3_HUMAN	Homo sapiens Janus kinase 3 (JAK3), mRNA.	486					B cell differentiation|T cell homeostasis|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of FasL biosynthetic process|negative regulation of T-helper 1 cell differentiation|negative regulation of dendritic cell cytokine production|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						TCTGGACCACGATCAGGTTGG	0.493000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""									69			12		0	0	0.00136819	0	0
DMGDH	29958	broad.mit.edu	37	5	78347271	78347271	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:78347271G>A	uc003kfs.3	-	4	590	c.584C>T	c.(583-585)cCt>cTt	p.P195L	DMGDH_uc011cte.1_Missense_Mutation_p.P45L|DMGDH_uc011ctf.1_Intron|DMGDH_uc011ctg.1_Intron	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN	Homo sapiens dimethylglycine dehydrogenase (DMGDH), nuclear gene encoding mitochondrial protein, mRNA.	195					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		TAGAGAATAAGGATCAATGTG	0.388000														30			7		0	0	0.00198382	0	0
TNFRSF17	608	broad.mit.edu	37	16	12060121	12060121	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr16:12060121C>T	uc002dbv.3	+	1	418	c.200C>T	c.(199-201)tCt>tTt	p.S67F	TNFRSF17_uc010buy.3_Missense_Mutation_p.S67F|TNFRSF17_uc010buz.3_Intron	NM_001192	NP_001183	Q02223	TNR17_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 17 (TNFRSF17), mRNA.	67					cell proliferation|multicellular organismal development	endomembrane system|integral to membrane|plasma membrane				large_intestine(3)|lung(3)	6						TTAATAATTTCTTTGGCAGTT	0.373000			T	IL2	intestinal T-cell lymphoma									47			15		0	0	0.000566183	0	0
ZSCAN5A	79149	broad.mit.edu	37	19	56733670	56733670	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:56733670C>T	uc002qmq.3	-	4	931	c.765G>A	c.(763-765)ggG>ggA	p.G255G	ZSCAN5A_uc010ygi.2_Silent_p.G138G|ZSCAN5A_uc002qmr.3_Silent_p.G255G|ZSCAN5A_uc002qms.1_Silent_p.G254G	NM_024303	NP_077279	Q9BUG6	ZSA5A_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5A (ZSCAN5A), mRNA.	255					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GGGGGTCCTTCCCCTCCTTTG	0.488000														51			15		0	0	0.000308642	0	0
FCRL5	83416	broad.mit.edu	37	1	157494336	157494336	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:157494336G>A	uc009wsm.3	-	9	2130	c.1972C>T	c.(1972-1974)Cgt>Tgt	p.R658C	FCRL5_uc001fqu.3_Missense_Mutation_p.R658C|FCRL5_uc010phv.1_Missense_Mutation_p.R658C|FCRL5_uc010phw.1_Missense_Mutation_p.R573C	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	658						integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				AGGATGGGACGAGATACTGGA	0.502000														30			11		0	0	0.00136819	0	0
PCDHB9	56127	broad.mit.edu	37	5	140567945	140567945	+	Silent	SNP	A	C	C			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:140567945A>C	uc003liw.1	+	0	1053	c.1053A>C	c.(1051-1053)tcA>tcC	p.S351S		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	Homo sapiens protocadherin beta 9 (PCDHB9), mRNA.	351					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding							KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCATATCATCACTTTCCAACT	0.393000														57			9		0	0	0.000274275	0	0
PTPN21	11099	broad.mit.edu	37	14	88945348	88945348	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr14:88945348G>A	uc001xwv.4	-	12	2758	c.2427C>T	c.(2425-2427)gcC>gcT	p.A809A	PTPN21_uc010twc.2_Silent_p.A605A	NM_007039	NP_008970	Q16825	PTN21_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 21 (PTPN21), mRNA.	809						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						AGTCCCTCCGGGCTCGGTAGC	0.662000														51			6		0	0	0.00116845	0	0
PCDHB11	56125	broad.mit.edu	37	5	140580416	140580416	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:140580416C>T	uc003liy.3	+	0	1069	c.1069C>T	c.(1069-1071)Cca>Tca	p.P357S		NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	Homo sapiens protocadherin beta 11 (PCDHB11), mRNA.	357	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.P357P(1)		NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGTCCAATCCCAGAAAATAC	0.423000														74			10		0	0	0.000673444	0	0
FCRL5	83416	broad.mit.edu	37	1	157504474	157504474	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:157504474C>T	uc009wsm.3	-	7	1769	c.1611G>A	c.(1609-1611)ggG>ggA	p.G537G	FCRL5_uc001fqu.3_Silent_p.G537G|FCRL5_uc010phv.1_Silent_p.G537G|FCRL5_uc010phw.1_Silent_p.G452G|FCRL5_uc001fqv.1_Silent_p.G537G|FCRL5_uc010phx.2_Silent_p.G288G	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	537	Ig-like C2-type 5.					integral to membrane|plasma membrane	receptor activity	p.S536S(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				AGTAGTAATTCCCTGAATGTC	0.512000														21			8		0	0	0.000274275	0	0
OR51E1	143503	broad.mit.edu	37	11	4674660	4674660	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:4674660C>T	uc021qcq.1	+	0	904	c.904C>T	c.(904-906)Cga>Tga	p.R302*	OR51E1_uc001lzi.4_Nonsense_Mutation_p.R302*	NM_152430	NP_689643	Q8TCB6	O51E1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 1 (OR51E1), mRNA.	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R301*(2)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAAGGAGATTCGACAGCGCAT	0.507000														73			19		0	0	0.00152264	0	0
RANBP2	5903	broad.mit.edu	37	2	109347268	109347269	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:109347268_109347269CC>AA	uc002tem.4	+	2	305_306	c.179_180CC>AA	c.(178-180)ccc>cAA	p.P60Q		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	60					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GAGAGGGATCCCAAAGCTCACA	0.327000														194			9		0	0	6.4e-05	0	0
KCNH6	81033	broad.mit.edu	37	17	61607722	61607722	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:61607722G>A	uc002jay.3	+	3	574	c.494G>A	c.(493-495)gGa>gAa	p.G165E	KCNH6_uc002jax.1_Missense_Mutation_p.G165E|KCNH6_uc010wpl.2_Missense_Mutation_p.G42E|KCNH6_uc010wpm.2_Missense_Mutation_p.G165E|KCNH6_uc002jaz.1_Missense_Mutation_p.G165E	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	165			G -> R (in dbSNP:rs35399062).		regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	AGGCCAGGCGGACCAGGGCCA	0.637000														46			12		0	0	0.00136819	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7676625	7676625	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr19:7676625G>A	uc002mgu.4	+	12	1428	c.1327G>A	c.(1327-1329)Gac>Aac	p.D443N	CAMSAP3_uc002mgv.4_Missense_Mutation_p.D416N|CAMSAP3_uc002mgw.3_5'Flank	NM_001080429	NP_001073898	Q9P1Y5	CAMP3_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 3 (CAMSAP3), transcript variant 1, mRNA.	416	Pro-rich.				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CCTGGACAGCGACGTGGATGT	0.731000											OREG0007838	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=KIAA1543|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)		14			5		0	0	0.000602214	0	0
NRXN1	9378	broad.mit.edu	37	2	50724759	50724759	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:50724759T>C	uc021vhh.1	-	12	3512	c.2591A>G	c.(2590-2592)aAc>aGc	p.N864S	NRXN1_uc002rxb.4_Missense_Mutation_p.N536S|NRXN1_uc021vhg.1_Missense_Mutation_p.N904S|NRXN1_uc021vhi.1_Missense_Mutation_p.N900S|NRXN1_uc021vhj.1_Missense_Mutation_p.N860S|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	864	Laminin G-like 4.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TCCAATGAAGTTGGAGGGGAC	0.428000														24			5		0	0	0.000602214	0	0
CALHM1	255022	broad.mit.edu	37	10	105215178	105215178	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:105215178C>T	uc001kxe.2	-	1	1022	c.882G>A	c.(880-882)acG>acA	p.T294T	CALHM2_uc001kxd.1_5'Flank	NM_001001412	NP_001001412	Q8IU99	CAHM1_HUMAN	Homo sapiens calcium homeostasis modulator 1 (CALHM1), mRNA.	294						endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel activity|identical protein binding			large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						TGCCTTGATCCGTGATGCCAC	0.667000														37			5		0	0	0.00116845	0	0
DIDO1	11083	broad.mit.edu	37	20	61511132	61511132	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr20:61511132G>A	uc002ydr.2	-	15	6488	c.6176C>T	c.(6175-6177)cCc>cTc	p.P2059L	DIDO1_uc002yds.2_Missense_Mutation_p.P2059L	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	2059					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.P2059A(1)		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)					GTCGGCCTCGGGGCCCTGTCC	0.687000														107			20		0	0	0.00188189	0	0
ENGASE	64772	broad.mit.edu	37	17	77081374	77081374	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr17:77081374C>T	uc002jwv.3	+	11	1658	c.1650C>T	c.(1648-1650)gcC>gcT	p.A550A	ENGASE_uc002jww.3_Silent_p.A255A	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN	Homo sapiens endo-beta-N-acetylglucosaminidase (ENGASE), mRNA.	550						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						CCAAGCTGGCCAGATGGGTGG	0.592000														31			6		0	0	0.000157383	0	0
SVEP1	79987	broad.mit.edu	37	9	113173468	113173468	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr9:113173468C>T	uc010mtz.3	-	36	6860	c.6523G>A	c.(6523-6525)Ggg>Agg	p.G2175R	SVEP1_uc010mty.3_Missense_Mutation_p.G101R	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	2175	Sushi 13.				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						ATGTAGAACCCCTTGTTGCAG	0.532000														53			10		0	0	0.000673444	0	0
DNAH5	1767	broad.mit.edu	37	5	13830721	13830721	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr5:13830721C>T	uc003jfd.2	-	35	6088	c.6046G>A	c.(6046-6048)Gga>Aga	p.G2016R		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2016	AAA 1 (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)					AAAATCCGTCCAAGTCCTCGG	0.408000									Kartagener syndrome					43			6		0	0	0.00116845	0	0
TROAP	10024	broad.mit.edu	37	12	49721110	49721110	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:49721110C>T	uc009zlh.3	+	7	1055	c.888C>T	c.(886-888)acC>acT	p.T296T	TROAP_uc001rtx.4_Silent_p.T296T	NM_005480	NP_005471	Q12815	TROAP_HUMAN	Homo sapiens trophinin associated protein (tastin) (TROAP), transcript variant 1, mRNA.	296					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						TGTCACATACCAGGGTGAGAT	0.527000														62			7		0	0	0.000274275	0	0
TOP1MT	116447	broad.mit.edu	37	8	144406777	144406777	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr8:144406777G>A	uc003yxz.3	-	5	713	c.694C>T	c.(694-696)Ccg>Tcg	p.P232S	TOP1MT_uc011lkd.2_Missense_Mutation_p.P134S|TOP1MT_uc011lke.2_Missense_Mutation_p.P134S|TOP1MT_uc011lkf.2_Missense_Mutation_p.P27S|TOP1MT_uc010mfd.1_Missense_Mutation_p.P27S	NM_052963	NP_443195	Q969P6	TOP1M_HUMAN	Homo sapiens topoisomerase (DNA) I, mitochondrial (TOP1MT), nuclear gene encoding mitochondrial protein, mRNA.	232					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|chromatin DNA binding	p.P232P(1)		endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	TGCCCCGCCGGCGGCTCGGGG	0.562000														92			16		0	0	0.00188189	0	0
ZUFSP	221302	broad.mit.edu	37	6	116966922	116966922	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:116966922G>A	uc003pxf.2	-	8	1904	c.1644C>T	c.(1642-1644)taC>taT	p.Y548Y	ZUFSP_uc010kef.2_Silent_p.Y352Y	NM_145062	NP_659499	Q96AP4	ZUFSP_HUMAN	Homo sapiens zinc finger with UFM1-specific peptidase domain (ZUFSP), mRNA.	548						intracellular	zinc ion binding			NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		CCAATATCTGGTATTGCTTAT	0.343000														48			18		0	0	0.00152264	0	0
ZNHIT6	54680	broad.mit.edu	37	1	86173753	86173753	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:86173753G>T	uc001dlh.3	-	0	364	c.215C>A	c.(214-216)cCg>cAg	p.P72Q	ZNHIT6_uc010osc.2_Missense_Mutation_p.P72Q	NM_017953	NP_060423	Q9NWK9	BCD1_HUMAN	Homo sapiens zinc finger, HIT-type containing 6 (ZNHIT6), transcript variant 1, mRNA.	72	Glu-rich.				box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding			autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						TAGGTCCATCGGTATTTCCTC	0.567000														71			6		0.00198382	0.00964398	0.00198382	1	0
FZD6	8323	broad.mit.edu	37	8	104330892	104330892	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr8:104330892C>T	uc003ylh.3	+	2	542	c.252C>T	c.(250-252)acC>acT	p.T84T	FZD6_uc011lhn.2_Silent_p.T52T|FZD6_uc003ylj.3_Silent_p.T84T|FZD6_uc011lho.2_Intron|FZD6_uc011lhp.2_Silent_p.T29T	NM_001164615	NP_001158088	O60353	FZD6_HUMAN	Homo sapiens frizzled family receptor 6 (FZD6), transcript variant 2, mRNA.	84	FZ.				G-protein signaling, coupled to cGMP nucleotide second messenger|angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.P83Q(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			TTGTACCAACCTGCATAGAAC	0.363000														43			9		0	0	0.000978159	0	0
SLC8A1	6546	broad.mit.edu	37	2	40366764	40366764	+	Silent	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr2:40366764G>A	uc002rrx.3	-	8	2346	c.2322C>T	c.(2320-2322)ttC>ttT	p.F774F	LOC100128590_uc002rrw.3_Intron|SLC8A1_uc002rry.3_Silent_p.F769F|SLC8A1_uc002rsb.2_Silent_p.F766F|SLC8A1_uc002rrz.3_Silent_p.F761F|SLC8A1_uc002rsa.3_Silent_p.F738F|SLC8A1_uc002rsd.4_Silent_p.F738F	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	774					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TCACGTAATCGAAACAGGAGG	0.502000														38			10		0	0	0.000978159	0	0
AKR1C4	1109	broad.mit.edu	37	10	5238875	5238875	+	Silent	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr10:5238875C>T	uc001ihw.2	+	0	78	c.45C>T	c.(43-45)ttC>ttT	p.F15F		NM_001818	NP_001809	P17516	AK1C4_HUMAN	Homo sapiens aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4) (AKR1C4), mRNA.	15					androgen metabolic process|bile acid biosynthetic process	cytosol	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18					NADH(DB00157)	ATGGTCACTTCATGCCCGTAT	0.418000														50			9		0	0	0.000673444	0	0
TRIM49C	642612	broad.mit.edu	37	11	89774485	89774485	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr11:89774485G>A	uc010rua.2	+	7	1455	c.1126G>A	c.(1126-1128)Gga>Aga	p.G376R		NM_001195234	NP_001182163	P0CI26	T49L2_HUMAN	Homo sapiens tripartite motif containing 49-like 2 (TRIM49L2), mRNA.	376	B30.2/SPRY.					intracellular	zinc ion binding	p.G376V(1)		endometrium(3)|kidney(1)|lung(4)	8						TGGAAAGGAGGGACTCTTTCT	0.448000														40			6		0	0	0.00198382	0	0
GRIA3	2892	broad.mit.edu	37	X	122551547	122551547	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chrX:122551547C>T	uc004etq.4	+	10	2087	c.1795C>T	c.(1795-1797)Cct>Tct	p.P599S	GRIA3_uc004etr.4_Missense_Mutation_p.P599S|GRIA3_uc004ets.4_Non-coding_Transcript|GRIA3_uc011muf.1_Missense_Mutation_p.P583S	NM_007325	NP_015564	P42263	GRIA3_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA.	599					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)	TCCTCCTGATCCTCCAAATGA	0.418000														18			20		0	0	0.00152264	0	0
NFYB	4801	broad.mit.edu	37	12	104517131	104517131	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr12:104517131G>C	uc001tkl.1	-	4	503	c.302C>G	c.(301-303)gCa>gGa	p.A101G		NM_006166	NP_006157	P25208	NFYB_HUMAN	Homo sapiens nuclear transcription factor Y, beta (NFYB), mRNA.	101	B domain.					CCAAT-binding factor complex	repressing transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	6						CCTTTCACTTGCTTCAGATGT	0.358000														58			14		0	0	0.00244969	0	0
SYN3	8224	broad.mit.edu	37	22	33327390	33327390	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr22:33327390C>T	uc003amx.3	-	2	608	c.446G>A	c.(445-447)gGg>gAg	p.G149E	SYN3_uc003amy.3_Missense_Mutation_p.G149E|SYN3_uc003amz.3_Missense_Mutation_p.G149E	NM_003490	NP_003481	O14994	SYN3_HUMAN	Homo sapiens synapsin III (SYN3), transcript variant IIIa, mRNA.	149	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CACTTTGGTCCCATTTCTCAC	0.488000														50			22		0	0	0.00278032	0	0
HLA-DMB	3109	broad.mit.edu	37	6	32903125	32903125	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr6:32903125A>C	uc003ocl.2	-	4	1032	c.769T>G	c.(769-771)Tca>Gca	p.S257A	HLA-DMB_uc003ock.2_Non-coding_Transcript|HLA-DMB_uc010jud.2_Intron|HLA-DMB_uc010jue.2_Missense_Mutation_p.S87A|HLA-DMB_uc010juf.2_Intron|HLA-DMB_uc003ocj.2_3'UTR	NM_002118	NP_002109	P28068	DMB_HUMAN	Homo sapiens major histocompatibility complex, class II, DM beta (HLA-DMB), mRNA.	257					T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	MHC class II protein complex|integral to membrane|late endosome membrane|lysosomal membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						TTACCTTCTGAATAATTGGAC	0.413000														31			8		0	0	0.000157383	0	0
MYH7	4625	broad.mit.edu	37	14	23896073	23896073	+	Splice_Site	SNP	C	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr14:23896073C>T	uc001wjx.3	-	18	2063	c.1957_splice	c.e18-1	p.E653_splice		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	653	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|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)		TTCAGATTTTCCTGTGGCCAA	0.438000														25			9		0	0	0.000274275	0	0
RERE	473	broad.mit.edu	37	1	8418745	8418745	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr1:8418745delG	uc001ape.3	-	20	4660	c.3850delC	c.(3850-3852)ctgfs	p.L1284fs	RERE_uc001apf.3_Frame_Shift_Del_p.L1284fs|RERE_uc001apd.3_Frame_Shift_Del_p.L730fs	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	1284					NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TAGGCCAGCAGGGGGTCCGTG	0.672													---	39	---	---	17	---					
SYN2	6854	broad.mit.edu	37	3	12046124	12046126	+	In_Frame_Del	DEL	AGC	-	-	rs76272937		TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:12046124_12046126delAGC	uc003bwm.3	+	0	263_265	c.99_101delAGC	c.(97-102)caagcg>cag	p.A34del	SYN2_uc003bwl.1_In_Frame_Del_p.A34del	NM_133625	NP_598328	Q86VA8	Q86VA8_HUMAN	Homo sapiens synapsin II (SYN2), transcript variant IIa, mRNA.	34					neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AGCCCCAGCAAGCGCCGAcgccg	0.764													---	4	---	---	3	---					
RAD54L2	23132	broad.mit.edu	37	3	51675762	51675765	+	Splice_Site	DEL	CAGC	-	-			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr3:51675762_51675765delCAGC	uc011bdt.2	+	14	2357	c.2232_splice	c.e14-1	p.S744_splice	RAD54L2_uc003dbh.3_Splice_Site_p.S335_splice|RAD54L2_uc011bdu.2_Splice_Site_p.S438_splice|RAD54L2_uc003dbj.3_Splice_Site_p.S70_splice	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	Homo sapiens RAD54-like 2 (S. cerevisiae) (RAD54L2), mRNA.	744	Helicase C-terminal.					nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		TTTTCTGTTTCAGCCAGAGTCTTT	0.495													---	4	---	---	2	---					
GPC2	221914	broad.mit.edu	37	7	99768025	99768028	+	Frame_Shift_Del	DEL	GGCC	-	-			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:99768025_99768028delGGCC	uc003utv.3	-	9	1733_1736	c.1565_1568delGGCC	c.(1564-1569)cggcctfs	p.R522fs	GAL3ST4_uc003utt.3_5'Flank|GAL3ST4_uc003utu.3_5'Flank|GPC2_uc010lgr.3_Non-coding_Transcript	NM_152742	NP_689955	Q8N158	GPC2_HUMAN	Homo sapiens glypican 2 (GPC2), mRNA.	522						anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGGCCGAGGAGGCCGGGCTGGGGG	0.652													---	12	---	---	6	---					
FEZF1	389549	broad.mit.edu	37	7	121942979	121942980	+	Frame_Shift_Ins	INS	-	T	T			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr7:121942979_121942980insT	uc003vkd.3	-	2	1016_1017	c.942_943insA	c.(940-945)aaacctfs	p.K314fs	FEZF1_uc003vkc.3_Frame_Shift_Ins_p.K264fs|LOC154860_uc010lko.2_5'Flank	NM_001024613	NP_001019784	A0PJY2	FEZF1_HUMAN	Homo sapiens FEZ family zinc finger 1 (FEZF1), transcript variant 1, mRNA.	314					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						CATTTGTGAGGTTTTTCCTAAG	0.371													---	148	---	---	17	---					
BRD7	29117	broad.mit.edu	37	16	50357512	50357512	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr16:50357512delG	uc021thx.1	-	11	1589	c.1429delC	c.(1429-1431)caafs	p.Q477fs	BRD7_uc002ege.2_Frame_Shift_Del_p.Q477fs	NM_013263	NP_037395	Q9NPI1	BRD7_HUMAN	Homo sapiens bromodomain containing 7 (BRD7), transcript variant 2, mRNA.	477					Wnt receptor signaling pathway|cell cycle|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				TCCATCTCTTGTAGGGTCCTG	0.403													---	34	---	---	7	---					
ANKRD11	29123	broad.mit.edu	37	16	89349891	89349895	+	Frame_Shift_Del	DEL	TTCCT	-	-			TCGA-EE-A183-06A-11D-A196-08	TCGA-EE-A183-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f761a03e-2d52-41a7-85fb-c5ab379f9b6b	173c12cd-5c9d-4c23-a427-696a9a0adf39	g.chr16:89349891_89349895delTTCCT	uc002fmx.1	-	8	3516_3520	c.3055_3059delAGGAA	c.(3055-3060)aggaagfs	p.R1019fs	ANKRD11_uc002fmy.1_Frame_Shift_Del_p.R1019fs|ANKRD11_uc002fnc.1_Frame_Shift_Del_p.R1019fs|ANKRD11_uc002fnb.1_Frame_Shift_Del_p.R976fs	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	1019	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TGTCTTCTCCTTCCTTTCCTTATCG	0.483													---	119	---	---	31	---					
